Posts Tagged: Alexis Brice

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Hereditary spastic paraplegias in Sudan by Elsayed et al, Eur J Hum Genet 2016

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.   Elsayed LE et al, European Journal of Human Genetics (7 September 2016) | doi:10.1038/ejhg.2016.108 Abstract Hereditary spastic paraplegias (HSP) are

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Hereditary spastic paraplegias in Sudan by Elsayed et al, Eur J Hum Genet 2016

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.   Elsayed LE et al, European Journal of Human Genetics (7 September 2016) | doi:10.1038/ejhg.2016.108 Abstract Hereditary spastic paraplegias (HSP) are

JAMA

Expanding the spectrum of genes involved in Huntington disease: a combined clinical and genetic approach, by Mariani et al, JAMA Neurol 2016

Expanding the spectrum of genes involved in Huntington disease: a combined clinical and genetic approach. Mariani LL*, Tesson C*, Charles P, Cazeneuve C, Hahn V, Youssov K, Freeman L, Grabli D, Roze E, Noel S, Peuvion JN, Bachoud-Lévi AC, Brice

JAMA

Expanding the spectrum of genes involved in Huntington disease: a combined clinical and genetic approach, by Mariani et al, JAMA Neurol 2016

Expanding the spectrum of genes involved in Huntington disease: a combined clinical and genetic approach. Mariani LL*, Tesson C*, Charles P, Cazeneuve C, Hahn V, Youssov K, Freeman L, Grabli D, Roze E, Noel S, Peuvion JN, Bachoud-Lévi AC, Brice

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DNA repair pathways modulating onset in polyglutamine diseases by Bettencourt et al. Ann Neurol 2016

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases By Bettencourt et al. Annals of Neurology 2016 Abstract Objective: The polyglutamine diseases, including Huntington’s disease (HD) and multiple spinocerebellar ataxias (SCAs), are amongst the commonest hereditary

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DNA repair pathways modulating onset in polyglutamine diseases by Bettencourt et al. Ann Neurol 2016

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases By Bettencourt et al. Annals of Neurology 2016 Abstract Objective: The polyglutamine diseases, including Huntington’s disease (HD) and multiple spinocerebellar ataxias (SCAs), are amongst the commonest hereditary

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Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions, by Denora, Smets 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,  Santorelli

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Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions, by Denora, Smets 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,  Santorelli

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Visite du Président Hubert Bost et de la Doyenne SVT de l’EPHE, Sylvie Demignot, à l’Institut du Cerveau et de la Moelle épinière le 13 octobre 2015

Ce Mardi 13 Octobre, le Président de l’Ecole Pratique des Hautes Etudes – EPHE, Hubert Bost, ainsi que la Doyenne de la section SVT, Sylvie Demignot, ont visité l’Institut du Cerveau et de la Moelle épinière où est implanté le

IMG_2897

Visite du Président Hubert Bost et de la Doyenne SVT de l’EPHE, Sylvie Demignot, à l’Institut du Cerveau et de la Moelle épinière le 13 octobre 2015

Ce Mardi 13 Octobre, le Président de l’Ecole Pratique des Hautes Etudes – EPHE, Hubert Bost, ainsi que la Doyenne de la section SVT, Sylvie Demignot, ont visité l’Institut du Cerveau et de la Moelle épinière où est implanté le

AJHG

A Recurrent Mutation in CACNA1G Alters Cav3.1 Calcium-Channel Conduction in Autosomal Dominant Cerebellar Ataxia, by Coutelier et al, 2015

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,

AJHG

A Recurrent Mutation in CACNA1G Alters Cav3.1 Calcium-Channel Conduction in Autosomal Dominant Cerebellar Ataxia, by Coutelier et al, 2015

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,

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Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 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,

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Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 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,