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,

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,