Kolexia
Ferrer-Monasterio Xavier Neurologie
Ferrer-Monasterio Xavier
Neurologie
CHU Bordeaux
Bordeaux, France
41 Activités
0 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Maladies musculaires Dystrophies musculaires Maladies des dents Maladie de Charcot-Marie-Tooth Tachycardie ventriculaire Dystrophies musculaires des ceintures Mort subite Dystrophie musculaire d'Emery-Dreifuss liée à l'X Tachycardie

Collaborateurs

Voir plus
Sole Guilhem
Sole Guilhem
Hôpital Saint-André, Bordeaux, France
Eymard Bruno
Eymard Bruno
Hôpital Pitie Salpetriere, Paris, France
Vital Anne
Vital Anne
CHU Bordeaux, Bordeaux, France
Laforet Pascal
Laforet Pascal
Hôpital Raymond-Poincaré, Garches, France

Industries

Voir plus
Sanofi
1 collaboration(s)
Dernière en 2017
LFB
1 collaboration(s)
Dernière en 2017
{{person.topindus3.name}}
{{person.topindus3.tot}} collaboration(s)
Dernière en {{person.topindus3.last}}
{{person.topindus4.name}}
{{person.topindus4.tot}} collaboration(s)
Dernière en {{person.topindus4.last}}

Dernières activités

Voir plus
OPALE: Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)
Essai Clinique (Hôpital Pitie Salpetriere)   13 décembre 2023
PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling.
Journal of neuromuscular diseases   20 novembre 2019
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.
Circulation   03 juin 2019
A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes.
The Journal of molecular diagnostics : JMD   21 mai 2018
Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.
European journal of neurology   30 mars 2018
Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms.
Journal of neuromuscular diseases   15 mars 2018
Fatal familial insomnia: a video-polysomnographic case report.
Sleep medicine   10 mars 2017
Bent spine syndrome as the initial symptom of late-onset Pompe disease.
Muscle & nerve   30 novembre 2016
GNE myopathy: Characteristics of affected patients diagnosed in mainland France
21st International Congress of the World Muscle Society   01 octobre 2016
Efficiency of targeted NGS on myopathies and muscular dystrophy genes: Importance of an optimized strategy of capture, sequencing, bioinformatic analyses and multidisciplinary approach for variants detection and interpretation
21st International Congress of the World Muscle Society   01 octobre 2016