1 |
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.Neurogenetics. 2016 Jan;17(1):11-6. doi: 10.1007/s10048-015-0460-2. Epub 2015 Sep 22.
|
2 |
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.Genet Med. 2017 Sep;19(9):1040-1048. doi: 10.1038/gim.2016.224. Epub 2017 Mar 2.
|
3 |
Protein kinase C activity is a protective modifier of Purkinje neuron degeneration in cerebellar ataxia.Hum Mol Genet. 2018 Apr 15;27(8):1396-1410. doi: 10.1093/hmg/ddy050.
|
4 |
Genetic and clinical analyses of spinocerebellar ataxia type 8 in mainland China.J Neurol. 2019 Dec;266(12):2979-2986. doi: 10.1007/s00415-019-09519-2. Epub 2019 Aug 30.
|
5 |
Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey.Neurogenetics. 2020 Jan;21(1):59-66. doi: 10.1007/s10048-019-00597-y. Epub 2019 Nov 19.
|
6 |
Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13.Am J Med Genet A. 2014 Jul;164A(7):1734-43. doi: 10.1002/ajmg.a.36391. Epub 2014 May 7.
|
7 |
Studying TDP1 Function in DNA Repair.Methods Mol Biol. 2018;1703:173-181. doi: 10.1007/978-1-4939-7459-7_13.
|
8 |
Novel 2-methylimidazolium salts: Synthesis, characterization, molecular docking, and carbonic anhydrase and acetylcholinesterase inhibitory properties.Bioorg Chem. 2020 Jan;94:103468. doi: 10.1016/j.bioorg.2019.103468. Epub 2019 Nov 23.
|
9 |
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.JAMA Neurol. 2018 Apr 1;75(4):495-502. doi: 10.1001/jamaneurol.2017.4373.
|
10 |
-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations.Hum Mol Genet. 2014 Jul 15;23(14):3875-82. doi: 10.1093/hmg/ddu103. Epub 2014 Mar 6.
|
11 |
Migraine genetics: an update.Curr Pain Headache Rep. 2005 Jun;9(3):213-20. doi: 10.1007/s11916-005-0065-9.
|
12 |
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. Am J Hum Genet. 2019 Apr 4;104(4):701-708. doi: 10.1016/j.ajhg.2019.02.002. Epub 2019 Mar 14.
|
13 |
C9orf72 and ATXN2 repeat expansions coexist in a family with ataxia, dementia, and parkinsonism.Mov Disord. 2017 Jan;32(1):158-162. doi: 10.1002/mds.26841. Epub 2016 Nov 7.
|
14 |
The neuropsychiatric phenotype in CACNA1A mutations: a retrospective single center study and review of the literature.Eur J Neurol. 2019 Jan;26(1):66-e7. doi: 10.1111/ene.13765. Epub 2018 Sep 3.
|
15 |
Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations.Pediatr Neurol. 2020 Mar;104:40-45. doi: 10.1016/j.pediatrneurol.2019.09.005. Epub 2019 Oct 19.
|
16 |
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.
|
17 |
Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review.Orphanet J Rare Dis. 2019 Apr 25;14(1):83. doi: 10.1186/s13023-019-1053-1.
|
18 |
Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.Hum Mol Genet. 2014 Dec 1;23(23):6163-76. doi: 10.1093/hmg/ddu337. Epub 2014 Jul 1.
|
19 |
SCA27 caused by a chromosome translocation: further delineation of the phenotype.Neurogenetics. 2009 Oct;10(4):371-4. doi: 10.1007/s10048-009-0197-x. Epub 2009 May 27.
|
20 |
Formation and thermodynamic stability of intermolecular (R*R*Y) DNA triplex in GAA/TTC repeats associated with Freidreich's ataxia.J Biomol Struct Dyn. 2002 Feb;19(4):691-9. doi: 10.1080/07391102.2002.10506775.
|
21 |
Anti-glutamate Dehydrogenase Antibody Positive Cerebellar Ataxia and Stiff Person Syndrome Responding to Dual Treatment with Steroids and Intravenous Immunoglobulin: A Case Presentation and Literature Review.Cureus. 2019 Jun 6;11(6):e4851. doi: 10.7759/cureus.4851.
|
22 |
Anti-glutamic acid decarboxylase (GAD) positive cerebellar Ataxia with transitioning to progressive encephalomyelitis with rigidity and myoclonus (PERM), responsive to immunotherapy: A case report and review of literature.J Neuroimmunol. 2019 Jul 15;332:135-137. doi: 10.1016/j.jneuroim.2019.04.003. Epub 2019 Apr 6.
|
23 |
Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia.Neurogenetics. 2016 Apr;17(2):137-41. doi: 10.1007/s10048-016-0476-2. Epub 2016 Feb 26.
|
24 |
Gap junctions in inherited human disorders of the central nervous system.Biochim Biophys Acta. 2012 Aug;1818(8):2030-47. doi: 10.1016/j.bbamem.2011.08.015. Epub 2011 Aug 16.
|
25 |
Acute Ethanol Produces Ataxia and Induces Fmr1 Expression via Histone Modifications in the Rat Cerebellum.Alcohol Clin Exp Res. 2019 Jun;43(6):1191-1198. doi: 10.1111/acer.14044. Epub 2019 May 14.
|
26 |
Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria.Hum Mol Genet. 2019 Jun 1;28(11):1755-1767. doi: 10.1093/hmg/ddz003.
|
27 |
Autonomous Purkinje cell axonal dystrophy causes ataxia in peroxisomal multifunctional protein-2 deficiency.Brain Pathol. 2018 Sep;28(5):631-643. doi: 10.1111/bpa.12586. Epub 2018 Feb 21.
