Results 91 to 100 of about 5,189 (209)

Ins and outs of therapy in limb girdle muscular dystrophies

, 2007
International audienceMuscular dystrophies are hereditary degenerative muscle diseases that cause life-long disability in patients. They comprise the well-known Duchenne Muscular Dystrophy (DMD) but also the group of Limb Girdle Muscular Dystrophies ...
Richard, Isabelle, Danièle, Nathalie, Bartoli, Marc   +2 more
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A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies

, 1999
The autosomal progressive muscular dystrophies which are grouped together under the term limb girdle muscular dystrophies (LGMD) are diseases characterized by a progressive impairment of the proximal limb muscles and myopathic changes on electromyogram ...
Burgunder, J. M., Bourg, N., Eymard, B., Garcia, C., Legum, C., Marchand, S., van der Kooi, A. J., de Visser, M., Richard, I., Alibert, O., Jackson, C. E., Fardeau, M., Beckmann, J. S.   +12 more
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Duchenne muscular dystrophy and limb-girdle muscular dystrophy: clinical cases [PDF]

, 2018
Nicolae Testemitanu State University of Medicine and Pharmacy of the Republic of MoldovaBackground : Muscular dystrophies (MD) represent a large group of genetic disorders that are manifested by progressive increase of muscle weakness. Duchenne muscular
Bejan, Nadejda
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A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan

, 2003
The limb girdle muscular dystrophies are a heterogeneous group of conditions characterized by proximal muscle weakness and disease onset ranging from infancy to adulthood.
Topaloglu, H., Yuva, Y, Atalay, RC, Dincel, D, Kale, G., Haliloglu, G., Dincer, P., Gerceker, FO, Longman, C., Yakıcıer, C., Balci, BURCU, Yakicier, C, Haliloglu, G, Dincer, PERVİN RUKİYE, Muntoni, F., Yuva, Y., Talim, BERİL, Kale, G, Balcı, B., Dincel, D., Brockington, M., Brockington, M, Torelli, S, Talim, B., Atalay, R. C., Muntoni, F, Torelli, S., Topaloglu, H, Gerceker, F. O., Longman, C, Sue, B. B., Sue, BB   +31 more
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Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene

, 2017
How to Cite This Article: Ghafouri-Fard S, Hashemi-Gorji F, Fardaei M, Miryounesi M. Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene. Iran J Child Neurol. Summer 2017; 11(3):57-60.
HASHEMI-GORJI, Feyzollah, FARDAEI, Majid, GHAFOURI-FARD, Soudeh, MIRYOUNESI, Mohammad   +3 more
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Muscle exercise in limb girdle muscular dystrophies: pitfall and advantages [PDF]

, 2015
Different genetic mutations underlying distinct pathogenic mechanisms have been identified as cause of muscle fibers degeneration and strength loss in limb girdle muscular dystrophies (LGMD).
Angelini C., Ricci G., Giannotti S., Angelini, Corrado, Siciliano, Gabriele, Ricci, Giulia, Simoncini C., Zampa, Virna, Giannotti, Stefano, Simoncini, Costanza, Siciliano G., Zampa V.   +11 more
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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
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Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene

, 2013
Defects in the posttranslational modification of α-dystroglycan (α-DG) have been implicated in clinically distinct dystroglycanopathies that present as congenital muscular dystrophies with multisystem involvement, limb-girdle muscular dystrophies (LGMDs),
Ricci, Enzo, Tasca, Giorgio
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The Childhood Limb-Girdle Muscular Dystrophies

The heterogeneous childhood limb-girdle muscular dystrophies have originally been defined as a group of autosomal recessive and dominant diseases with progressive weakness and wasting of shoulder and pelvic-girdle muscles.
Bushby K, Straub V
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Sarcospan protects against LGMD R5 via remodeling of the sarcoglycan complex composition in dystrophic mice

The Journal of Clinical Investigation
The dystrophin-glycoprotein complex (DGC) is composed of peripheral and integral membrane proteins at the muscle cell membrane that link the extracellular matrix with the intracellular cytoskeleton.
Ekaterina I. Mokhonova, Daniel Helzer, Ravinder Malik, Hafsa Mamsa, Jackson Walker, Mark Maslanka, Tess S. Fleser, Mohammad H. Afsharinia, Shiheng Liu, Johan Holmberg, Z. Hong Zhou, Eric J. Deeds, Kirk C. Hansen, Elizabeth M. McNally, Rachelle H. Crosbie   +14 more
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