Category Archives: publication

ATXN2 trinucleotide repeat length correlates with risk of ALS. By Sproviero et al. Neurobiol Aging 2017 (advance online Nov 24, 2016)

ATXN2 trinucleotide repeat length correlates with risk of ALS Neurobiol Aging 2017 (advance online Nov 24, 2016) By : Sproviero W, Shatunov A, Stahl D, Shoai M, van Rheenen W, Jones AR, Al-Sarraj S, Andersen PM, Bonini NM, Conforti FL,

ATXN2 trinucleotide repeat length correlates with risk of ALS. By Sproviero et al. Neurobiol Aging 2017 (advance online Nov 24, 2016)

ATXN2 trinucleotide repeat length correlates with risk of ALS Neurobiol Aging 2017 (advance online Nov 24, 2016) By : Sproviero W, Shatunov A, Stahl D, Shoai M, van Rheenen W, Jones AR, Al-Sarraj S, Andersen PM, Bonini NM, Conforti FL,

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,

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

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,

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,

Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation. Dard et al, Dev Med Child Neurol. 2015

Dev Med Child Neurol. 2015 Sep 23. doi: 10.1111/dmcn.12927. [Epub ahead of print] Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation. Dard R, Mignot C, Durr A, Lesca G, Sanlaville D, Roze E, Mochel F ATP1A3, the gene

Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation. Dard et al, Dev Med Child Neurol. 2015

Dev Med Child Neurol. 2015 Sep 23. doi: 10.1111/dmcn.12927. [Epub ahead of print] Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation. Dard R, Mignot C, Durr A, Lesca G, Sanlaville D, Roze E, Mochel F ATP1A3, the gene

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study. By Jacobi et al, Lancet Neurol 2015

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study. Jacobi H, du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R, Parkinson MH, Durr A, Brice A, Charles P, Marelli C, Mariotti

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study. By Jacobi et al, Lancet Neurol 2015

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study. Jacobi H, du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R, Parkinson MH, Durr A, Brice A, Charles P, Marelli C, Mariotti