|
28 |
Inhibition of Hsp27 radiosensitizes head-and-neck cancer by modulating deoxyribonucleic acid repair.Int J Radiat Oncol Biol Phys. 2013 Sep 1;87(1):168-75. doi: 10.1016/j.ijrobp.2013.05.028. Epub 2013 Jul 9.
|
29 |
Huntington disease-like 2 (HDL2) in Venezuela: frequency and ethnic origin.J Hum Genet. 2013 Jan;58(1):3-6. doi: 10.1038/jhg.2012.111. Epub 2012 Sep 13.
|
30 |
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.Nat Commun. 2019 Oct 21;10(1):4790. doi: 10.1038/s41467-019-12620-9.
|
31 |
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties.Ann Neurol. 2017 May;81(5):677-689. doi: 10.1002/ana.24929.
|
32 |
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.
|
33 |
Spinocerebellar ataxia type 13 is an uncommon SCA subtype in the Chinese Han population.Int J Neurosci. 2013 Jul;123(7):450-3. doi: 10.3109/00207454.2013.763254. Epub 2013 Feb 11.
|
34 |
Novel SCA19/22-associated KCND3 mutations disrupt human K(V) 4.3 protein biosynthesis and channel gating.Hum Mutat. 2019 Nov;40(11):2088-2107. doi: 10.1002/humu.23865. Epub 2019 Aug 17.
|
35 |
Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia.Cerebellum. 2018 Aug;17(4):499-503. doi: 10.1007/s12311-018-0924-7.
|
36 |
Novel truncated isoform of SK3 potassium channel is a potent dominant-negative regulator of SK currents: implications in schizophrenia.Mol Psychiatry. 2003 May;8(5):524-35, 460. doi: 10.1038/sj.mp.4001271.
|
37 |
Autoantibodies from patients with idiopathic ataxia bind to M-phase phosphoprotein-1 (MPP1).J Investig Med. 2000 Jan;48(1):28-39.
|
38 |
Anti-MAG associated cerebellar ataxia and response to rituximab.J Neurol. 2018 Jan;265(1):115-118. doi: 10.1007/s00415-017-8675-9. Epub 2017 Nov 20.
|
39 |
Evidence That Sedative Effects of Benzodiazepines Involve Unexpected GABA(A) Receptor Subtypes: Quantitative Observation Studies in Rhesus Monkeys.J Pharmacol Exp Ther. 2018 Jul;366(1):145-157. doi: 10.1124/jpet.118.249250. Epub 2018 May 2.
|
40 |
MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders.Brain Dev. 2012 Jun;34(6):487-95. doi: 10.1016/j.braindev.2011.09.002. Epub 2011 Oct 6.
|
41 |
Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations.Ophthalmic Genet. 2017 Jul-Aug;38(4):340-344. doi: 10.1080/13816810.2016.1227459. Epub 2017 Jan 17.
|
42 |
Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome).Stem Cell Res. 2016 Sep;17(2):426-429. doi: 10.1016/j.scr.2016.09.012. Epub 2016 Sep 17.
|
43 |
Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia.Eur J Hum Genet. 1999 Jul;7(5):541-8. doi: 10.1038/sj.ejhg.5200320.
|
44 |
Protein kinase N1 critically regulates cerebellar development and long-term function.J Clin Invest. 2018 May 1;128(5):2076-2088. doi: 10.1172/JCI96165. Epub 2018 Apr 16.
|
45 |
ER responses play a key role in Swiss-Cheese/Neuropathy Target Esterase-associated neurodegeneration.Neurobiol Dis. 2019 Oct;130:104520. doi: 10.1016/j.nbd.2019.104520. Epub 2019 Jun 22.
|
46 |
A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's disease and prominent cerebellar ataxia.J Alzheimers Dis. 2014;41(3):709-14. doi: 10.3233/JAD-140081.
|
47 |
Regulator of G protein signaling 6 (RGS6) protein ensures coordination of motor movement by modulating GABAB receptor signaling.J Biol Chem. 2012 Feb 10;287(7):4972-81. doi: 10.1074/jbc.M111.297218. Epub 2011 Dec 16.
|
48 |
Insights into pathophysiology and therapy from a mouse model of Dravet syndrome.Epilepsia. 2011 Apr;52 Suppl 2(Suppl 2):59-61. doi: 10.1111/j.1528-1167.2011.03004.x.
|
49 |
Mutations in the Scn8a DIIS4 voltage sensor reveal new distinctions among hypomorphic and null Na(v) 1.6 sodium channels.Genes Brain Behav. 2020 Apr;19(4):e12612. doi: 10.1111/gbb.12612. Epub 2019 Oct 28.
|
50 |
Homozygous contiguous gene deletion of 13q12 causing LGMD2C and ARSACS in the same patient.Muscle Nerve. 2009 Mar;39(3):396-9. doi: 10.1002/mus.21222.
|
51 |
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.
|
52 |
Clinical reasoning: novel GLUT1-DS mutation: refractory seizures and ataxia.Neurology. 2015 Apr 14;84(15):e111-4. doi: 10.1212/WNL.0000000000001467.
|
53 |
PLS3 Overexpression Delays Ataxia in Chp1 Mutant Mice.Front Neurosci. 2019 Sep 19;13:993. doi: 10.3389/fnins.2019.00993. eCollection 2019.
|
54 |
Normal and cancer-prone human cells respond differently to extremely low frequency magnetic fields.FEBS Lett. 2001 Jan 5;487(3):397-403. doi: 10.1016/s0014-5793(00)02376-0.
|
55 |
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23).Cerebellum. 2019 Oct;18(5):972-975. doi: 10.1007/s12311-019-01069-7.
|
56 |
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). Hum Mutat. 2013 May;34(5):706-13. doi: 10.1002/humu.22292. Epub 2013 Mar 11.
