Category Archives: publication

More benign phenotype of LRRK2 G2019S Parkinson’ disease carrier than idiopathic by Ben Romdhan et al, Acta Neurol Scanda 2018

LRRK2 G2019S Parkinson’s disease with more benign phenotype than idiopathic. By Ben Romdhan S, Farhat N, Nasri A, Lesage S, Hdiji O, Ben Djebara M, Landoulsi Z, Stevanin G, Brice A, Damak M, Gouider R, Mhiri C. Acta Neurologica Scandinavica

More benign phenotype of LRRK2 G2019S Parkinson’ disease carrier than idiopathic by Ben Romdhan et al, Acta Neurol Scanda 2018

LRRK2 G2019S Parkinson’s disease with more benign phenotype than idiopathic. By Ben Romdhan S, Farhat N, Nasri A, Lesage S, Hdiji O, Ben Djebara M, Landoulsi Z, Stevanin G, Brice A, Damak M, Gouider R, Mhiri C. Acta Neurologica Scandinavica

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

Altered dendritic spine compartmentalization in Alzheimer’s disease by Androuin et al, Acta Neuropathol 2018

Evidence for altered dendritic spine compartmentalization in Alzheimer’s disease and functional effects in a mouse model. by: Androuin A, Potier B, Näger UV, Cattaert D, Danglot L, Thierry M, Youssef I, Triller A, Duyckaerts C, El Hachimi KH, Dutar P,

Altered dendritic spine compartmentalization in Alzheimer’s disease by Androuin et al, Acta Neuropathol 2018

Evidence for altered dendritic spine compartmentalization in Alzheimer’s disease and functional effects in a mouse model. by: Androuin A, Potier B, Näger UV, Cattaert D, Danglot L, Thierry M, Youssef I, Triller A, Duyckaerts C, El Hachimi KH, Dutar P,

Transcriptional Dysregulation in Postnatal Glutamatergic Progenitors Contributes to Closure of the Cortical Neurogenic Period

Transcriptional Dysregulation in Postnatal Glutamatergic Progenitors Contributes to Closure of the Cortical Neurogenic Period by Donega V, Marcy G*, Lo Giudice Q, Zweifel S, Angonin D, Fiorelli R, Abrous DN, Rival-Gervier S, Koehl M, Jabaudon D, Raineteau O Cell Reports 2018 Mar 6;22(10):2567-2574 *EPHE Neurogenetics team Progenitors of cortical glutamatergic neurons (Glu progenitors)

Transcriptional Dysregulation in Postnatal Glutamatergic Progenitors Contributes to Closure of the Cortical Neurogenic Period

Transcriptional Dysregulation in Postnatal Glutamatergic Progenitors Contributes to Closure of the Cortical Neurogenic Period by Donega V, Marcy G*, Lo Giudice Q, Zweifel S, Angonin D, Fiorelli R, Abrous DN, Rival-Gervier S, Koehl M, Jabaudon D, Raineteau O Cell Reports 2018 Mar 6;22(10):2567-2574 *EPHE Neurogenetics team Progenitors of cortical glutamatergic neurons (Glu progenitors)

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,