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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,

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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,

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SIGN THE PETITION FOR RARE DISEASES

Help us to increase support for rare diseases research and save millions of people   A disease is considered rare when it affects few people. Despite the rarity of each rare disease taken individually, together they may affect up to

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SIGN THE PETITION FOR RARE DISEASES

Help us to increase support for rare diseases research and save millions of people   A disease is considered rare when it affects few people. Despite the rarity of each rare disease taken individually, together they may affect up to

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International Congress on Research of Rare and Orphan Diseases, 9-12 March Barcelona

The third edition of the RE(ACT) Congress -– International Congress on Research of Rare and Orphan Diseases, organized by the BLACKSWAN Foundation (http://www.blackswanfoundation.ch/en/) in collaboration with E-Rare (http://www.erare.eu/) has been held at the Crowne Plaza in Barcelona, from 9th to

react-congress-2016_25213736934_o

International Congress on Research of Rare and Orphan Diseases, 9-12 March Barcelona

The third edition of the RE(ACT) Congress -– International Congress on Research of Rare and Orphan Diseases, organized by the BLACKSWAN Foundation (http://www.blackswanfoundation.ch/en/) in collaboration with E-Rare (http://www.erare.eu/) has been held at the Crowne Plaza in Barcelona, from 9th to

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HAPPY NEW YEAR 2016 FOR ALL SPATAX MEMBERS

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IMG_2422b

HAPPY NEW YEAR 2016 FOR ALL SPATAX MEMBERS

Happy New Year 2016 From the ICM* Team (*ICM: Institut du Cerveau et de la Moelle épinière, Paris)    

AJHG

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

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AJHG

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

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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

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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

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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

lancet

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