|
57 |
Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.Neurology. 2018 Mar 6;90(10):464-471. doi: 10.1212/WNL.0000000000005055. Epub 2018 Feb 9.
|
58 |
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.Hum Mol Genet. 2018 Jun 1;27(11):1892-1904. doi: 10.1093/hmg/ddy096.
|
59 |
The Machado-Joseph disease-associated mutant form of ataxin-3 regulates parkin ubiquitination and stability.Hum Mol Genet. 2011 Jan 1;20(1):141-54. doi: 10.1093/hmg/ddq452. Epub 2010 Oct 11.
|
60 |
Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder.Ann Neurol. 2001 Apr;49(4):486-92.
|
61 |
From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations.Am J Med Genet A. 2019 Nov;179(11):2277-2283. doi: 10.1002/ajmg.a.61339. Epub 2019 Aug 22.
|
62 |
Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry.Eur J Hum Genet. 2016 Apr;24(4):550-5. doi: 10.1038/ejhg.2015.139. Epub 2015 Aug 5.
|
63 |
Ataxia and dysarthria due to an ABCA2 variant: Extension of the phenotypic spectrum.Parkinsonism Relat Disord. 2019 Jul;64:328-331. doi: 10.1016/j.parkreldis.2019.04.017. Epub 2019 Apr 25.
|
64 |
Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia.PLoS One. 2017 May 8;12(5):e0177296. doi: 10.1371/journal.pone.0177296. eCollection 2017.
|
65 |
The juvenile myoclonic epilepsy mutant of the calcium channel (4) subunit displays normal nuclear targeting in nerve and muscle cells.Channels (Austin). 2014;8(4):334-43. doi: 10.4161/chan.29322.
|
66 |
Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene.J Korean Med Sci. 2010 Jan;25(1):172-5. doi: 10.3346/jkms.2010.25.1.172. Epub 2009 Dec 26.
|
67 |
Successful Treatment of Electrographic Status Epilepticus of Sleep With Felbamate in a Patient With SLC9A6 Mutation.Pediatr Neurol. 2015 Dec;53(6):527-31. doi: 10.1016/j.pediatrneurol.2015.07.007. Epub 2015 Jul 22.
|
68 |
A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).Epilepsy Res. 2014 May;108(4):811-5. doi: 10.1016/j.eplepsyres.2014.02.009. Epub 2014 Feb 19.
|
69 |
Expanding the Phenotype: Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements and Lactic Acidosis, With or Without Seizures (NEMMLAS) due to WARS2 Biallelic Variants, Encoding Mitochondrial Tryptophanyl-tRNA Synthase.J Child Neurol. 2019 Oct;34(12):778-781. doi: 10.1177/0883073819854604. Epub 2019 Jul 8.
|
70 |
Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X; autosome translocations.Genomics. 1992 May;13(1):211-2. doi: 10.1016/0888-7543(92)90223-f.
|
71 |
Clinical and genetic analysis of Taiwanese patients with hereditary spastic paraplegia type 5.Eur J Neurol. 2015 Jan;22(1):211-4. doi: 10.1111/ene.12407. Epub 2014 Mar 18.
|
72 |
Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans. PLoS Biol. 2012;10(3):e1001288. doi: 10.1371/journal.pbio.1001288. Epub 2012 Mar 20.
|
73 |
Discrepancy between perfusion- and diffusion-weighted images in ischemic stroke: A case report.Medicine (Baltimore). 2018 Dec;97(52):e13894. doi: 10.1097/MD.0000000000013894.
|
74 |
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.Int J Mol Sci. 2018 Feb 22;19(2):619. doi: 10.3390/ijms19020619.
|
75 |
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.Brain. 2010 Nov;133(11):3210-20. doi: 10.1093/brain/awq261. Epub 2010 Sep 17.
|
76 |
Epilepsy, cerebral calcifications, and gluten-related disorders: Are anti-transglutaminase 6 antibodies the missing link?.Seizure. 2019 Dec;73:17-20. doi: 10.1016/j.seizure.2019.10.012. Epub 2019 Oct 16.
|
77 |
A Postural Tremor Highly Responsive to Transcranial Cerebello-Cerebral DCS in ARCA3.Front Neurol. 2017 Mar 3;8:71. doi: 10.3389/fneur.2017.00071. eCollection 2017.
|
78 |
Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III).Hum Mol Genet. 2015 Apr 1;24(7):1856-68. doi: 10.1093/hmg/ddu603. Epub 2014 Dec 1.
|
79 |
Treadmill training increases the motor activity and neuron survival of the cerebellum in a mouse model of spinocerebellar ataxia type 1.Kaohsiung J Med Sci. 2019 Nov;35(11):679-685. doi: 10.1002/kjm2.12106. Epub 2019 Jul 4.
|
80 |
Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.Parkinsonism Relat Disord. 2019 Nov;68:8-16. doi: 10.1016/j.parkreldis.2019.09.015. Epub 2019 Sep 28.
|
81 |
Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.BMC Med Genet. 2017 Dec 6;18(1):144. doi: 10.1186/s12881-017-0504-6.
|
82 |
Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy.Parkinsonism Relat Disord. 2019 Jun;63:66-72. doi: 10.1016/j.parkreldis.2019.02.045. Epub 2019 Mar 1.
|
83 |
Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases.J Neurol. 2013 Jul;260(7):1807-12. doi: 10.1007/s00415-013-6882-6. Epub 2013 Mar 8.
|
84 |
Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features.Proc Natl Acad Sci U S A. 2003 Oct 14;100(21):12325-30. doi: 10.1073/pnas.2033229100. Epub 2003 Oct 3.
|
85 |
A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases.J Mol Neurosci. 2020 Jan;70(1):131-141. doi: 10.1007/s12031-019-01410-z. Epub 2019 Nov 7.
