1 |
URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 8694).
|
2 |
Positive results of the phase I study for treatment of late complications in Parkinson's Disease. Merz Pharmaceuticals GmbH und Co. KGaA. 2011-04-01.
|
3 |
Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800025437)
|
4 |
URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Target id: 319).
|
5 |
A common variant in DRD3 receptor is associated with autism spectrum disorder.Biol Psychiatry. 2009 Apr 1;65(7):625-30. doi: 10.1016/j.biopsych.2008.09.035. Epub 2008 Dec 5.
|
6 |
Cerebral folate deficiency: Analytical tests and differential diagnosis.J Inherit Metab Dis. 2019 Jul;42(4):655-672. doi: 10.1002/jimd.12092. Epub 2019 May 2.
|
7 |
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.
|
8 |
Association of GBA Mutations and the E326K Polymorphism With Motor and Cognitive Progression in Parkinson Disease.JAMA Neurol. 2016 Oct 1;73(10):1217-1224. doi: 10.1001/jamaneurol.2016.2245.
|
9 |
Antipsychotic-induced movement disorders in long-stay psychiatric patients and 45 tag SNPs in 7 candidate genes: a prospective study.PLoS One. 2012;7(12):e50970. doi: 10.1371/journal.pone.0050970. Epub 2012 Dec 4.
|
10 |
The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease.Am J Hum Genet. 2016 Feb 4;98(2):287-98. doi: 10.1016/j.ajhg.2015.12.018.
|
11 |
Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.Epilepsia. 2017 Jan;58(1):e10-e15. doi: 10.1111/epi.13601. Epub 2016 Nov 9.
|
12 |
Crystal structure of the WD40 domain dimer of LRRK2.Proc Natl Acad Sci U S A. 2019 Jan 29;116(5):1579-1584. doi: 10.1073/pnas.1817889116. Epub 2019 Jan 11.
|
13 |
Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.Am J Med Genet A. 2016 Sep;170(9):2301-9. doi: 10.1002/ajmg.a.37812. Epub 2016 Jun 29.
|
14 |
Enhanced mu opioid receptor-dependent opioidergic modulation of striatal cholinergic transmission in DYT1 dystonia.Mov Disord. 2018 Feb;33(2):310-320. doi: 10.1002/mds.27212. Epub 2017 Nov 18.
|
15 |
SLC2A1 mutations are a rare cause of pediatric-onset hereditary spastic paraplegia.Eur J Paediatr Neurol. 2019 Mar;23(2):329-332. doi: 10.1016/j.ejpn.2018.12.004. Epub 2018 Dec 18.
|
16 |
What is new for monoamine neurotransmitter disorders?.J Inherit Metab Dis. 2014 Jul;37(4):619-26. doi: 10.1007/s10545-014-9697-4. Epub 2014 Apr 3.
|
17 |
Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders.Parkinsonism Relat Disord. 2019 Jul;64:145-149. doi: 10.1016/j.parkreldis.2019.02.039. Epub 2019 Feb 28.
|
18 |
Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.Pediatr Neurol. 2016 May;58:113-5. doi: 10.1016/j.pediatrneurol.2015.10.009. Epub 2015 Nov 14.
|
19 |
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.PLoS Genet. 2017 Jul 24;13(7):e1006905. doi: 10.1371/journal.pgen.1006905. eCollection 2017 Jul.
|
20 |
Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm.Front Pediatr. 2017 May 22;5:113. doi: 10.3389/fped.2017.00113. eCollection 2017.
|
21 |
Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.Neurology. 2014 Jan 14;82(2):139-48. doi: 10.1212/WNL.0000000000000046. Epub 2013 Dec 13.
|
22 |
The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene.Clin Endocrinol (Oxf). 2015 Apr;82(4):543-9. doi: 10.1111/cen.12543. Epub 2014 Aug 3.
|
23 |
De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients.Neurobiol Aging. 2015 Nov;36(11):3117.e1-3117.e6. doi: 10.1016/j.neurobiolaging.2015.08.005. Epub 2015 Aug 15.
|
24 |
A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder.Eur J Paediatr Neurol. 2018 May;22(3):516-524. doi: 10.1016/j.ejpn.2017.12.017. Epub 2017 Dec 30.
|
25 |
Phenotypic variability in giant axonal neuropathy.Neuromuscul Disord. 2009 Apr;19(4):270-4. doi: 10.1016/j.nmd.2009.01.011. Epub 2009 Feb 23.
|
26 |
A Compound Heterozygote for GCH1 Mutation Represents a Case of Atypical Dopa-Responsive Dystonia.J Mol Neurosci. 2019 Jun;68(2):214-220. doi: 10.1007/s12031-019-01301-3. Epub 2019 Mar 25.
|
27 |
Centrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic.Neurol Genet. 2017 Jan 5;3(1):e128. doi: 10.1212/NXG.0000000000000128. eCollection 2017 Feb.
|
28 |
GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.Mol Genet Metab. 2014 Mar;111(3):393-398. doi: 10.1016/j.ymgme.2013.12.001. Epub 2013 Dec 16.
|
29 |
High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.Brain Dev. 2016 Mar;38(3):285-92. doi: 10.1016/j.braindev.2015.09.011. Epub 2015 Oct 23.
|
30 |
Natural history of infantile G(M2) gangliosidosis.Pediatrics. 2011 Nov;128(5):e1233-41. doi: 10.1542/peds.2011-0078. Epub 2011 Oct 24.
|
31 |
A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.Eur J Hum Genet. 2017 Jun;25(7):848-853. doi: 10.1038/ejhg.2017.54. Epub 2017 May 10.
