Non-invasive assessment of skeletal muscle fibrosis in mice using nuclear magnetic resonance imaging and ultrasound shear wave elastography

Autor: Aurea B. Martins-Bach, Damien Bachasson, Ericky C. A. Araujo, Lucas Soustelle, Paulo Loureiro de Sousa, Yves Fromes, Pierre G. Carlier

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-15 (2021)

Abstract Fibrosis is a key pathological feature in muscle disorders, but its quantification mainly relies on histological and biochemical assays. Muscle fibrosis most frequently is entangled with other pathological processes, as cell membrane lesions

Externí odkaz: https://doaj.org/article/3ee33b1ee6e54e01b6a86cda27b65658

Differential Gene Expression Profiling of Dystrophic Dog Muscle after MuStem Cell Transplantation.

Autor: Florence Robriquet, Aurélie Lardenois, Candice Babarit, Thibaut Larcher, Laurence Dubreil, Isabelle Leroux, Céline Zuber, Mireille Ledevin, Jack-Yves Deschamps, Yves Fromes, Yan Cherel, Laetitia Guevel, Karl Rouger

Publikováno v: PLoS ONE, Vol 10, Iss 5, p e0123336 (2015)

Several adult stem cell populations exhibit myogenic regenerative potential, thus representing attractive candidates for therapeutic approaches of neuromuscular diseases such as Duchenne Muscular Dystrophy (DMD). We have recently shown that systemic

Externí odkaz: https://doaj.org/article/326afcc66b9241d0aa7718770ea0975c

GDF15 mediates renal cell plasticity in response to potassium depletion

Autor: Samia Lasaad, Christine Walter, Chloé Rafael, Luciana Morla, Alain Doucet, Nicolas Picard, Anne Blanchard, Yves Fromes, Béatrice Matot, Gilles Crambert, Lydie Cheval

A low potassium (K+) intake is a common situation in the population of the Westernized countries where processed food is prevalent in the diet. Here, we show that expression of GDF15, a TGFβ-related growth factor, is increased in renal tubular segme

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f83297090e13d4d4fd060c3abb4b88bc
https://doi.org/10.1101/2022.12.27.521983

Muscle MRI as a Diagnostic Challenge in Emery-Dreifuss Muscular Dystrophy

Autor: Maria João Pinto, Yves Fromes, Isabelle Ackermann-Bonan, France Leturcq, Camille Verebi, Norma B. Romero, Tanya Stojkovic

Publikováno v: Journal of neuromuscular diseases. 9(5)

Emery-Dreifuss Muscular Dystrophy (EDMD) is an early-onset, slowly-progressive group of myopathies, presenting with joint contractures, muscle weakness and cardiac abnormalities. Variants in the EMD gene cause an X-linked recessive form (EDMD1). The

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f22af17c404992f353cc8f1378f6b69d
https://pubmed.ncbi.nlm.nih.gov/36031908

Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype

Autor: M Skorupinska, Guilhem Solé, Philippe Latour, Mary M. Reilly, Andrea Cortese, Tanya Stojkovic, Sachit Shah, Ki Wha Chung, Raul Juntas-Morales, Jana Vandrovcova, Byung-Ok Choi, Menelaos Pipis, Roy Poh, James M. Polke, Philippe Petiot, Matilde Laura, Alexander M. Rossor, Yves Fromes, Julian Blake, Arnaud Jacquier

Publikováno v: Journal of Neurology, Neurosurgery and Psychiatry
Journal of Neurology, Neurosurgery and Psychiatry, 2021, jnnp-2021-327186. ⟨10.1136/jnnp-2021-327186⟩
Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group, 2021, jnnp-2021-327186. ⟨10.1136/jnnp-2021-327186⟩

ObjectiveNeurofilaments are the major scaffolding proteins for the neuronal cytoskeleton, and variants in NEFH have recently been described to cause axonal Charcot-Marie-Tooth disease type 2CC (CMT2CC).MethodsIn this large observational study, we pre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d319da7afd60ea990d61bdd8ccdc0dee
https://hal.sorbonne-universite.fr/hal-03353031/file/jnnp-2021-327186.full.pdf