|
86 |
Paediatric motor phenotypes in early-onset ataxia, developmental coordination disorder, and central hypotonia.Dev Med Child Neurol. 2020 Jan;62(1):75-82. doi: 10.1111/dmcn.14355. Epub 2019 Sep 17.
|
87 |
Cerebellar ataxia disease-associated Snx14 promotes lipid droplet growth at ER-droplet contacts.J Cell Biol. 2019 Apr 1;218(4):1335-1351. doi: 10.1083/jcb.201808133. Epub 2019 Feb 14.
|
88 |
Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia.J Child Neurol. 2020 Feb;35(2):106-110. doi: 10.1177/0883073819878917. Epub 2019 Oct 16.
|
89 |
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.Neurobiol Dis. 2019 Apr;124:14-28. doi: 10.1016/j.nbd.2018.10.018. Epub 2018 Oct 30.
|
90 |
Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3.Eur J Paediatr Neurol. 2019 May;23(3):448-455. doi: 10.1016/j.ejpn.2019.02.004. Epub 2019 Feb 22.
|
91 |
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.
|
92 |
Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep.Eur J Paediatr Neurol. 2015 Nov;19(6):733-6. doi: 10.1016/j.ejpn.2015.06.006. Epub 2015 Jul 9.
|
93 |
Rpl27a mutation in the sooty foot ataxia mouse phenocopies high p53 mouse models.J Pathol. 2011 Aug;224(4):540-52. doi: 10.1002/path.2891. Epub 2011 Jun 14.
|
94 |
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.Eur J Neurol. 2019 Jan;26(1):80-86. doi: 10.1111/ene.13768. Epub 2018 Sep 3.
|
95 |
Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration.Nature. 2006 Sep 7;443(7107):50-5. doi: 10.1038/nature05096. Epub 2006 Aug 13.
|
96 |
Alanyl-tRNA Synthetase 2 (AARS2)-Related Ataxia Without Leukoencephalopathy.Cerebellum. 2020 Feb;19(1):154-160. doi: 10.1007/s12311-019-01080-y.
|
97 |
Alkaline Ceramidase 3 Deficiency Results in Purkinje Cell Degeneration and Cerebellar Ataxia Due to Dyshomeostasis of Sphingolipids in the Brain.PLoS Genet. 2015 Oct 16;11(10):e1005591. doi: 10.1371/journal.pgen.1005591. eCollection 2015 Oct.
|
98 |
Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder.Eur J Hum Genet. 2019 Apr;27(4):594-602. doi: 10.1038/s41431-018-0321-1. Epub 2019 Jan 18.
|
99 |
Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy. Eur J Hum Genet. 2019 Sep;27(9):1419-1426. doi: 10.1038/s41431-019-0400-y. Epub 2019 Apr 11.
|
100 |
Clinical spectrum of AIFM1-associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness.J Peripher Nerv Syst. 2019 Dec;24(4):348-353. doi: 10.1111/jns.12348. Epub 2019 Oct 10.
|
101 |
Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment.J Hum Genet. 2018 Sep;63(9):1009-1013. doi: 10.1038/s10038-018-0477-0. Epub 2018 Jun 18.
|
102 |
Abnormal cerebellar development and ataxia in CARP VIII morphant zebrafish.Hum Mol Genet. 2013 Feb 1;22(3):417-32. doi: 10.1093/hmg/dds438. Epub 2012 Oct 18.
|
103 |
Diagnosis and treatment of pediatric onset isolated dystonia.Eur J Paediatr Neurol. 2018 Mar;22(2):238-244. doi: 10.1016/j.ejpn.2018.01.006. Epub 2018 Jan 17.
|
104 |
Anti-ARHGAP26 Autoantibodies Are Associated With Isolated Cognitive Impairment.Front Neurol. 2018 Aug 10;9:656. doi: 10.3389/fneur.2018.00656. eCollection 2018.
|
105 |
Clinical and ultrastructural findings in an ataxic variant of Kufor-Rakeb syndrome.Folia Neuropathol. 2019;57(3):285-294. doi: 10.5114/fn.2019.88459.
|
106 |
Survival strategies for mouse cerebellar Purkinje neurons lacking PMCA2.Neurosci Lett. 2018 Jan 10;663:25-28. doi: 10.1016/j.neulet.2017.09.045.
|
107 |
ATP8A2-related disorders as recessive cerebellar ataxia.J Neurol. 2020 Jan;267(1):203-213. doi: 10.1007/s00415-019-09579-4. Epub 2019 Oct 14.
|
108 |
The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patients.Neurol Neurochir Pol. 2010 May-Jun;44(3):238-45. doi: 10.1016/s0028-3843(14)60037-2.
|
109 |
Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1.Ophthalmic Genet. 2017 Dec;38(6):559-561. doi: 10.1080/13816810.2017.1290118. Epub 2017 Mar 2.
|
110 |
Neuropsychological and neuroimaging phenotype induced by a CAMTA1 mutation.Brain Dev. 2014 Sep;36(8):711-5. doi: 10.1016/j.braindev.2013.09.008. Epub 2013 Oct 18.
|
111 |
RNF216 Regulates the Migration of Immortalized GnRH Neurons by Suppressing Beclin1-Mediated Autophagy.Front Endocrinol (Lausanne). 2019 Jan 24;10:12. doi: 10.3389/fendo.2019.00012. eCollection 2019.
|
112 |
Glycosylation of Cblns attenuates their receptor binding.Brain Res. 2018 Sep 1;1694:129-139. doi: 10.1016/j.brainres.2018.05.022. Epub 2018 May 18.
|
113 |
Involvement of H4(D10S170) protein in ATM-dependent response to DNA damage.Oncogene. 2007 Sep 13;26(42):6167-75. doi: 10.1038/sj.onc.1210446. Epub 2007 Apr 9.
