presentation111

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

presentation111

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

programme-journee-scientifique-svt-2016_page_1

JOURNÉE SCIENTIFIQUE DE LA SECTION DES SCIENCES DE LA VIE ET DE LA TERRE de l’EPHE, 16 Novembre 2016

Ecole Pratique des Hautes Etudes Journée scientifique de la section des sciences de la vie et de la terre mercredi 16 Novembre 2016 Lieu: Amphithéatre de l’Institut du Cerveau et de la Moelle épinière Groupe Hospitalier Pitié-Salpêtrière 47 boulevard de l’Hôpital – 75013

programme-journee-scientifique-svt-2016_page_1

JOURNÉE SCIENTIFIQUE DE LA SECTION DES SCIENCES DE LA VIE ET DE LA TERRE de l’EPHE, 16 Novembre 2016

Ecole Pratique des Hautes Etudes Journée scientifique de la section des sciences de la vie et de la terre mercredi 16 Novembre 2016 Lieu: Amphithéatre de l’Institut du Cerveau et de la Moelle épinière Groupe Hospitalier Pitié-Salpêtrière 47 boulevard de l’Hôpital – 75013

figure_2_rev2

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

figure_2_rev2

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

v3

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

v3

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

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

fx1

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,

fx1

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,