1 |
Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health & Human Services. 2015
|
2 |
ClinicalTrials.gov (NCT01079325) Clinical Trial of SB-509 in Subjects With Diabetic Neuropathy. U.S. National Institutes of Health.
|
3 |
Novel NF-B inhibitors: a patent review (2011 - 2014).Expert Opin Ther Pat. 2015 Mar;25(3):319-34.
|
4 |
Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800022017)
|
5 |
Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800001975)
|
6 |
The ChEMBL database in 2017. Nucleic Acids Res. 2017 Jan 4;45(D1):D945-D954.
|
7 |
Evaluation of [(18)F]MC225 as a PET radiotracer for measuring P-glycoprotein function at the blood-brain barrier in rats: Kinetics, metabolism, and selectivity.J Cereb Blood Flow Metab. 2017 Apr;37(4):1286-1298. doi: 10.1177/0271678X16654493. Epub 2016 Jan 1.
|
8 |
Downstream TRPM4 Polymorphisms Are Associated with Intracranial Hypertension and Statistically Interact with ABCC8 Polymorphisms in a Prospective Cohort of Severe Traumatic Brain Injury.J Neurotrauma. 2019 Jun;36(11):1804-1817. doi: 10.1089/neu.2018.6124. Epub 2019 Feb 1.
|
9 |
Mutations associated with Sjgren-Larsson syndrome.Ann Hum Genet. 1997 May;61(Pt 3):235-42. doi: 10.1046/j.1469-1809.1997.6130235.x.
|
10 |
Aspartoacylase gene transfer to the mammalian central nervous system with therapeutic implications for Canavan disease.Ann Neurol. 2000 Jul;48(1):27-38. doi: 10.1002/1531-8249(200007)48:1<27::aid-ana6>3.0.co;2-6.
|
11 |
Up-regulation of matrix metalloproteinase-3 in the dorsal root ganglion of rats with paclitaxel-induced neuropathy.Cancer Sci. 2008 Aug;99(8):1618-25. doi: 10.1111/j.1349-7006.2008.00877.x.
|
12 |
Inhibition of phosphorylation of na+,k+-ATPase by mutations causing familial hemiplegic migraine.J Biol Chem. 2012 Jan 13;287(3):2191-202. doi: 10.1074/jbc.M111.323022. Epub 2011 Nov 23.
|
13 |
ATP7A and ATP7B copper transporters have distinct functions in the regulation of neuronal dopamine--hydroxylase.J Biol Chem. 2018 Dec 28;293(52):20085-20098. doi: 10.1074/jbc.RA118.004889. Epub 2018 Oct 19.
|
14 |
Neuroanatomical distribution and functions of brain-derived neurotrophic factor in zebrafish (Danio rerio) brain.J Neurosci Res. 2020 May;98(5):754-763. doi: 10.1002/jnr.24536. Epub 2019 Sep 18.
|
15 |
C9orf72-dependent lysosomal functions regulate epigenetic control of autophagy and lipid metabolism.Autophagy. 2019 May;15(5):913-914. doi: 10.1080/15548627.2019.1580106. Epub 2019 Feb 20.
|
16 |
An update on novel mechanisms of primary aldosteronism.J Endocrinol. 2015 Feb;224(2):R63-77. doi: 10.1530/JOE-14-0597. Epub 2014 Nov 25.
|
17 |
Calcium channels and channelopathies of the central nervous system.Mol Neurobiol. 2002 Feb;25(1):31-50. doi: 10.1385/MN:25:1:031.
|
18 |
The calpain family and human disease.Trends Mol Med. 2001 Aug;7(8):355-62. doi: 10.1016/s1471-4914(01)02049-4.
|
19 |
Deletion of JDP2 improves neurological outcomes of traumatic brain injury (TBI) in mice: Inactivation of Caspase-3.Biochem Biophys Res Commun. 2018 Oct 12;504(4):805-811. doi: 10.1016/j.bbrc.2018.08.055. Epub 2018 Sep 11.
|
20 |
Bcl-X(L)-caspase-9 interactions in the developing nervous system: evidence for multiple death pathways.J Neurosci. 2001 Jan 1;21(1):169-75. doi: 10.1523/JNEUROSCI.21-01-00169.2001.
|
21 |
TLX-Its Emerging Role for Neurogenesis in Health and Disease.Mol Neurobiol. 2017 Jan;54(1):272-280. doi: 10.1007/s12035-015-9608-1. Epub 2016 Jan 6.
|
22 |
Computational Simulations Identified Two Candidate Inhibitors of Cdk5/p25 to Abrogate Tau-associated Neurological Disorders.Comput Struct Biotechnol J. 2019 Apr 22;17:579-590. doi: 10.1016/j.csbj.2019.04.010. eCollection 2019.
|
23 |
Calpastatin, an endogenous calpain-inhibitor protein, regulates the cleavage of the Cdk5 activator p35 to p25.J Neurochem. 2011 May;117(3):504-15. doi: 10.1111/j.1471-4159.2011.07222.x. Epub 2011 Mar 15.
|
24 |
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33.PLoS One. 2010 Aug 27;5(8):e12462. doi: 10.1371/journal.pone.0012462.
|
25 |
Elevation of Hook1 in a disease model of Batten disease does not affect a novel interaction between Ankyrin G and Hook1.Biochem Biophys Res Commun. 2005 May 20;330(4):1176-81. doi: 10.1016/j.bbrc.2005.03.103.
|
26 |
Human Cannabinoid Receptor 2 Ligand-Interaction Motif: Transmembrane Helix 2 Cysteine, C2.59(89), as Determinant of Classical Cannabinoid Agonist Activity and Binding Pose.ACS Chem Neurosci. 2017 Jun 21;8(6):1338-1347. doi: 10.1021/acschemneuro.7b00003. Epub 2017 Mar 1.
|
27 |
Catechol-O-Methyltransferase (COMT): An Update on Its Role in Cancer, Neurological and Cardiovascular Diseases.Rev Physiol Biochem Pharmacol. 2017;173:1-39. doi: 10.1007/112_2017_2.
|
28 |
Granulocyte-colony stimulating factor protects against endoplasmic reticulum stress in an experimental model of stroke.Brain Res. 2018 Mar 1;1682:1-13. doi: 10.1016/j.brainres.2017.12.022. Epub 2017 Dec 23.
|
29 |
Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease. Am J Hum Genet. 2011 Feb 11;88(2):226-31. doi: 10.1016/j.ajhg.2011.01.007.
|
30 |
Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain.BMC Neurosci. 2010 Apr 26;11:53. doi: 10.1186/1471-2202-11-53.
|
31 |
Proteome and behavioral alterations in phosphorylation-deficient mutant Collapsin Response Mediator Protein2 knock-in mice.Neurochem Int. 2018 Oct;119:207-217. doi: 10.1016/j.neuint.2018.04.009. Epub 2018 May 11.
|
32 |
Lack of allelic association of dopamine D4 receptor gene polymorphisms with Parkinson's disease in a Chinese population.Mov Disord. 1999 Mar;14(2):225-9. doi: 10.1002/1531-8257(199903)14:2<225::aid-mds1004>3.0.co;2-7.
|
33 |
Novel selective thiadiazine DYRK1A inhibitor lead scaffold with human pancreatic -cell proliferation activity.Eur J Med Chem. 2018 Sep 5;157:1005-1016. doi: 10.1016/j.ejmech.2018.08.007. Epub 2018 Aug 22.
|
34 |
Liraglutide attenuates the depressive- and anxiety-like behaviour in the corticosterone induced depression model via improving hippocampal neural plasticity.Brain Res. 2018 Sep 1;1694:55-62. doi: 10.1016/j.brainres.2018.04.031. Epub 2018 Apr 27.
|
35 |
Activation of the cell stress kinase PKR in Alzheimer's disease and human amyloid precursor protein transgenic mice.Neurobiol Dis. 2003 Oct;14(1):52-62. doi: 10.1016/s0969-9961(03)00086-x.
|
36 |
Genetically Encoded FRET Biosensor for Visualizing EphA4 Activity in Different Compartments of the Plasma Membrane.ACS Sens. 2019 Feb 22;4(2):294-300. doi: 10.1021/acssensors.8b00465. Epub 2019 Jan 16.
|
37 |
Current research on methamphetamine-induced neurotoxicity: animal models of monoamine disruption.J Pharmacol Sci. 2003 Jul;92(3):178-95. doi: 10.1254/jphs.92.178.
|
38 |
m6A Demethylase FTO Regulates Dopaminergic Neurotransmission Deficits Caused by Arsenite.Toxicol Sci. 2018 Oct 1;165(2):431-446. doi: 10.1093/toxsci/kfy172.
|
39 |
Candidate gene analysis in Rett syndrome and the identification of 21 SNPs in Xq.Am J Med Genet. 2000 Jan 3;90(1):69-71.
|
40 |
Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation.J Clin Invest. 2013 May;123(5):1964-75. doi: 10.1172/JCI66387. Epub 2013 Apr 15.
|
41 |
Growth associated protein (GAP-43): cloning and the development of a sensitive ELISA for neurological disorders.J Neuroimmunol. 2014 Nov 15;276(1-2):18-23. doi: 10.1016/j.jneuroim.2014.07.008. Epub 2014 Jul 23.
|
42 |
Tyrosine hydroxylase and Parkinson's disease.Mol Neurobiol. 1998 Jun;16(3):285-309. doi: 10.1007/BF02741387.
|
43 |
GAD65 autoantibody characteristics in patients with co-occurring type 1 diabetes and epilepsy may help identify underlying epilepsy etiologies.Orphanet J Rare Dis. 2018 Apr 10;13(1):55. doi: 10.1186/s13023-018-0787-5.
|
44 |
Autoantibodies in Pandemrix()-induced narcolepsy: Nine candidate autoantigens fail the conformational autoantibody test.Autoimmunity. 2019 Jun;52(4):185-191. doi: 10.1080/08916934.2019.1643843. Epub 2019 Jul 22.
|
45 |
The GluR2 (GluR-B) hypothesis: Ca(2+)-permeable AMPA receptors in neurological disorders.Trends Neurosci. 1997 Oct;20(10):464-70. doi: 10.1016/s0166-2236(97)01100-4.
|
46 |
Piperazine-2,3-dicarboxylic acid derivatives as dual antagonists of NMDA and GluK1-containing kainate receptors.J Med Chem. 2012 Jan 12;55(1):327-41. doi: 10.1021/jm201230z. Epub 2011 Dec 14.
|
47 |
Prevalence and influence of cys407* Grm2 mutation in Hannover-derived Wistar rats: mGlu2 receptor loss links to alcohol intake, risk taking and emotional behaviour.Neuropharmacology. 2017 Mar 15;115:128-138. doi: 10.1016/j.neuropharm.2016.03.020. Epub 2016 Mar 14.
|
48 |
Separate Gene Transfers into Pre- and Postsynaptic Neocortical Neurons Connected by mGluR5-Containing Synapses.J Mol Neurosci. 2019 Aug;68(4):549-564. doi: 10.1007/s12031-019-01317-9. Epub 2019 Apr 10.
|
49 |
Gastrin-releasing peptide receptor as a molecular target for psychiatric and neurological disorders.CNS Neurol Disord Drug Targets. 2006 Apr;5(2):197-204. doi: 10.2174/187152706776359673.
|
50 |
Quantitative cytochemical assessment of the neurotoxicity of misonidazole in the mouse.Br J Cancer. 1982 Apr;45(4):582-7. doi: 10.1038/bjc.1982.95.
|
51 |
Association of HAX1 deficiency with neurological disorder.Neuropediatrics. 2007 Oct;38(5):261-3. doi: 10.1055/s-2008-1062704.
|
52 |
HDAC3 inhibition prevents oxygen glucose deprivation/reoxygenation-induced transendothelial permeability by elevating PPAR activity invitro.J Neurochem. 2019 Apr;149(2):298-310. doi: 10.1111/jnc.14619. Epub 2018 Dec 3.
|
53 |
How Does Chirality Determine the Selective Inhibition of Histone Deacetylase 6? A Lesson from Trichostatin A Enantiomers Based on Molecular Dynamics.ACS Chem Neurosci. 2019 May 15;10(5):2467-2480. doi: 10.1021/acschemneuro.8b00729. Epub 2019 Feb 26.
|
54 |
PET quantification of [18F]MPPF in the canine brain using blood input and reference tissue modelling.PLoS One. 2019 Jun 11;14(6):e0218237. doi: 10.1371/journal.pone.0218237. eCollection 2019.
|
55 |
Protective effect of 5-HT7 receptor activation against glutamate-induced neurotoxicity in human neuroblastoma SH-SY5Y cells via antioxidative and antiapoptotic pathways.Neurotoxicol Teratol. 2019 Mar-Apr;72:22-28. doi: 10.1016/j.ntt.2019.01.002. Epub 2019 Jan 24.
|
56 |
Open issues in Mucopolysaccharidosis type I-Hurler.Orphanet J Rare Dis. 2017 Jun 15;12(1):112. doi: 10.1186/s13023-017-0662-9.
|
57 |
The p75 neurotrophin receptor regulates cranial irradiation-induced hippocampus-dependent cognitive dysfunction.Oncotarget. 2017 Jun 20;8(25):40544-40557. doi: 10.18632/oncotarget.16492.
|
58 |
Determining the Roles of Inositol Trisphosphate Receptors in Neurodegeneration: Interdisciplinary Perspectives on a Complex Topic.Mol Neurobiol. 2017 Nov;54(9):6870-6884. doi: 10.1007/s12035-016-0205-8. Epub 2016 Oct 22.
|
59 |
C-terminal proline deletions in KCNC3 cause delayed channel inactivation and an adult-onset progressive SCA13 with spasticity.Cerebellum. 2018 Oct;17(5):692-697. doi: 10.1007/s12311-018-0950-5.