|
114 |
A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxia.Neurobiol Dis. 2018 Jul;115:157-166. doi: 10.1016/j.nbd.2018.04.009. Epub 2018 Apr 12.
|
115 |
Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients.Neurobiol Aging. 2014 Dec;35(12):2884.e1-2884.e4. doi: 10.1016/j.neurobiolaging.2014.07.022. Epub 2014 Jul 24.
|
116 |
Deletion of the Chd6 exon 12 affects motor coordination.Mamm Genome. 2010 Apr;21(3-4):130-42. doi: 10.1007/s00335-010-9248-8. Epub 2010 Jan 29.
|
117 |
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.J Neurol. 2015 Jan;262(1):173-8. doi: 10.1007/s00415-014-7553-y. Epub 2014 Oct 31.
|
118 |
Expanding spectrum of contactin-associated protein 2 (CASPR2) autoimmunity-syndrome of parkinsonism and ataxia.Neurol Sci. 2018 Mar;39(3):455-460. doi: 10.1007/s10072-017-3222-0. Epub 2017 Dec 20.
|
119 |
Human mitochondrial cytochrome c oxidase assembly factor COX18 acts transiently as a membrane insertase within the subunit 2 maturation module.J Biol Chem. 2017 May 12;292(19):7774-7783. doi: 10.1074/jbc.M117.778514. Epub 2017 Mar 22.
|
120 |
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.Hum Mutat. 2018 Jan;39(1):69-79. doi: 10.1002/humu.23345. Epub 2017 Nov 8.
|
121 |
Observation of novel COX20 mutations related to autosomal recessive axonal neuropathy and static encephalopathy.Hum Genet. 2019 Jul;138(7):749-756. doi: 10.1007/s00439-019-02026-4. Epub 2019 May 11.
|
122 |
The cerebellum and cognition.Neurosci Lett. 2019 Jan 1;688:62-75. doi: 10.1016/j.neulet.2018.07.005. Epub 2018 Jul 8.
|
123 |
Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID. Eur J Hum Genet. 2017 Jun;25(7):889-893. doi: 10.1038/ejhg.2017.52. Epub 2017 Apr 19.
|
124 |
GOSR2: a progressive myoclonus epilepsy gene.Epileptic Disord. 2016 Sep 1;18(S2):111-114. doi: 10.1684/epd.2016.0848.
|
125 |
Reliability and discriminant validity of ataxia rating scales in early onset ataxia.Dev Med Child Neurol. 2017 Apr;59(4):427-432. doi: 10.1111/dmcn.13291. Epub 2016 Oct 21.
|
126 |
Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia.Am J Med Genet A. 2010 Jan;152A(1):175-80. doi: 10.1002/ajmg.a.33152.
|
127 |
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.
|
128 |
Developmental abnormality contributes to cortex-dependent motor impairments and higher intracortical current requirement in the reeler homozygous mutants.Brain Struct Funct. 2018 Jul;223(6):2575-2587. doi: 10.1007/s00429-018-1647-8. Epub 2018 Mar 13.
|
129 |
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.Brain. 2013 Oct;136(Pt 10):3106-18. doi: 10.1093/brain/awt236. Epub 2013 Sep 11.
|
130 |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.Hum Mutat. 2017 Dec;38(12):1774-1785. doi: 10.1002/humu.23339. Epub 2017 Sep 23.
|
131 |
Lipoamide dehydrogenase: rapid heat inactivation in platelets of patients with recessively inherited ataxia.Neurology. 1981 Feb;31(2):199-202. doi: 10.1212/wnl.31.2.199.
|
132 |
Underappreciated Roles of the Translocase of the Outer and Inner Mitochondrial Membrane Protein Complexes in Human Disease.DNA Cell Biol. 2019 Jan;38(1):23-40. doi: 10.1089/dna.2018.4292. Epub 2018 Nov 27.
|
133 |
Variants in DOCK3 cause developmental delay and hypotonia. Eur J Hum Genet. 2019 Aug;27(8):1225-1234. doi: 10.1038/s41431-019-0397-2. Epub 2019 Apr 11.
|
134 |
Antibody-associated CNS syndromes without signs of inflammation in the elderly.Neurology. 2017 Oct 3;89(14):1471-1475. doi: 10.1212/WNL.0000000000004541. Epub 2017 Sep 6.
|
135 |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.Am J Hum Genet. 2017 Jan 5;100(1):128-137. doi: 10.1016/j.ajhg.2016.11.018. Epub 2016 Dec 22.
|
136 |
Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.Brain. 2009 Aug;132(Pt 8):2161-9. doi: 10.1093/brain/awp171.
|
137 |
Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis.Mol Genet Metab. 2006 May;88(1):7-15. doi: 10.1016/j.ymgme.2005.10.019. Epub 2006 Jan 18.
|
138 |
Clinical and Functional Characterization of a Missense ELF2 Variant in a CANVAS Family.Front Genet. 2018 Mar 23;9:85. doi: 10.3389/fgene.2018.00085. eCollection 2018.
|
139 |
Prevalence and clinicoradiological features of spinocerebellar ataxia type 34 in a Japanese ataxia cohort.Parkinsonism Relat Disord. 2019 Aug;65:238-242. doi: 10.1016/j.parkreldis.2019.05.019. Epub 2019 May 13.
|
140 |
Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations.J Hum Genet. 2018 Apr;63(4):417-423. doi: 10.1038/s10038-017-0408-5. Epub 2018 Feb 5.
|
141 |
Homozygosity mapping and whole exome sequencing reveal a novel ERCC8 mutation in a Chinese consanguineous family with unique cerebellar ataxia.Clin Chim Acta. 2019 Jul;494:64-70. doi: 10.1016/j.cca.2019.03.1609. Epub 2019 Mar 12.
