Category Archives: publication

Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration. Branchu et al, Neurobiol dis 2017

Neurobiology of Disease; Volume 102, June 2017, Pages 21–37 Highlights • Spg11 knockout mouse recapitulates the motor and cognitive symptoms observed in patients. • Spg11 knockout mouse presents neurodegeneration in cortex, cerebellum, hippocampus and spinal cord. • Loss of spatacsin, the

Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration. Branchu et al, Neurobiol dis 2017

Neurobiology of Disease; Volume 102, June 2017, Pages 21–37 Highlights • Spg11 knockout mouse recapitulates the motor and cognitive symptoms observed in patients. • Spg11 knockout mouse presents neurodegeneration in cortex, cerebellum, hippocampus and spinal cord. • Loss of spatacsin, the

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

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

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

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

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

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

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

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

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,

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,

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