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Sarcoglycanopathies: an update.
Vainzof M, Souza LS, Gurgel-Giannetti J, Zatz M. Vainzof M, et al. Neuromuscul Disord. 2021 Oct;31(10):1021-1027. doi: 10.1016/j.nmd.2021.07.014. Epub 2021 Jul 28. Neuromuscul Disord. 2021. PMID: 34404573 Review.
Sarcoglycanopathies are the most severe forms of autosomal recessive limb-girdle muscular dystrophies (LGMDs), constituting about 10-25% of LGMDs. ...
Sarcoglycanopathies are the most severe forms of autosomal recessive limb-girdle muscular dystroph
Sarcoglycanopathies.
Kirschner J, Lochmüller H. Kirschner J, et al. Handb Clin Neurol. 2011;101:41-6. doi: 10.1016/B978-0-08-045031-5.00003-7. Handb Clin Neurol. 2011. PMID: 21496623 Review.
The so-called sarcoglycanopathies form a subgroup of four genetically closely related autosomal recessive limb-girdle muscular dystrophies (LGMD2C-F) caused by mutations of the alpha-, beta-, gamma-, and delta-sarcoglycan genes. ...The di …
The so-called sarcoglycanopathies form a subgroup of four genetically closely related autosomal recessive limb- …
Limb-girdle muscular dystrophy.
Mathews KD, Moore SA. Mathews KD, et al. Curr Neurol Neurosci Rep. 2003 Jan;3(1):78-85. doi: 10.1007/s11910-003-0042-9. Curr Neurol Neurosci Rep. 2003. PMID: 12507416 Review.
The limb-girdle muscular dystrophies (LGMDs) are a group of muscular dystrophies that share a similar clinical phenotype. ...Some are allelic with other forms of muscular dystrophy; LGMD 1B is allelic with autosomal dominant Emery- …
The limb-girdle muscular dystrophies (LGMDs) are a group of muscular dystrophies that share a similar clinical p …
Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review.
Lorenzoni PJ, Kay CSK, Ducci RD, Fustes OJH, Rodrigues PRDVP, Hrysay NMC, Arndt RC, Werneck LC, Scola RH. Lorenzoni PJ, et al. Arq Neuropsiquiatr. 2023 Oct;81(10):922-933. doi: 10.1055/s-0043-1772833. Epub 2023 Oct 18. Arq Neuropsiquiatr. 2023. PMID: 37852290 Free PMC article. Review.
Limb-girdle muscular dystrophy (LGMD) is a group of myopathies that lead to progressive muscle weakness, predominantly involving the shoulder and pelvic girdles; it has a heterogeneous genetic etiology, with variation in the prevalence of subtypes acco
Limb-girdle muscular dystrophy (LGMD) is a group of myopathies that lead to progressive muscle weakness, predomi
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 Review.
Limb-girdle muscular dystrophies (LGMDs) represent a major group of muscle disorders. ...Lay abstract Limb-girdle muscular dystrophy is a term that is applied to a group of relatively rare forms of muscular dystrophy.
Limb-girdle muscular dystrophies (LGMDs) represent a major group of muscle disorders. ...Lay abstract Limb-gi
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 …
The limb-girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous, autosomal inherited mu
Advanced therapeutic approaches in sarcoglycanopathies.
Scano M, Benetollo A, Dalla Barba F, Sandonà D. Scano M, et al. Curr Opin Pharmacol. 2024 Jun;76:102459. doi: 10.1016/j.coph.2024.102459. Epub 2024 May 6. Curr Opin Pharmacol. 2024. PMID: 38713975 Free article. Review.
Sarcoglycanopathies are rare autosomal recessive diseases belonging to the family of limb-girdle muscular dystrophies. ...The mutations impair the assembly of a key structural complex, which normally protects the sarcolemma of striated mu
Sarcoglycanopathies are rare autosomal recessive diseases belonging to the family of limb-girdle muscu
[Sarcoglycanopathies].
Colomer J. Colomer J. Rev Neurol. 1999 Jan 16-31;28(2):150-3. Rev Neurol. 1999. PMID: 10101783 Review. Spanish.
Identification of several clinical pictures in relation to a deficit of various protein components of the sarcoglycan complex, has allowed a new classification to be established for muscular dystrophies, correlating the protein alpha, beta, gamma, sigma deficit with a t
Identification of several clinical pictures in relation to a deficit of various protein components of the sarcoglycan complex, has allowed a …
The 10 autosomal recessive limb-girdle muscular dystrophies.
Zatz M, de Paula F, Starling A, Vainzof M. Zatz M, et al. Neuromuscul Disord. 2003 Sep;13(7-8):532-44. doi: 10.1016/s0960-8966(03)00100-7. Neuromuscul Disord. 2003. PMID: 12921790 Review.
Fifteen forms of limb-girdle muscular dystrophies (5 autosomal dominant and 10 autosomal recessive) have already been found. ...This review will focus on the most recent data on autosomal recessive-limb-girdle
Fifteen forms of limb-girdle muscular dystrophies (5 autosomal dominant and 10 autosomal recessive
Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy.
Angelini C, Tasca E, Nascimbeni AC, Fanin M. Angelini C, et al. Acta Myol. 2014 Dec;33(3):119-26. Acta Myol. 2014. PMID: 25873780 Free PMC article. Review.
Muscle fatigability and atrophy are frequent clinical signs in limb girdle muscular dystrophy (LGMD), but their pathogenetic mechanisms are still poorly understood. ...Calpainopathy, dysferlinopathy, and caveolinopathy present gradual onset of fatigabi …
Muscle fatigability and atrophy are frequent clinical signs in limb girdle muscular dystrophy (LGMD), but their …
36 results