Posts Tagged: Giovanni Stevanin

Phenotypic heterogeneity in DARS2-related leukoencephalopathy

Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report by Ashraf Yahia et al, BMC Neurol 2018 Background Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL, OMIM

Phenotypic heterogeneity in DARS2-related leukoencephalopathy

Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report by Ashraf Yahia et al, BMC Neurol 2018 Background Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL, OMIM

Une cible thérapeutique potentielle pour la paraplégie spastique SPG11 ou sclérose latérale amyotrophique 5 visant les gangliosides

La paraplégie spastique héréditaire de type 11 et ses pathologiques alléliques comme la sclérose latérale amyotrophique juvénile de type 5 ou certains cas de neuropathie de Charcot-Marie-Tooth, sont des maladies génétiques rares touchant les motoneurones, neurones responsables de la transmission

Une cible thérapeutique potentielle pour la paraplégie spastique SPG11 ou sclérose latérale amyotrophique 5 visant les gangliosides

La paraplégie spastique héréditaire de type 11 et ses pathologiques alléliques comme la sclérose latérale amyotrophique juvénile de type 5 ou certains cas de neuropathie de Charcot-Marie-Tooth, sont des maladies génétiques rares touchant les motoneurones, neurones responsables de la transmission

A novel homozygous splice site mutation in PLA2G6 gene causing Infantile Neuroaxonal dystrophy, by Elsayed et al, BMC Med Genet 2018

Case report of a novel homozygous splice site mutation in PLA2G6 gene causing Infantile Neuroaxonal dystrophy in a Sudanese family. By: Elsayed L, Mohammed I, Hamed A, Elseed M, Salih M, Mohamed A, Siddig R, Amin M, Koko M, Elbashir

A novel homozygous splice site mutation in PLA2G6 gene causing Infantile Neuroaxonal dystrophy, by Elsayed et al, BMC Med Genet 2018

Case report of a novel homozygous splice site mutation in PLA2G6 gene causing Infantile Neuroaxonal dystrophy in a Sudanese family. By: Elsayed L, Mohammed I, Hamed A, Elseed M, Salih M, Mohamed A, Siddig R, Amin M, Koko M, Elbashir

Diagnosis improvement for spinocerebellar ataxias due to CAG repeat expansions

SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1–3, 6, and 7 by PCR and Capillary Electrophoresis by Cagnoli C, Brussino A, Mancini C, Ferrone M, Orsi L, Salmin P, Pappi P, Giorgio E, Pozzi E, Cavalieri S,

Diagnosis improvement for spinocerebellar ataxias due to CAG repeat expansions

SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1–3, 6, and 7 by PCR and Capillary Electrophoresis by Cagnoli C, Brussino A, Mancini C, Ferrone M, Orsi L, Salmin P, Pappi P, Giorgio E, Pozzi E, Cavalieri S,

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