|
32 |
Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.Eur J Med Genet. 2017 Jun;60(6):285-288. doi: 10.1016/j.ejmg.2017.03.006. Epub 2017 Mar 27.
|
33 |
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.Orphanet J Rare Dis. 2015 Jun 6;10:70. doi: 10.1186/s13023-015-0286-x.
|
34 |
Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay.PLoS One. 2017 Aug 25;12(8):e0183866. doi: 10.1371/journal.pone.0183866. eCollection 2017.
|
35 |
PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema.Cerebellum. 2017 Feb;16(1):272-275. doi: 10.1007/s12311-016-0784-y.
|
36 |
Genetic PrP Prion Diseases.Cold Spring Harb Perspect Biol. 2018 May 1;10(5):a033134. doi: 10.1101/cshperspect.a033134.
|
37 |
UniProt: a hub for protein information.Nucleic Acids Res. 2015 Jan;43(Database issue):D204-12. doi: 10.1093/nar/gku989. Epub 2014 Oct 27.
|
38 |
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.Neuromuscul Disord. 2013 Mar;23(3):195-205. doi: 10.1016/j.nmd.2013.01.004. Epub 2013 Feb 8.
|
39 |
Status dystonicus due to missense variant in ARX: Diagnosis and management.Eur J Paediatr Neurol. 2018 Sep;22(5):862-865. doi: 10.1016/j.ejpn.2018.04.015. Epub 2018 May 3.
|
40 |
Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease.Hum Mol Genet. 2015 Nov 1;24(21):6254-63. doi: 10.1093/hmg/ddv348. Epub 2015 Aug 26.
|
41 |
Decreased number of striatal cholinergic interneurons and motor deficits in dopamine receptor 2-expressing-cell-specific Dyt1 conditional knockout mice.Neurobiol Dis. 2020 Feb;134:104638. doi: 10.1016/j.nbd.2019.104638. Epub 2019 Oct 13.
|
42 |
15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes.Hum Mutat. 2015 Jul;36(7):689-93. doi: 10.1002/humu.22800.
|
43 |
Acute effects of copper and mercury on the estuarine fish Pomatoschistus microps: linking biomarkers to behaviour.Chemosphere. 2009 Sep;76(10):1416-27. doi: 10.1016/j.chemosphere.2009.06.005. Epub 2009 Jul 22.
|
44 |
Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant. J Child Neurol. 2017 Aug;32(9):840-845. doi: 10.1177/0883073817711527. Epub 2017 May 25.
|
45 |
Striatal adenosine-cannabinoid receptor interactions in rats over-expressing adenosine A2A receptors.J Neurochem. 2016 Mar;136(5):907-17. doi: 10.1111/jnc.13421. Epub 2015 Nov 24.
|
46 |
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. Hum Mutat. 2017 Feb;38(2):216-225. doi: 10.1002/humu.23149. Epub 2016 Dec 9.
|
47 |
Mouse models of spinocerebellar ataxia type 3 (Machado-Joseph disease).Neurotherapeutics. 2012 Apr;9(2):285-96. doi: 10.1007/s13311-012-0117-x.
|
48 |
Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature.J Neurol. 2016 Mar;263(3):558-74. doi: 10.1007/s00415-016-8021-7. Epub 2016 Jan 25.
|
49 |
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11.
|
50 |
A Case Report of Hypoglycemia and Hypogammaglobulinemia: DAVID Syndrome in a Patient With a Novel NFKB2 Mutation.J Clin Endocrinol Metab. 2017 Jul 1;102(7):2127-2130. doi: 10.1210/jc.2017-00341.
|
51 |
Cerebellar CB(1) receptor mediation of Delta(9)-THC-induced motor incoordination and its potentiation by ethanol and modulation by the cerebellar adenosinergic A(1) receptor in the mouse.Brain Res. 2000 May 12;864(2):186-94. doi: 10.1016/s0006-8993(00)02103-x.
|
52 |
The role of mutations in COL6A3 in isolated dystonia.J Neurol. 2016 Apr;263(4):730-4. doi: 10.1007/s00415-016-8046-y. Epub 2016 Feb 12.
|
53 |
Discovery of N-(1-ethylpropyl)-[3-methoxy-5-(2-methoxy-4-trifluoromethoxyphenyl)-6-methyl-pyrazin-2-yl]amine 59 (NGD 98-2): an orally active corticotropin releasing factor-1 (CRF-1) receptor antagonist.J Med Chem. 2011 Jun 23;54(12):4187-206. doi: 10.1021/jm200365y. Epub 2011 May 27.
|
54 |
Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.Mol Neurobiol. 2018 Mar;55(3):2483-2493. doi: 10.1007/s12035-017-0483-9. Epub 2017 Apr 6.
|
55 |
Abnormal involuntary movements: a study of dopaminergic receptor interaction.Adv Neurol. 1983;37:305-12.
|
56 |
Association of two DRD2 gene polymorphisms with acute and tardive antipsychotic-induced movement disorders in young Caucasian patients.Psychopharmacology (Berl). 2012 Feb;219(3):727-36. doi: 10.1007/s00213-011-2394-1. Epub 2011 Jul 13.
|
57 |
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.Hum Mutat. 2016 Feb;37(2):175-83. doi: 10.1002/humu.22922. Epub 2015 Nov 4.
|
58 |
Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype.Mov Disord. 2006 Mar;21(3):396-401. doi: 10.1002/mds.20708.
|
59 |
Glucose-6-phosphate dehydrogenase deficiency. Lancet. 2008 Jan 5;371(9606):64-74. doi: 10.1016/S0140-6736(08)60073-2.