|
142 |
Variation in DNA Repair System Gene as an Additional Modifier of Age at Onset in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease.Neuromolecular Med. 2020 Mar;22(1):133-138. doi: 10.1007/s12017-019-08572-4. Epub 2019 Oct 5.
|
143 |
Endophilin-A Deficiency Induces the Foxo3a-Fbxo32 Network in the Brain and Causes Dysregulation of Autophagy and the Ubiquitin-Proteasome System.Cell Rep. 2016 Oct 18;17(4):1071-1086. doi: 10.1016/j.celrep.2016.09.058. Epub 2016 Oct 6.
|
144 |
FGF9 knockout in GABAergic neurons induces apoptosis and inflammation via the Fas/caspase-3 pathway in the cerebellum of mice.Brain Res Bull. 2020 Jan;154:91-101. doi: 10.1016/j.brainresbull.2019.10.012. Epub 2019 Nov 11.
|
145 |
Assessment of ataxia phenotype in a new mouse model of galactose-1 phosphate uridylyltransferase (GALT) deficiency.J Inherit Metab Dis. 2017 Jan;40(1):131-137. doi: 10.1007/s10545-016-9993-2. Epub 2016 Oct 25.
|
146 |
Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).Biochem Biophys Res Commun. 2015 Sep 11;465(1):35-40. doi: 10.1016/j.bbrc.2015.07.112. Epub 2015 Jul 26.
|
147 |
Prion disease (PrP-A117V) presenting with ataxia instead of dementia.Neurology. 1995 Nov;45(11):2042-50. doi: 10.1212/wnl.45.11.2042.
|
148 |
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia. Brain. 2018 Sep 1;141(9):2592-2604. doi: 10.1093/brain/awy198.
|
149 |
Loss of the golgin GM130 causes Golgi disruption, Purkinje neuron loss, and ataxia in mice.Proc Natl Acad Sci U S A. 2017 Jan 10;114(2):346-351. doi: 10.1073/pnas.1608576114. Epub 2016 Dec 27.
|
150 |
Mechanisms of Neurological Dysfunction in GOSR2 Progressive Myoclonus Epilepsy, a Golgi SNAREopathy.Neuroscience. 2019 Nov 10;420:41-49. doi: 10.1016/j.neuroscience.2019.03.057. Epub 2019 Apr 4.
|
151 |
Neurochondrin Antibody Serum Positivity in Three Cases of Autoimmune Cerebellar Ataxia.Cerebellum. 2019 Dec;18(6):1137-1142. doi: 10.1007/s12311-019-01048-y.
|
152 |
Anti-Homer-3 antibody associated cerebellar ataxia: A rare case report and literature review.J Neuroimmunol. 2019 May 15;330:155-158. doi: 10.1016/j.jneuroim.2019.01.002. Epub 2019 Mar 13.
|
153 |
Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia.J Hum Genet. 2018 Apr;63(4):521-524. doi: 10.1038/s10038-017-0394-7. Epub 2018 Jan 23.
|
154 |
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.
|
155 |
Hereditary causes of disturbed iron homeostasis in the central nervous system.Ann N Y Acad Sci. 2004 Mar;1012:267-81. doi: 10.1196/annals.1306.022.
|
156 |
Familial Danish dementia: co-existence of Danish and Alzheimer amyloid subunits (ADan AND A{beta}) in the absence of compact plaques.J Biol Chem. 2005 Nov 4;280(44):36883-94. doi: 10.1074/jbc.M504038200. Epub 2005 Aug 9.
|
157 |
Motor protein mutations cause a new form of hereditary spastic paraplegia.Neurology. 2014 Jun 3;82(22):2007-16. doi: 10.1212/WNL.0000000000000479. Epub 2014 May 7.
|
158 |
Movement disorders with neuronal antibodies: syndromic approach, genetic parallels and pathophysiology.Brain. 2018 Jan 1;141(1):13-36. doi: 10.1093/brain/awx189.
|
159 |
Restoration of nuclear-import failure caused by triple A syndrome and oxidative stress.Biochem Biophys Res Commun. 2008 Oct 3;374(4):631-4. doi: 10.1016/j.bbrc.2008.07.088. Epub 2008 Jul 26.
|
160 |
Intrinsic mitochondrial DNA repair defects in Ataxia Telangiectasia.DNA Repair (Amst). 2014 Jan;13:22-31. doi: 10.1016/j.dnarep.2013.11.002. Epub 2013 Dec 15.
|
161 |
LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course.Ann Neurol. 2015 Sep;78(3):412-25. doi: 10.1002/ana.24452. Epub 2015 Jul 27.
|
162 |
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. Hum Mol Genet. 2015 Aug 15;24(16):4483-90. doi: 10.1093/hmg/ddv171. Epub 2015 May 7.
|
163 |
Landscape of somatic mutations and clonal evolution in mantle cell lymphoma.Proc Natl Acad Sci U S A. 2013 Nov 5;110(45):18250-5. doi: 10.1073/pnas.1314608110. Epub 2013 Oct 21.
|
164 |
A hormone-dependent feedback-loop controls androgen receptor levels by limiting MID1, a novel translation enhancer and promoter of oncogenic signaling.Mol Cancer. 2014 Jun 9;13:146. doi: 10.1186/1476-4598-13-146.
|
165 |
Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia.J Neurol Sci. 2014 Feb 15;337(1-2):219-23. doi: 10.1016/j.jns.2013.11.032. Epub 2013 Dec 1.
|
166 |
Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy.Eur J Med Genet. 2020 Jan;63(1):103623. doi: 10.1016/j.ejmg.2019.01.013. Epub 2019 Jan 24.
