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Page 1
Unmet needs and evolving treatment for limb girdle muscular dystrophies.
Pozsgai E, Griffin D, Potter R, Sahenk Z, Lehman K, Rodino-Klapac LR, Mendell JR. Pozsgai E, et al. Neurodegener Dis Manag. 2021 Oct;11(5):411-429. doi: 10.2217/nmt-2020-0066. Epub 2021 Sep 2. Neurodegener Dis Manag. 2021. PMID: 34472379 Free article. Review.
Treatment is sorely needed and currently expanding based on safety and efficacy adopting principles of single-dosing gene therapy for monogenic autosomal recessive disorders. Gene therapy has made in-roads for LGMD and this review describes progress that has been ac …
Treatment is sorely needed and currently expanding based on safety and efficacy adopting principles of single-dosing gene therapy for monoge …
Untangling the complexity of limb-girdle muscular dystrophies.
Liewluck T, Milone M. Liewluck T, et al. Muscle Nerve. 2018 Aug;58(2):167-177. doi: 10.1002/mus.26077. Epub 2018 Feb 7. Muscle Nerve. 2018. PMID: 29350766 Review.
The limb-girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous, autosomal inherited muscular dystrophies with a childhood to adult onset, manifesting with hip- and shoulder-girdle muscle weakness. When the term LGMD was first conceptualized in 1954, …
The limb-girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous, autosomal inherited muscular dystrophies with …
Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A).
Kramerova I, Beckmann JS, Spencer MJ. Kramerova I, et al. Biochim Biophys Acta. 2007 Feb;1772(2):128-44. doi: 10.1016/j.bbadis.2006.07.002. Epub 2006 Jul 15. Biochim Biophys Acta. 2007. PMID: 16934440 Free article. Review.
Limb girdle muscular dystrophy type 2A results from mutations in the gene encoding the calpain 3 protease. Mutations in this disease are inherited in an autosomal recessive fashion and result in progressive proximal skeletal
Limb girdle muscular dystrophy type 2A results from mutations in the gene encoding the calpain 3 p
Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IkappaBalpha/NF-kappaB survival pathway in skeletal muscle.
Baghdiguian S, Richard I, Martin M, Coopman P, Beckmann JS, Mangeat P, Lefranc G. Baghdiguian S, et al. J Mol Med (Berl). 2001 Jun;79(5-6):254-61. doi: 10.1007/s001090100225. J Mol Med (Berl). 2001. PMID: 11485017 Review.
Limb girdle muscular dystrophies (LGMDs) are a group of clinically heterogeneous genetic diseases characterized by progressive weakness and atrophy of scapular and pelvic muscles, with either a dominant or recessive autosomic mode of inheritance. The first symptoms …
Limb girdle muscular dystrophies (LGMDs) are a group of clinically heterogeneous genetic diseases characterized by progressive weakness and …
Skeletal muscle-specific calpain, p94, and connectin/titin: their physiological functions and relationship to limb-girdle muscular dystrophy type 2A.
Sorimachi H, Ono Y, Suzuki K. Sorimachi H, et al. Adv Exp Med Biol. 2000;481:383-95; discussion 395-7. doi: 10.1007/978-1-4615-4267-4_23. Adv Exp Med Biol. 2000. PMID: 10987085 Review.
The skeletal muscle-specific calpain homologue, p94 (also called calpain 3), is essential for normal muscle function. A mutation of the p94 gene causes limb-girdle muscular dystrophy type 2A (LGMD2A), which is one type of autosomal
The skeletal muscle-specific calpain homologue, p94 (also called calpain 3), is essential for normal muscle function. A mutation of the p94 …
Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance.
Beckmann JS, Spencer M. Beckmann JS, et al. Neuromuscul Disord. 2008 Dec;18(12):913-21. doi: 10.1016/j.nmd.2008.08.005. Epub 2008 Oct 29. Neuromuscul Disord. 2008. PMID: 18974005 Free PMC article. Review.
Thirteen years ago it was discovered that mutations in calpain 3 (CAPN3) result in an autosomal recessive and progressive form of limb girdle muscular dystrophy called limb girdle muscular dystrophy type 2A. ...
Thirteen years ago it was discovered that mutations in calpain 3 (CAPN3) result in an autosomal recessive and progressive form …