L. Guillot-nöel

发表

Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz‐Jampel syndrome

H. Kayserili, B. Fontaine, C. Davoine, 2006, Human mutation.

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia

S. Klebe, S. Züchner, A. Durr, 2022, Movement disorders : official journal of the Movement Disorder Society.

Dysregulated functional and metabolic response in multiple sclerosis patient macrophages correlate with a more inflammatory state, reminiscent of trained immunity

A. Tenenhaus, C. Louapre, F. Mochel, 2021, bioRxiv.

SOD 1 , ANG , VAPB , TARDBP , and FUS mutations in familial Amyotrophic Lateral Sclerosis : genotype-phenotype correlations

V. Meininger, F. Salachas, D. Hannequin, 2017 .

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations

V. Meininger, F. Salachas, D. Hannequin, 2010, Journal of Medical Genetics.

MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis.

M. Ban, S. Sawcer, A. Compston, 2013, Brain : a journal of neurology.

Novel VCP mutations expand the mutational spectrum of frontotemporal dementia

D. Hannequin, M. Didic, S. Forlani, 2018, Neurobiology of Aging.

FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis.

B. Dubois, V. Meininger, F. Salachas, 2010, Journal of Alzheimer's disease : JAD.

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25

P. Lockhart, A. Durr, E. Storey, 2022, Annals of neurology.

Genome-wide significant association with seven novel multiple sclerosis risk loci

A. Alcina, F. Matesanz, X. Montalban, 2015, Journal of Medical Genetics.

Adaptive human immunity drives remyelination in a mouse model of demyelination

H. Abdi, V. Guillemot, B. Stankoff, 2017, Brain : a journal of neurology.

Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes

S. Klebe, A. Durr, A. Brice, 2023, Journal of Medical Genetics.