|
60 |
AMPA-induced extracellular Zn(2+) influx into nigral dopaminergic neurons causes movement disorder in rats.Neurotoxicology. 2018 Dec;69:23-28. doi: 10.1016/j.neuro.2018.08.008. Epub 2018 Aug 31.
|
61 |
De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.Eur J Med Genet. 2017 Jun;60(6):317-320. doi: 10.1016/j.ejmg.2017.04.001. Epub 2017 Apr 5.
|
62 |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. Genet Med. 2016 Sep;18(9):898-905. doi: 10.1038/gim.2015.186. Epub 2016 Jan 21.
|
63 |
The nonsynonymous Thr105Ile polymorphism of the histamine N-methyltransferase is associated to the risk of developing essential tremor.Neuromolecular Med. 2008;10(4):356-61. doi: 10.1007/s12017-008-8040-3. Epub 2008 Jun 10.
|
64 |
Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype.Neuroscience. 2018 Aug 1;384:152-164. doi: 10.1016/j.neuroscience.2018.05.031. Epub 2018 May 29.
|
65 |
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. Hum Genet. 2016 Jul;135(7):699-705. doi: 10.1007/s00439-016-1661-y. Epub 2016 Apr 5.
|
66 |
Functional consequences of a KCNT1 variant associated with status dystonicus and early-onset infantile encephalopathy.Ann Clin Transl Neurol. 2019 Sep;6(9):1606-1615. doi: 10.1002/acn3.50847. Epub 2019 Jul 15.
|
67 |
Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?.Clin Genet. 2016 Sep;90(3):276-81. doi: 10.1111/cge.12767. Epub 2016 Mar 23.
|
68 |
LINGO1 variants in essential tremor and Parkinson's disease.Acta Neurol Scand. 2012 Jan;125(1):1-7. doi: 10.1111/j.1600-0404.2011.01516.x. Epub 2011 Apr 7.
|
69 |
Paediatric MOG antibody-associated ADEM with complex movement disorder: A case report.Mult Scler. 2019 Jan;25(1):125-128. doi: 10.1177/1352458518786074. Epub 2018 Oct 31.
|
70 |
Transmembrane domain Nrg1 mutant mice show altered susceptibility to the neurobehavioural actions of repeated THC exposure in adolescence.Int J Neuropsychopharmacol. 2013 Feb;16(1):163-75. doi: 10.1017/S1461145711001854. Epub 2012 Jan 9.
|
71 |
Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy. Am J Hum Genet. 2016 Apr 7;98(4):735-43. doi: 10.1016/j.ajhg.2016.03.015.
|
72 |
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment. Hum Mutat. 2016 Aug;37(8):786-93. doi: 10.1002/humu.23004. Epub 2016 May 9.
|
73 |
Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation.Epileptic Disord. 2014 Jun;16(2):208-12. doi: 10.1684/epd.2014.0649.
|
74 |
Evaluation of a German version of the Bain and Findley Tremor ADL scale.Parkinsonism Relat Disord. 2019 Nov;68:46-48. doi: 10.1016/j.parkreldis.2019.09.024. Epub 2019 Sep 25.
|
75 |
How close are we to therapies for Sanfilippo disease?.Metab Brain Dis. 2018 Feb;33(1):1-10. doi: 10.1007/s11011-017-0111-4. Epub 2017 Sep 18.
|
76 |
Valbenazine as the first and only approved treatment for adults with tardive dyskinesia.Expert Rev Clin Pharmacol. 2018 Mar;11(3):209-217. doi: 10.1080/17512433.2018.1429264. Epub 2018 Jan 23.
|
77 |
SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters.Clin Chim Acta. 2016 Nov 1;462:210-214. doi: 10.1016/j.cca.2016.09.022. Epub 2016 Oct 1.
|
78 |
Nuclear Imaging in the Diagnosis of Clinically Uncertain Parkinsonian Syndromes.Dtsch Arztebl Int. 2019 Nov 1;116(44):747-754. doi: 10.3238/arztebl.2019.0747.
|
79 |
Stiff person syndrome and other immune-mediated movement disorders - new insights.Curr Opin Neurol. 2016 Aug;29(4):496-506. doi: 10.1097/WCO.0000000000000351.
|
80 |
Behavioral effects of urotensin-II centrally administered in mice.Psychopharmacology (Berl). 2005 Nov;183(1):103-17. doi: 10.1007/s00213-005-0140-2. Epub 2005 Oct 22.
|
81 |
Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review.Parkinsonism Relat Disord. 2019 Apr;61:19-25. doi: 10.1016/j.parkreldis.2018.11.019. Epub 2018 Nov 16.
|
82 |
Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.Clin Genet. 2017 Mar;91(3):431-440. doi: 10.1111/cge.12784. Epub 2016 May 11.
|
83 |
Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies.Mol Genet Metab. 2018 Jun;124(2):161-167. doi: 10.1016/j.ymgme.2018.04.002. Epub 2018 Apr 6.
|
84 |
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.Am J Med Genet A. 2010 Dec;152A(12):3043-50. doi: 10.1002/ajmg.a.33736.
|
85 |
Presynaptic inhibition and spinal pain processing in mice: a possible role of the NKCC1 cation-chloride co-transporter in hyperalgesia.Neurosci Lett. 2004 May 6;361(1-3):200-3. doi: 10.1016/j.neulet.2003.12.015.
|
86 |
New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.Orphanet J Rare Dis. 2015 Jan 23;10:7. doi: 10.1186/s13023-014-0219-0.
