Category Archives: publication

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,

Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype. Teyssou et al, Neurobiol Ag 2017

Abstract: Mutations in UBQLN2 have been associated with rare cases of X-linked juvenile and adult forms of amyotrophic lateral sclerosis (ALS) and ALS linked to frontotemporal dementia (FTD). Here, we report 1 known (c.1489C>T, p.Pro497Ser, P497S) and 3 novel (c.1481C>T,

Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype. Teyssou et al, Neurobiol Ag 2017

Abstract: Mutations in UBQLN2 have been associated with rare cases of X-linked juvenile and adult forms of amyotrophic lateral sclerosis (ALS) and ALS linked to frontotemporal dementia (FTD). Here, we report 1 known (c.1489C>T, p.Pro497Ser, P497S) and 3 novel (c.1481C>T,

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias, by Morais et al, Eur J Hum Genet 2017

Abstract: Hereditary spastic paraplegias (HSP) are neurodegenerative disorders characterized by lower limb spasticity and weakness that can be complicated by other neurological or non-neurological signs. Despite a high genetic heterogeneity (>60 causative genes), 40-70% of the families remain without a

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias, by Morais et al, Eur J Hum Genet 2017

Abstract: Hereditary spastic paraplegias (HSP) are neurodegenerative disorders characterized by lower limb spasticity and weakness that can be complicated by other neurological or non-neurological signs. Despite a high genetic heterogeneity (>60 causative genes), 40-70% of the families remain without a