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central core disease相关文献:
A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy.
Ogasawara M, Nishino I.
Neuromuscul Disord. 2021 Oct;31(10):968-977. doi: 10.1016/j.nmd.2021.08.015. Epub 2021 Sep 17.
PMID:34627702
Mutations in RYR1 in malignant hyperthermia and central core disease.
Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P.
Hum Mutat. 2006 Oct;27(10):977-89. doi: 10.1002/humu.20356.
PMID:16917943
Central core disease.
Jungbluth H.
Orphanet J Rare Dis. 2007 May 15;2:25. doi: 10.1186/1750-1172-2-25.
PMID:17504518
Central Core Disease - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
Malicdan MCV, Nishino I.
2007 May 16 [updated 2014 Dec 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID:20301565
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
Garibaldi M, Rendu J, Brocard J, Lacene E, Fauré J, Brochier G, Beuvin M, Labasse C, Madelaine A, Malfatti E, Bevilacqua JA, Lubieniecki F, Monges S, Taratuto AL, Laporte J, Marty I, Antonini G, Romero NB.
Acta Neuropathol Commun. 2019 Jan 5;7(1):3. doi: 10.1186/s40478-018-0655-5.
PMID:30611313
Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms.
Cotta A, Souza LS, Carvalho E, Feitosa LN, Cunha A Jr, Navarro MM, Valicek J, Menezes MM, Neves SVN, Xavier-Neto R, Vargas AP, Takata RI, Paim JF, Vainzof M.
Genes (Basel). 2022 Apr 26;13(5):760. doi: 10.3390/genes13050760.
PMID:35627144
Central core disease.
[No authors listed]
Lancet. 1988 Apr 16;1(8590):866.
PMID:2895371
Malignant Hyperthermia.
Kaur H, Katyal N, Yelam A, Kumar K, Srivastava H, Govindarajan R.
Mo Med. 2019 Mar-Apr;116(2):154-159.
PMID:31040503
Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches.
Lawal TA, Todd JJ, Meilleur KG.
Neurotherapeutics. 2018 Oct;15(4):885-899. doi: 10.1007/s13311-018-00677-1.
PMID:30406384
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ.
Orphanet J Rare Dis. 2013 Aug 6;8:117. doi: 10.1186/1750-1172-8-117.
PMID:23919265
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