|
60 |
Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia.Acta Neurol Belg. 2018 Dec;118(4):643-646. doi: 10.1007/s13760-018-1039-0. Epub 2018 Nov 9.
|
61 |
Thalamus Optimized Multi Atlas Segmentation (THOMAS): fast, fully automated segmentation of thalamic nuclei from structural MRI.Neuroimage. 2019 Jul 1;194:272-282. doi: 10.1016/j.neuroimage.2019.03.021. Epub 2019 Mar 17.
|
62 |
The molecular basis of mucolipidosis type IV.Curr Mol Med. 2002 Aug;2(5):445-50. doi: 10.2174/1566524023362276.
|
63 |
Identification and Development of an Irreversible Monoacylglycerol Lipase (MAGL) Positron Emission Tomography (PET) Radioligand with High Specificity.J Med Chem. 2019 Sep 26;62(18):8532-8543. doi: 10.1021/acs.jmedchem.9b00847. Epub 2019 Sep 16.
|
64 |
Sensitivity and Specificity of Diagnostic Criteria for Progressive Supranuclear Palsy.Mov Disord. 2019 Aug;34(8):1144-1153. doi: 10.1002/mds.27619. Epub 2019 Feb 6.
|
65 |
Peroxynitrite plays a role in methamphetamine-induced dopaminergic neurotoxicity: evidence from mice lacking neuronal nitric oxide synthase gene or overexpressing copper-zinc superoxide dismutase.J Neurochem. 2001 Feb;76(3):745-9. doi: 10.1046/j.1471-4159.2001.00029.x.
|
66 |
A 3-dimensional human embryonic stem cell (hESC)-derived model to detect developmental neurotoxicity of nanoparticles.Arch Toxicol. 2013 Apr;87(4):721-33. doi: 10.1007/s00204-012-0984-2. Epub 2012 Dec 2.
|
67 |
Quinone reductase 2 is a catechol quinone reductase.J Biol Chem. 2008 Aug 29;283(35):23829-35. doi: 10.1074/jbc.M801371200. Epub 2008 Jun 24.
|
68 |
Covalent Modification and Regulation of the Nuclear Receptor Nurr1 by a Dopamine Metabolite.Cell Chem Biol. 2019 May 16;26(5):674-685.e6. doi: 10.1016/j.chembiol.2019.02.002. Epub 2019 Mar 7.
|
69 |
The alpha-ketoglutarate dehydrogenase complex.Ann N Y Acad Sci. 1999;893:61-78. doi: 10.1111/j.1749-6632.1999.tb07818.x.
|
70 |
Human brain pyridoxal-5'-phosphate phosphatase (PLPP):protein transduction of PEP-1-PLPP into PC12 cells.BMB Rep. 2008 May 31;41(5):408-13. doi: 10.5483/bmbrep.2008.41.5.408.
|
71 |
Purine nucleoside phosphorylase deficiency with fatal course in two sisters.Eur J Pediatr. 2010 Mar;169(3):311-4. doi: 10.1007/s00431-009-1029-6. Epub 2009 Aug 6.
|
72 |
Interactions between neuropathy target esterase and its inhibitors and the development of polyneuropathy.Toxicol Appl Pharmacol. 1993 Oct;122(2):165-71. doi: 10.1006/taap.1993.1184.
|
73 |
Connecting Metainflammation and Neuroinflammation Through the PTN-MK-RPTP/ Axis: Relevance in Therapeutic Development.Front Pharmacol. 2019 Apr 12;10:377. doi: 10.3389/fphar.2019.00377. eCollection 2019.
|
74 |
Adaptation by alternative RNA splicing of slow troponin T isoforms in type 1 but not type 2 Charcot-Marie-Tooth disease.Am J Physiol Cell Physiol. 2008 Sep;295(3):C722-31. doi: 10.1152/ajpcell.00110.2008. Epub 2008 Jun 25.
|
75 |
MDH2 is an RNA binding protein involved in downregulation of sodium channel Scn1a expression under seizure condition.Biochim Biophys Acta Mol Basis Dis. 2017 Jun;1863(6):1492-1499. doi: 10.1016/j.bbadis.2017.04.018. Epub 2017 Apr 19.
|
76 |
Neuronal Sigma-1 Receptors: Signaling Functions and Protective Roles in Neurodegenerative Diseases.Front Neurosci. 2019 Aug 28;13:862. doi: 10.3389/fnins.2019.00862. eCollection 2019.
|
77 |
Sirtuin 2 Inhibition Attenuates Sevoflurane-Induced Learning and Memory Deficits in Developing Rats via Modulating Microglial Activation.Cell Mol Neurobiol. 2020 Apr;40(3):437-446. doi: 10.1007/s10571-019-00746-9. Epub 2019 Nov 12.
|
78 |
Brain molecular aging, promotion of neurological disease and modulation by sirtuin 5 longevity gene polymorphism.Neurobiol Dis. 2011 Feb;41(2):279-90. doi: 10.1016/j.nbd.2010.09.016. Epub 2010 Sep 29.
|
79 |
Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs.Eur J Hum Genet. 2019 Oct;27(10):1561-1568. doi: 10.1038/s41431-019-0432-3. Epub 2019 Jun 3.
|
80 |
Thiamine metabolism is critical for regulating correlated growth of dendrite arbors and neuronal somata.Sci Rep. 2017 Jul 13;7(1):5342. doi: 10.1038/s41598-017-05476-w.
|
81 |
Clustered Kv2.1 decreases dopamine transporter activity and internalization.J Biol Chem. 2019 Apr 26;294(17):6957-6971. doi: 10.1074/jbc.RA119.007441. Epub 2019 Mar 1.
|
82 |
The L-type amino acid transporter LAT1 inhibits osteoclastogenesis and maintains bone homeostasis through the mTORC1 pathway.Sci Signal. 2019 Jul 9;12(589):eaaw3921. doi: 10.1126/scisignal.aaw3921.
|
83 |
Two Disease-Causing SNAP-25B Mutations Selectively Impair SNARE C-terminal Assembly.J Mol Biol. 2018 Feb 16;430(4):479-490. doi: 10.1016/j.jmb.2017.10.012. Epub 2017 Oct 19.
|
84 |
Development of a Cell-Based Assay to Assess Binding of the proNGF Prodomain to Sortilin.Cell Mol Neurobiol. 2018 May;38(4):827-840. doi: 10.1007/s10571-017-0558-1. Epub 2017 Oct 24.
|
85 |
HPD degradation regulated by the TTC36-STK33-PELI1 signaling axis induces tyrosinemia and neurological damage.Nat Commun. 2019 Sep 19;10(1):4266. doi: 10.1038/s41467-019-12011-0.
|
86 |
Epilepsy caused by an abnormal alternative splicing with dosage effect of the SV2A gene in a chicken model.PLoS One. 2011;6(10):e26932. doi: 10.1371/journal.pone.0026932. Epub 2011 Oct 27.
|
87 |
Differences in the Plasma Proteome of Patients with Hypothyroidism before and after Thyroid Hormone Replacement: A Proteomic Analysis.Int J Mol Sci. 2018 Jan 1;19(1):88. doi: 10.3390/ijms19010088.
|
88 |
Alternative entry receptors for herpes simplex virus and their roles in disease.Cell Host Microbe. 2007 Jul 12;2(1):19-28. doi: 10.1016/j.chom.2007.06.005.
|
89 |
Topoisomerase 1B poisons: Over a half-century of drug leads, clinical candidates, and serendipitous discoveries.Med Res Rev. 2019 Jul;39(4):1294-1337. doi: 10.1002/med.21546. Epub 2018 Nov 19.
|
90 |
Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders.J Inherit Metab Dis. 2010 Dec;33(6):803-9. doi: 10.1007/s10545-010-9200-9. Epub 2010 Sep 18.
|
91 |
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.Hum Mutat. 2019 Nov;40(11):1924-1938. doi: 10.1002/humu.23860. Epub 2019 Jul 26.
|
92 |
Apolipoprotein E Is a Ligand for Triggering Receptor Expressed on Myeloid Cells 2 (TREM2).J Biol Chem. 2015 Oct 23;290(43):26043-50. doi: 10.1074/jbc.M115.679043. Epub 2015 Sep 15.
|
93 |
Ligand recognition and gating mechanism through three ligand-binding sites of human TRPM2 channel.Elife. 2019 Sep 12;8:e50175. doi: 10.7554/eLife.50175.
|
94 |
Synthesis and biological evaluation of [(18)F]fluorovinpocetine, a potential PET radioligand for TSPO imaging.Bioorg Med Chem Lett. 2019 Aug 15;29(16):2270-2274. doi: 10.1016/j.bmcl.2019.06.037. Epub 2019 Jun 20.
|
95 |
Large normal alleles of ATXN2 decrease age at onset in transthyretin familial amyloid polyneuropathy Val30Met patients.Ann Neurol. 2019 Feb;85(2):251-258. doi: 10.1002/ana.25409.
|
96 |
Increasing the frequency of peripheral component in paired associative stimulation strengthens its efficacy.Sci Rep. 2019 Mar 7;9(1):3849. doi: 10.1038/s41598-019-40474-0.
|
97 |
Ulk1 Governs Nerve Growth Factor/TrkA Signaling by Mediating Rab5 GTPase Activation in Porcine Hemagglutinating Encephalomyelitis Virus-Induced Neurodegenerative Disorders.J Virol. 2018 Jul 31;92(16):e00325-18. doi: 10.1128/JVI.00325-18. Print 2018 Aug 15.
|
98 |
Genetic background alters the severity and onset of neuromuscular disease caused by the loss of ubiquitin-specific protease 14 (usp14).PLoS One. 2013 Dec 16;8(12):e84042. doi: 10.1371/journal.pone.0084042. eCollection 2013.
|
99 |
Generation of Xeroderma Pigmentosum-A Patient-Derived Induced Pluripotent Stem Cell Line for Use As Future Disease Model.Cell Reprogram. 2015 Aug;17(4):268-74. doi: 10.1089/cell.2014.0104. Epub 2015 Jun 19.
|
100 |
The role of deubiquitinating enzymes in synaptic function and nervous system diseases.Neural Plast. 2012;2012:892749. doi: 10.1155/2012/892749. Epub 2012 Dec 18.
|
101 |
Rescue of ATXN3 neuronal toxicity in Caenorhabditiselegans by chemical modification of endoplasmic reticulum stress.Dis Model Mech. 2017 Dec 19;10(12):1465-1480. doi: 10.1242/dmm.029736.
|
102 |
Comparative analysis of microRNA and mRNA expression profiles in cells and exosomes under toluene exposure.Toxicol In Vitro. 2017 Jun;41:92-101. doi: 10.1016/j.tiv.2017.02.020. Epub 2017 Feb 27.
|
103 |
A Novel Single Nucleotide T980C Polymorphism in the Human Carboxypeptidase E Gene Results in Loss of Neuroprotective Function.PLoS One. 2017 Jan 23;12(1):e0170169. doi: 10.1371/journal.pone.0170169. eCollection 2017.
|
104 |
Epigenetic editing of the Dlg4/PSD95 gene improves cognition in aged and Alzheimer's disease mice.Brain. 2017 Dec 1;140(12):3252-3268. doi: 10.1093/brain/awx272.
|
105 |
Atomoxetine Protects Against NMDA Receptor-mediated Hippocampal Neuronal Death Following Transient Global Cerebral Ischemia.Curr Neurovasc Res. 2017;14(2):158-168. doi: 10.2174/1567202614666170328094042.
|
106 |
The Modulatory Effect of Metabotropic Glutamate Receptor Type-1 on Spike-Wave Discharges in WAG/Rij Rats.Mol Neurobiol. 2017 Mar;54(2):846-854. doi: 10.1007/s12035-016-9692-x. Epub 2016 Jan 16.
|
107 |
The effect of thermosensitive liposomal formulations on loading and release of high molecular weight biomolecules.Int J Pharm. 2017 May 30;524(1-2):279-289. doi: 10.1016/j.ijpharm.2017.03.090. Epub 2017 Apr 2.
|
108 |
Structure-Activity Relationship Studies, SPR Affinity Characterization, and Conformational Analysis of Peptides That Mimic the HNK-1 Carbohydrate Epitope.ChemMedChem. 2017 May 22;12(10):751-759. doi: 10.1002/cmdc.201700042. Epub 2017 May 3.
|
109 |
Whole Genome Expression Analysis in a Mouse Model of Tauopathy Identifies MECP2 as a Possible Regulator of Tau Pathology.Front Mol Neurosci. 2017 Mar 17;10:69. doi: 10.3389/fnmol.2017.00069. eCollection 2017.
|
110 |
PDE7-Selective and Dual Inhibitors: Advances in Chemical and Biological Research.Curr Med Chem. 2017;24(7):673-700. doi: 10.2174/0929867324666170116125159.
|
111 |
Prevention of pentylenetetrazole-induced kindling and behavioral comorbidities in mice by levetiracetam combined with the GLP-1 agonist liraglutide: Involvement of brain antioxidant and BDNF upregulating properties.Biomed Pharmacother. 2019 Jan;109:429-439. doi: 10.1016/j.biopha.2018.10.066. Epub 2018 Nov 3.
|
112 |
Multiple system atrophy prions retain strain specificity after serial propagation in two different Tg(SNCA*A53T) mouse lines.Acta Neuropathol. 2019 Mar;137(3):437-454. doi: 10.1007/s00401-019-01959-4. Epub 2019 Jan 28.
|
113 |
The role of astrocytic glutamate transporters GLT-1 and GLAST in neurological disorders: Potential targets for neurotherapeutics.Neuropharmacology. 2019 Dec 15;161:107559. doi: 10.1016/j.neuropharm.2019.03.002. Epub 2019 Mar 6.
|
114 |
Efficient RNA interference-based knockdown of mutant torsinA reveals reversibility of PERK-eIF2 pathway dysregulation in DYT1 transgenic rats in vivo.Brain Res. 2019 Mar 1;1706:24-31. doi: 10.1016/j.brainres.2018.10.025. Epub 2018 Oct 23.
