Results 91 to 100 of about 7,593 (207)

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

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies. [PDF]

, 2017
BACKGROUND: The phenotypic severity of congenital muscular dystrophy-dystroglycanopathy (MDDG) syndromes associated with aberrant glycosylation of α-dystroglycan ranges from the severe Walker-Warburg syndrome or muscle-eye-brain disease to mild, late ...
Abbaszadegan, MR, Ashrafi, MR, Brummelkamp, TR, de Brouwer, APM, Jae, LT, Jamshidi, Y, Kleefstra, T, Kusters, B, Lefeber, DJ, Maroofian, R, Mehrjardi, MYV, Nasseri, M, Pfundt, R, Riemersma, M, van Bokhoven, H, Willemsen, MA, Willemsen, MH, Wissink-Lindhout, WM, Zhianabed, N   +18 more
core   +3 more sources

Universal Proteomic Signature After Exercise‐Induced Muscle Injury in Muscular Dystrophies

Annals of Clinical and Translational Neurology
Objective Several neuromuscular disorders (NMDs) are characterized by progressive muscle damage and are marked by the elevation of circulating muscle proteins from activity‐related injury.
Mads G. Stemmerik, Benjamin Barthel, Nanna R. Andersen, Sofie V. Skriver, Alan J. Russell, John Vissing   +5 more
doaj   +1 more source

LGMD2I in a North American population

BMC Musculoskeletal Disorders, 2007
Background There is a marked variation in clinical phenotypes that have been associated with mutations in FKRP, ranging from severe congenital muscular dystrophies to limb-girdle muscular dystrophy type 2I (LGMD2I).
White Alexander J, Thorne Marielle, Estrella Elicia, Feener Chris A, Kang Peter B, Darras Basil T, Amato Anthony A, Kunkel Louis M   +7 more
doaj   +1 more source

Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD [PDF]

, 2010
Background Limb-girdle muscular dystrophy type 2C (LGMD2C) is an autosomal recessive muscle dystrophy that resembles Duchenne muscular dystrophy (DMD).
Yo Okizuka, Yasuhiro Takeshima, Kyoko Itoh, Zhujun Zhang, Hiroyuki Awano, Koichi Maruyama, Toshiyuki Kumagai, Mariko Yagi, Masafumi Matsuo, AEH Emery, CG Bonnemann, E Ozawa, EM McNally, M Guglieri, AJ van der Kooi, AE Emery, B Georgieva, SA Moore, M Matsuo, Y Takeshima, EM Welch, M Matsuo, VK Tran, M Yagi, I Stec, M Vainzof, YK Hayashi, A Takano, L Klinge, AA Hack, M Vainzof, DR Duncan   +31 more
core   +1 more source

Atypical Phenotype in Two Patients with LAMA2 Mutations [PDF]

, 2014
Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the a2-chain of laminin. We report two patients with partial laminin-a2 deficiency and atypical phenotypes, one with almost exclusive central nervous system ...
Bronze-da-Rocha, E, Calado, E, Costa, S, Duarte, S, Evangelista, T, Jacinto, S, Marques, J, Oliveira, J, Oliveira, M, Santos, R, Silvestre, AR   +10 more
core   +1 more source

An AAV-SGCG Dose-Response Study in a γ-Sarcoglycanopathy Mouse Model in the Context of Mechanical Stress

Molecular Therapy: Methods & Clinical Development, 2019
Sarcoglycanopathies are rare autosomic limb girdle muscular dystrophies caused by mutations in one of the genes coding for sarcoglycans. Sarcoglycans form a complex, which is an important part of the dystrophin-associated glycoprotein complex and which ...
David Israeli, Jérémie Cosette, Guillaume Corre, Fatima Amor, Jérôme Poupiot, Daniel Stockholm, Marie Montus, Bernard Gjata, Isabelle Richard   +8 more
doaj   +1 more source

Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy

Case Reports in Genetics, 2018
Limb girdle muscular dystrophies (LGMDs) are a heterogeneous group of genetic myopathies leading primarily to proximal muscle weakness. It is caused by mutations at over 50 known genetic loci typically from mutations in genes encoding constituents of the
Xike Wang, Yue Wu, Yuxia Cui, Nan Wang, Lasse Folkersen, Yuchuan Wang   +5 more
doaj   +1 more source

Case Report: Exploring the clinical spectrum of LGMD R27: insights from a case study with homozygous pathogenic variant in the JAG2 gene

Frontiers in Pediatrics
Limb-girdle muscular dystrophies (LGMD) constitute a heterogeneous group of genetic disorders characterized by progressive muscle weakness and atrophy, predominantly affecting the muscles of the pelvic and shoulder girdles.
Sergey Nikitin, Evgeniya Melnik, Inna Sharkova, Aysylu Murtazina, Olga Shchagina, Victoriia Zabnenkova, Vadim Tsargush, Elena Dadali, Sergey Kutsev   +8 more
doaj   +1 more source

Limb girdle muscular dystrophies

Česká a slovenská neurologie a neurochirurgie, 2022
Lívie Mensová, Daniel Baumgartner, Veronika Potočková, Radim Mazanec   +3 more
openaire   +1 more source