|
87 |
Cellular and Molecular Mechanisms of Recessive Hereditary Methaemoglobinaemia Type II.J Clin Med. 2018 Oct 10;7(10):341. doi: 10.3390/jcm7100341.
|
88 |
Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome.Am J Med Genet A. 2013 Oct;161A(10):2407-19. doi: 10.1002/ajmg.a.36096. Epub 2013 Aug 5.
|
89 |
Three families with mild PMM2-CDG and normal cognitive development.Am J Med Genet A. 2017 Jun;173(6):1620-1624. doi: 10.1002/ajmg.a.38235. Epub 2017 Apr 19.
|
90 |
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.
|
91 |
Increased EMG intermuscular coherence and reduced signal complexity in Parkinson's disease.Clin Neurophysiol. 2019 Feb;130(2):259-269. doi: 10.1016/j.clinph.2018.10.023. Epub 2018 Dec 8.
|
92 |
Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.Hum Mutat. 2013 Jun;34(6):860-3. doi: 10.1002/humu.22309. Epub 2013 Apr 5.
|
93 |
A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.Am J Med Genet A. 2017 Oct;173(10):2803-2807. doi: 10.1002/ajmg.a.38390. Epub 2017 Aug 17.
|
94 |
DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.Am J Med Genet A. 2018 Jan;176(1):241-245. doi: 10.1002/ajmg.a.38517. Epub 2017 Nov 12.
|
95 |
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.Am J Hum Genet. 2017 Jan 5;100(1):117-127. doi: 10.1016/j.ajhg.2016.11.012. Epub 2016 Dec 22.
|
96 |
Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.Am J Med Genet A. 2018 Feb;176(2):421-425. doi: 10.1002/ajmg.a.38558. Epub 2017 Dec 11.
|
97 |
Pleiotropic neuropathological and biochemical alterations associated with Myo5a mutation in a rat Model.Brain Res. 2018 Jan 15;1679:155-170. doi: 10.1016/j.brainres.2017.11.029. Epub 2017 Dec 5.
|
98 |
Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment.J Neurol. 2020 Mar;267(3):770-782. doi: 10.1007/s00415-019-09640-2. Epub 2019 Nov 20.
|
99 |
Inactivating mutations and hypermethylation of the NKX2-1/TTF-1 gene in non-terminal respiratory unit-type lung adenocarcinomas.Cancer Sci. 2017 Sep;108(9):1888-1896. doi: 10.1111/cas.13313. Epub 2017 Jul 29.
|
100 |
Behr syndrome with homozygous C19ORF12 mutation.J Neurol Sci. 2015 Oct 15;357(1-2):115-8. doi: 10.1016/j.jns.2015.07.009. Epub 2015 Jul 9.
|
101 |
Candidate gene-based association study of antipsychotic-induced movement disorders in long-stay psychiatric patients: a prospective study.PLoS One. 2012;7(5):e36561. doi: 10.1371/journal.pone.0036561. Epub 2012 May 15.
|
102 |
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.
|
103 |
Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.J Neurol Sci. 2016 Dec 15;371:105-111. doi: 10.1016/j.jns.2016.10.032. Epub 2016 Oct 21.
|
104 |
Alternative Splicing of Alpha- and Beta-Synuclein Genes Plays Differential Roles in Synucleinopathies.Genes (Basel). 2018 Jan 25;9(2):63. doi: 10.3390/genes9020063.
|
105 |
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.J Pathol. 2017 Sep;243(1):9-15. doi: 10.1002/path.4926. Epub 2017 Jul 25.
|
106 |
Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutires Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations.J Invest Dermatol. 2016 Apr;136(4):875-878. doi: 10.1016/j.jid.2015.12.034. Epub 2016 Jan 21.
|
107 |
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations.Brain Dev. 2018 Oct;40(9):768-774. doi: 10.1016/j.braindev.2018.05.008. Epub 2018 May 31.
|
108 |
A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma.Pediatr Blood Cancer. 2017 Oct;64(10). doi: 10.1002/pbc.26522. Epub 2017 Mar 30.
|
109 |
Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report.Int J Clin Exp Med. 2014 Dec 15;7(12):5896-903. eCollection 2014.
|
110 |
BCAP31-associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy.Am J Med Genet A. 2017 Jun;173(6):1640-1643. doi: 10.1002/ajmg.a.38127. Epub 2017 Mar 23.
|
111 |
Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene.Clin Genet. 2009 Jun;75(6):585-7. doi: 10.1111/j.1399-0004.2009.01160.x.
|
112 |
Phenotypic and molecular insights into CASK-related disorders in males.Orphanet J Rare Dis. 2015 Apr 12;10:44. doi: 10.1186/s13023-015-0256-3.
|
113 |
WISP3 mutation associated with pseudorheumatoid dysplasia.Cold Spring Harb Mol Case Stud. 2018 Feb 1;4(1):a001990. doi: 10.1101/mcs.a001990. Print 2018 Feb.
|
114 |
Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.Clin Genet. 2018 Mar;93(3):687-692. doi: 10.1111/cge.13145. Epub 2018 Feb 5.
|
115 |
Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.Am J Med Genet A. 2016 Feb;170A(2):344-354. doi: 10.1002/ajmg.a.37435. Epub 2015 Nov 21.
|
116 |
Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.Acta Neurol Belg. 2017 Mar;117(1):159-167. doi: 10.1007/s13760-016-0721-3. Epub 2016 Nov 14.
|
117 |
High-throughput genetic characterization of a cohort of Brugada syndrome patients.Hum Mol Genet. 2015 Oct 15;24(20):5828-35. doi: 10.1093/hmg/ddv302. Epub 2015 Jul 28.
