Category Archives: publication

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,

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. Durand et al, Hum Mut 2017

Tools developed to help in the diagnosis of spastic paraplegia 56 CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. by Durand CM et al, Human Mut 2018, 39:140-151 (advance online 1st November 2017) Abstract Hereditary Spastic

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. Durand et al, Hum Mut 2017

Tools developed to help in the diagnosis of spastic paraplegia 56 CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. by Durand CM et al, Human Mut 2018, 39:140-151 (advance online 1st November 2017) Abstract Hereditary Spastic

Hereditary spastic paraplegia: More than an upper motor neuron disease, by Parodi et al, Rev Neurol 2017

Hereditary spastic paraplegia: More than an upper motor neuron disease – 17/05/17 Doi : 10.1016/j.neurol.2017.03.034  L. Parodi a, S. Fenu a, b, G. Stevanin a, b, c, A. Durr a, b,  a Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Université, UPMC Univ Paris 06, UMRS_1127, INSERM, U 1127, CNRS, UMR 7225,

Hereditary spastic paraplegia: More than an upper motor neuron disease, by Parodi et al, Rev Neurol 2017

Hereditary spastic paraplegia: More than an upper motor neuron disease – 17/05/17 Doi : 10.1016/j.neurol.2017.03.034  L. Parodi a, S. Fenu a, b, G. Stevanin a, b, c, A. Durr a, b,  a Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Université, UPMC Univ Paris 06, UMRS_1127, INSERM, U 1127, CNRS, UMR 7225,