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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Neuromuscular Diseases and RYR1[original query]
JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor.
Human mutation 2013 Jan 34 (1): 184-90.
Yasuda Toshimichi, Delbono Osvaldo, Wang Zhong-Min, Messi Maria L, Girard Thierry, Urwyler Albert, Treves Susan, Zorzato Frances
Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
Clinical genetics 2016 May .
Fattahi Zohreh, Kalhor Zahra, Fadaee Mahsa, Vazehan Raheleh, Parsimehr Elham, Abolhassani Ayda, Beheshtian Maryam, Zamani Gholamreza, Nafissi Shahriar, Nilipour Yalda, Akbari Mohammad R, Kahrizi Kimia, Kariminejad Ariana, Najmabadi Hosse
[From gene to cell: Functional validation of RYR1 variants].
Medecine sciences : M/S 2024 11 40 Hors série n° 1 30-33.
Robin Reynaud Dulaurier, Julie Brocard, John Rendu, Nagi Debbah, Julien Fauré, Isabelle Mar
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