|
118 |
Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB.Eur J Hum Genet. 2017 Jun;25(6):775-778. doi: 10.1038/ejhg.2017.39. Epub 2017 Apr 5.
|
119 |
De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities.Neurol Genet. 2017 Sep 22;3(5):e187. doi: 10.1212/NXG.0000000000000187. eCollection 2017 Oct.
|
120 |
De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability. Am J Med Genet A. 2019 Apr;179(4):570-578. doi: 10.1002/ajmg.a.61061. Epub 2019 Feb 7.
|
121 |
Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.Am J Med Genet A. 2017 Sep;173(9):2545-2550. doi: 10.1002/ajmg.a.38348. Epub 2017 Aug 4.
|
122 |
Vanishing white matter disease in a spanish population.J Cent Nerv Syst Dis. 2014 Jul 13;6:59-68. doi: 10.4137/JCNSD.S13540. eCollection 2014.
|
123 |
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.Cell. 2013 Nov 21;155(5):997-1007. doi: 10.1016/j.cell.2013.10.020.
|
124 |
Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception. PLoS Genet. 2016 Dec 6;12(12):e1006461. doi: 10.1371/journal.pgen.1006461. eCollection 2016 Dec.
|
125 |
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.Neurology. 2017 Jan 31;88(5):483-492. doi: 10.1212/WNL.0000000000003565. Epub 2017 Jan 4.
|
126 |
Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.Mayo Clin Proc. 2016 Mar;91(3):297-307. doi: 10.1016/j.mayocp.2015.12.018.
|
127 |
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.Sci Rep. 2016 Jun 29;6:28755. doi: 10.1038/srep28755.
|
128 |
Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy.Eur J Hum Genet. 2017 Feb;25(3):366-370. doi: 10.1038/ejhg.2016.189. Epub 2016 Dec 21.
|
129 |
Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.Clin Genet. 2018 Feb;93(2):301-309. doi: 10.1111/cge.13101. Epub 2017 Dec 12.
|
130 |
Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.Am J Med Genet A. 2017 Apr;173(4):1115-1118. doi: 10.1002/ajmg.a.38131. Epub 2017 Mar 3.
|
131 |
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.Am J Med Genet A. 2018 Jan;176(1):181-186. doi: 10.1002/ajmg.a.38536. Epub 2017 Nov 21.
|
132 |
MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review.Eur J Med Genet. 2016 Sep;59(9):478-82. doi: 10.1016/j.ejmg.2016.05.017. Epub 2016 May 31.
|
133 |
MMACHC gene mutation in familial hypogonadism with neurological symptoms.Gene. 2015 Dec 15;574(2):380-4. doi: 10.1016/j.gene.2015.08.029. Epub 2015 Aug 14.
|
134 |
A patient with mitochondrial disorder due to a novel mutation in MRPS22.Metab Brain Dis. 2017 Oct;32(5):1389-1393. doi: 10.1007/s11011-017-0074-5. Epub 2017 Jul 27.
|
135 |
Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects.Eur J Med Genet. 2014 May-Jun;57(6):267-8. doi: 10.1016/j.ejmg.2014.03.004. Epub 2014 Mar 18.
|
136 |
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.Genet Med. 2017 Feb;19(2):160-168. doi: 10.1038/gim.2016.75. Epub 2016 Jul 7.
|
137 |
Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.Mol Genet Metab. 2012 Jul;106(3):330-44. doi: 10.1016/j.ymgme.2012.03.012. Epub 2012 May 8.
|
138 |
NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.Neurology. 2013 Apr 23;80(17):1577-83. doi: 10.1212/WNL.0b013e31828f1914. Epub 2013 Apr 3.
|
139 |
Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly.Hum Genome Var. 2016 Feb 4;3:15069. doi: 10.1038/hgv.2015.69. eCollection 2016.
|
140 |
Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.Mol Vis. 2015 Aug 18;21:871-82. eCollection 2015.
|
141 |
Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.J Mol Diagn. 2016 May;18(3):446-453. doi: 10.1016/j.jmoldx.2016.01.002. Epub 2016 Mar 2.
|
142 |
PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.Clin Genet. 2018 Jan;93(1):84-91. doi: 10.1111/cge.13033. Epub 2017 Aug 4.
|
143 |
Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.Eur J Paediatr Neurol. 2016 May;20(3):462-73. doi: 10.1016/j.ejpn.2016.01.007. Epub 2016 Feb 4.
|
144 |
Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.Brain. 2016 Mar;139(Pt 3):e19. doi: 10.1093/brain/awv362. Epub 2015 Dec 10.
|
145 |
Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism.Am J Med Genet A. 2017 Jul;173(7):1965-1969. doi: 10.1002/ajmg.a.38255. Epub 2017 May 7.
|
146 |
A truncated PACT protein resulting from a frameshift mutation reported in movement disorder DYT16 triggers caspase activation and apoptosis.J Cell Biochem. 2019 Nov;120(11):19004-19018. doi: 10.1002/jcb.29223. Epub 2019 Jun 27.
|
147 |
Movement disorders phenomenology in focal motor seizures.Parkinsonism Relat Disord. 2019 Apr;61:161-165. doi: 10.1016/j.parkreldis.2018.10.021. Epub 2018 Oct 16.
|
148 |
Clinical, biochemical and molecular characterization of prosaposin deficiency.Clin Genet. 2016 Sep;90(3):220-9. doi: 10.1111/cge.12753. Epub 2016 Feb 19.
|
149 |
Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.Eur J Hum Genet. 2015 Dec;23(12):1694-701. doi: 10.1038/ejhg.2015.37. Epub 2015 Mar 18.
