Results 61 to 70 of about 14,650 (210)

Distinctive serum miRNA profile in mouse models of striated muscular pathologies.

PLoS ONE, 2013
Biomarkers are critically important for disease diagnosis and monitoring. In particular, close monitoring of disease evolution is eminently required for the evaluation of therapeutic treatments.
Nicolas Vignier, Fatima Amor, Paul Fogel, Angélique Duvallet, Jérôme Poupiot, Sabine Charrier, Michel Arock, Marie Montus, Isabelle Nelson, Isabelle Richard, Lucie Carrier, Laurent Servais, Thomas Voit, Gisèle Bonne, David Israeli   +14 more
doaj   +1 more source

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, EarlyView.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

The clinical spectrum of limb girdle muscular dystrophy. A survey in the Netherlands [PDF]

, 1996
A cross-sectional study was performed in the Netherlands to define the clinical characteristics of the various subtypes within the broad and heterogeneous entity of limb girdle muscular dystrophy (LGMD).
Bakker, E. (Egbert), Barth, P.G. (Peter), Bolhuis, P.A. (P.), Busch, H.F.M. (Herman), Essen, J.A. (Anthonie) van, Ginjaar, I.B. (Ieke), Haan, R.J. (Rob) de, Hooff, L.J.M.A. (L. J M A) van, Höweler, C.J. (Chris), Jennekens, F.G.I. (Frans G.), Jongen, P. (P.), Kooj, A.J. (Anneke), Ommen, G.J. (Gert) van, Oosterhuis, H.J.G.H. (H. J G H), Padberg, B. (Barbara), Spaans, F. (F.), Visser, M. (Marianne) de, Wintzen, A.R. (Axel), Wokke, J.H.J. (John)   +18 more
core   +1 more source

Bone health in adults with non‐ambulatory neuromuscular disorders: scoping review of risk factors, diagnosis and management

Internal Medicine Journal, EarlyView.
Abstract Background Non‐ambulatory adults have an increased risk of osteoporosis and fractures due to reduced weight‐bearing and diminished neuromuscular stimulation, resulting in substantial morbidity and mortality. Aims This scoping review aimed to systematically evaluate risk factors, diagnostic indicators and management strategies for optimising ...
Thomas Bailey, Carolyn Droste, John A. Eisman, Steven G. Faux, Arnagretta Hunter   +4 more
wiley   +1 more source

Distrofia muscular congênita. Parte II: revisão da patogênese e perspectivas terapêuticas [PDF]

, 2009
The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and ...
REED, Umbertina Conti
core   +2 more sources

Thrombospondin-4 deletion does not exacerbate muscular dystrophy in β-sarcoglycan-deficient and laminin α2 chain-deficient mice

Scientific Reports
Muscular dystrophy is a group of genetic disorders that lead to muscle wasting and loss of muscle function. Identifying genetic modifiers that alleviate symptoms or enhance the severity of a primary disease helps to understand mechanisms behind disease ...
Paula Zarén, Kinga I. Gawlik
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Genetic disruption of Ano5 in mice does not recapitulate human ANO5-deficient muscular dystrophy [PDF]

, 2015
BACKGROUND: Anoctamin 5 (ANO5) is a member of a conserved gene family (TMEM16), which codes for proteins predicted to have eight transmembrane domains and putative Ca(2+)-activated chloride channel (CaCC) activity. It was recently reported that mutations
Jing Xu, Kyle Floyd, Li Xu, Lixia Zhao, Mona El Refaey, Paul M. L. Janssen, Renzhi Han, Tallib Karaze, Yandi Gao   +8 more
core   +1 more source

Case report: A single novel calpain 3 gene variant associated with mild myopathy

Frontiers in Genetics
Recessively inherited limb-girdle muscular dystrophy type 1, caused by mutations in the calpain 3 gene, is the most common limb-girdle muscular dystrophy worldwide. Recently, cases of autosomal dominant calpainopathy have been described.
Sara Massucco, Paola Fossa, Chiara Fiorillo, Elena Faedo, Chiara Gemelli, Rita Barresi, Michela Ripolone, Serena Patrone, Andrea Gaudio, Paola Mandich, Paola Mandich, Fabio Gotta, Serena Baratto, Monica Traverso, Livia Pisciotta, Livia Pisciotta, Federico Zaottini, Mattia Camera, Elena Scarsi, Marina Grandis, Marina Grandis   +20 more
doaj   +1 more source

DNA-Mediated Gene Therapy in a Mouse Model of Limb Girdle Muscular Dystrophy 2B

Molecular Therapy: Methods & Clinical Development, 2017
Mutations in the gene for dysferlin cause a degenerative disorder of skeletal muscle known as limb girdle muscular dystrophy 2B. To achieve gene delivery of plasmids encoding dysferlin to hind limb muscles of dysferlin knockout mice, we used a vascular ...
Julia Ma, Christophe Pichavant, Haley du Bois, Mital Bhakta, Michele P. Calos   +4 more
doaj   +1 more source