A5030945081- Muscle Physiology and Disorders
- Nuclear Structure and Function
- RNA Research and Splicing
- Neurogenetic and Muscular Disorders Research
- Cardiomyopathy and Myosin Studies
- Genetic Neurodegenerative Diseases
- Cell Adhesion Molecules Research
- RNA regulation and disease
- Hereditary Neurological Disorders
- Mitochondrial Function and Pathology
- Cellular Mechanics and Interactions
- RNA modifications and cancer
- Inflammatory Myopathies and Dermatomyositis
- Glycogen Storage Diseases and Myoclonus
- Lysosomal Storage Disorders Research
- Ion channel regulation and function
- Signaling Pathways in Disease
- Adipose Tissue and Metabolism
- Tissue Engineering and Regenerative Medicine
- Connective tissue disorders research
- Neurological diseases and metabolism
- Skin and Cellular Biology Research
- Biotin and Related Studies
- Autophagy in Disease and Therapy
- Cervical and Thoracic Myelopathy
University of Bologna
2007-2024
Institut de Myologie
1997-2020
Université Paris Cité
1997-2020
Centre National de la Recherche Scientifique
2020
Assistance Publique – Hôpitaux de Paris
2020
Pitié-Salpêtrière Hospital
2020
Sorbonne Université
2020
University of Ferrara
2005-2019
Hôpital Lyon Sud
2018
Hospices Civils de Lyon
2018
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of the elbows and Achilles tendons, slowly progressive muscle wasting weakness, life-threatening cardiomyopathy with conduction blocks. We recently identified LMNA encoding two nuclear envelope proteins, lamins A C, to be implicated in autosomal dominant form EDMD. Here, we report on variability phenotype spectrum mutations 53 EDMD patients (36 members 6 families 17 sporadic cases). Twelve showed cardiac...
Ullrich congenital muscular dystrophy and Bethlem myopathy are skeletal muscle diseases that due to mutations in the genes encoding collagen VI, an extracellular matrix protein forming a microfibrillar network is particularly prominent endomysium of muscle. Myoblasts from patients affected by display functional ultrastructural mitochondrial alterations increased apoptosis inappropriate opening permeability transition pore, inner membrane channel. These could be normalized treatment with...
Ullrich congenital muscular dystrophy is a severe genetically and clinically heterogeneous muscle disorder linked to collagen VI deficiency. The pathogenesis of the disease unknown. To assess potential role mitochondrial dysfunction in onset fiber death this form dystrophy, we studied biopsies myoblast cultures obtained from patients with different genetic defects variable clinical presentations disease. We identified latent myoblasts that matched an increased occurrence spontaneous...
Hereditary neuropathies form a heterogeneous group of disorders for which over 40 causal genes have been identified to date. Recently, dominant mutations in the transient receptor potential vanilloid 4 gene were found be associated with three distinct neuromuscular phenotypes: hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy congenital distal atrophy. Transient encodes cation channel previously implicated several types dominantly inherited bone dysplasia...
Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, abnormally centralized nuclei. Autosomal dominant CNM due to mutations in the large GTPase dynamin 2 (DNM2), mechanochemical enzyme regulating cytoskeleton membrane trafficking cells. To date, 40 families CNM-related DNM2 have been described, here we report 60 additional encompassing broad genotypic phenotypic spectrum. In total, 18...
Abstract Objective Mutations in the genes encoding extracellular matrix protein collagen VI (ColVI) cause a spectrum of disorders with variable inheritance including Ullrich congenital muscular dystrophy, Bethlem myopathy, and intermediate phenotypes. We extensively characterized, at clinical, cellular, molecular levels, 49 patients onset first 2 years life to investigate genotype‐phenotype correlations. Methods Patients were classified into 3 groups: early‐severe (18%), moderate‐progressive...
Abstract Introduction: Corticosteroid treatment is the standard of care in Duchenne muscular dystrophy (DMD), but optimal age to initiate and dosage pattern remain a matter discussion. Methods: We performed long‐term study alternate‐day corticosteroids five 2‐ 4‐year‐old DMD patients. The primary outcome measure was prolongation ability walk. Results: One patient lost ambulation at 10. Four patients, aged 16 18 were fully ambulant, 3 them could still climb stairs. Respiratory function...
Background and Purpose— Emery-Dreifuss muscular dystrophy (EDMD) is a rare inherited disorder associated with cardiac involvement. We investigated the spectrum relevance of manifestations EDMD, focusing on bradyarrhythmias tachyarrhythmias (including atrial fibrillation/flutter), embolic stroke, heart failure. Methods Results— Eighteen patients (age 42.8±19.6 years) genetically confirmed X-linked (n=10, including 3 carriers) or autosomal dominant (n=8) EDMD were followed for period ranging...
We present here the clinical, molecular and biochemical findings from 238 limb-girdle muscular dystrophy type 2A (LGMD2A) patients, representing ∼50% (238 out of 484) suspected calpainopathy cases referred for study calpain 3 (CAPN3) gene. The mean age at onset LGMD2A patients was ∼14 years, first symptoms occurred between 6 18 years in 71% patients. which became wheelchair bound 32.2 with 84% requiring use a 21 40 years. There no correlation time patient bound, nor sex risk becoming bound....