Literature DB >> 14985404

RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene.

S Shepherd1, F Ellis, J Halsall, P Hopkins, R Robinson.   

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Year:  2004        PMID： 14985404      PMCID： PMC1735714          DOI： 10.1136/jmg.2003.014274

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  19 in total

1.  Clinical utility gene card for: Central core disease.

Authors:  Suzanne Lillis; Stephen Abbs; Clemens R Mueller; Francesco Muntoni; Heinz Jungbluth
Journal:  Eur J Hum Genet       Date:  2011-10-12       Impact factor: 4.246

2.  Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes.

Authors:  Sylvie Ducreux; Francesco Zorzato; Ana Ferreiro; Heinz Jungbluth; Francesco Muntoni; Nicole Monnier; Clemens R Müller; Susan Treves
Journal:  Biochem J       Date:  2006-04-15       Impact factor: 3.857

3.  Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants.

Authors:  Senthilkumar Sadhasivam; Barbara W Brandom; Richard A Henker; John J McAuliffe
Journal:  Pharmacogenomics       Date:  2019-09       Impact factor: 2.533

4.  Role of amino-terminal half of the S4-S5 linker in type 1 ryanodine receptor (RyR1) channel gating.

Authors:  Takashi Murayama; Nagomi Kurebayashi; Toshiharu Oba; Hideto Oyamada; Katsuji Oguchi; Takashi Sakurai; Yasuo Ogawa
Journal:  J Biol Chem       Date:  2011-08-23       Impact factor: 5.157

5.  Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.

Authors:  Haiyan Zhou; Martin Brockington; Heinz Jungbluth; David Monk; Philip Stanier; Caroline A Sewry; Gudrun E Moore; Francesco Muntoni
Journal:  Am J Hum Genet       Date:  2006-09-21       Impact factor: 11.025

6.  Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.

Authors:  Barbara W Brandom; Saiid Bina; Cynthia A Wong; Tarina Wallace; Mihaela Visoiu; Paul J Isackson; Georgirene D Vladutiu; Nyamkhishig Sambuughin; Sheila M Muldoon
Journal:  Anesth Analg       Date:  2013-04-04       Impact factor: 5.108

7.  Muscle weakness in Ryr1I4895T/WT knock-in mice as a result of reduced ryanodine receptor Ca2+ ion permeation and release from the sarcoplasmic reticulum.

Authors:  Ryan E Loy; Murat Orynbayev; Le Xu; Zoita Andronache; Simona Apostol; Elena Zvaritch; David H MacLennan; Gerhard Meissner; Werner Melzer; Robert T Dirksen
Journal:  J Gen Physiol       Date:  2010-12-13       Impact factor: 4.086

8.  A double mutation of the ryanodine receptor type 1 gene in a malignant hyperthermia family with multiminicore myopathy.

Authors:  Seul-Ki Jeong; Dong-Chan Kim; Yong-Gon Cho; Il-Nam Sunwoo; Dal-Sik Kim
Journal:  J Clin Neurol       Date:  2008-09-30       Impact factor: 3.077

9.  A case of dermatomyositis in a patient with central core disease: unusual association with autoimmunity and genetic muscle disease.

Authors:  Min Jung Kim; Mi Hyeon Kim; Sung-Hye Park; Yeong Wook Song
Journal:  Pediatr Rheumatol Online J       Date:  2021-06-30       Impact factor: 3.054

Review 10.  Malignant hyperthermia.

Authors:  Henry Rosenberg; Mark Davis; Danielle James; Neil Pollock; Kathryn Stowell
Journal:  Orphanet J Rare Dis       Date:  2007-04-24       Impact factor: 4.123
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