|
115 |
Methotrexate-induced subacute neurotoxicity in a child with acute lymphoblastic leukemia carrying genetic polymorphisms related to folate homeostasis. Am J Hematol. 2011 Jan;86(1):98-101. doi: 10.1002/ajh.21897.
|
116 |
Targeting the PAC1 Receptor for Neurological and Metabolic Disorders.Curr Top Med Chem. 2019;19(16):1399-1417. doi: 10.2174/1568026619666190709092647.
|
117 |
Genetic factors underlying the risk of thalidomide-related neuropathy in patients with multiple myeloma. J Clin Oncol. 2011 Mar 1;29(7):797-804. doi: 10.1200/JCO.2010.28.0792. Epub 2011 Jan 18.
|
118 |
Identification of altered brain metabolites associated with TNAP activity in a mouse model of hypophosphatasia using untargeted NMR-based metabolomics analysis.J Neurochem. 2017 Mar;140(6):919-940. doi: 10.1111/jnc.13950.
|
119 |
Transient increase in sAPP secretion in response to A1-42 oligomers: an attempt of neuronal self-defense?.Neurobiol Aging. 2018 Jan;61:23-35. doi: 10.1016/j.neurobiolaging.2017.09.008. Epub 2017 Sep 19.
|
120 |
Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.Eur J Paediatr Neurol. 2017 May;21(3):450-456. doi: 10.1016/j.ejpn.2016.11.005. Epub 2016 Nov 30.
|
121 |
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.Ann Clin Transl Neurol. 2019 Aug;6(8):1395-1406. doi: 10.1002/acn3.50824. Epub 2019 Jul 11.
|
122 |
Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. Lancet Neurol. 2013 Jul;12(7):659-68. doi: 10.1016/S1474-4422(13)70053-X. Epub 2013 May 22.
|
123 |
From eyeless to neurological diseases.Exp Eye Res. 2017 Mar;156:5-9. doi: 10.1016/j.exer.2015.11.006. Epub 2015 Nov 22.
|
124 |
Dynamin-2 in nervous system disorders.J Neurochem. 2014 Jan;128(2):210-23. doi: 10.1111/jnc.12455. Epub 2013 Oct 23.
|
125 |
Targeted exome sequencing of suspected mitochondrial disorders. Neurology. 2013 May 7;80(19):1762-70. doi: 10.1212/WNL.0b013e3182918c40. Epub 2013 Apr 17.
|
126 |
Identification of a novel ANKK1 and other dopaminergic (DRD2 and DBH) gene variants in migraine susceptibility.Neuromolecular Med. 2013 Mar;15(1):61-73. doi: 10.1007/s12017-012-8195-9. Epub 2012 Aug 9.
|
127 |
Migraine comorbidity and cognitive performance in patients with focal epilepsy.Epilepsy Behav. 2019 Aug;97:29-33. doi: 10.1016/j.yebeh.2019.05.008. Epub 2019 Jun 7.
|
128 |
GAD65 as a potential marker for cognitive performance in an adult population with prediabetes.QJM. 2020 Feb 1;113(2):108-114. doi: 10.1093/qjmed/hcz239.
|
129 |
Glucocerebrosidase mutations alter the endoplasmic reticulum and lysosomes in Lewy body disease.J Neurochem. 2012 Oct;123(2):298-309. doi: 10.1111/j.1471-4159.2012.07879.x. Epub 2012 Aug 22.
|
130 |
Inhibitory effects of glucagon-like peptide-1 receptor on epilepsy.Biochem Biophys Res Commun. 2019 Mar 26;511(1):79-86. doi: 10.1016/j.bbrc.2019.02.028. Epub 2019 Feb 13.
|
131 |
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.Nat Genet. 2006 Jul;38(7):801-6. doi: 10.1038/ng1814. Epub 2006 Jun 4.
|
132 |
Chemical genomic analysis of GPR35 signaling.Integr Biol (Camb). 2017 May 22;9(5):451-463. doi: 10.1039/c7ib00005g.
|
133 |
Structure-Affinity Relationships of 2,3,4,5-Tetrahydro-1H-3-benzazepine and 6,7,8,9-Tetrahydro-5H-benzo[7]annulen-7-amine Analogues and the Discovery of a Radiofluorinated 2,3,4,5-Tetrahydro-1H-3-benzazepine Congener for Imaging GluN2B Subunit-Containing N-Methyl-d-aspartate Receptors.J Med Chem. 2019 Nov 14;62(21):9450-9470. doi: 10.1021/acs.jmedchem.9b00812. Epub 2019 Oct 28.
|
134 |
HSP22 and its role in human neurological disease.Curr Neurovasc Res. 2011 Nov;8(4):323-33. doi: 10.2174/156720211798121034.
|
135 |
Normalizing glucocorticoid levels attenuates metabolic and neuropathological symptoms in the R6/2 mouse model of huntington's disease.Neurobiol Dis. 2019 Jan;121:214-229. doi: 10.1016/j.nbd.2018.09.025. Epub 2018 Oct 5.
|
136 |
Lumbar Cerebrospinal Fluid Biomarkers of Posthemorrhagic Hydrocephalus of Prematurity: Amyloid Precursor Protein, Soluble Amyloid Precursor Protein , and L1 Cell Adhesion Molecule.Neurosurgery. 2017 Jan 1;80(1):82-90. doi: 10.1227/NEU.0000000000001415.
|
137 |
Agreement of amyloid PET and CSF biomarkers for Alzheimer's disease on Lumipulse.Ann Clin Transl Neurol. 2019 Sep;6(9):1815-1824. doi: 10.1002/acn3.50873. Epub 2019 Aug 28.
|
138 |
Mesencephalic astrocyte-derived neurotrophic factor (MANF) protects against A toxicity via attenuating A-induced endoplasmic reticulum stress.J Neuroinflammation. 2019 Feb 13;16(1):35. doi: 10.1186/s12974-019-1429-0.
|
139 |
Increased expression of monoamine oxidase A is associated with epithelial to mesenchymal transition and clinicopathological features in non-small cell lung cancer.Oncol Lett. 2018 Mar;15(3):3245-3251. doi: 10.3892/ol.2017.7683. Epub 2017 Dec 21.
|
140 |
Neuroinflammation in Neurodegenerative Disorders-a Review.Curr Neurol Neurosci Rep. 2017 Mar;17(3):25. doi: 10.1007/s11910-017-0733-2.
|
141 |
MAPT (Tau) expression is a biomarker for an increased rate of survival for lowgrade glioma.Oncol Rep. 2019 Feb;41(2):1359-1366. doi: 10.3892/or.2018.6896. Epub 2018 Nov 28.
|
142 |
Fat-Specific Knockout of Mecp2 Upregulates Slpi to Reduce Obesity by Enhancing Browning.Diabetes. 2020 Jan;69(1):35-47. doi: 10.2337/db19-0502. Epub 2019 Oct 9.
|
143 |
ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis.Mol Genet Metab. 2019 May;127(1):95-106. doi: 10.1016/j.ymgme.2018.11.015. Epub 2019 Mar 27.
|
144 |
Association of NOS1 gene polymorphisms with cerebral palsy in a Han Chinese population: a case-control study.BMC Med Genomics. 2018 Jun 25;11(1):56. doi: 10.1186/s12920-018-0374-6.
|
145 |
NPTX2 promotes colorectal cancer growth and liver metastasis by the activation of the canonical Wnt/-catenin pathway via FZD6.Cell Death Dis. 2019 Mar 4;10(3):217. doi: 10.1038/s41419-019-1467-7.
|
146 |
AAV1.NT-3 gene therapy for charcot-marie-tooth neuropathy.Mol Ther. 2014 Mar;22(3):511-521. doi: 10.1038/mt.2013.250. Epub 2013 Oct 28.
|
147 |
The P2X7 purinergic receptor: An emerging therapeutic target in cardiovascular diseases.Clin Chim Acta. 2018 Apr;479:196-207. doi: 10.1016/j.cca.2018.01.032. Epub 2018 Jan 31.
|
148 |
HPRT-deficiency dysregulates cAMP-PKA signaling and phosphodiesterase 10A expression: mechanistic insight and potential target for Lesch-Nyhan Disease?.PLoS One. 2013 May 14;8(5):e63333. doi: 10.1371/journal.pone.0063333. Print 2013.
|
149 |
Rare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia-oculomotor apraxia 4 and pilocytic astrocytoma.Clin Genet. 2018 Jul;94(1):185-186. doi: 10.1111/cge.13216. Epub 2018 Mar 2.
|
150 |
NQO1: A target for the treatment of cancer and neurological diseases, and a model to understand loss of function disease mechanisms.Biochim Biophys Acta Proteins Proteom. 2019 Jul-Aug;1867(7-8):663-676. doi: 10.1016/j.bbapap.2019.05.002. Epub 2019 May 12.
|
151 |
Absence of regulator of G-protein signaling 4 does not protect against dopamine neuron dysfunction and injury in the mouse 6-hydroxydopamine lesion model of Parkinson's disease.Neurobiol Aging. 2017 Oct;58:30-33. doi: 10.1016/j.neurobiolaging.2017.06.008. Epub 2017 Jun 19.
|
152 |
Clinical and genetic spectrum of SCN2A-associated episodic ataxia.Eur J Paediatr Neurol. 2019 May;23(3):438-447. doi: 10.1016/j.ejpn.2019.03.001. Epub 2019 Mar 7.
|
153 |
Review of the Current Knowledge on the Role of Stem Cell Transplantation in Neurorehabilitation.Biomed Res Int. 2019 Feb 25;2019:3290894. doi: 10.1155/2019/3290894. eCollection 2019.
|
154 |
Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria. J Clin Invest. 2011 Jan;121(1):446-53.
|
155 |
Arundic Acid Increases Expression and Function of Astrocytic Glutamate Transporter EAAT1 Via the ERK, Akt, and NF-B Pathways.Mol Neurobiol. 2018 Jun;55(6):5031-5046. doi: 10.1007/s12035-017-0709-x. Epub 2017 Aug 15.
|
156 |
Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes.J Neurol. 2019 Jun;266(6):1439-1448. doi: 10.1007/s00415-019-09280-6. Epub 2019 Mar 20.
|
157 |
The P429L loss of function mutation of the human glycine transporter 2 associated with hyperekplexia.Eur J Neurosci. 2019 Dec;50(12):3906-3920. doi: 10.1111/ejn.14533. Epub 2019 Sep 5.
|
158 |
Human cytomegalovirus downregulates SLITRK6 expression through IE2.J Neurovirol. 2017 Feb;23(1):79-86. doi: 10.1007/s13365-016-0475-y. Epub 2016 Aug 16.
|
159 |
Mechanisms and Disease Associations of Haplotype-Dependent Allele-Specific DNA Methylation.Am J Hum Genet. 2016 May 5;98(5):934-955. doi: 10.1016/j.ajhg.2016.03.027.
|
160 |
CCAAT/enhancer binding protein is a transcriptional repressor of -synuclein.Cell Death Differ. 2020 Feb;27(2):509-524. doi: 10.1038/s41418-019-0368-8. Epub 2019 Jun 17.
|
161 |
Caspase-4 mediates cytoplasmic accumulation of TDP-43 in the primate brains.Acta Neuropathol. 2019 Jun;137(6):919-937. doi: 10.1007/s00401-019-01979-0. Epub 2019 Feb 27.
|
162 |
Identification of novel inhibitors for the tyrosyl-DNA-phosphodiesterase 1 (Tdp1) mutant SCAN1 using virtual screening.Bioorg Med Chem. 2020 Jan 1;28(1):115234. doi: 10.1016/j.bmc.2019.115234. Epub 2019 Nov 30.
|
163 |
Lack of association between single-nucleotide polymorphisms of pro- and anti-inflammatory cytokines and HTLV-1-associated myelopathy / tropical spastic paraparesis development in patients from Rio de Janeiro, Brazil.BMC Infect Dis. 2018 Nov 22;18(1):593. doi: 10.1186/s12879-018-3510-1.
|
164 |
Detailed Dissection of UBE3A-Mediated DDI1 Ubiquitination.Front Physiol. 2019 May 3;10:534. doi: 10.3389/fphys.2019.00534. eCollection 2019.
|
165 |
Medicinal plants with acetylcholinesterase inhibitory activity.Rev Neurosci. 2018 Jul 26;29(5):491-529. doi: 10.1515/revneuro-2017-0054.
|
166 |
Regulation of ADAM10 by MicroRNA-23a Contributes to Epileptogenesis in Pilocarpine-Induced Status Epilepticus Mice.Front Cell Neurosci. 2019 Apr 30;13:180. doi: 10.3389/fncel.2019.00180. eCollection 2019.
|
167 |
The polarity protein Angiomotin p130 controls dendritic spine maturation.J Cell Biol. 2018 Feb 5;217(2):715-730. doi: 10.1083/jcb.201705184. Epub 2018 Jan 9.
|
168 |
Natural cholinesterase inhibitors from marine organisms.Nat Prod Rep. 2019 Aug 1;36(8):1053-1092. doi: 10.1039/c9np00010k. Epub 2019 Mar 29.
|
169 |
Hypothesis: Is there a link between the immune response to Human Herpes Virus type 6 (HHV-6) infection and the interaction network (interactome) of the genes encoding the CTSS, PTX3, CHI3L1, Mx1, CXCL16, BIRC3 and BST2 proteins?.Med Hypotheses. 2018 Mar;112:47-50. doi: 10.1016/j.mehy.2018.01.011. Epub 2018 Jan 31.
|
170 |
Activation of caspase-6 and cleavage of caspase-6 substrates is an early event in NMDA receptor-mediated excitotoxicity.J Neurosci Res. 2018 Mar;96(3):391-406. doi: 10.1002/jnr.24153. Epub 2017 Nov 29.