|
167 |
A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene.Clin Genet. 2019 Mar;95(3):415-419. doi: 10.1111/cge.13489. Epub 2019 Jan 8.
|
168 |
The genotypic and phenotypic spectrum of MTO1 deficiency.Mol Genet Metab. 2018 Jan;123(1):28-42. doi: 10.1016/j.ymgme.2017.11.003. Epub 2017 Nov 15.
|
169 |
MTSS1/Src family kinase dysregulation underlies multiple inherited ataxias.Proc Natl Acad Sci U S A. 2018 Dec 26;115(52):E12407-E12416. doi: 10.1073/pnas.1816177115. Epub 2018 Dec 7.
|
170 |
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.Hum Mutat. 2019 Dec;40(12):2430-2443. doi: 10.1002/humu.23885. Epub 2019 Aug 26.
|
171 |
A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.Cerebellum. 2014 Oct;13(5):588-95. doi: 10.1007/s12311-014-0570-7.
|
172 |
Suppression of the yeast elongation factor Spt4 ortholog reduces expanded SCA36 GGCCUG repeat aggregation and cytotoxicity.Brain Res. 2019 May 15;1711:29-40. doi: 10.1016/j.brainres.2018.12.045. Epub 2019 Jan 2.
|
173 |
Correction to: Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia.Cerebellum. 2019 Jun;18(3):433-434. doi: 10.1007/s12311-019-01021-9.
|
174 |
Deep brain stimulation as a mode of treatment of early onset pantothenate kinase-associated neurodegeneration.Eur J Paediatr Neurol. 2009 Jan;13(1):61-4. doi: 10.1016/j.ejpn.2008.01.006. Epub 2008 May 6.
|
175 |
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.J Hum Genet. 2019 Feb;64(2):183-189. doi: 10.1038/s10038-018-0541-9. Epub 2018 Nov 20.
|
176 |
Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing.CNS Neurosci Ther. 2019 Jan;25(1):21-29. doi: 10.1111/cns.12972. Epub 2018 May 13.
|
177 |
Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders.Clin Neurol Neurosurg. 2019 Feb;177:92-96. doi: 10.1016/j.clineuro.2019.01.004. Epub 2019 Jan 7.
|
178 |
Identification of a novel mutation in PLA2G6 gene and phenotypic heterogeneity analysis of PLA2G6-related neurodegeneration.Parkinsonism Relat Disord. 2019 Aug;65:159-164. doi: 10.1016/j.parkreldis.2019.04.002. Epub 2019 Apr 21.
|
179 |
Exclusion of stromelysin-1, stromelysin-2, interstitial collagenase and fibronectin genes as the mutant loci in a family with recessive epidermolysis bullosa dystrophica and a form of cerebellar ataxia.Hum Genet. 1992 Jul;89(5):503-7. doi: 10.1007/BF00219174.
|
180 |
Clinical and genetic characterization of 16q-linked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan.J Hum Genet. 2009 Jul;54(7):377-81. doi: 10.1038/jhg.2009.44. Epub 2009 May 15.
|
181 |
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. Brain. 2015 Jun;138(Pt 6):1505-17. doi: 10.1093/brain/awv057. Epub 2015 Mar 25.
|
182 |
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095.
|
183 |
Identification of FXTAS presenting with SCA 12 like phenotype in India.Parkinsonism Relat Disord. 2014 Oct;20(10):1089-93. doi: 10.1016/j.parkreldis.2014.07.001. Epub 2014 Jul 17.
|
184 |
Sudden unexpected death with rare compound heterozygous variants in PRICKLE1.Neurogenetics. 2019 Mar;20(1):39-43. doi: 10.1007/s10048-018-0562-8. Epub 2018 Dec 18.
|
185 |
Prion-like protein Doppel expression is not modified in scrapie-infected cells and in the brains of patients with Creutzfeldt-Jakob disease.FEBS Lett. 2003 Feb 11;536(1-3):61-5. doi: 10.1016/s0014-5793(03)00012-7.
|
186 |
Odor preference and olfactory memory are impaired in Olfaxin-deficient mice.Brain Res. 2018 Jun 1;1688:81-90. doi: 10.1016/j.brainres.2018.03.025. Epub 2018 Mar 20.
|
187 |
Investigating PUM1 mutations in a Taiwanese cohort with cerebellar ataxia.Parkinsonism Relat Disord. 2019 Sep;66:220-223. doi: 10.1016/j.parkreldis.2019.08.004. Epub 2019 Aug 7.
|
188 |
Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.Nat Genet. 2019 May;51(5):920. doi: 10.1038/s41588-019-0422-y.
|
189 |
ATOH1/RFX1/RFX3 transcription factors facilitate the differentiation and characterisation of inner ear hair cell-like cells from patient-specific induced pluripotent stem cells harbouring A8344G mutation of mitochondrial DNA.Cell Death Dis. 2018 Apr 1;9(4):437. doi: 10.1038/s41419-018-0488-y.
|
190 |
Molecular cloning of the human eosinophil-derived neurotoxin: a member of the ribonuclease gene family.Proc Natl Acad Sci U S A. 1989 Jun;86(12):4460-4. doi: 10.1073/pnas.86.12.4460.
|
191 |
Ubiquitin Ligase RNF138 Promotes Episodic Ataxia Type 2-Associated Aberrant Degradation of Human Ca(v)2.1 (P/Q-Type) Calcium Channels.J Neurosci. 2017 Mar 1;37(9):2485-2503. doi: 10.1523/JNEUROSCI.3070-16.2017. Epub 2017 Feb 6.
|
192 |
RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder.Neurology. 2015 Apr 28;84(17):1760-6. doi: 10.1212/WNL.0000000000001521. Epub 2015 Apr 3.
|
193 |
Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia.Brain. 2010 Aug;133(Pt 8):2439-47. doi: 10.1093/brain/awq181.
