📇 Rhumatologue · PARIS CEDEX 13 · (75) · Hospitalier

M FRANCOIS SALACHAS

Pourquoi vous devez consulter ce praticien

4 raisons identifiées

Plateau technique de référence
Assistance publique – Hôpitaux de Paris (APHP) — équipements et expertise pointus pour les cas complexes
Auteur de référence en rhumatologie
25 articles scientifiques publiés — un praticien à la pointe de la recherche
Expérience confirmée
36 ans d'exercice en rhumatologie — recul clinique solide
Délais de RDV courts dans la région
336.2 rhumatos / 100 000 hab. — département bien doté

Rhumatologue

📍 PARIS CEDEX 13 (75)HospitalierRPPS 10001439719

Expérience confirmée

36ans d'exercice (thèse 1990)

📊 Reconnaissance scientifique : 60/100📝 211 articles publiés🇫🇷 Publications académiques françaises (8)

✨ Génération du profil synthétique IA en cours…

Thèses universitaires

Données ANS publiques (Licence Ouverte 2.0) · Enrichissements MonRhumato 100 % opt-in · Toute personne référencée peut demander la suppression ou la rectification.

Top publications · les plus citées

Phase 1-2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS

The New England journal of medicine · 2020

📚 438 citations🎯 RCR 23.23Top 1% NIH🩺 Clinique🔓 Open Access📄 PDF gratuit ↗

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

Nature genetics · 2021

📚 398 citations🎯 RCR 24.08Top 1% NIH🔓 Open Access📄 PDF gratuit ↗

Lire l'abstract Crossref ↓

Abstract Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons.

European Academy of Neurology (EAN) guideline on the management of amyotrophic lateral sclerosis in collaboration with European Reference Network for Neuromuscular Diseases (ERN EURO-NMD)

European journal of neurology · 2024

📚 97 citations🎯 RCR 27.98Top 0% NIH🩺 Clinique🔓 Open Access📄 PDF gratuit ↗

Lire l'abstract Crossref ↓

AbstractBackgroundThis update of the guideline on the management of amyotrophic lateral sclerosis (ALS) was commissioned by the European Academy of Neurology (EAN) and prepared in collaboration with the European Reference Network for Neuromuscular Diseases (ERN EURO‐NMD) and the support of the European Network for the Cure ALS (ENCALS) and the European Organization for Professionals and Patients with ALS (EUpALS).MethodsGrading of Recommendations Assessment, Development, and Evaluation (GRADE) methodology was used to assess the effectiveness of interventions for ALS. Two systematic reviewers from Cochrane Response supported the guideline panel. The working group identified a total of 26 research questions, performed systematic reviews, assessed the quality of the available evidence, and made specific recommendations. Expert consensus statements were provided where insufficient evidence was available.ResultsA guideline mapping effort revealed only one other ALS guideline that used GRADE methodology (a National Institute for Health and Care Excellence [NICE] guideline). The available evidence was scarce for many research questions. Of the 26 research questions evaluated, the NICE recommendations could be adapted for 8 questions. Other recommendations required updates of existing systematic reviews or de novo reviews. Recommendations were made on currently available disease‐modifying treatments, multidisciplinary care, nutritional and respiratory support, communication aids, psychological support, treatments for common ALS symptoms (e.g., muscle cramps, spasticity, pseudobulbar affect, thick mucus, sialorrhea, pain), and end‐of‐life management.ConclusionsThis update of the guideline using GRADE methodology provides a framework for the management of ALS. The treatment landscape is changing rapidly, and further updates will be prepared when additional evidence becomes available.

Cookies & analyse de trafic

M FRANCOIS SALACHAS

Pourquoi vous devez consulter ce praticien

Thèses universitaires

Activité de recherche & publications

Publications académiques en France

Lieu de consultation

Tarifs & secteur de conventionnement

Prendre rendez-vous & contact

Top publications · les plus citées

Publications scientifiques (25) — classées par pathologie

Transversal9

Génétique8

Épidémiologie & registres2

Recommandations2

Activité physique / Rééducation1

Biomarqueurs / Auto-Ac1

Essai clinique1

Pédiatrie1

Pharmacovigilance1

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