Posts Tagged: EPHE

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,

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia, Cell Rep 2016

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans. Wang Y, Hersheson J, Lopez D, Hammer M, Liu Y, Lee KH, Pinto V, Seinfeld J, Wiethoff S, Sun J, Amouri R,

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia, Cell Rep 2016

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans. Wang Y, Hersheson J, Lopez D, Hammer M, Liu Y, Lee KH, Pinto V, Seinfeld J, Wiethoff S, Sun J, Amouri R,

International Meeting on Spastic Paraparesis and Ataxias June 23-25, 2016, Paris

International Meeting on Spastic Paraparesis and Ataxias June 23-25, 2016 hosted by the Institut du Cerveau et de la Moelle épinière, Paris, France Ataxias and spastic paraplegias are opposite ends of a continuum of neurological disorders. The fifth international meeting on

International Meeting on Spastic Paraparesis and Ataxias June 23-25, 2016, Paris

International Meeting on Spastic Paraparesis and Ataxias June 23-25, 2016 hosted by the Institut du Cerveau et de la Moelle épinière, Paris, France Ataxias and spastic paraplegias are opposite ends of a continuum of neurological disorders. The fifth international meeting on

DNA repair pathways modulating onset in polyglutamine diseases by Bettencourt et al. Ann Neurol 2016

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases By Bettencourt et al. Annals of Neurology 2016 Abstract Objective: The polyglutamine diseases, including Huntington’s disease (HD) and multiple spinocerebellar ataxias (SCAs), are amongst the commonest hereditary

DNA repair pathways modulating onset in polyglutamine diseases by Bettencourt et al. Ann Neurol 2016

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases By Bettencourt et al. Annals of Neurology 2016 Abstract Objective: The polyglutamine diseases, including Huntington’s disease (HD) and multiple spinocerebellar ataxias (SCAs), are amongst the commonest hereditary

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions by Denora et al, BRAIN 2016

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions   By Denora PS, Smets K, Zolfanelli F, Ceuterick-de-Groote C, Casali C, Deconinck T, Sieben A, Gonzales M, Zuchner S, Darios F, Peeters D, Brice A, Malandrini A, De Jonghe P,

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions by Denora et al, BRAIN 2016

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions   By Denora PS, Smets K, Zolfanelli F, Ceuterick-de-Groote C, Casali C, Deconinck T, Sieben A, Gonzales M, Zuchner S, Darios F, Peeters D, Brice A, Malandrini A, De Jonghe P,

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia by Coutelier et al, BRAIN 2015

Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, Kennerson M, Gaussen M, Schule R, Janin M, Morice-Picard F,

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia by Coutelier et al, BRAIN 2015

Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, Kennerson M, Gaussen M, Schule R, Janin M, Morice-Picard F,

COUTELIER M et al. Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing [REVIEW]. J Neurol 2015

COUTELIER M, STEVANIN G, BRICE A. Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing [REVIEW]. J Neurol 2015 (online April 11) Hereditary cerebellar ataxias (HCAs) are clinically and genetically heterogeneous neurodegenerative disorders, characterised by a cerebellar syndrome

COUTELIER M et al. Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing [REVIEW]. J Neurol 2015

COUTELIER M, STEVANIN G, BRICE A. Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing [REVIEW]. J Neurol 2015 (online April 11) Hereditary cerebellar ataxias (HCAs) are clinically and genetically heterogeneous neurodegenerative disorders, characterised by a cerebellar syndrome