|
194 |
Outcomes of Hematopoietic Cell Transplantation in Patients with Germline SAMD9/SAMD9L Mutations.Biol Blood Marrow Transplant. 2019 Nov;25(11):2186-2196. doi: 10.1016/j.bbmt.2019.07.007. Epub 2019 Jul 12.
|
195 |
Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation.Eur J Hum Genet. 2019 Feb;27(2):263-268. doi: 10.1038/s41431-018-0268-2. Epub 2018 Sep 26.
|
196 |
A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery.PLoS Genet. 2012;8(6):e1002759. doi: 10.1371/journal.pgen.1002759. Epub 2012 Jun 14.
|
197 |
Sez6l2 regulates phosphorylation of ADD and neuritogenesis.Biochem Biophys Res Commun. 2017 Dec 9;494(1-2):234-241. doi: 10.1016/j.bbrc.2017.10.047. Epub 2017 Oct 12.
|
198 |
An unexpected role for the yeast nucleotide exchange factor Sil1 as a reductant acting on the molecular chaperone BiP.Elife. 2017 Mar 3;6:e24141. doi: 10.7554/eLife.24141.
|
199 |
Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice.Hum Mol Genet. 2017 Oct 1;26(19):3776-3791. doi: 10.1093/hmg/ddx262.
|
200 |
Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation.Eur J Neurol. 2004 Dec;11(12):817-24. doi: 10.1111/j.1468-1331.2004.00888.x.
|
201 |
Novel Compound Heterozygous Spatacsin Mutations in a Greek Kindred with Hereditary Spastic Paraplegia SPG11 and Dementia.Neurodegener Dis. 2016;16(5-6):373-81. doi: 10.1159/000444715. Epub 2016 Jun 18.
|
202 |
Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family.Neurogenetics. 2020 Jan;21(1):51-58. doi: 10.1007/s10048-019-00595-0. Epub 2019 Nov 19.
|
203 |
Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome.Eur J Paediatr Neurol. 2016 Jul;20(4):661-5. doi: 10.1016/j.ejpn.2016.04.005. Epub 2016 Apr 28.
|
204 |
Recessive ataxias.Handb Clin Neurol. 2018;155:73-89. doi: 10.1016/B978-0-444-64189-2.00005-6.
|
205 |
Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency.Mitochondrion. 2016 Nov;31:84-88. doi: 10.1016/j.mito.2016.10.004. Epub 2016 Oct 15.
|
206 |
Identifying SYNE1 ataxia and extending the mutational spectrum in Korea.Parkinsonism Relat Disord. 2019 Jan;58:74-78. doi: 10.1016/j.parkreldis.2018.08.009. Epub 2018 Aug 13.
|
207 |
Targeted overexpression of human alpha-synuclein in oligodendroglia induces lesions linked to MSA-like progressive autonomic failure.Exp Neurol. 2010 Aug;224(2):459-64. doi: 10.1016/j.expneurol.2010.05.008. Epub 2010 May 21.
|
208 |
Novel TBC1D24 Mutations in a Case of Nonconvulsive Status Epilepticus.Front Neurol. 2018 Jul 31;9:623. doi: 10.3389/fneur.2018.00623. eCollection 2018.
|
209 |
Genetically modified rodent models of SCA17.J Neurosci Res. 2017 Aug;95(8):1540-1547. doi: 10.1002/jnr.23984. Epub 2016 Nov 18.
|
210 |
A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay. Neurogenetics. 2016 Oct;17(4):219-225. doi: 10.1007/s10048-016-0487-z. Epub 2016 Jun 15.
|
211 |
Ataxia and pancytopenia caused by a mutation in TINF2.Hum Genet. 2008 Dec;124(5):507-13. doi: 10.1007/s00439-008-0576-7. Epub 2008 Nov 1.
|
212 |
The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.Parkinsonism Relat Disord. 2019 May;62:215-220. doi: 10.1016/j.parkreldis.2018.11.027. Epub 2018 Nov 29.
|
213 |
Disruption of Tmem30a results in cerebellar ataxia and degeneration of Purkinje cells.Cell Death Dis. 2018 Sep 5;9(9):899. doi: 10.1038/s41419-018-0938-6.
|
214 |
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). J Med Genet. 2009 Oct;46(10):663-70. doi: 10.1136/jmg.2009.066613. Epub 2009 Jun 8.
|
215 |
The coding region of TP53INP2, a gene expressed in the developing nervous system, is not altered in a family with autosomal recessive non-progressive infantile ataxia on chromosome 20q11-q13.Dev Dyn. 2007 Mar;236(3):843-52. doi: 10.1002/dvdy.21064.
|
216 |
TRIO gene segregation in a family with cerebellar ataxia.Neurol Neurochir Pol. 2018 Nov-Dec;52(6):743-749. doi: 10.1016/j.pjnns.2018.09.006. Epub 2018 Sep 22.
|
217 |
Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy.Eur J Hum Genet. 2016 Jan;25(1):153-156. doi: 10.1038/ejhg.2016.124. Epub 2016 Sep 28.
|
218 |
SCA2 family presenting as typical Parkinson's disease: 34 year follow up.Parkinsonism Relat Disord. 2017 Jul;40:69-72. doi: 10.1016/j.parkreldis.2017.04.003. Epub 2017 Apr 12.
|
219 |
Spinocerebellar ataxia type 11 in the Chinese Han population.Neurol Sci. 2010 Feb;31(1):107-9. doi: 10.1007/s10072-009-0129-4. Epub 2009 Sep 19.
|
220 |
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.
|
221 |
A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. Hum Mutat. 2012 Feb;33(2):351-4. doi: 10.1002/humu.21650. Epub 2011 Dec 8.
|
|
|
|
|
|
|