Posts Tagged: Ecole Pratique des Hautes Etudes

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia, Cell Rep 2016

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans. Wang Y, Hersheson J, Lopez D, Hammer M, Liu Y, Lee KH, Pinto V, Seinfeld J, Wiethoff S, Sun J, Amouri R,

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia, Cell Rep 2016

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans. Wang Y, Hersheson J, Lopez D, Hammer M, Liu Y, Lee KH, Pinto V, Seinfeld J, Wiethoff S, Sun J, Amouri R,

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions by Denora et al, BRAIN 2016

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions   By Denora PS, Smets K, Zolfanelli F, Ceuterick-de-Groote C, Casali C, Deconinck T, Sieben A, Gonzales M, Zuchner S, Darios F, Peeters D, Brice A, Malandrini A, De Jonghe P,

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions by Denora et al, BRAIN 2016

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions   By Denora PS, Smets K, Zolfanelli F, Ceuterick-de-Groote C, Casali C, Deconinck T, Sieben A, Gonzales M, Zuchner S, Darios F, Peeters D, Brice A, Malandrini A, De Jonghe P,

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia. Coutelier et al, NEUROLOGY 2015

Neurology. 2015 Apr 3. pii: 10.1212/WNL.0000000000001524. [Epub ahead of print] GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia. Coutelier M, Burglen L, Mundwiller E, Abada-Bendib M, Rodriguez D, Chantot-Bastaraud S, Rougeot C, Cournelle MA, Milh M, Toutain A,

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia. Coutelier et al, NEUROLOGY 2015

Neurology. 2015 Apr 3. pii: 10.1212/WNL.0000000000001524. [Epub ahead of print] GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia. Coutelier M, Burglen L, Mundwiller E, Abada-Bendib M, Rodriguez D, Chantot-Bastaraud S, Rougeot C, Cournelle MA, Milh M, Toutain A,

Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion, JNNP 2014

J Neurol Neurosurg Psychiatry. 2014 Dec 4 online Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion. Obayashi M, Stevanin G, Synofzik M, Monin ML, Duyckaerts C, Sato N, Streichenberger

Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion, JNNP 2014

J Neurol Neurosurg Psychiatry. 2014 Dec 4 online Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion. Obayashi M, Stevanin G, Synofzik M, Monin ML, Duyckaerts C, Sato N, Streichenberger

Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1. Orphanet J Rare Dis 2014

Dorboz I*, Coutelier M*, Bertrand AT, Caberg JH, Elmaleh-Bergès M, Lainé J, Stevanin G, Bonne G, Boespflug-Tanguy O and Servais L (*co-first authors). Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1. Orphanet J Rare

Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1. Orphanet J Rare Dis 2014

Dorboz I*, Coutelier M*, Bertrand AT, Caberg JH, Elmaleh-Bergès M, Lainé J, Stevanin G, Bonne G, Boespflug-Tanguy O and Servais L (*co-first authors). Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1. Orphanet J Rare

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Ecole Pratique des Hautes Etudes annual seminars, Paris, April 8

Spastic paraplegias SPG28 and SPG49 as examples of human hereditary diseases at the Ecole Pratique des Hautes Etudes annual seminars, Paris, April 8, by Christelle Tesson. Program-2013

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Ecole Pratique des Hautes Etudes annual seminars, Paris, April 8

Spastic paraplegias SPG28 and SPG49 as examples of human hereditary diseases at the Ecole Pratique des Hautes Etudes annual seminars, Paris, April 8, by Christelle Tesson. Program-2013

Livret Journée Internationale de Sensibilisation sur l’Ataxie

September the 25th : World day for public awareness to ataxia

Livret Journée Internationale de Sensibilisation sur l’Ataxie

September the 25th : World day for public awareness to ataxia