|
171 |
Targeting microglia attenuates neuroinflammation-related neural damage in mice carrying human PLP1 mutations.Glia. 2019 Feb;67(2):277-290. doi: 10.1002/glia.23539. Epub 2018 Nov 22.
|
172 |
RNA recognition motifs of disease-linked RNA-binding proteins contribute to amyloid formation.Sci Rep. 2019 Apr 16;9(1):6171. doi: 10.1038/s41598-019-42367-8.
|
173 |
Peripheral markers of the gamma-aminobutyric acid (GABA)ergic system in Angelman's syndrome.J Child Neurol. 2003 Jan;18(1):21-5. doi: 10.1177/08830738030180010801.
|
174 |
Astrocytic damage in glial fibrillary acidic protein astrocytopathy during initial attack.Mult Scler Relat Disord. 2019 Apr;29:94-99. doi: 10.1016/j.msard.2019.01.036. Epub 2019 Jan 24.
|
175 |
Recent progress in allosteric modulators for GluN2A subunit and development of GluN2A-selective nuclear imaging probes.J Labelled Comp Radiopharm. 2019 Jun 30;62(8):552-560. doi: 10.1002/jlcr.3744.
|
176 |
A Blood-Brain-Barrier-Penetrating Anti-human Transferrin Receptor Antibody Fusion Protein for Neuronopathic Mucopolysaccharidosis II.Mol Ther. 2018 May 2;26(5):1366-1374. doi: 10.1016/j.ymthe.2018.02.032. Epub 2018 Mar 6.
|
177 |
Biochemistry and structural studies of kynurenine 3-monooxygenase reveal allosteric inhibition by Ro 61-8048.FASEB J. 2018 Apr;32(4):2036-2045. doi: 10.1096/fj.201700397RR. Epub 2018 Jan 5.
|
178 |
New insights into the structural dynamics of the kinase JNK3.Sci Rep. 2018 Jun 21;8(1):9435. doi: 10.1038/s41598-018-27867-3.
|
179 |
Myelin oligodendrocyte glycoprotein antibodies in neurological disease.Nat Rev Neurol. 2019 Feb;15(2):89-102. doi: 10.1038/s41582-018-0112-x.
|
180 |
Heterogeneity of GRIM-19 Expression in the Adult Mouse Brain.Cell Mol Neurobiol. 2019 Oct;39(7):935-951. doi: 10.1007/s10571-019-00689-1. Epub 2019 May 21.
|
181 |
Thermoresponsive- co-Biodegradable Linear-Dendritic Nanoparticles for Sustained Release of Nerve Growth Factor To Promote Neurite Outgrowth.Mol Pharm. 2018 Apr 2;15(4):1467-1475. doi: 10.1021/acs.molpharmaceut.7b01044. Epub 2018 Mar 6.
|
182 |
Metabolic stroke in a patient with bi-allelic OPA1 mutations.Metab Brain Dis. 2019 Aug;34(4):1043-1048. doi: 10.1007/s11011-019-00415-2. Epub 2019 Apr 10.
|
183 |
The role of P2Y6 receptors in the maintenance of neuropathic pain and its improvement of oxidative stress in rats.J Cell Biochem. 2019 Oct;120(10):17123-17130. doi: 10.1002/jcb.28972. Epub 2019 May 20.
|
184 |
The contribution of multicellular model organisms to neuronal ceroid lipofuscinosis research.Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165614. doi: 10.1016/j.bbadis.2019.165614. Epub 2019 Nov 26.
|
185 |
Investigation of novel chemical scaffolds targeting prolyl oligopeptidase for neurological therapeutics.J Mol Graph Model. 2019 May;88:92-103. doi: 10.1016/j.jmgm.2018.12.006. Epub 2018 Dec 13.
|
186 |
The structure of the human glutaminyl cyclase-SEN177 complex indicates routes for developing new potent inhibitors as possible agents for the treatment of neurological disorders.J Biol Inorg Chem. 2018 Dec;23(8):1219-1226. doi: 10.1007/s00775-018-1605-1. Epub 2018 Aug 21.
|
187 |
Rab7 may be a novel therapeutic target for neurologic diseases as a key regulator in autophagy.J Neurosci Res. 2017 Oct;95(10):1993-2004. doi: 10.1002/jnr.24034. Epub 2017 Feb 10.
|
188 |
Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A.Mol Genet Genomic Med. 2018 May;6(3):434-440. doi: 10.1002/mgg3.370. Epub 2018 Feb 14.
|
189 |
Distinct but overlapping binding sites of agonist and antagonist at the relaxin family peptide 3 (RXFP3) receptor.J Biol Chem. 2018 Oct 12;293(41):15777-15789. doi: 10.1074/jbc.RA118.002645. Epub 2018 Aug 21.
|
190 |
Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus.Hum Mutat. 2018 Jul;39(7):965-969. doi: 10.1002/humu.23547. Epub 2018 May 17.
|
191 |
The Role of Semaphorin 4D in Bone Remodeling and Cancer Metastasis.Front Endocrinol (Lausanne). 2018 Jun 19;9:322. doi: 10.3389/fendo.2018.00322. eCollection 2018.
|
192 |
Pharmacological enhancement of KCC2 gene expression exerts therapeutic effects on human Rett syndrome neurons and Mecp2 mutant mice.Sci Transl Med. 2019 Jul 31;11(503):eaau0164. doi: 10.1126/scitranslmed.aau0164.
|
193 |
Structure, Function, and Modulation of -Aminobutyric Acid Transporter 1 (GAT1) in Neurological Disorders: A Pharmacoinformatic Prospective.Front Chem. 2018 Sep 11;6:397. doi: 10.3389/fchem.2018.00397. eCollection 2018.
|
194 |
New Therapeutic Property of Dimebon as a Neuroprotective Agent.Curr Med Chem. 2018;25(39):5315-5326. doi: 10.2174/0929867323666160804122746.
|
195 |
Emerging Magnetic Resonance Imaging Techniques and Analysis Methods in Amyotrophic Lateral Sclerosis.Front Neurol. 2018 Dec 4;9:1065. doi: 10.3389/fneur.2018.01065. eCollection 2018.
|
196 |
Technology-enabled comprehensive characterization of multiple sclerosis in clinical practice.Mult Scler Relat Disord. 2020 Feb;38:101525. doi: 10.1016/j.msard.2019.101525. Epub 2019 Nov 14.
|
197 |
Behavioral Effects of a Potential Novel TAAR1 Antagonist.Front Pharmacol. 2018 Sep 4;9:953. doi: 10.3389/fphar.2018.00953. eCollection 2018.
|
198 |
Gold nanoparticles - an optical biosensor for RNA quantification for cancer and neurologic disorders diagnosis.Int J Nanomedicine. 2018 Nov 29;13:8137-8151. doi: 10.2147/IJN.S181732. eCollection 2018.
|
199 |
New piperidine-based derivatives as sigma receptor ligands. Synthesis and pharmacological evaluation.Bioorg Med Chem Lett. 2018 Oct 15;28(19):3206-3209. doi: 10.1016/j.bmcl.2018.08.016. Epub 2018 Aug 15.
|
200 |
Tool inhibitors and assays to interrogate the biology of the TRAF2 and NCK interacting kinase.Bioorg Med Chem Lett. 2019 Aug 1;29(15):1962-1967. doi: 10.1016/j.bmcl.2019.05.032. Epub 2019 May 18.
|
201 |
Structure-function analyses of the ion channel TRPC3 reveal that its cytoplasmic domain allosterically modulates channel gating.J Biol Chem. 2018 Oct 12;293(41):16102-16114. doi: 10.1074/jbc.RA118.005066. Epub 2018 Aug 23.
|
202 |
A TRPV2 interactome-based signature for prognosis in glioblastoma patients.Oncotarget. 2018 Apr 6;9(26):18400-18409. doi: 10.18632/oncotarget.24843. eCollection 2018 Apr 6.
|
203 |
Role of UCHL1 in axonal injury and functional recovery after cerebral ischemia.Proc Natl Acad Sci U S A. 2019 Mar 5;116(10):4643-4650. doi: 10.1073/pnas.1821282116. Epub 2019 Feb 13.
|
204 |
Crystal structure of the catalytic D2 domain of the AAA+ ATPase p97 reveals a putative helical split-washer-type mechanism for substrate unfolding.FEBS Lett. 2020 Mar;594(5):933-943. doi: 10.1002/1873-3468.13667. Epub 2019 Nov 22.
|
205 |
ABCA2 as a therapeutic target in cancer and nervous system disorders.Expert Opin Ther Targets. 2008 Apr;12(4):491-504. doi: 10.1517/14728222.12.4.491.
|
206 |
The effects of neurological disorder-related codon variations of ABCA13 on the function of the ABC protein.Biosci Biotechnol Biochem. 2012;76(12):2289-93. doi: 10.1271/bbb.120563. Epub 2012 Dec 7.
|
207 |
SOD2 as a potential modifier of X-linked adrenoleukodystrophy clinical phenotypes.J Neurol. 2012 Jul;259(7):1440-7. doi: 10.1007/s00415-011-6371-8. Epub 2012 Jan 5.
|
208 |
Off-Label Use of Bumetanide for Brain Disorders: An Overview.Front Neurosci. 2019 Apr 24;13:310. doi: 10.3389/fnins.2019.00310. eCollection 2019.
|
209 |
Human immunodeficiency virus type-1 protein Tat induces tumor necrosis factor-alpha-mediated neurotoxicity.Neurobiol Dis. 2007 Jun;26(3):661-70. doi: 10.1016/j.nbd.2007.03.004. Epub 2007 Mar 20.
|
210 |
Physiological Roles of Carnitine/Organic Cation Transporter OCTN1/SLC22A4 in Neural Cells.Biol Pharm Bull. 2017;40(8):1146-1152. doi: 10.1248/bpb.b17-00099.
|
211 |
Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy.Neurogenetics. 2017 Jan;18(1):57-61. doi: 10.1007/s10048-016-0507-z. Epub 2017 Jan 5.
|
212 |
Appoptosin-Mediated Caspase Cleavage of Tau Contributes to Progressive Supranuclear Palsy Pathogenesis.Neuron. 2015 Sep 2;87(5):963-75. doi: 10.1016/j.neuron.2015.08.020.
|
213 |
Genomic structure of human anion exchanger 3 and its potential role in hereditary neurological disease.Neurogenetics. 1998 Aug;1(4):289-92. doi: 10.1007/s100480050043.
|
214 |
Identification of common genetic markers of paroxysmal neurological disorders using a network analysis approach.Neurol Sci. 2020 Apr;41(4):851-857. doi: 10.1007/s10072-019-04113-w. Epub 2019 Dec 6.
|
215 |
The Na(+)(K(+))/H(+) exchanger Nhx1 controls multivesicular body-vacuolar lysosome fusion.Mol Biol Cell. 2018 Feb 1;29(3):317-325. doi: 10.1091/mbc.E17-08-0496. Epub 2017 Dec 6.
|
216 |
VGluT1 Deficiency Impairs Visual Attention and Reduces the Dynamic Range of Short-Term Plasticity at Corticothalamic Synapses.Cereb Cortex. 2020 Mar 14;30(3):1813-1829. doi: 10.1093/cercor/bhz204.
|
217 |
Genetic Disorders of Manganese Metabolism.Curr Neurol Neurosci Rep. 2019 May 14;19(6):33. doi: 10.1007/s11910-019-0942-y.
|
218 |
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.J Inherit Metab Dis. 2012 Nov;35(6):943-8. doi: 10.1007/s10545-012-9513-y. Epub 2012 Aug 3.
|
219 |
Benzylamides and piperazinoarylamides of ibuprofen as fatty acid amide hydrolase inhibitors.J Enzyme Inhib Med Chem. 2019 Dec;34(1):562-576. doi: 10.1080/14756366.2018.1532418.
|
220 |
Longitudinal evaluation of iron concentration and atrophy in the dentate nuclei in friedreich ataxia.Mov Disord. 2019 Mar;34(3):335-343. doi: 10.1002/mds.27606. Epub 2019 Jan 9.
|
221 |
A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.BMC Med Genet. 2009 Sep 3;10:84. doi: 10.1186/1471-2350-10-84.
|
222 |
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.Nat Genet. 2012 Sep;44(9):1035-9. doi: 10.1038/ng.2356. Epub 2012 Jul 29.
|
223 |
Knockdown of cytosolic 5'-nucleotidase II (cN-II) reveals that its activity is essential for survival in astrocytoma cells.Biochim Biophys Acta. 2008 Aug;1783(8):1529-35. doi: 10.1016/j.bbamcr.2008.03.018. Epub 2008 Apr 10.
|
224 |
Human-specific endogenous retroviral insert serves as an enhancer for the schizophrenia-linked gene PRODH.Proc Natl Acad Sci U S A. 2013 Nov 26;110(48):19472-7. doi: 10.1073/pnas.1318172110. Epub 2013 Nov 11.
|
225 |
Autoantibodies in gluten ataxia recognize a novel neuronal transglutaminase.Ann Neurol. 2008 Sep;64(3):332-43. doi: 10.1002/ana.21450.
|
226 |
Cellular and Molecular Mechanisms of Recessive Hereditary Methaemoglobinaemia Type II.J Clin Med. 2018 Oct 10;7(10):341. doi: 10.3390/jcm7100341.
|
227 |
Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis.Hum Genet. 2017 Jun;136(6):705-714. doi: 10.1007/s00439-017-1784-9. Epub 2017 Mar 23.
|
228 |
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet. 2008 Feb;82(2):432-43. doi: 10.1016/j.ajhg.2007.11.002. Epub 2008 Jan 24.
|
229 |
The crystal structure of human GlnRS provides basis for the development of neurological disorders.Nucleic Acids Res. 2016 Apr 20;44(7):3420-31. doi: 10.1093/nar/gkw082. Epub 2016 Feb 10.
