Posts Tagged: Alexandra Dürr

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

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

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

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

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,

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,

Loss of AP-5 (SPG48) responsible for a new type of lysosomal storage disease by Hirst et al, Hum Mol Genet 2015

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease by Hirst J, Edgar JR, Esteves T, Darios F, Madeo M, Chang J, Roda RH, Dürr A, Anheim M, Gellera C, Li J, Züchner

Loss of AP-5 (SPG48) responsible for a new type of lysosomal storage disease by Hirst et al, Hum Mol Genet 2015

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease by Hirst J, Edgar JR, Esteves T, Darios F, Madeo M, Chang J, Roda RH, Dürr A, Anheim M, Gellera C, Li J, Züchner

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,

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,

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,

The European consortium NEUROMICS had its annual meeting in Palma in March 2015

Neurodegenerative (NDD) and neuromuscular (NMD) diseases are amongst the most frequent of rare diseases, affecting the life and mobility of more than 500,000 patients and families in Europe. The focus of Neuromics is on 10 major disease categories. Some of

The European consortium NEUROMICS had its annual meeting in Palma in March 2015

Neurodegenerative (NDD) and neuromuscular (NMD) diseases are amongst the most frequent of rare diseases, affecting the life and mobility of more than 500,000 patients and families in Europe. The focus of Neuromics is on 10 major disease categories. Some of