Posts Tagged: Ecole Pratique des Hautes Etudes

Tools developed to help in the diagnosis of spastic paraplegia 56, by Durand et al Human Mutation 2017

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. Durand CM, Dhers L, Tesson C, Tessa A, Fouillen L, Jacqueré S, Raymond L, Coupry I, Benard G, Darios F, El-Hachimi KH, Astrea G, Rivier F, Banneau G,

Tools developed to help in the diagnosis of spastic paraplegia 56, by Durand et al Human Mutation 2017

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. Durand CM, Dhers L, Tesson C, Tessa A, Fouillen L, Jacqueré S, Raymond L, Coupry I, Benard G, Darios F, El-Hachimi KH, Astrea G, Rivier F, Banneau G,

Soutenance de Diplôme EPHE d’Alexandra Garcia le 11/10/2017 sur les cibles des lymphocytes T dans la sclérose en plaques

Bravo à Alexandra Garcia pour la soutenance de son mémoire de diplôme EPHE (PSL Research University) intitulé “Caractérisation des TCR et de la cible antigénique de lymphocytes T CD8+ impliqués dans la sclérose en plaques” le 11 octobre 2017 à Paris devant

Soutenance de Diplôme EPHE d’Alexandra Garcia le 11/10/2017 sur les cibles des lymphocytes T dans la sclérose en plaques

Bravo à Alexandra Garcia pour la soutenance de son mémoire de diplôme EPHE (PSL Research University) intitulé “Caractérisation des TCR et de la cible antigénique de lymphocytes T CD8+ impliqués dans la sclérose en plaques” le 11 octobre 2017 à Paris devant

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

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

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

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,