|
230 |
Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency.Mol Genet Metab. 2019 Jun;127(2):147-157. doi: 10.1016/j.ymgme.2019.06.001. Epub 2019 Jun 3.
|
231 |
Screening with an NMNAT2-MSD platform identifies small molecules that modulate NMNAT2 levels in cortical neurons.Sci Rep. 2017 Mar 7;7:43846. doi: 10.1038/srep43846.
|
232 |
Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients.Mol Genet Metab. 2016 Jul;118(3):185-189. doi: 10.1016/j.ymgme.2016.05.005. Epub 2016 May 13.
|
233 |
Genome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21.Diabetes. 2013 Mar;62(3):977-86. doi: 10.2337/db12-0406. Epub 2012 Dec 3.
|
234 |
Inhibition of defective adenylosuccinate lyase by HNE: a neurological disease that may be affected by oxidative stress.Biofactors. 2005;24(1-4):131-6. doi: 10.1002/biof.5520240115.
|
235 |
Loss of Ranbp2 in motoneurons causes disruption of nucleocytoplasmic and chemokine signaling, proteostasis of hnRNPH3 and Mmp28, and development of amyotrophic lateral sclerosis-like syndromes.Dis Model Mech. 2017 May 1;10(5):559-579. doi: 10.1242/dmm.027730. Epub 2017 Jan 18.
|
236 |
Ma1, a novel neuron- and testis-specific protein, is recognized by the serum of patients with paraneoplastic neurological disorders.Brain. 1999 Jan;122 ( Pt 1):27-39. doi: 10.1093/brain/122.1.27.
|
237 |
Biozzi mice: of mice and human neurological diseases.J Neuroimmunol. 2005 Aug;165(1-2):1-10. doi: 10.1016/j.jneuroim.2005.04.010.
|
238 |
Chromosomal localization of the ankyrinG gene (ANK3/Ank3) to human 10q21 and mouse 10.Genomics. 1995 May 1;27(1):189-91. doi: 10.1006/geno.1995.1023.
|
239 |
Apolipoprotein D takes center stage in the stress response of the aging and degenerative brain.Neurobiol Aging. 2014 Jul;35(7):1632-42. doi: 10.1016/j.neurobiolaging.2014.01.148. Epub 2014 Feb 5.
|
240 |
Neurodegeneration: nicked to death.Curr Biol. 2007 Jan 23;17(2):R55-8. doi: 10.1016/j.cub.2006.12.012.
|
241 |
Acid-sensing ion channel (ASIC) 4 gene: physical mapping, genomic organisation, and evaluation as a candidate for paroxysmal dystonia.Eur J Hum Genet. 2001 Sep;9(9):672-6. doi: 10.1038/sj.ejhg.5200699.
|
242 |
A hereditary spastic paraplegia-associated atlastin variant exhibits defective allosteric coupling in the catalytic core.J Biol Chem. 2018 Jan 12;293(2):687-700. doi: 10.1074/jbc.RA117.000380. Epub 2017 Nov 27.
|
243 |
Early infantile-onset Leigh syndrome complicated with infantile spasms associated with the m.9185T?C variant in the MT-ATP6 gene: Expanding the clinical spectrum.Brain Dev. 2020 Jan;42(1):69-72. doi: 10.1016/j.braindev.2019.08.006. Epub 2019 Sep 26.
|
244 |
No Association between the Polymorphism rs6943555 in the AUTS2 Gene and Personality Traits in Japanese University Students.Psychiatry Investig. 2017 Sep;14(5):681-686. doi: 10.4306/pi.2017.14.5.681. Epub 2017 Sep 11.
|
245 |
Dominant-negative SMARCA4 mutants alter the accessibility landscape of tissue-unrestricted enhancers.Nat Struct Mol Biol. 2018 Jan;25(1):61-72. doi: 10.1038/s41594-017-0007-3. Epub 2017 Dec 11.
|
246 |
Mutations in cytoplasmic dynein and its regulators cause malformations of cortical development and neurodegenerative diseases.Biochem Soc Trans. 2013 Dec;41(6):1605-12. doi: 10.1042/BST20130188.
|
247 |
Epigenome-Wide Association Study of Tic Disorders.Twin Res Hum Genet. 2015 Dec;18(6):699-709. doi: 10.1017/thg.2015.72. Epub 2015 Oct 26.
|
248 |
SNPs in CAST are associated with Parkinson disease: a confirmation study.Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 5;153B(4):973-9. doi: 10.1002/ajmg.b.31061.
|
249 |
High expression of CD244 and SAP regulated CD8 T cell responses of patients with HTLV-I associated neurologic disease.PLoS Pathog. 2009 Dec;5(12):e1000682. doi: 10.1371/journal.ppat.1000682. Epub 2009 Dec 4.
|
250 |
The role of CELF proteins in neurological disorders.RNA Biol. 2010 Jul-Aug;7(4):474-9. doi: 10.4161/rna.7.4.12345. Epub 2010 Jul 1.
|
251 |
CELF4 regulates translation and local abundance of a vast set of mRNAs, including genes associated with regulation of synaptic function.PLoS Genet. 2012;8(11):e1003067. doi: 10.1371/journal.pgen.1003067. Epub 2012 Nov 29.
|
252 |
Analysis of Oligomerization Properties of Heme a Synthase Provides Insights into Its Function in Eukaryotes.J Biol Chem. 2016 May 6;291(19):10411-25. doi: 10.1074/jbc.M115.707539. Epub 2016 Mar 3.
|
253 |
Coexistence of Copper in the Iron-Rich Particles of Aceruloplasminemia Brain.Biol Trace Elem Res. 2017 Jan;175(1):79-86. doi: 10.1007/s12011-016-0744-x. Epub 2016 Jun 7.
|
254 |
Cytoplasmic polyadenylation element binding proteins in development, health, and disease.Annu Rev Cell Dev Biol. 2014;30:393-415. doi: 10.1146/annurev-cellbio-101011-155831. Epub 2014 Jul 14.
|
255 |
Multisystem analyses of two Cockayne syndrome associated proteins CSA and CSB reveal shared and unique functions.DNA Repair (Amst). 2019 Nov;83:102696. doi: 10.1016/j.dnarep.2019.102696. Epub 2019 Sep 12.
|
256 |
Protein aggregation as a possible cause for pathology in a subset of familial Unverricht-Lundborg disease.Med Hypotheses. 2005;64(5):955-9. doi: 10.1016/j.mehy.2004.11.038.
|
257 |
CTCF Governs the Identity and Migration of MGE-Derived Cortical Interneurons.J Neurosci. 2019 Jan 2;39(1):177-192. doi: 10.1523/JNEUROSCI.3496-17.2018. Epub 2018 Oct 30.
|
258 |
The methyl-CpG-binding protein MeCP2 and neurological disease.Biochem Soc Trans. 2008 Aug;36(Pt 4):575-83. doi: 10.1042/BST0360575.
|
259 |
Autism and Schizophrenia-Associated CYFIP1 Regulates the Balance of Synaptic Excitation and Inhibition.Cell Rep. 2019 Feb 19;26(8):2037-2051.e6. doi: 10.1016/j.celrep.2019.01.092.
|
260 |
Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene.Mol Cell Probes. 2015 Oct;29(5):319-22. doi: 10.1016/j.mcp.2015.06.005. Epub 2015 Aug 29.
|
261 |
Synaptic dysfunction and disruption of postsynaptic drebrin-actin complex: a study of neurological disorders accompanied by cognitive deficits.Neurosci Res. 2007 May;58(1):1-5. doi: 10.1016/j.neures.2007.02.003. Epub 2007 Feb 11.
|
262 |
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.Hum Mutat. 2019 May;40(5):601-618. doi: 10.1002/humu.23729. Epub 2019 Mar 9.
|
263 |
Exploring the transcriptome of ciliated cells using in silico dissection of human tissues.PLoS One. 2012;7(4):e35618. doi: 10.1371/journal.pone.0035618. Epub 2012 Apr 25.
|
264 |
Bullous pemphigoid in a leg affected with hemiparesia: a possible relation of neurological diseases with bullous pemphigoid?.Eur J Dermatol. 2001 May-Jun;11(3):230-3.
|
265 |
The schizophrenia susceptibility gene dysbindin controls synaptic homeostasis.Science. 2009 Nov 20;326(5956):1127-30. doi: 10.1126/science.1179685.
|
266 |
Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions.Exp Dermatol. 2006 Apr;15(4):300-7. doi: 10.1111/j.0906-6705.2006.00409.x.
|
267 |
eIF2B: recent structural and functional insights into a key regulator of translation.Biochem Soc Trans. 2015 Dec;43(6):1234-40. doi: 10.1042/BST20150164.
|
268 |
Different Mutations in ELOVL4 Affect Very Long Chain Fatty Acid Biosynthesis to Cause Variable Neurological Disorders in Humans.Adv Exp Med Biol. 2016;854:129-35. doi: 10.1007/978-3-319-17121-0_18.
|
269 |
Engrailed protects mouse midbrain dopaminergic neurons against mitochondrial complex I insults.Nat Neurosci. 2011 Sep 4;14(10):1260-6. doi: 10.1038/nn.2916.
|
270 |
1.39 Mb inherited interstitial deletion in 12p13.33 associated with developmental delay.Eur J Med Genet. 2011 Mar-Apr;54(2):198-203. doi: 10.1016/j.ejmg.2010.11.010. Epub 2010 Dec 7.
|
271 |
A possible cranio-oro-facial phenotype in Cockayne syndrome.Orphanet J Rare Dis. 2013 Jan 14;8:9. doi: 10.1186/1750-1172-8-9.
|
272 |
Overexpression of FABP7 in Down syndrome fetal brains is associated with PKNOX1 gene-dosage imbalance.Nucleic Acids Res. 2003 Jun 1;31(11):2769-77. doi: 10.1093/nar/gkg396.
|
273 |
Gene expression changes for antioxidants pathways in the mouse cochlea: relations to age-related hearing deficits.PLoS One. 2014 Feb 28;9(2):e90279. doi: 10.1371/journal.pone.0090279. eCollection 2014.
|
274 |
Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability.BMC Med Genomics. 2018 Dec 19;11(1):123. doi: 10.1186/s12920-018-0446-7.
|
275 |
FKHL15, a new human member of the forkhead gene family located on chromosome 9q22.Genomics. 1997 May 1;41(3):390-6. doi: 10.1006/geno.1997.4692.
|
276 |
The speech and language FOXP2 gene modulates the phenotype of frontotemporal lobar degeneration.J Alzheimers Dis. 2010;22(3):923-31. doi: 10.3233/JAD-2010-101206.
|
277 |
Nuclear magnetic resonance spectroscopy in glutaryl-CoA dehydrogenase deficiency.J Inherit Metab Dis. 2004;27(6):877-83. doi: 10.1023/B:BOLI.0000045772.09776.e0.
|
278 |
Analysis of the genomic structure of the human glycine receptor alpha2 subunit gene and exclusion of this gene as a candidate for Rett syndrome.Am J Med Genet. 1998 Jun 30;78(2):176-8.
|
279 |
Neurological aspects of hyperinsulinism-hyperammonaemia syndrome.Dev Med Child Neurol. 2008 Dec;50(12):945-9. doi: 10.1111/j.1469-8749.2008.03114.x.
|
280 |
Identification of Novel FAM134B (JK1) Mutations in Oesophageal Squamous Cell Carcinoma.Sci Rep. 2016 Jul 4;6:29173. doi: 10.1038/srep29173.
|
281 |
Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.Proc Natl Acad Sci U S A. 2016 Sep 20;113(38):E5598-607. doi: 10.1073/pnas.1609221113. Epub 2016 Sep 6.
|
282 |
Influence of the NR3A subunit on NMDA receptor functions.Prog Neurobiol. 2010 May;91(1):23-37. doi: 10.1016/j.pneurobio.2010.01.004. Epub 2010 Jan 25.
|
283 |
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.Eur J Hum Genet. 2018 Apr;26(4):592-598. doi: 10.1038/s41431-018-0097-3. Epub 2018 Feb 15.
|
284 |
Brain-specific deletion of histone variant H2A.z results in cortical neurogenesis defects and neurodevelopmental disorder.Nucleic Acids Res. 2018 Mar 16;46(5):2290-2307. doi: 10.1093/nar/gkx1295.
|
285 |
Hypertonia-associated protein Trak1 is a novel regulator of endosome-to-lysosome trafficking.J Mol Biol. 2008 Oct 10;382(3):638-51. doi: 10.1016/j.jmb.2008.07.045. Epub 2008 Jul 25.
|
286 |
Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.Am J Hum Genet. 2010 Dec 10;87(6):857-65. doi: 10.1016/j.ajhg.2010.10.019. Epub 2010 Nov 25.
|
287 |
Expanding the clinical phenotype of IARS2-related mitochondrial disease.BMC Med Genet. 2018 Nov 12;19(1):196. doi: 10.1186/s12881-018-0709-3.
|
288 |
Anti-IgLON 5 Disease.Curr Treat Options Neurol. 2018 Jun 23;20(8):29. doi: 10.1007/s11940-018-0515-4.
|
289 |
Tenofovir disoproxil fumarate induces peripheral neuropathy and alters inflammation and mitochondrial biogenesis in the brains of mice.Sci Rep. 2019 Nov 20;9(1):17158. doi: 10.1038/s41598-019-53466-x.
|
290 |
Phospholipases A2 and inflammatory responses in the central nervous system.Neuromolecular Med. 2010 Jun;12(2):133-48. doi: 10.1007/s12017-009-8092-z. Epub 2009 Oct 24.
|
291 |
A novel p.Val244Leu mutation in MFN2 leads to Charcot-Marie-Tooth disease type 2.Ital J Pediatr. 2016 Mar 8;42:28. doi: 10.1186/s13052-016-0237-8.