|
150 |
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.J Med Genet. 2018 Feb;55(2):104-113. doi: 10.1136/jmedgenet-2017-104946. Epub 2017 Nov 2.
|
151 |
Rbfox2 function in RNA metabolism is impaired in hypoplastic left heart syndrome patient hearts.Sci Rep. 2016 Aug 3;6:30896. doi: 10.1038/srep30896.
|
152 |
DEPDC5 mutations in familial and sporadic focal epilepsy.Clin Genet. 2017 Oct;92(4):397-404. doi: 10.1111/cge.12992. Epub 2017 Mar 30.
|
153 |
High frequency of SH3TC2 mutations in Czech HMSN I patients.Clin Genet. 2011 Oct;80(4):334-45. doi: 10.1111/j.1399-0004.2011.01640.x. Epub 2011 Mar 1.
|
154 |
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.Brain Dev. 2015 May;37(5):527-36. doi: 10.1016/j.braindev.2014.08.009. Epub 2014 Sep 22.
|
155 |
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.Mol Syndromol. 2016 Sep;7(4):210-219. doi: 10.1159/000448369. Epub 2016 Aug 20.
|
156 |
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology. 2016 Mar 8;86(10):954-62. doi: 10.1212/WNL.0000000000002457. Epub 2016 Feb 10.
|
157 |
Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.BMC Med Genet. 2017 Jun 2;18(1):62. doi: 10.1186/s12881-017-0425-4.
|
158 |
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.Eur J Med Genet. 2017 Nov;60(11):565-571. doi: 10.1016/j.ejmg.2017.08.004. Epub 2017 Aug 12.
|
159 |
Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1.BMJ Case Rep. 2019 May 27;12(5):e228782. doi: 10.1136/bcr-2018-228782.
|
160 |
Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing.Mol Cell Probes. 2017 Jun;33:24-27. doi: 10.1016/j.mcp.2017.03.001. Epub 2017 Mar 3.
|
161 |
Developmental changes in trak-mediated mitochondrial transport in neurons.Mol Cell Neurosci. 2017 Apr;80:134-147. doi: 10.1016/j.mcn.2017.03.006. Epub 2017 Mar 11.
|
162 |
Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype.Neuropediatrics. 2015 Apr;46(2):134-8. doi: 10.1055/s-0034-1399754. Epub 2015 Feb 2.
|
163 |
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Nat Genet. 2017 Apr;49(4):515-526. doi: 10.1038/ng.3792. Epub 2017 Feb 13.
|
164 |
ALS2/alsin knockout mice and motor neuron diseases.Neurodegener Dis. 2008;5(6):359-66. doi: 10.1159/000151295. Epub 2008 Aug 20.
|
165 |
Role of ANO3 mutations in dystonia: A large-scale mutational screening study.Parkinsonism Relat Disord. 2019 May;62:196-200. doi: 10.1016/j.parkreldis.2018.12.030. Epub 2019 Jan 2.
|
166 |
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.Eur J Hum Genet. 2015 Feb;23(2):256-9. doi: 10.1038/ejhg.2014.73. Epub 2014 Apr 30.
|
167 |
Methamphetamine-induced stereotypy correlates negatively with patch-enhanced prodynorphin and arc mRNA expression in the rat caudate putamen: the role of mu opioid receptor activation.Pharmacol Biochem Behav. 2010 Jun;95(4):410-21. doi: 10.1016/j.pbb.2010.02.019. Epub 2010 Mar 15.
|
168 |
The expanding phenotypic spectrum of ARFGEF2 gene mutation: Cardiomyopathy and movement disorder.Brain Dev. 2016 Jan;38(1):124-7. doi: 10.1016/j.braindev.2015.06.004. Epub 2015 Jun 28.
|
169 |
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. J Med Genet. 2017 Feb;54(2):84-86. doi: 10.1136/jmedgenet-2016-103943. Epub 2016 Jul 7.
|
170 |
A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder.Dev Med Child Neurol. 2010 Mar;52(3):305-7. doi: 10.1111/j.1469-8749.2009.03470.x. Epub 2010 Feb 4.
|
171 |
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.Orphanet J Rare Dis. 2018 May 31;13(1):86. doi: 10.1186/s13023-018-0825-3.
|
172 |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003.
|
173 |
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder. J Med Genet. 2015 Aug;52(8):532-40. doi: 10.1136/jmedgenet-2015-103049. Epub 2015 Mar 18.
|
174 |
Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017 Feb 23;542(7642):433-438. doi: 10.1038/nature21062. Epub 2017 Jan 25.
|
175 |
Clinical relevance of heterozygosis for aceruloplasminemia.Am J Med Genet B Neuropsychiatr Genet. 2019 Jun;180(4):266-271. doi: 10.1002/ajmg.b.32723. Epub 2019 Mar 22.
|
176 |
-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy. Neurology. 2017 Dec 5;89(23):2341-2350. doi: 10.1212/WNL.0000000000004709. Epub 2017 Nov 10.
|
177 |
Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.Am J Med Genet A. 2016 Jun;170(6):1502-9. doi: 10.1002/ajmg.a.37632. Epub 2016 Mar 26.
|
178 |
Before and after the veterans affairs cooperative program 468 study: Deep brain stimulator target selection for treatment of Parkinson's disease.Parkinsonism Relat Disord. 2018 Mar;48:40-44. doi: 10.1016/j.parkreldis.2017.12.013. Epub 2017 Dec 12.
|
179 |
New Insights of a Neuronal Peptidase DINE/ECEL1: Nerve Development, Nerve Regeneration and Neurogenic Pathogenesis.Neurochem Res. 2019 Jun;44(6):1279-1288. doi: 10.1007/s11064-018-2665-x. Epub 2018 Oct 24.
