Posts Tagged: Ataxie spinocérébelleuse

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,

JOURNÉE INTERNATIONALE DE SENSIBILISATION À L’ATAXIE – 25 septembre 2015

Le 25 septembre 2015 est l’occasion de faire connaitre au grand public les ataxies cérébelleuses, un groupe de maladies neurologiques rares mais très invalidantes. COMPRENDRE CE QU’EST L’ATAXIE CÉRÉBELLEUSE L’ataxie (étymologiquement absence d’ordre) est un symptôme clinique se traduit par

JOURNÉE INTERNATIONALE DE SENSIBILISATION À L’ATAXIE – 25 septembre 2015

Le 25 septembre 2015 est l’occasion de faire connaitre au grand public les ataxies cérébelleuses, un groupe de maladies neurologiques rares mais très invalidantes. COMPRENDRE CE QU’EST L’ATAXIE CÉRÉBELLEUSE L’ataxie (étymologiquement absence d’ordre) est un symptôme clinique se traduit par

Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing, by Coutelier et al, 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

Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing, by Coutelier et al, 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,

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

Survival and severity in dominant cerebellar ataxias. Monin et al, Ann Clin Trans Neurol 2015.

Monin ML, Tezenas du Montcel S, Marelli C, Cazeneuve C, Charles P, Tallaksen C, Forlani S, Stevanin G, Brice A, Durr A. Survival and severity in dominant cerebellar ataxias. Ann Clin Trans Neurol 2015 (advance online publication January 7). http://onlinelibrary.wiley.com/doi/10.1002/acn3.156/abstract

Survival and severity in dominant cerebellar ataxias. Monin et al, Ann Clin Trans Neurol 2015.

Monin ML, Tezenas du Montcel S, Marelli C, Cazeneuve C, Charles P, Tallaksen C, Forlani S, Stevanin G, Brice A, Durr A. Survival and severity in dominant cerebellar ataxias. Ann Clin Trans Neurol 2015 (advance online publication January 7). http://onlinelibrary.wiley.com/doi/10.1002/acn3.156/abstract

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