|
292 |
Characteristics of Seizure and Antiepileptic Drug Utilization in Outpatients With Autoimmune Encephalitis.Front Neurol. 2019 Jan 8;9:1136. doi: 10.3389/fneur.2018.01136. eCollection 2018.
|
293 |
The importance of de novo mutations for pediatric neurological disease--It is not all in utero or birth trauma.Mutat Res Rev Mutat Res. 2016 Jan-Mar;767:42-58. doi: 10.1016/j.mrrev.2015.12.002. Epub 2016 Jan 4.
|
294 |
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD).Hum Mol Genet. 2015 Jun 1;24(11):3143-54. doi: 10.1093/hmg/ddv065. Epub 2015 Feb 20.
|
295 |
Meiotic instability associated with the CAGR1 trinucleotide repeat at 13q13.J Med Genet. 1997 May;34(5):411-3. doi: 10.1136/jmg.34.5.411.
|
296 |
Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities.Eur J Hum Genet. 2017 Sep;25(9):1092-1095. doi: 10.1038/ejhg.2017.96. Epub 2017 Jun 14.
|
297 |
Genome-wide analysis of MEF2 transcriptional program reveals synaptic target genes and neuronal activity-dependent polyadenylation site selection.Neuron. 2008 Dec 26;60(6):1022-38. doi: 10.1016/j.neuron.2008.11.029.
|
298 |
MicroRNA-21 dysregulates the expression of MEF2C in neurons in monkey and human SIV/HIV neurological disease.Cell Death Dis. 2010;1(9):e77. doi: 10.1038/cddis.2010.56.
|
299 |
Lentiviral delivery of meteorin protects striatal neurons against excitotoxicity and reverses motor deficits in the quinolinic acid rat model.Neurobiol Dis. 2011 Jan;41(1):160-8. doi: 10.1016/j.nbd.2010.09.003. Epub 2010 Sep 16.
|
300 |
MICU1 Confers Protection from MCU-Dependent Manganese Toxicity.Cell Rep. 2018 Nov 6;25(6):1425-1435.e7. doi: 10.1016/j.celrep.2018.10.037.
|
301 |
A Redox Modulatory Mn(3) O(4) Nanozyme with Multi-Enzyme Activity Provides Efficient Cytoprotection to Human Cells in a Parkinson's Disease Model.Angew Chem Int Ed Engl. 2017 Nov 6;56(45):14267-14271. doi: 10.1002/anie.201708573. Epub 2017 Oct 4.
|
302 |
Current Understanding of the Role of Neuronal Calcium Sensor 1 in Neurological Disorders.Mol Neurobiol. 2019 Sep;56(9):6080-6094. doi: 10.1007/s12035-019-1497-2. Epub 2019 Feb 4.
|
303 |
Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C.Am J Med Genet A. 2013 Aug;161A(8):2020-3. doi: 10.1002/ajmg.a.36000. Epub 2013 Jun 27.
|
304 |
Leigh Syndrome Mouse Model Can Be Rescued by Interventions that Normalize Brain Hyperoxia, but Not HIF Activation.Cell Metab. 2019 Oct 1;30(4):824-832.e3. doi: 10.1016/j.cmet.2019.07.006. Epub 2019 Aug 8.
|
305 |
Implementationof a genomic medicine multi-disciplinary team approach for rare diseasein the clinical setting: a prospective exome sequencingcase series.Genome Med. 2019 Jul 25;11(1):46. doi: 10.1186/s13073-019-0651-9.
|
306 |
Chromosomal loss of 3q26.3-3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability.Am J Med Genet A. 2012 Jan;158A(1):159-65. doi: 10.1002/ajmg.a.34349. Epub 2011 Nov 21.
|
307 |
Crystal structures of Nova-1 and Nova-2 K-homology RNA-binding domains.Structure. 1999 Feb 15;7(2):191-203. doi: 10.1016/S0969-2126(99)80025-2.
|
308 |
Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.Hum Mol Genet. 2013 Nov 1;22(21):4349-56. doi: 10.1093/hmg/ddt284. Epub 2013 Jun 16.
|
309 |
Cerebrospinal Fluid Concentrations of the Synaptic Marker Neurogranin in Neuro-HIV and Other Neurological Disorders.Curr HIV/AIDS Rep. 2019 Feb;16(1):76-81. doi: 10.1007/s11904-019-00420-1.
|
310 |
Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.Proc Natl Acad Sci U S A. 1989 Apr;86(7):2413-7. doi: 10.1073/pnas.86.7.2413.
|
311 |
A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping.JAMA Neurol. 2013 Jun;70(6):783-7. doi: 10.1001/jamaneurol.2013.1174.
|
312 |
Characterization of 5-HT3 receptor mutations identified in schizophrenic patients.J Mol Neurosci. 2006;30(3):273-81. doi: 10.1385/JMN:30:3:273.
|
313 |
Enhanced expression of Pafah1b1 causes over-migration of cerebral cortical neurons into the marginal zone.Brain Struct Funct. 2017 Dec;222(9):4283-4291. doi: 10.1007/s00429-017-1497-9. Epub 2017 Aug 23.
|
314 |
CCM2-CCM3 interaction stabilizes their protein expression and permits endothelial network formation.J Cell Biol. 2015 Mar 30;208(7):987-1001. doi: 10.1083/jcb.201407129.
|
315 |
Opioid peptides alleviated while naloxone potentiated methamphetamine-induced striatal dopamine depletion in mice.J Neural Transm (Vienna). 2001;108(11):1231-7. doi: 10.1007/s007020100001.
|
316 |
Protein interacting with C kinase and neurological disorders.Synapse. 2013 Aug;67(8):532-40. doi: 10.1002/syn.21657. Epub 2013 Mar 20.
|
317 |
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.Hum Mutat. 2020 Jan;41(1):150-168. doi: 10.1002/humu.23902. Epub 2019 Nov 14.
|
318 |
PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth.Genes Dev. 2013 Mar 15;27(6):615-26. doi: 10.1101/gad.212308.112.
|
319 |
Structure of FBP11 WW1-PL ligand complex reveals the mechanism of proline-rich ligand recognition by group II/III WW domains.J Biol Chem. 2006 Dec 29;281(52):40321-9. doi: 10.1074/jbc.M609321200. Epub 2006 Oct 24.
|
320 |
PRRT2 missense mutations cluster near C-terminus and frequently lead to protein mislocalization.Epilepsia. 2019 May;60(5):807-817. doi: 10.1111/epi.14725. Epub 2019 Apr 13.
|
321 |
Quantitative proteomic analysis of age-related subventricular zone proteins associated with neurodegenerative disease.Sci Rep. 2016 Nov 18;6:37443. doi: 10.1038/srep37443.
|
322 |
The Perineuronal 'Safety' Net? Perineuronal Net Abnormalities in Neurological Disorders.Front Mol Neurosci. 2018 Aug 3;11:270. doi: 10.3389/fnmol.2018.00270. eCollection 2018.
|
323 |
Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients.J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S193-7. doi: 10.1007/s10545-007-0788-3. Epub 2008 Apr 15.
|
324 |
Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene.J Clin Immunol. 2004 Jul;24(4):397-410. doi: 10.1023/B:JOCI.0000029119.83799.cb.
|
325 |
RIT2: responsible and susceptible gene for neurological and psychiatric disorders.Mol Genet Genomics. 2018 Aug;293(4):785-792. doi: 10.1007/s00438-018-1451-4. Epub 2018 Jun 2.
|
326 |
Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders.Parkinsonism Relat Disord. 2018 Jun;51:91-95. doi: 10.1016/j.parkreldis.2018.02.005. Epub 2018 Feb 6.
|
327 |
High-resolution mapping of the sodium channel modifier Scnm1 on mouse chromosome 3 and identification of a 1.3-kb recombination hot spot.Genomics. 2003 Oct;82(4):452-9. doi: 10.1016/s0888-7543(03)00152-6.
|
328 |
Hepatic selenoprotein P (SePP) expression restores selenium transport and prevents infertility and motor-incoordination in Sepp-knockout mice.Biochem J. 2008 Feb 1;409(3):741-9. doi: 10.1042/BJ20071172.
|
329 |
A systems biology approach to predictive developmental neurotoxicity of a larvicide used in the prevention of Zika virus transmission.Toxicol Appl Pharmacol. 2018 Sep 1;354:56-63. doi: 10.1016/j.taap.2018.02.014. Epub 2018 Feb 21.
|
330 |
Selenium homeostasis and antioxidant selenoproteins in brain: implications for disorders in the central nervous system.Arch Biochem Biophys. 2013 Aug 15;536(2):152-7. doi: 10.1016/j.abb.2013.02.021. Epub 2013 Mar 13.
|
331 |
Conquering the complex world of human septins: implications for health and disease.Clin Genet. 2010 Jun;77(6):511-24. doi: 10.1111/j.1399-0004.2010.01392.x. Epub 2010 Feb 11.
|
332 |
ProSAP/Shank proteins - a family of higher order organizing molecules of the postsynaptic density with an emerging role in human neurological disease.J Neurochem. 2002 Jun;81(5):903-10. doi: 10.1046/j.1471-4159.2002.00931.x.
|
333 |
High pathogenicity of wild-type measles virus infection in CD150 (SLAM) transgenic mice.J Virol. 2006 Jul;80(13):6420-9. doi: 10.1128/JVI.00209-06.
|
334 |
Neutral sphingomyelinase 2 inhibitors based on the 4-(1H-imidazol-2-yl)-2,6-dialkoxyphenol scaffold.Eur J Med Chem. 2019 May 15;170:276-289. doi: 10.1016/j.ejmech.2019.03.015. Epub 2019 Mar 9.
|
335 |
Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain.Hum Mol Genet. 2007 Dec 15;16(24):3037-46. doi: 10.1093/hmg/ddm262. Epub 2007 Sep 13.
|
336 |
The hereditary spastic paraplegia gene, spastin, regulates microtubule stability to modulate synaptic structure and function.Curr Biol. 2004 Jul 13;14(13):1135-47. doi: 10.1016/j.cub.2004.06.058.
|
337 |
Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8(+) T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness.Immunity. 2019 May 21;50(5):1218-1231.e5. doi: 10.1016/j.immuni.2019.03.005. Epub 2019 Apr 2.
|
338 |
CYFIP1 coordinates mRNA translation and cytoskeleton remodeling to ensure proper dendritic spine formation.Neuron. 2013 Sep 18;79(6):1169-82. doi: 10.1016/j.neuron.2013.06.039.
|
339 |
The recent updates of therapeutic approaches against a for the treatment of Alzheimer's disease.Anat Rec (Hoboken). 2011 Aug;294(8):1307-18. doi: 10.1002/ar.21425. Epub 2011 Jun 29.
|
340 |
Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations.Am J Physiol Cell Physiol. 2004 Nov;287(5):C1384-8. doi: 10.1152/ajpcell.00286.2004. Epub 2004 Jul 21.
|
341 |
Immunochemical analysis of the expression of SV2C in mouse, macaque and human brain.Brain Res. 2019 Jan 1;1702:85-95. doi: 10.1016/j.brainres.2017.12.029. Epub 2017 Dec 21.
|
342 |
Identification of Synaptotagmin 10 as Effector of NPAS4-Mediated Protection from Excitotoxic Neurodegeneration.J Neurosci. 2016 Mar 2;36(9):2561-70. doi: 10.1523/JNEUROSCI.2027-15.2016.
|
343 |
Role of FET proteins in neurodegenerative disorders.RNA Biol. 2016 Nov;13(11):1089-1102. doi: 10.1080/15476286.2016.1211225. Epub 2016 Jul 14.
|
344 |
A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?.Hum Mol Genet. 1999 Oct;8(11):2047-53. doi: 10.1093/hmg/8.11.2047.
|
345 |
Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
|
346 |
Disease-associated extracellular loop mutations in the adhesion G protein-coupled receptor G1 (ADGRG1; GPR56) differentially regulate downstream signaling.J Biol Chem. 2017 Jun 9;292(23):9711-9720. doi: 10.1074/jbc.M117.780551. Epub 2017 Apr 19.
|
347 |
Aggf1 attenuates neuroinflammation and BBB disruption via PI3K/Akt/NF-B pathway after subarachnoid hemorrhage in rats.J Neuroinflammation. 2018 Jun 9;15(1):178. doi: 10.1186/s12974-018-1211-8.
|
348 |
Dynamic expression analysis of armc10, the homologous gene of human GPRASP2, in zebrafish embryos.Mol Med Rep. 2017 Nov;16(5):5931-5937. doi: 10.3892/mmr.2017.7357. Epub 2017 Aug 24.
|
349 |
Epigenetic suppression of hippocampal calbindin-D28k by FosB drives seizure-related cognitive deficits.Nat Med. 2017 Nov;23(11):1377-1383. doi: 10.1038/nm.4413. Epub 2017 Oct 16.
|
350 |
Atlas of human diseases influenced by genetic variants with extreme allele frequency differences.Hum Genet. 2017 Jan;136(1):39-54. doi: 10.1007/s00439-016-1734-y. Epub 2016 Oct 3.
|
351 |
Expression profiles of ndel1a and ndel1b, two orthologs of the NudE-Like gene, in the zebrafish.Gene Expr Patterns. 2007 Jun;7(6):672-9. doi: 10.1016/j.modgep.2007.03.003. Epub 2007 Mar 30.
|
352 |
Early B-cell Factor gene association with multiple sclerosis in the Spanish population.BMC Neurol. 2005 Oct 28;5:19. doi: 10.1186/1471-2377-5-19.
|
353 |
Spliceosomal protein eftud2 mutation leads to p53-dependent apoptosis in zebrafish neural progenitors.Nucleic Acids Res. 2017 Apr 7;45(6):3422-3436. doi: 10.1093/nar/gkw1043.
|
354 |
Defective Gpsm2/G(i3) signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome.Nat Commun. 2017 Apr 7;8:14907. doi: 10.1038/ncomms14907.