|
180 |
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Am J Hum Genet. 2016 Mar 3;98(3):562-570. doi: 10.1016/j.ajhg.2016.01.011.
|
181 |
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. Genet Med. 2016 May;18(5):483-93. doi: 10.1038/gim.2015.110. Epub 2015 Jul 23.
|
182 |
A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. Eur J Hum Genet. 2016 Aug;24(8):1206-10. doi: 10.1038/ejhg.2015.261. Epub 2015 Dec 16.
|
183 |
Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.Front Med. 2016 Jun;10(2):137-42. doi: 10.1007/s11684-016-0449-8. Epub 2016 May 3.
|
184 |
The Interaction of Genetic Mutations in PARK2 and FA2H Causes a Novel Phenotype in a Case of Childhood-Onset Movement Disorder.Front Neurol. 2019 May 29;10:555. doi: 10.3389/fneur.2019.00555. eCollection 2019.
|
185 |
Fragile X-associated tremor/ataxia syndrome: An under-recognised cause of tremor and ataxia.J Clin Neurosci. 2016 Jan;23:162-164. doi: 10.1016/j.jocn.2015.08.010. Epub 2015 Oct 2.
|
186 |
Striatal fosB expression is causally linked with l-DOPA-induced abnormal involuntary movements and the associated upregulation of striatal prodynorphin mRNA in a rat model of Parkinson's disease.Neurobiol Dis. 1999 Dec;6(6):461-74. doi: 10.1006/nbdi.1999.0259.
|
187 |
Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndrome.Eur J Paediatr Neurol. 2018 Mar;22(2):336-339. doi: 10.1016/j.ejpn.2018.01.007. Epub 2018 Jan 31.
|
188 |
Neuroferritinopathy.Int Rev Neurobiol. 2013;110:91-123. doi: 10.1016/B978-0-12-410502-7.00006-5.
|
189 |
Sequence variations in mitochondrial ferritin: distribution in healthy controls and different types of patients.Genet Test Mol Biomarkers. 2010 Dec;14(6):793-6. doi: 10.1089/gtmb.2010.0076. Epub 2010 Oct 12.
|
190 |
Prenatal diagnosis of fetal glutaric aciduria type 1 with rare compound heterozygous mutations in GCDH gene.Taiwan J Obstet Gynecol. 2018 Feb;57(1):137-140. doi: 10.1016/j.tjog.2017.12.023.
|
191 |
Deregulation of glutamate dehydrogenase in human neurologic disorders.J Neurosci Res. 2013 Aug;91(8):1007-17. doi: 10.1002/jnr.23176. Epub 2013 Mar 6.
|
192 |
Gnal haploinsufficiency causes genomic instability and increased sensitivity to haloperidol.Exp Neurol. 2019 Aug;318:61-70. doi: 10.1016/j.expneurol.2019.04.014. Epub 2019 Apr 26.
|
193 |
Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.Neurogenetics. 2012 Feb;13(1):31-47. doi: 10.1007/s10048-011-0306-5. Epub 2012 Jan 5.
|
194 |
Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.Mov Disord. 2014 Jan;29(1):139-43. doi: 10.1002/mds.25704. Epub 2013 Oct 30.
|
195 |
Mitochondrial dysfunction triggered by loss of HtrA2 results in the activation of a brain-specific transcriptional stress response.Cell Death Differ. 2009 Mar;16(3):449-64. doi: 10.1038/cdd.2008.166. Epub 2008 Nov 21.
|
196 |
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.Neurogenetics. 2019 Mar;20(1):27-38. doi: 10.1007/s10048-019-00565-6. Epub 2019 Feb 19.
|
197 |
Autoimmune encephalitis with anti-IgLON5 and anti-GABAB-receptor antibodies: A case report.Medicine (Baltimore). 2019 May;98(20):e15706. doi: 10.1097/MD.0000000000015706.
|
198 |
Oxidative Stress Regulated Iron Regulatory Protein IRP2 Through FBXL5-Mediated Ubiquitination-Proteasome Way in SH-SY5Y Cells.Front Neurosci. 2019 Jan 29;13:20. doi: 10.3389/fnins.2019.00020. eCollection 2019.
|
199 |
A South African mixed ancestry family with Huntington disease-like 2: clinical and genetic features.Mov Disord. 2007 Oct 31;22(14):2083-9. doi: 10.1002/mds.21672.
|
200 |
KCTD: A new gene family involved in neurodevelopmental and neuropsychiatric disorders.CNS Neurosci Ther. 2019 Jul;25(7):887-902. doi: 10.1111/cns.13156.
|
201 |
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat Genet. 2017 Feb;49(2):223-237. doi: 10.1038/ng.3740. Epub 2016 Dec 19.
|
202 |
Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.J Med Genet. 2016 May;53(5):318-29. doi: 10.1136/jmedgenet-2015-103416. Epub 2016 Jan 13.
|
203 |
Movement disorders associated with neuronal antibodies.Acta Neurol Scand. 2019 Feb;139(2):106-117. doi: 10.1111/ane.13039. Epub 2018 Nov 6.
|
204 |
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nat Genet. 2014 Feb;46(2):188-93. doi: 10.1038/ng.2851. Epub 2013 Dec 15.
|
205 |
Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.Brain. 2015 Nov;138(Pt 11):3180-92. doi: 10.1093/brain/awv241. Epub 2015 Aug 25.
|
206 |
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. PLoS Genet. 2016 Jan 7;12(1):e1005679. doi: 10.1371/journal.pgen.1005679. eCollection 2016 Jan.
