Posts Tagged: Giovanni Stevanin

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

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

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

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

A novel nonsense mutation in DNAJC6 expands the phenotype of autosomal recessive juvenile-onset Parkinson disease. Elsayed et al, Ann Neurol 2016

Elsayed LE, Drouet V, Usenko T, Mohammed IN, Hamed AA, Elseed MA, Salih MA, Koko ME, Mohamed AY Siddig RA, Elbashir MI, Ibrahim ME, Durr A, Stevanin G, Lesage S, Ahmed AE, Brice A. A novel nonsense mutation in DNAJC6

A novel nonsense mutation in DNAJC6 expands the phenotype of autosomal recessive juvenile-onset Parkinson disease. Elsayed et al, Ann Neurol 2016

Elsayed LE, Drouet V, Usenko T, Mohammed IN, Hamed AA, Elseed MA, Salih MA, Koko ME, Mohamed AY Siddig RA, Elbashir MI, Ibrahim ME, Durr A, Stevanin G, Lesage S, Ahmed AE, Brice A. A novel nonsense mutation in DNAJC6