Category Archives: publication

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 Christelle M. Durand et al, Human Mut 2017 Abstract Hereditary Spastic Paraplegia (HSP) is an inherited

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 Christelle M. Durand et al, Human Mut 2017 Abstract Hereditary Spastic Paraplegia (HSP) is an inherited

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,

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families. By Hammer et al, Neurodeg dis 2017

Abstract BACKGROUND: Autosomal recessive cerebellar ataxias (ARCA) are a complex group of neurodegenerative disorders with high clinical and genetic heterogeneity. In most cases, the cerebellar ataxia is not pure, and complicating clinical features such as pyramidal signs or extraneurological features

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families. By Hammer et al, Neurodeg dis 2017

Abstract BACKGROUND: Autosomal recessive cerebellar ataxias (ARCA) are a complex group of neurodegenerative disorders with high clinical and genetic heterogeneity. In most cases, the cerebellar ataxia is not pure, and complicating clinical features such as pyramidal signs or extraneurological features

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias, by Morais et al, Eur J Hum Genet 2017

Abstract: Hereditary spastic paraplegias (HSP) are neurodegenerative disorders characterized by lower limb spasticity and weakness that can be complicated by other neurological or non-neurological signs. Despite a high genetic heterogeneity (>60 causative genes), 40-70% of the families remain without a

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias, by Morais et al, Eur J Hum Genet 2017

Abstract: Hereditary spastic paraplegias (HSP) are neurodegenerative disorders characterized by lower limb spasticity and weakness that can be complicated by other neurological or non-neurological signs. Despite a high genetic heterogeneity (>60 causative genes), 40-70% of the families remain without a

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies by Coutelier et al, Brain 2017

Coutelier et al, BRAIN 2017 Autosomal dominant cerebellar ataxias have a marked heterogeneous genetic background, with mutations in 34 genes identified so far. This large amount of implicated genes accounts for heterogeneous clinical presentations, making genotype-phenotype correlations a major challenge

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies by Coutelier et al, Brain 2017

Coutelier et al, BRAIN 2017 Autosomal dominant cerebellar ataxias have a marked heterogeneous genetic background, with mutations in 34 genes identified so far. This large amount of implicated genes accounts for heterogeneous clinical presentations, making genotype-phenotype correlations a major challenge