about
P1889
ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORFShort GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophyMutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosisThe K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosumTransgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in miceThe 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 humansTARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosisThe oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2−q13Hereditary motor and sensory neuropathy with agenesis of the corpus callosum.Randomized study of once-weekly interferon beta-1la therapy in relapsing multiple sclerosis: three-year data from the OWIMS study.Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients.Matrix form for the instrument line shape of Fourier-transform spectrometers yielding a fast integration algorithm to theoretical spectra.Correction of instrument line shape in Fourier transform spectrometry using matrix inversion.Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis.Anti-CNS antibodies in neurological and psychiatric disorders.Mutational analysis of glycyl-tRNA synthetase (GARS) gene in Hirayama disease.Clinical and electrophysiological study in French-Canadian population with Charcot-Marie-tooth disease type 1A associated with 17p11.2 duplication.Oculopharyngeal muscular dystrophy.Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay.Origin of Friedreich's disease in Quebec.Autosomal recessive spastic ataxia of Charlevoix-Saguenay.A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis.Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11.Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy.Diversity of ARSACS mutations in French-Canadians.Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.Early detection of structural abnormalities and cytoplasmic accumulation of TDP-43 in tissue-engineered skins derived from ALS patientsDouble-integrating-sphere system at the National Institute of Standards and Technology in support of measurement standards for the determination of optical properties of tissue-mimicking phantoms.The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15qMutations in FUS cause FALS and SALS in French and French Canadian populationsHereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population.Long-term safety and efficacy of teriflunomide: Nine-year follow-up of the randomized TEMSO study.Intravascular lymphoma with conus medullaris syndrome followed by encephalopathy.Utility of short-latency evoked potentials in the classification of progressive, early onset cerebellar ataxias.Efficacy and tolerability of a 20-mg dose of methylphenidate for the treatment of daytime sleepiness in adult patients with myotonic dystrophy type 1: a 2-center, randomized, double-blind, placebo-controlled, 3-week crossover trial.Nerve conduction studies and electromyography in Friedreich's ataxia.Plasma lipids and lipoproteins in Friedreich's ataxia and familial spastic ataxia--evidence for an abnormal composition of high density lipoproteins.
P50
Q22011182-E5992B04-D2BC-4632-A9A5-8FBC067B09C8Q24308826-B14F5210-6ED7-44A1-AECD-606723B6A75CQ28191581-9BA47DB3-47AA-4AB8-AB22-2EF8A6C8D4AEQ28205749-31C803EE-3AF5-4345-BA04-C9DF6BF7C0F8Q28238845-2C1F3F25-9625-4D67-9D99-1AEABBBF20A2Q28304113-53EE72FE-EFDD-46F7-A418-EC9C01C518A9Q28481587-1783B1E0-FC5F-46DB-A60D-14CBED1B68ABQ29616311-86182440-653B-4534-847F-772D99BE6199Q30047875-88E9F5C8-D17B-4C6B-9B40-5B16E294B1B2Q30808946-BCE55E5F-0B28-4CC7-872A-701956A62ABFQ30983557-0D1271D9-D855-4497-8DDD-491523981175Q31127119-199579FB-C0CA-404C-B95E-66E0AD63AA3BQ33233309-61D3DBBE-1393-4648-9D35-8269F6108F3EQ33249194-00AE6655-9A52-4900-9B9C-0788C74B5837Q33564738-BF426E4C-28BA-45D5-8B3B-477522D06A92Q33629881-476FFE1F-6AB2-4BA8-82F2-9531DB8541D0Q33828930-F7536767-E555-4109-995B-3DE3F3267254Q33845744-D378EA06-8C49-472E-8987-837E3190527EQ33860138-A16FA788-415C-4AFB-971D-A32660708650Q34102599-4BBD163A-0DB0-4E3C-93F7-9BA42CB15615Q34109123-4B2CC01A-DFB4-43B4-8F69-691A14FAF2AAQ34258560-BDC724E3-0992-4368-BDE8-E89723105138Q34261602-C0288DB2-7D90-40C5-B193-2879776540C8Q34342425-4BF0292E-D126-4DDB-A072-059ECA3650E2Q34389112-13259F3B-84FA-4EAE-BE1C-0DF9F3FCB7EBQ34397867-E25BCB5C-A006-4650-8F70-C2BA1B367633Q34515343-82519DAB-7B27-4B68-A93E-84202D127AF7Q34761166-F9898DED-2519-4C8D-B6E4-F53CB01F4402Q35063153-6556B06B-16C9-4FE7-8D70-52B143A98381Q35176790-70BCB72F-9035-4809-9C8A-44C30D4AFEB7Q35822519-86D8A719-DAC4-4189-B681-4FBC2A5EA639Q35882429-2921058F-E4FD-497B-A7E9-2E01B8A3381AQ36292149-96457384-2AE5-4D95-9AFC-B0CCC72961F5Q36493503-B74D9E54-2F59-4CDC-8D29-B2C9DEA2A3DFQ36661742-A3B9A867-4BFF-43AD-8071-02A69E573B53Q37247741-7EEC9541-5C11-425F-82E9-7D74B63BE7B0Q38034786-346F2DAF-B4F3-4EBE-B7B1-6728613C8D98Q38471796-B0BDBFF3-8033-4A31-8BA8-7C4FE53A970EQ39220046-92D0B792-A2AA-487A-9A6B-B865A421A405Q40144809-14284E0B-CB9C-4F72-A958-361C14AC2414
P50
description
Canadees neuroloog
@nl
neurologist
@en
neurologue
@fr
neurólogu canadianu
@ast
name
Jean-Pierre Bouchard
@ast
Jean-Pierre Bouchard
@ca
Jean-Pierre Bouchard
@en
Jean-Pierre Bouchard
@es
Jean-Pierre Bouchard
@fr
Jean-Pierre Bouchard
@ga
Jean-Pierre Bouchard
@nl
Jean-Pierre Bouchard
@sl
Jean-Pierre Bouchard
@sq
type
label
Jean-Pierre Bouchard
@ast
Jean-Pierre Bouchard
@ca
Jean-Pierre Bouchard
@en
Jean-Pierre Bouchard
@es
Jean-Pierre Bouchard
@fr
Jean-Pierre Bouchard
@ga
Jean-Pierre Bouchard
@nl
Jean-Pierre Bouchard
@sl
Jean-Pierre Bouchard
@sq
prefLabel
Jean-Pierre Bouchard
@ast
Jean-Pierre Bouchard
@ca
Jean-Pierre Bouchard
@en
Jean-Pierre Bouchard
@es
Jean-Pierre Bouchard
@fr
Jean-Pierre Bouchard
@ga
Jean-Pierre Bouchard
@nl
Jean-Pierre Bouchard
@sl
Jean-Pierre Bouchard
@sq