Category Archives: publication

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Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation, Lavie et al, Hum Mol Genet

Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation By Lavie J, Serrat R, Bellance N, Courtand G, Dupuy JW, Tesson C, Coupry I, Brice A, Lacombe D, Durr A, Stevanin G, Darios

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Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation, Lavie et al, Hum Mol Genet

Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation By Lavie J, Serrat R, Bellance N, Courtand G, Dupuy JW, Tesson C, Coupry I, Brice A, Lacombe D, Durr A, Stevanin G, Darios

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Hereditary spastic paraplegias in Sudan by Elsayed et al, Eur J Hum Genet 2016

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.   Elsayed LE et al, European Journal of Human Genetics (7 September 2016) | doi:10.1038/ejhg.2016.108 Abstract Hereditary spastic paraplegias (HSP) are

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Hereditary spastic paraplegias in Sudan by Elsayed et al, Eur J Hum Genet 2016

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.   Elsayed LE et al, European Journal of Human Genetics (7 September 2016) | doi:10.1038/ejhg.2016.108 Abstract Hereditary spastic paraplegias (HSP) are

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Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins, by Alves et al, Mol Neurodeg 2016

Alves S, Marais T, Biferi MG, Furling D, Marinello M, El-Hachimi KH, Cartier N, Ruberg M, Stevanin G, Brice A, Barkats M, Sittler A. Mol Neurodeg 2016 (advance on line Jul 28) LINK to the full publication Background We used

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Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins, by Alves et al, Mol Neurodeg 2016

Alves S, Marais T, Biferi MG, Furling D, Marinello M, El-Hachimi KH, Cartier N, Ruberg M, Stevanin G, Brice A, Barkats M, Sittler A. Mol Neurodeg 2016 (advance on line Jul 28) LINK to the full publication Background We used

JAMA

Expanding the spectrum of genes involved in Huntington disease: a combined clinical and genetic approach, by Mariani et al, JAMA Neurol 2016

Expanding the spectrum of genes involved in Huntington disease: a combined clinical and genetic approach. Mariani LL*, Tesson C*, Charles P, Cazeneuve C, Hahn V, Youssov K, Freeman L, Grabli D, Roze E, Noel S, Peuvion JN, Bachoud-Lévi AC, Brice

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Expanding the spectrum of genes involved in Huntington disease: a combined clinical and genetic approach, by Mariani et al, JAMA Neurol 2016

Expanding the spectrum of genes involved in Huntington disease: a combined clinical and genetic approach. Mariani LL*, Tesson C*, Charles P, Cazeneuve C, Hahn V, Youssov K, Freeman L, Grabli D, Roze E, Noel S, Peuvion JN, Bachoud-Lévi AC, Brice

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Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia

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,

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Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia

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,

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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

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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

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Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions, by Denora, Smets 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,  Santorelli

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Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions, by Denora, Smets 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,  Santorelli