Posts Tagged: Institut du Cerveau et de la Moelle épinière

A potential therapeutic target for spastic paraplegia 11 / amyotrophic lateral sclerosis 5

Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration By : Maxime Boutry, Julien Branchu, Celine Lustremant, Claire Pujol, Julie Pernelle, Raphael Matusiak, Alexandre Seyer, Marion Poirel, Emeline Chu-Van, Alexandre Pierga, Kostantin Dobrenis, Jean-Philippe Puech, Catherine

A potential therapeutic target for spastic paraplegia 11 / amyotrophic lateral sclerosis 5

Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration By : Maxime Boutry, Julien Branchu, Celine Lustremant, Claire Pujol, Julie Pernelle, Raphael Matusiak, Alexandre Seyer, Marion Poirel, Emeline Chu-Van, Alexandre Pierga, Kostantin Dobrenis, Jean-Philippe Puech, Catherine

ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia By Bouwkamp et al, Neurol Genet 2018

ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia By: Bouwkamp C, Afawi Z, Fattal-Valevski A, Krabbendam I, Rivetti S, Masalha R, Quadri M, Breedveld G, Mandel H, Abu Tailakh M, Beverloo B, Stevanin G, Brice A, Van Ijcken

ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia By Bouwkamp et al, Neurol Genet 2018

ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia By: Bouwkamp C, Afawi Z, Fattal-Valevski A, Krabbendam I, Rivetti S, Masalha R, Quadri M, Breedveld G, Mandel H, Abu Tailakh M, Beverloo B, Stevanin G, Brice A, Van Ijcken

Retinopathy and neurodegeneration with brain iron accumulation due to DDHD1 mutations, by Dard et al, Eur J Med Genet 2017

Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation by Rodolphe Dard, Claire Meyniel, Valérie Touitou, Giovanni Stevanin, Foudil Lamari, Alexandra Durr, Claire Ewenczyk and Fanny Mochel Defects of phospholipids remodelling and synthesis are inborn errors of metabolism responsible for various clinical presentations including spastic paraplegia, retinopathy, optic atrophy, myo- and cardiomyopathies,

Retinopathy and neurodegeneration with brain iron accumulation due to DDHD1 mutations, by Dard et al, Eur J Med Genet 2017

Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation by Rodolphe Dard, Claire Meyniel, Valérie Touitou, Giovanni Stevanin, Foudil Lamari, Alexandra Durr, Claire Ewenczyk and Fanny Mochel Defects of phospholipids remodelling and synthesis are inborn errors of metabolism responsible for various clinical presentations including spastic paraplegia, retinopathy, optic atrophy, myo- and cardiomyopathies,

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

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,

Merry Christmas to all SPATAX members, from the ICM team

Merry Christmas to all SPATAX members from the ICM team

Merry Christmas to all SPATAX members, from the ICM team

Merry Christmas to all SPATAX members from the ICM team

Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1. Orphanet J Rare Dis 2014

Dorboz I*, Coutelier M*, Bertrand AT, Caberg JH, Elmaleh-Bergès M, Lainé J, Stevanin G, Bonne G, Boespflug-Tanguy O and Servais L (*co-first authors). Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1. Orphanet J Rare

Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1. Orphanet J Rare Dis 2014

Dorboz I*, Coutelier M*, Bertrand AT, Caberg JH, Elmaleh-Bergès M, Lainé J, Stevanin G, Bonne G, Boespflug-Tanguy O and Servais L (*co-first authors). Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1. Orphanet J Rare