|
355 |
A single Danio rerio hars gene encodes both cytoplasmic and mitochondrial histidyl-tRNA synthetases.PLoS One. 2017 Sep 21;12(9):e0185317. doi: 10.1371/journal.pone.0185317. eCollection 2017.
|
356 |
Detection of autoantibodies to the BTB-kelch protein KLHL7 in cancer sera.Scand J Immunol. 2006 Sep;64(3):325-35. doi: 10.1111/j.1365-3083.2006.01821.x.
|
357 |
Microtubule-associated protein 1B: Novel paraneoplastic biomarker.Ann Neurol. 2017 Feb;81(2):266-277. doi: 10.1002/ana.24872.
|
358 |
MAP7 Regulates Axon Collateral Branch Development in Dorsal Root Ganglion Neurons.J Neurosci. 2017 Feb 8;37(6):1648-1661. doi: 10.1523/JNEUROSCI.3260-16.2017. Epub 2017 Jan 9.
|
359 |
Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy.Invest Ophthalmol Vis Sci. 2017 Jun 1;58(7):2906-2914. doi: 10.1167/iovs.16-20608.
|
360 |
Developing a data sharing community for spinal cord injury research.Exp Neurol. 2017 Sep;295:135-143. doi: 10.1016/j.expneurol.2017.05.012. Epub 2017 May 30.
|
361 |
Neurologic disorders associated with anti-glutamic acid decarboxylase antibodies: A comparison of anti-GAD antibody titers and time-dependent changes between neurologic disease and type I diabetes mellitus.J Neuroimmunol. 2018 Apr 15;317:84-89. doi: 10.1016/j.jneuroim.2018.01.007. Epub 2018 Jan 9.
|
362 |
A novel role of fragile X mental retardation protein in pre-mRNA alternative splicing through RNA-binding protein 14.Neuroscience. 2017 May 4;349:64-75. doi: 10.1016/j.neuroscience.2017.02.044. Epub 2017 Feb 28.
|
363 |
Transcriptional Elongation Regulator 1 Affects Transcription and Splicing of Genes Associated with Cellular Morphology and Cytoskeleton Dynamics and Is Required for Neurite Outgrowth in Neuroblastoma Cells and Primary Neuronal Cultures.Mol Neurobiol. 2017 Dec;54(10):7808-7823. doi: 10.1007/s12035-016-0284-6. Epub 2016 Nov 14.
|
364 |
Carnosinases, their substrates and diseases.Molecules. 2014 Feb 21;19(2):2299-329. doi: 10.3390/molecules19022299.
|
365 |
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.Hum Mol Genet. 2015 Jun 15;24(12):3335-47. doi: 10.1093/hmg/ddv083. Epub 2015 Mar 3.
|
366 |
Structure and Mechanism of the Divalent Anion/Na?Symporter.Int J Mol Sci. 2019 Jan 21;20(2):440. doi: 10.3390/ijms20020440.
|
367 |
Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference.Pediatr Neurol. 2016 Jul;60:1-12. doi: 10.1016/j.pediatrneurol.2016.03.015. Epub 2016 Apr 2.
|
368 |
Selected C8 two-chain linkers enhance the adenosine A 1/A 2A receptor affinity and selectivity of caffeine. Eur J Med Chem. 2017 Jan 5; 125:652-656.
|
369 |
Crystal structure and catalytic activity of the PPM1K N94K mutant.J Neurochem. 2019 Feb;148(4):550-560. doi: 10.1111/jnc.14631. Epub 2019 Jan 3.
|
370 |
REST, a master transcriptional regulator in neurodegenerative disease.Curr Opin Neurobiol. 2018 Feb;48:193-200. doi: 10.1016/j.conb.2017.12.008. Epub 2018 Jan 30.
|
371 |
Enterovirus pathogenesis requires the host methyltransferase SETD3.Nat Microbiol. 2019 Dec;4(12):2523-2537. doi: 10.1038/s41564-019-0551-1. Epub 2019 Sep 16.
|
372 |
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy. Hum Mutat. 2017 Oct;38(10):1348-1354. doi: 10.1002/humu.23250. Epub 2017 Jun 23.
|
373 |
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. Am J Hum Genet. 2017 Sep 7;101(3):428-440. doi: 10.1016/j.ajhg.2017.07.010. Epub 2017 Aug 17.
|
374 |
Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy.Am J Med Genet A. 2003 Mar 1;117A(2):116-21. doi: 10.1002/ajmg.a.10141.
|
375 |
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood. 2016 Feb 25;127(8):997-1006. doi: 10.1182/blood-2015-09-671636. Epub 2016 Jan 7.
|
376 |
Arx polyalanine expansion in mice leads to reduced pancreatic -cell specification and increased -cell death.PLoS One. 2013 Nov 13;8(11):e78741. doi: 10.1371/journal.pone.0078741. eCollection 2013.
|
377 |
Evaluation of T Regulatory Lymphocytes Transcription Factors in HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis (HAM/TSP) Patients.Appl Biochem Biotechnol. 2017 Aug;182(4):1403-1414. doi: 10.1007/s12010-017-2406-7. Epub 2017 Jan 18.
|
378 |
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). Brain. 2017 Feb;140(2):287-305. doi: 10.1093/brain/aww307.
|
379 |
Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia. J Neurol Neurosurg Psychiatry. 2013 Nov;84(11):1255-7. doi: 10.1136/jnnp-2012-304555. Epub 2013 Mar 9.
|
380 |
Loss of Enzyme Activity in Mutated B4GALNT1 Gene Products in Patients with Hereditary Spastic Paraplegia Results in Relatively Mild Neurological Disorders: Similarity with Phenotypes of B4galnt1 Knockout Mice.Neuroscience. 2019 Jan 15;397:94-106. doi: 10.1016/j.neuroscience.2018.11.034. Epub 2018 Dec 4.
|
381 |
Informing the training of health care professionals to implement behavior change strategies for physical activity promotion in neurorehabilitation: a systematic review.Transl Behav Med. 2020 Feb 3;10(1):310-323. doi: 10.1093/tbm/iby118.
|
382 |
7q31.32 partial duplication: First report of a child with dysmorphism, autistic spectrum disorder, moderate intellectual disability and, epilepsy. Literature review.Epilepsy Res. 2019 Dec;158:106223. doi: 10.1016/j.eplepsyres.2019.106223. Epub 2019 Nov 1.
|
383 |
Human cytomegalovirus UL141 protein interacts with CELF5 and affects viral DNA replication.Mol Med Rep. 2018 Mar;17(3):4657-4664. doi: 10.3892/mmr.2018.8419. Epub 2018 Jan 10.
|
384 |
Mitochondrial CHCHD2 and CHCHD10: Roles in Neurological Diseases and Therapeutic Implications.Neuroscientist. 2020 Apr;26(2):170-184. doi: 10.1177/1073858419871214. Epub 2019 Sep 16.
|
385 |
Plasma YKL-40 in the spectrum of neurodegenerative dementia.J Neuroinflammation. 2019 Jul 12;16(1):145. doi: 10.1186/s12974-019-1531-3.
|
386 |
Absent CNKSR2 causes seizures and intellectual, attention, and language deficits. Ann Neurol. 2014 Nov;76(5):758-64. doi: 10.1002/ana.24274. Epub 2014 Oct 4.
|
387 |
Clorgyline-mediated reversal of neurological deficits in a Complexin 2 knockout mouse.Hum Mol Genet. 2010 Sep 1;19(17):3402-12. doi: 10.1093/hmg/ddq252. Epub 2010 Jun 28.
|
388 |
Neuronal function and dysfunction of CYFIP2: from actin dynamics to early infantile epileptic encephalopathy.BMB Rep. 2019 May;52(5):304-311. doi: 10.5483/BMBRep.2019.52.5.097.
|
389 |
DEGS1 variant causes neurological disorder. Eur J Hum Genet. 2019 Nov;27(11):1668-1676. doi: 10.1038/s41431-019-0444-z. Epub 2019 Jun 11.
|
390 |
De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy. Clin Genet. 2015 Apr;87(4):356-61. doi: 10.1111/cge.12394. Epub 2014 Apr 29.
|
391 |
Cerebrospinal fluid levels of alpha-synuclein, amyloid , tau, phosphorylated tau, and neuron-specific enolase in patients with Parkinson's disease, dementia with Lewy bodies or other neurological disorders: Their relationships with cognition and nuclear medicine imaging findings.Neurosci Lett. 2020 Jan 10;715:134564. doi: 10.1016/j.neulet.2019.134564. Epub 2019 Nov 13.
|
392 |
Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement.Eur J Med Genet. 2020 Feb;63(2):103649. doi: 10.1016/j.ejmg.2019.04.006. Epub 2019 Apr 12.
|
393 |
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. Nat Commun. 2014 Jul 3;5:4287. doi: 10.1038/ncomms5287.
|
394 |
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. Am J Hum Genet. 2016 Jun 2;98(6):1249-1255. doi: 10.1016/j.ajhg.2016.04.008. Epub 2016 May 26.
|
395 |
Species-specific differences in nonlysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations.J Biol Chem. 2019 Mar 15;294(11):3853-3871. doi: 10.1074/jbc.RA118.006311. Epub 2019 Jan 20.
|
396 |
Chromosomal mapping of the human M6 genes.Genomics. 1996 May 1;33(3):532-6. doi: 10.1006/geno.1996.0231.
|
397 |
Mutation analysis of patients with neuronal intermediate filament inclusion disease (NIFID).Neurobiol Aging. 2006 May;27(5):778.e1-778.e6. doi: 10.1016/j.neurobiolaging.2005.03.030. Epub 2005 Jul 7.
|
398 |
AS1949490, an inhibitor of 5'-lipid phosphatase SHIP2, promotes protein kinase C-dependent stabilization of brain-derived neurotrophic factor mRNA in cultured cortical neurons.Eur J Pharmacol. 2019 May 15;851:69-79. doi: 10.1016/j.ejphar.2019.02.003. Epub 2019 Feb 10.
|
399 |
Small interstitial 9p24.3 deletions principally involving KANK1 are likely benign copy number variants.Eur J Med Genet. 2020 Jan;63(1):103618. doi: 10.1016/j.ejmg.2019.01.008. Epub 2019 Jan 23.
|
400 |
A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.J Peripher Nerv Syst. 2017 Dec;22(4):460-463. doi: 10.1111/jns.12235. Epub 2017 Sep 11.
|
401 |
Mitotic Motor KIFC1 Is an Organizer of Microtubules in the Axon.J Neurosci. 2019 May 15;39(20):3792-3811. doi: 10.1523/JNEUROSCI.3099-18.2019. Epub 2019 Feb 25.
|
402 |
Tryptophan to Glycine mutation in the position 116 leads to protein aggregation and decreases the stability of the LITAF protein.J Biomol Struct Dyn. 2015;33(8):1695-709. doi: 10.1080/07391102.2014.968211. Epub 2014 Oct 13.
|
403 |
Disease Modeling and Therapeutic Strategies in CMT2A: State of the Art.Mol Neurobiol. 2019 Sep;56(9):6460-6471. doi: 10.1007/s12035-019-1533-2. Epub 2019 Mar 4.
|
404 |
Cancer-Associated MORC2-Mutant M276I Regulates an hnRNPM-Mediated CD44 Splicing Switch to Promote Invasion and Metastasis in Triple-Negative Breast Cancer.Cancer Res. 2018 Oct 15;78(20):5780-5792. doi: 10.1158/0008-5472.CAN-17-1394. Epub 2018 Aug 9.
|
405 |
Mov10 suppresses retroelements and regulates neuronal development and function in the developing brain.BMC Biol. 2017 Jun 29;15(1):54. doi: 10.1186/s12915-017-0387-1.
|
406 |
Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease).J Hum Genet. 2004;49(1):1-8. doi: 10.1007/s10038-003-0098-z. Epub 2003 Dec 19.
|
407 |
Neurocan is a New Substrate for the ADAMTS12 Metalloprotease: Potential Implications in Neuropathies.Cell Physiol Biochem. 2019;52(5):1003-1016. doi: 10.33594/000000069.
|
408 |
Depressive-Like Behaviors Are Regulated by NOX1/NADPH Oxidase by Redox Modification of NMDA Receptor 1.J Neurosci. 2017 Apr 12;37(15):4200-4212. doi: 10.1523/JNEUROSCI.2988-16.2017. Epub 2017 Mar 17.
|
409 |
Individualized management of genetic diversity in Niemann-Pick C1 through modulation of the Hsp70 chaperone system.Hum Mol Genet. 2020 Jan 1;29(1):1-19. doi: 10.1093/hmg/ddz215.
|
410 |
Temporal, Diagnostic, and Tissue-Specific Regulation of NRG3 Isoform Expression in Human Brain Development and Affective Disorders.Am J Psychiatry. 2017 Mar 1;174(3):256-265. doi: 10.1176/appi.ajp.2016.16060721. Epub 2016 Oct 24.
|
411 |
The rat microphthalmia-associated transcription factor gene (Mitf) maps at 4q34-q41 and is mutated in the mib rats.Mamm Genome. 1998 Aug;9(8):617-21. doi: 10.1007/s003359900832.
|
412 |
Nuclear Tau, p53 and Pin1 Regulate PARN-Mediated Deadenylation and Gene Expression.Front Mol Neurosci. 2019 Oct 15;12:242. doi: 10.3389/fnmol.2019.00242. eCollection 2019.
|
413 |
Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.Am J Hum Genet. 1999 Aug;65(2):420-6. doi: 10.1086/302495.
|
414 |
Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease.Proc Natl Acad Sci U S A. 1998 Jul 21;95(15):8630-5. doi: 10.1073/pnas.95.15.8630.
|
415 |
Mutations in the PIGW gene associated with hyperphosphatasia and mental retardation syndrome: a case report.BMC Pediatr. 2019 Feb 27;19(1):68. doi: 10.1186/s12887-019-1440-8.