|
207 |
Mutation analysis of the parkin gene in Russian families with autosomal recessive juvenile parkinsonism.Mov Disord. 2003 Aug;18(8):914-9. doi: 10.1002/mds.10467.
|
208 |
AAV2-Neurturin for Parkinson's Disease: What Lessons Have We Learned?.Methods Mol Biol. 2016;1382:485-90. doi: 10.1007/978-1-4939-3271-9_32.
|
209 |
The FOsmetpantotenate Replacement Therapy (FORT) randomized, double-blind, Placebo-controlled pivotal trial: Study design and development methodology of a novel primary efficacy outcome in patients with pantothenate kinase-associated neurodegeneration.Clin Trials. 2019 Aug;16(4):410-418. doi: 10.1177/1740774519845673. Epub 2019 May 6.
|
210 |
Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q.Am J Hum Genet. 1996 Jul;59(1):140-5.
|
211 |
Clinical findings of autosomal-dominant striatal degeneration and PDE8B mutation screening in parkinsonism and related disorders.Parkinsonism Relat Disord. 2019 Dec;69:94-98. doi: 10.1016/j.parkreldis.2019.11.002. Epub 2019 Nov 5.
|
212 |
Impact of sleep-related symptoms on clinical motor subtypes and disability in Parkinson's disease: a multicentre cross-sectional study.J Neurol Neurosurg Psychiatry. 2017 Nov;88(11):953-959. doi: 10.1136/jnnp-2017-316136. Epub 2017 Aug 28.
|
213 |
'Atypical' Parkinson's disease - genetic.Int Rev Neurobiol. 2019;149:207-235. doi: 10.1016/bs.irn.2019.10.011. Epub 2019 Nov 25.
|
214 |
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.Brain. 2019 Mar 1;142(3):542-559. doi: 10.1093/brain/awy346.
|
215 |
The clinical and genetic heterogeneity of paroxysmal dyskinesias.Brain. 2015 Dec;138(Pt 12):3567-80. doi: 10.1093/brain/awv310. Epub 2015 Nov 23.
|
216 |
The Past, Present, and Future of Neurorehabilitation: From NUSTEP Through IV STEP and Beyond.J Neurol Phys Ther. 2017 Jul;41 Suppl 3:S3-S9. doi: 10.1097/NPT.0000000000000193.
|
217 |
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.Am J Hum Genet. 2018 Jan 4;102(1):44-57. doi: 10.1016/j.ajhg.2017.11.008. Epub 2017 Dec 21.
|
218 |
TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation.Aging Cell. 2017 Apr;16(2):281-292. doi: 10.1111/acel.12551. Epub 2016 Dec 20.
|
219 |
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.Brain. 2009 Oct;132(Pt 10):2688-98. doi: 10.1093/brain/awp211. Epub 2009 Aug 20.
|
220 |
Myoclonus-dystonia: Distinctive motor and non-motor phenotype from other dystonia syndromes.Parkinsonism Relat Disord. 2019 Dec;69:85-90. doi: 10.1016/j.parkreldis.2019.10.015. Epub 2019 Oct 22.
|
221 |
SIL1-related Marinesco-Sjoegren syndrome (MSS) with associated motor neuronopathy and bradykinetic movement disorder.Neuromuscul Disord. 2015 Jul;25(7):585-8. doi: 10.1016/j.nmd.2015.04.003. Epub 2015 Apr 14.
|
222 |
Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.Am J Med Genet A. 2017 Feb;173(2):414-420. doi: 10.1002/ajmg.a.38030. Epub 2016 Nov 7.
|
223 |
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. Am J Hum Genet. 2016 Sep 1;99(3):711-719. doi: 10.1016/j.ajhg.2016.06.029. Epub 2016 Aug 18.
|
224 |
Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.Eur J Hum Genet. 2016 Jun;24(6):857-63. doi: 10.1038/ejhg.2015.200. Epub 2015 Sep 16.
|
225 |
Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome. Blood. 2011 Nov 10;118(19):5267-77. doi: 10.1182/blood-2010-12-326645. Epub 2011 Jul 26.
|
226 |
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.Eur J Neurol. 2020 Mar;27(3):498-505. doi: 10.1111/ene.14094. Epub 2019 Nov 1.
|
227 |
A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder.J Child Neurol. 2017 Feb;32(2):246-250. doi: 10.1177/0883073816666221. Epub 2016 Sep 28.
|
228 |
Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India.Mitochondrion. 2016 Mar;27:1-5. doi: 10.1016/j.mito.2015.12.009. Epub 2016 Jan 4.
|
229 |
A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism.Ann Neurol. 2019 Jun;85(6):812-822. doi: 10.1002/ana.25488. Epub 2019 May 3.
|
230 |
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.Brain. 2019 Aug 1;142(8):2319-2335. doi: 10.1093/brain/awz175.
|
231 |
Joubert syndrome: genotyping a Northern European patient cohort.Eur J Hum Genet. 2016 Feb;24(2):214-20. doi: 10.1038/ejhg.2015.84. Epub 2015 Apr 29.
|
232 |
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. Am J Hum Genet. 2013 Jul 11;93(1):181-90. doi: 10.1016/j.ajhg.2013.05.028. Epub 2013 Jul 3.
|
233 |
TTBK2 kinase substrate specificity and the impact of spinocerebellar-ataxia-causing mutations on expression, activity, localization and development.Biochem J. 2011 Jul 1;437(1):157-67. doi: 10.1042/BJ20110276.
|
234 |
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
|
235 |
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204.
|
|
|
|
|
|
|