about
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophyIdentification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic IsolatesA "Fille du Roy" introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians.Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-SaguenayStructural Basis of Defects in the Sacsin HEPN Domain Responsible for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophyTransgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in miceMutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosaOculopharyngeal muscular dystrophy: a polyalanine myopathyThe oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humansHigh-Throughput Screening for Ligands of the HEPN Domain of SacsinThe oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2−q13Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutationRecessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.Oculopharyngeal muscular dystrophy.Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation.A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura.Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy.Diversity of ARSACS mutations in French-Canadians.Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.Oculopharyngeal muscular dystrophy: What's new?Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.Joubert Syndrome in French Canadians and Identification of Mutations in CEP104Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population.Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.Carriers of recessive WNK1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 (HSAN2) are more sensitive to thermal stimuli.Vanishing white matter disease in French-Canadian patients from Quebec.Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin.Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster?Ataxia-oculomotor apraxia 2 patients show no increased sensitivity to ionizing radiation.The dynamism of PABPN1 nuclear inclusions during the cell cycle.PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusions.
P50
Q24308826-edc80f11-49a4-d2c3-bd21-6f93ed64fdf2Q24323217-275DFC57-83E4-4971-95E0-612D0A2FFCC6Q24531271-FAFD6401-1B7F-41C7-835E-F4CA870C4526Q27301278-16E55C42-4412-4B2D-9888-EFAC04FFF30FQ27667500-81594D69-92D6-40BE-90E2-5AB572965D59Q28204171-5C002D56-A05E-4108-B064-48C9E27CF42BQ28238845-1643EFE2-84F2-4A0C-86E5-4C01F611D39EQ28298106-C91C4C02-8C71-485D-BE52-D6DAA3850A8BQ28303935-944343B5-B9B1-4984-AE09-BF3C82A49BB3Q28304113-A4D66AA5-93C5-431C-AE91-B2F62162E82FQ28481587-C9226002-BC78-4628-99CA-E0279E1A9E3FQ28547923-F8DD785C-4494-40FD-8B85-B7C9788AD223Q30047875-836C9057-0A54-492F-9846-3C6D893F569EQ33564675-12627156-BE47-41B6-B7EC-3A844E3A8745Q33645910-63FF8CB9-4B50-46AE-B497-621BFCC34086Q33860138-34DF3ADD-E015-4305-886F-DA93EF439947Q34102599-248D709A-3BD0-4331-A122-86AEE85BAE83Q34133006-A8FA9F68-C58C-45FD-B5BB-014669A6B718Q34140189-9BD38B03-E0B8-4C74-B07E-825EA3F981E1Q34397867-29E2CF89-A68E-4E3B-8333-901596A558B2Q34515343-AF38A838-2182-4B69-AC4A-00A84D006214Q34591305-944D2F78-8D7C-4FC7-BE6B-56B711D2ED11Q34668088-0779DC55-4EC5-4A48-9335-B9B93B7571BAQ34761166-7A993919-154D-4784-A4FF-3B34DC5D704FQ35161567-12CA4C35-4928-431E-BBAE-EEAFE9211706Q35204958-24237196-7B38-4730-A4FE-5C63865DDE4CQ35542161-04B17163-4BFB-4F87-8FFB-DACF9C834704Q35749838-96968890-CE08-4064-B01C-EC484E8885E2Q35863467-424CE027-A49C-4D24-8E90-CBCB7B455121Q35974498-4C980972-121F-49E7-BFF4-D835CB45A05CQ36339758-AF068FFF-EE29-451C-854F-2E6D403D1850Q36493503-F4D5ECBF-4EB9-4DBF-A3C4-F731878B1FFCQ37316405-3B60A820-3630-4858-9CD1-D31A07300F24Q37359203-B6EF5C10-C63D-44AE-B9FD-76EBB9316FB8Q38235618-74B0EFF0-EAB5-4BBA-88A8-80196ED9E867Q38768926-B1DDBF42-7D79-4181-84B9-6B8030F63DB2Q39267179-A6065FB2-951D-4E36-A1A6-C9294576A640Q40089398-C8F98EEF-104C-4B9E-B389-E2FDD283393FQ40252477-663AEB59-3686-4448-8CF3-70B2F3E263B4Q40449021-645C38EF-28F8-4369-B564-B86BBFC2D4C4
P50
description
Canadees neuroloog
@nl
dochtúir
@ga
kanadischer Medizinhistoriker, Genetiker und Neurologe
@de
médecin
@fr
physician
@en
name
Bernard Brais
@ast
Bernard Brais
@ca
Bernard Brais
@de
Bernard Brais
@en
Bernard Brais
@es
Bernard Brais
@fr
Bernard Brais
@ga
Bernard Brais
@nl
Bernard Brais
@sl
Bernard Brais
@sq
type
label
Bernard Brais
@ast
Bernard Brais
@ca
Bernard Brais
@de
Bernard Brais
@en
Bernard Brais
@es
Bernard Brais
@fr
Bernard Brais
@ga
Bernard Brais
@nl
Bernard Brais
@sl
Bernard Brais
@sq
prefLabel
Bernard Brais
@ast
Bernard Brais
@ca
Bernard Brais
@de
Bernard Brais
@en
Bernard Brais
@es
Bernard Brais
@fr
Bernard Brais
@ga
Bernard Brais
@nl
Bernard Brais
@sl
Bernard Brais
@sq
P106
P19
P21
P2381
P27
P31
P496
0000-0003-1394-3561
P569
1961-01-01T00:00:00Z