Vincent Meininger

The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations

Antonio Canosa, Andrea Calvo, Gabriele Mora, Cristina Moglia et autres

Background: Data from published studies about the effect of HFE polymorphisms on ALS risk, phenotype, and survival are still inconclusive. We aimed at evaluating whether the p.H63D polymorphism is a modifier of phenotype and survival in SOD1-mutated patients. Methods: We included 183 …

it, fr (code pays fourni par la source)

Comparison between PFN1 and SOD1 mutations in amyotrophic lateral sclerosis

Philippe Corcia, Pascal Lejeune, Patrick Vourc’h, S. Beltran et autres

BACKGROUND: The objective of this study was to characterize the prototypical phenotype of patients with amyotrophic lateral sclerosis (ALS) associated with PFN1 mutations in profilin 1 (PFN1) and to determine clinical indications to test for mutations in this gene. MATERIAL AND METHODS: …

fr (code pays fourni par la source)

The Amyotrophic Lateral Sclerosis M114T PFN1 Mutation Deregulates Alternative Autophagy Pathways and Mitochondrial Homeostasis

Elisa Teyssou, Laura Chartier, Delphine Roussel, Nirma D. Perera et autres

Mutations in profilin 1 (PFN1) have been identified in rare familial cases of Amyotrophic Lateral Sclerosis (ALS). PFN1 is involved in multiple pathways that could intervene in ALS pathology. However, the specific pathogenic role of PFN1 mutations in ALS is still not …

fr, au, gb (code pays fourni par la source)

Muscle cells of sporadic amyotrophic lateral sclerosis patients secrete neurotoxic vesicles

Laura Le Gall, William Duddy, Cécile Martinat, Virginie Mariot et autres

BACKGROUND: The cause of the motor neuron (MN) death that drives terminal pathology in amyotrophic lateral sclerosis (ALS) remains unknown, and it is thought that the cellular environment of the MN may play a key role in MN survival. Several lines of …

fr, gb, us, ie (code pays fourni par la source)

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Wouter van Rheenen, Rick A. A. van der Spek, Mark K. Bakker, Joke J.F.A. van Vugt et autres

In the version of this article initially published, the affiliation for Nazli Başak appeared incorrectly. Nazli Başak is at Koç University, School of Medicine, KUTTAM-NDAL, Istanbul, Turkey, and not Bogazici University. The error has been corrected in the HTML and PDF versions …

nl, gb, be, us, au, ie, it, pt, de, tr, il, se, fr, es, ca (code pays fourni par la source)

Neurofilament light and heterogeneity of disease progression in amyotrophic lateral sclerosis: development and validation of a prediction model to improve interventional trials

Simon Witzel, Felix Frauhammer, Petra Steinacker, David Devos et autres

BACKGROUND: Interventional trials in amyotrophic lateral sclerosis (ALS) suffer from the heterogeneity of the disease as it considerably reduces statistical power. We asked if blood neurofilament light chains (NfL) could be used to anticipate disease progression and increase trial power. METHODS: In …

de, fr (code pays fourni par la source)

Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities

François Muratet, Elisa Teyssou, Aude Chiot, Séverine Boillée et autres

Objective Mutations in superoxide dismutase 1 gene (SOD1), encoding copper/zinc superoxide dismutase protein, are the second most frequent high penetrant genetic cause for amyotrophic lateral sclerosis (ALS) motor neuron disease in populations of European descent. More than 200 missense variants are reported …

fr, ch, gb, Maroc (code pays fourni par la source)

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Wouter van Rheenen, Rick A. A. van der Spek, Mark K. Bakker, Joke J.F.A. van Vugt et autres

Abstract Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a life-time risk of 1 in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry GWAS in ALS including 29,612 ALS patients and 122,656 controls which identified …

nl, gb, be, us, au, ie, it, pt, de, tr, il, se, fr, es, ca (code pays fourni par la source)

Muscle cells of sporadic ALS patients secrete neurotoxic vesicles

Laura Le Gall, William Duddy, Cécile Martinat, Virginie Mariot et autres

Abstract Background The cause of the motor neuron (MN) death that drives terminal pathology in Amyotrophic Lateral Sclerosis (ALS) remains unknown, and it is thought that the cellular environment of the MN may play a key role in MN survival. Several lines …

fr, gb, us, ie (code pays fourni par la source)

Effect of familial clustering in the genetic screening of 235 French ALS families

Philippe Corcia, William Camu, Céline Brulard, Sylviane Marouillat et autres

Objectives To determine whether the familial clustering of amyotrophic lateral sclerosis (ALS) cases and the phenotype of the disease may help identify the pathogenic genes involved. Methods We conducted a targeted next-generation sequencing analysis on 235 French familial ALS (FALS), unrelated probands …

us, fr (code pays fourni par la source)

Use of a modular ontology and a semantic annotation tool to describe the care pathway of patients with amyotrophic lateral sclerosis in a coordination network

Sonia Cardoso, Pierre Meneton, Xavier Aimé, Vincent Meininger et autres

The objective of this study was to describe the care pathway of patients with amyotrophic lateral sclerosis (ALS) based on real-life textual data from a regional coordination network, the Ile-de-France ALS network. This coordination network provides care for 92% of patients diagnosed …

fr (code pays fourni par la source)

Additional file 1 of Neurofilament light and heterogeneity of disease progression in amyotrophic lateral sclerosis: development and validation of a prediction model to improve interventional trials

Simon Witzel, Felix Frauhammer, Petra Steinacker, David Devos et autres

Additional file 1 contains the longitudinal data of each patient in the study (ALSFRS-R sum score, NfL level in pg/ml).