Posts Tagged: Marie Coutelier

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia Marie Coutelier, Iulia Blesneac, Arnaud Monteil, Marie-Lorraine Monin, Kunie Ando, Emeline Mundwiller, Alfredo Brusco, Isabelle Le Ber, Mathieu Anheim, Anna Castrioto, Charles Duyckaerts, Alexis Brice,

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia Marie Coutelier, Iulia Blesneac, Arnaud Monteil, Marie-Lorraine Monin, Kunie Ando, Emeline Mundwiller, Alfredo Brusco, Isabelle Le Ber, Mathieu Anheim, Anna Castrioto, Charles Duyckaerts, Alexis Brice,

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9, reply by Coutelier et al, Brain 2015

Reply: ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism by Marie Coutelier, Fanny Mochel, Jean-Marie Saudubray, Chris Ottolenghi and Giovanni Stevanin BRAIN 2015

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9, reply by Coutelier et al, Brain 2015

Reply: ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism by Marie Coutelier, Fanny Mochel, Jean-Marie Saudubray, Chris Ottolenghi and Giovanni Stevanin BRAIN 2015

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia by Coutelier et al, BRAIN 2015

Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, Kennerson M, Gaussen M, Schule R, Janin M, Morice-Picard F,

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia by Coutelier et al, BRAIN 2015

Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, Kennerson M, Gaussen M, Schule R, Janin M, Morice-Picard F,

COUTELIER M et al. Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing [REVIEW]. J Neurol 2015

COUTELIER M, STEVANIN G, BRICE A. Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing [REVIEW]. J Neurol 2015 (online April 11) Hereditary cerebellar ataxias (HCAs) are clinically and genetically heterogeneous neurodegenerative disorders, characterised by a cerebellar syndrome

COUTELIER M et al. Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing [REVIEW]. J Neurol 2015

COUTELIER M, STEVANIN G, BRICE A. Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing [REVIEW]. J Neurol 2015 (online April 11) Hereditary cerebellar ataxias (HCAs) are clinically and genetically heterogeneous neurodegenerative disorders, characterised by a cerebellar syndrome

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,

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