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

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia by Newton et al, Brain 2018

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia By: Newton T, Allison R, Edgar JR, Lumb JH, Roger CE, Manna PT, Rizo T, Kohl Z, Nygren AOH, Arning L, Schule R, Depienne C, Goldberg

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia by Newton et al, Brain 2018

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia By: Newton T, Allison R, Edgar JR, Lumb JH, Roger CE, Manna PT, Rizo T, Kohl Z, Nygren AOH, Arning L, Schule R, Depienne C, Goldberg

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes by Coutelier et al, JAMA Neurol 2018

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes By: Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A,

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes by Coutelier et al, JAMA Neurol 2018

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes By: Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A,

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

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function   by Mendoza Ferreira N, Coutelier M, Janzen E, Hosseinibarkooie S, Lohr H, Schneider S, Milbradt J, Karakaya M, Riessland M, Pichlo C, Torres-Benito L, Singleton A, Zuchner

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function   by Mendoza Ferreira N, Coutelier M, Janzen E, Hosseinibarkooie S, Lohr H, Schneider S, Milbradt J, Karakaya M, Riessland M, Pichlo C, Torres-Benito L, Singleton A, Zuchner

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED by : Trimouille A, Obre E, Banneau G, Durr A, Stevanin G, Clot F, Pennamen P, Perez JT, Bailly-Scappaticci C, Rouanet M, Delleci C, Sole G, Mathis S, Goizet C.

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED by : Trimouille A, Obre E, Banneau G, Durr A, Stevanin G, Clot F, Pennamen P, Perez JT, Bailly-Scappaticci C, Rouanet M, Delleci C, Sole G, Mathis S, Goizet C.

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5, by Marelli et al, Brain 2017

Marelli C, Lamari F, Rainteau D, Lafourcade A, Banneau G, Humbert L, Monin ML, Petit E, Debs R, Castelnovo G, Ollagnon E, Lavie J, Pilliod J, Coupry I, Babin PJ, Guissart C, Benyounes I, Ullmann U, Lesca G, Thauvin-Robinet C,

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5, by Marelli et al, Brain 2017

Marelli C, Lamari F, Rainteau D, Lafourcade A, Banneau G, Humbert L, Monin ML, Petit E, Debs R, Castelnovo G, Ollagnon E, Lavie J, Pilliod J, Coupry I, Babin PJ, Guissart C, Benyounes I, Ullmann U, Lesca G, Thauvin-Robinet C,