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For: Kondo E, Nishimura T, Kosho T, Inaba Y, Mitsuhashi S, Ishida T, Baba A, Koike K, Nishino I, Nonaka I, Furukawa T, Saito K. Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing. Am J Med Genet 2012;158A:772-8. [DOI: 10.1002/ajmg.a.35243] [Cited by in Crossref: 23] [Cited by in F6Publishing: 21] [Article Influence: 2.3] [Reference Citation Analysis]
Number Citing Articles
1 Christophers B, Lopez MA, Gupta VA, Vogel H, Baylies M. Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data. J Child Neurol 2022;37:652-63. [DOI: 10.1177/08830738221096316] [Reference Citation Analysis]
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3 Balakrishnan M, Yu SF, Chin SM, Soffar DB, Windner SE, Goode BL, Baylies MK. Cofilin Loss in Drosophila Muscles Contributes to Muscle Weakness through Defective Sarcomerogenesis during Muscle Growth. Cell Rep 2020;32:107893. [PMID: 32697999 DOI: 10.1016/j.celrep.2020.107893] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
4 Tiberi E, Costa S, De Rose DU, Romeo DM, Primiano G, Gaudino S, Servidei S, Mercuri E, Vento G. Expanding the spectrum of congenital myopathies: prenatal onset with extreme hyperextension of the neck. Neurol Sci 2021;42:1549-53. [PMID: 33244741 DOI: 10.1007/s10072-020-04937-x] [Reference Citation Analysis]
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10 Alkhunaizi E, Shuster S, Shannon P, Siu VM, Darilek S, Mohila CA, Boissel S, Ellezam B, Fallet-Bianco C, Laberge AM, Zandberg J, Injeyan M, Hazrati LN, Hamdan F, Chitayat D. Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum. Am J Med Genet A 2019;179:386-96. [PMID: 30652412 DOI: 10.1002/ajmg.a.61025] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 3.0] [Reference Citation Analysis]
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13 Litman RS, Griggs SM, Dowling JJ, Riazi S. Malignant Hyperthermia Susceptibility and Related Diseases. Anesthesiology 2018;128:159-67. [DOI: 10.1097/aln.0000000000001877] [Cited by in Crossref: 46] [Cited by in F6Publishing: 16] [Article Influence: 11.5] [Reference Citation Analysis]
14 Yamamoto D, Imai T, Tsuda E, Hozuki T, Yamauchi R, Hisahara S, Kawamata J, Shimohama S. Effect of local cooling on excitation-contraction coupling in myasthenic muscle: Another mechanism of ice-pack test in myasthenia gravis. Clinical Neurophysiology 2017;128:2309-17. [DOI: 10.1016/j.clinph.2017.08.030] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.8] [Reference Citation Analysis]
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17 Kitamura Y, Kondo E, Urano M, Aoki R, Saito K. Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders. J Hum Genet 2016;61:931-42. [PMID: 27357428 DOI: 10.1038/jhg.2016.79] [Cited by in Crossref: 13] [Cited by in F6Publishing: 12] [Article Influence: 2.2] [Reference Citation Analysis]
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22 Riazi S, Nolan K, Rosenberg H. From the Journal archives: Hereditary aspects of malignant hyperthermia. Can J Anesth/J Can Anesth 2014;61:1122-5. [DOI: 10.1007/s12630-014-0233-7] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
23 Shaaban S, Ramos-Platt L, Gilles FH, Chan WM, Andrews C, De Girolami U, Demer J, Engle EC. RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia. JAMA Ophthalmol 2013;131:1532-40. [PMID: 24091937 DOI: 10.1001/jamaophthalmol.2013.4392] [Cited by in Crossref: 21] [Cited by in F6Publishing: 15] [Article Influence: 2.6] [Reference Citation Analysis]
24 Vasli N, Laporte J. Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders. Acta Neuropathol 2013;125:173-85. [PMID: 23224362 DOI: 10.1007/s00401-012-1072-7] [Cited by in Crossref: 31] [Cited by in F6Publishing: 30] [Article Influence: 3.4] [Reference Citation Analysis]