SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations
S Millecamps, F Salachas, C Cazeneuve… - Journal of medical …, 2010 - jmg.bmj.com
Background Mutations in SOD1, ANG, VAPB, TARDBP and FUS genes have been identified
in amyotrophic lateral sclerosis (ALS). Methods The relative contributions of the different …
in amyotrophic lateral sclerosis (ALS). Methods The relative contributions of the different …
Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz‐Jampel syndrome
M Stum, CS Davoine, S Vicart, L Guillot‐Noël… - Human …, 2006 - Wiley Online Library
Schwartz‐Jampel syndrome (SJS) is a rare autosomal recessive condition defined by the
association of myotonia with chondrodysplasia. SJS results from mutations in the HSPG2 …
association of myotonia with chondrodysplasia. SJS results from mutations in the HSPG2 …
[HTML][HTML] Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions
JL Méreaux, CS Davoine, D Pellerin, G Coarelli… - …, 2024 - thelancet.com
Background SCA27B caused by FGF14 intronic heterozygous GAA expansions with at least
250 repeats accounts for 10–60% of cases with unresolved cerebellar ataxia. We aimed to …
250 repeats accounts for 10–60% of cases with unresolved cerebellar ataxia. We aimed to …
Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes
JL Méreaux, CS Davoine, M Coutelier… - Journal of Medical …, 2023 - jmg.bmj.com
Usually, molecular diagnosis of spinocerebellar ataxia is based on a step-by-step approach
with targeted sizing of four repeat expansions accounting for most dominant cases, then …
with targeted sizing of four repeat expansions accounting for most dominant cases, then …
Genome-wide significant association with seven novel multiple sclerosis risk loci
Objective A recent large-scale study in multiple sclerosis (MS) using the ImmunoChip
platform reported on 11 loci that showed suggestive genetic association with MS. Additional …
platform reported on 11 loci that showed suggestive genetic association with MS. Additional …
Novel VCP mutations expand the mutational spectrum of frontotemporal dementia
D Saracino, F Clot, A Camuzat, V Anquetil… - Neurobiology of …, 2018 - Elsevier
Valosin-containing protein (VCP) mutations are rare causes of autosomal dominant
frontotemporal dementias associated with Paget's disease of bone, inclusion body …
frontotemporal dementias associated with Paget's disease of bone, inclusion body …
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia
Background Pathogenic variants in SPTAN1 have been linked to a remarkably broad
phenotypical spectrum. Clinical presentations include epileptic syndromes, intellectual …
phenotypical spectrum. Clinical presentations include epileptic syndromes, intellectual …
Multiple Sclerosis Patient Macrophages Impaired Metabolism Leads to an Altered Response to Activation Stimuli
J Fransson, C Bachelin, F Deknuydt, F Ichou… - papers.ssrn.com
In multiple sclerosis (MS), immune cells invade the central nervous system and destroy
myelin. Macrophages contribute to demyelination and myelin repair, and their role in each …
myelin. Macrophages contribute to demyelination and myelin repair, and their role in each …