|
416 |
Involvement and interplay of Parkin, PINK1, and DJ1 in neurodegenerative and neuroinflammatory disorders.Free Radic Biol Med. 2012 Aug 15;53(4):983-92. doi: 10.1016/j.freeradbiomed.2012.05.040. Epub 2012 Jun 9.
|
417 |
Regulator of G-protein signaling (RGS) proteins as drug targets: Progress and future potentials.J Biol Chem. 2019 Dec 6;294(49):18571-18585. doi: 10.1074/jbc.REV119.007060. Epub 2019 Oct 21.
|
418 |
Mitochondria from a mouse model of the human infantile neuroaxonal dystrophy (INAD) with genetic defects in VIA iPLA2 have disturbed Ca(2+) regulation with reduction in Ca(2+) capacity.Neurochem Int. 2016 Oct;99:187-193. doi: 10.1016/j.neuint.2016.07.002. Epub 2016 Jul 7.
|
419 |
Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations.Pediatr Blood Cancer. 2015 Dec;62(12):2094-100. doi: 10.1002/pbc.25646. Epub 2015 Jul 16.
|
420 |
PURA, the gene encoding Pur-alpha, member of an ancient nucleic acid-binding protein family with mammalian neurological functions.Gene. 2018 Feb 15;643:133-143. doi: 10.1016/j.gene.2017.12.004. Epub 2017 Dec 6.
|
421 |
Hypervulnerability of the adolescent prefrontal cortex to nutritional stress via reelin deficiency.Mol Psychiatry. 2017 Jul;22(7):961-971. doi: 10.1038/mp.2016.193. Epub 2016 Nov 15.
|
422 |
The application of strand invasion phenomenon, directed by peptide nucleic acid (PNA) and single-stranded DNA binding protein (SSB) for the recognition of specific sequences of human endogenous retroviral HERV-W family.J Mol Recognit. 2017 May;30(5). doi: 10.1002/jmr.2600. Epub 2016 Dec 6.
|
423 |
Sema7A, a brain immune regulator, regulates seizure activity in PTZ-kindled epileptic rats.CNS Neurosci Ther. 2020 Jan;26(1):101-116. doi: 10.1111/cns.13181. Epub 2019 Jun 9.
|
424 |
Senataxin resolves RNA:DNA hybrids forming at DNA double-strand breaks to prevent translocations.Nat Commun. 2018 Feb 7;9(1):533. doi: 10.1038/s41467-018-02894-w.
|
425 |
Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita. Mol Genet Genomic Med. 2017 Nov;5(6):805-808. doi: 10.1002/mgg3.314. Epub 2017 Aug 15.
|
426 |
Defining new mechanistic roles for II spectrin in cardiac function.J Biol Chem. 2019 Jun 14;294(24):9576-9591. doi: 10.1074/jbc.RA119.007714. Epub 2019 May 7.
|
427 |
Synaptic Interactome Mining Reveals p140Cap as a New Hub for PSD Proteins Involved in Psychiatric and Neurological Disorders.Front Mol Neurosci. 2017 Jun 30;10:212. doi: 10.3389/fnmol.2017.00212. eCollection 2017.
|
428 |
Knockdown of TNFAIP1 prevents di-(2-ethylhexyl) phthalate-induced neurotoxicity by activating CREB pathway.Chemosphere. 2020 Feb;241:125114. doi: 10.1016/j.chemosphere.2019.125114. Epub 2019 Oct 14.
|
429 |
Toll-interacting protein deficiency promotes neurodegeneration via impeding autophagy completion in high-fat diet-fed ApoE(-/-) mouse model.Brain Behav Immun. 2017 Jan;59:200-210. doi: 10.1016/j.bbi.2016.10.002. Epub 2016 Oct 5.
|
430 |
Genome-Wide Scan Informed by Age-Related Disease Identifies Loci for Exceptional Human Longevity.PLoS Genet. 2015 Dec 17;11(12):e1005728. doi: 10.1371/journal.pgen.1005728. eCollection 2015 Dec.
|
431 |
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. Brain. 2020 Jan 1;143(1):112-130. doi: 10.1093/brain/awz374.
|
432 |
A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.J Hum Genet. 2015 Apr;60(4):187-91. doi: 10.1038/jhg.2015.7. Epub 2015 Feb 5.
|
433 |
Selective blockade of the lyso-PS lipase ABHD12 stimulates immune responses in vivo.Nat Chem Biol. 2018 Dec;14(12):1099-1108. doi: 10.1038/s41589-018-0155-8. Epub 2018 Nov 12.
|
434 |
Potential for therapeutic targeting of AKAP signaling complexes in nervous system disorders.Pharmacol Ther. 2018 May;185:99-121. doi: 10.1016/j.pharmthera.2017.12.004. Epub 2017 Dec 17.
|
435 |
The structural basis of lipid scrambling and inactivation in the endoplasmic reticulum scramblase TMEM16K.Nat Commun. 2019 Sep 2;10(1):3956. doi: 10.1038/s41467-019-11753-1.
|
436 |
A case of early onset life-threatening epilepsy associated with a novel ATP1A3 gene variant.Brain Dev. 2019 Mar;41(3):285-291. doi: 10.1016/j.braindev.2018.10.008. Epub 2018 Nov 2.
|
437 |
Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disorders.Hum Mutat. 2019 Dec;40(12):2353-2364. doi: 10.1002/humu.23889. Epub 2019 Aug 23.
|
438 |
Moving Towards Therapy in SCA1: Insights from Molecular Mechanisms, Identification of Novel Targets, and Planning for Human Trials.Neurotherapeutics. 2019 Oct;16(4):999-1008. doi: 10.1007/s13311-019-00763-y.
|
439 |
Young Adults Among Patients Admitted to Polish Intensive Care Units in the Silesian ICU Registry.Med Sci Monit. 2019 Aug 2;25:5727-5737. doi: 10.12659/MSM.913852.
|
440 |
A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability.Elife. 2018 May 22;7:e32451. doi: 10.7554/eLife.32451.
|
441 |
Defective DNA repair and neurodegenerative disease.Cell. 2007 Sep 21;130(6):991-1004. doi: 10.1016/j.cell.2007.08.043.
|
442 |
Host CARD11 Inhibits Newcastle Disease Virus Replication by Suppressing Viral Polymerase Activity in Neurons.J Virol. 2019 Nov 26;93(24):e01499-19. doi: 10.1128/JVI.01499-19. Print 2019 Dec 15.
|
443 |
The antidepressant tianeptine reverts synaptic AMPA receptor defects caused by deficiency of CDKL5.Hum Mol Genet. 2018 Jun 15;27(12):2052-2063. doi: 10.1093/hmg/ddy108.
|
444 |
Neuroprotective and reparative effects of endoplasmic reticulum luminal proteins - mesencephalic astrocyte-derived neurotrophic factor and cerebral dopamine neurotrophic factor.Croat Med J. 2019 Apr 30;60(2):99-108. doi: 10.3325/cmj.2019.60.99.
|
445 |
Regulation of CHD2 expression by the Chaserr long noncoding RNA gene is essential for viability.Nat Commun. 2019 Nov 8;10(1):5092. doi: 10.1038/s41467-019-13075-8.
|
446 |
Disrupted AMPA Receptor Function upon Genetic- or Antibody-Mediated Loss of Autism-Associated CASPR2.Cereb Cortex. 2019 Dec 17;29(12):4919-4931. doi: 10.1093/cercor/bhz032.
|
447 |
MED23 mutation links intellectual disability to dysregulation of immediate early gene expression. Science. 2011 Aug 26;333(6046):1161-3. doi: 10.1126/science.1206638.
|
448 |
A cullin-RING ubiquitin ligase targets exogenous -synuclein and inhibits Lewy body-like pathology.Sci Transl Med. 2019 Jun 5;11(495):eaau6722. doi: 10.1126/scitranslmed.aau6722.
|
449 |
miR-124 promotes proliferation and neural differentiation of neural stem cells through targeting DACT1 and activating Wnt/-catenin pathways.Mol Cell Biochem. 2018 Dec;449(1-2):305-314. doi: 10.1007/s11010-018-3367-z. Epub 2018 May 21.
|
450 |
Derivation of primitive neural stem cells from human-induced pluripotent stem cells.J Comp Neurol. 2019 Dec 15;527(18):3023-3033. doi: 10.1002/cne.24727. Epub 2019 Jun 20.
|
451 |
Loss of DDHD2, whose mutation causes spastic paraplegia, promotes reactive oxygen species generation and apoptosis.Cell Death Dis. 2018 Jul 23;9(8):797. doi: 10.1038/s41419-018-0815-3.
|
452 |
Peptide Sharing Between Viruses and DLX Proteins: A Potential Cross-Reactivity Pathway to Neuropsychiatric Disorders.Front Neurosci. 2018 Mar 21;12:150. doi: 10.3389/fnins.2018.00150. eCollection 2018.
|
453 |
Transcriptome profiling in Eid1-KO mice brain shows that Eid1 links cell proliferation in the brain.Gene. 2019 Oct 30;717:143998. doi: 10.1016/j.gene.2019.143998. Epub 2019 Aug 2.
|
454 |
Enhancing Neuronogenesis and Counteracting Neuropathogenic Gene Haploinsufficiencies by RNA Gene Activation.Adv Exp Med Biol. 2017;983:23-39. doi: 10.1007/978-981-10-4310-9_2.
|
455 |
GLIS1-3 transcription factors: critical roles in the regulation of multiple physiological processes and diseases.Cell Mol Life Sci. 2018 Oct;75(19):3473-3494. doi: 10.1007/s00018-018-2841-9. Epub 2018 May 19.
|
456 |
Potential Role of Mic60/Mitofilin in Parkinson's Disease.Front Neurosci. 2019 Jan 25;12:898. doi: 10.3389/fnins.2018.00898. eCollection 2018.
|
457 |
Type I interferon-regulated gene expression and signaling in murine mixed glial cells lacking signal transducers and activators of transcription 1 or 2 or interferon regulatory factor 9.J Biol Chem. 2017 Apr 7;292(14):5845-5859. doi: 10.1074/jbc.M116.756510. Epub 2017 Feb 17.
|
458 |
Expression of the guanine nucleotide exchange factor, RAPGEF5, during mouse and human embryogenesis.Gene Expr Patterns. 2019 Dec;34:119057. doi: 10.1016/j.gep.2019.119057. Epub 2019 Jun 1.
|
459 |
Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome.Clin Genet. 2018 Jun;93(6):1245-1247. doi: 10.1111/cge.13162. Epub 2018 Feb 5.
|
460 |
Presence of aberrant epididymal tubules revealing undifferentiated epithelial cells and absence of spermatozoa in a combined neuraminidase-3 and -4 deficient adult mouse model.PLoS One. 2018 Oct 25;13(10):e0206173. doi: 10.1371/journal.pone.0206173. eCollection 2018.
|
461 |
Neuroglobin promotes neurogenesis through Wnt signaling pathway.Cell Death Dis. 2018 Sep 20;9(10):945. doi: 10.1038/s41419-018-1007-x.
|
462 |
"Crimes against the Nervous System": Neurological References During the Nuremberg Doctors' Trials.World Neurosurg. 2019 Feb;122:63-70. doi: 10.1016/j.wneu.2018.10.092. Epub 2018 Oct 25.
|
463 |
tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy. Eur J Hum Genet. 2017 May;25(5):545-551. doi: 10.1038/ejhg.2017.30. Epub 2017 Mar 8.
|
464 |
The Many Roles of Type II Phosphatidylinositol 4-Kinases in Membrane Trafficking: New Tricks for Old Dogs.Bioessays. 2018 Feb;40(2). doi: 10.1002/bies.201700145. Epub 2017 Dec 27.
|
465 |
PIWI Proteins and piRNAs in the Nervous System.Mol Cells. 2019 Dec 31;42(12):828-835. doi: 10.14348/molcells.2019.0241.
|
466 |
Generation of three spinocerebellar ataxia type-12 patients derived induced pluripotent stem cell lines (IGIBi002-A, IGIBi003-A and IGIBi004-A).Stem Cell Res. 2018 Aug;31:216-221. doi: 10.1016/j.scr.2018.08.008. Epub 2018 Aug 14.
|
467 |
The neuronal and endocrine roles of RCAN1 in health and disease.Clin Exp Pharmacol Physiol. 2018 Apr;45(4):377-383. doi: 10.1111/1440-1681.12884. Epub 2017 Nov 29.
|
468 |
Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability.Parkinsonism Relat Disord. 2018 Jan;46:79-83. doi: 10.1016/j.parkreldis.2017.10.012. Epub 2017 Oct 21.
|
469 |
RNF20 controls astrocytic differentiation through epigenetic regulation of STAT3 in the developing brain.Cell Death Differ. 2018 Feb;25(2):294-306. doi: 10.1038/cdd.2017.157. Epub 2017 Oct 6.
|
470 |
Gene therapy targeting SARM1 blocks pathological axon degeneration in mice.J Exp Med. 2019 Feb 4;216(2):294-303. doi: 10.1084/jem.20181040. Epub 2019 Jan 14.
|
471 |
Neocortical SHANK1 regulation of forebrain dependent associative learning.Neurobiol Learn Mem. 2018 Nov;155:173-179. doi: 10.1016/j.nlm.2018.07.009. Epub 2018 Jul 24.
|
472 |
Chronic treatment with a MEK inhibitor reverses enhanced excitatory field potentials in Syngap1(+/-) mice.Pharmacol Rep. 2018 Aug;70(4):777-783. doi: 10.1016/j.pharep.2018.02.021. Epub 2018 Jun 23.
|
473 |
The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons.Hum Mol Genet. 2019 Feb 15;28(4):584-597. doi: 10.1093/hmg/ddy370.
|
|
|
|
|
|
|