Literature DB >> 14732615

Multiminicore myopathy, central core disease, malignant hyperthermia susceptibility, and RYR1 mutations: one disease with many faces?

Katherine D Mathews, Steven A Moore.   

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Year:  2004        PMID： 14732615     DOI： 10.1001/archneur.61.1.27

Source DB:  PubMed          Journal:  Arch Neurol        ISSN： 0003-9942


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  13 in total

1.  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

Review 2.  Stressed out: the skeletal muscle ryanodine receptor as a target of stress.

Authors:  Andrew M Bellinger; Marco Mongillo; Andrew R Marks
Journal:  J Clin Invest       Date:  2008-02       Impact factor: 14.808

Review 3.  Ca2+ Release Channels Join the 'Resolution Revolution'.

Authors:  Ran Zalk; Andrew R Marks
Journal:  Trends Biochem Sci       Date:  2017-05-09       Impact factor: 13.807

4.  Decrease of RyR2 in the prion infected cell line and in the brains of the scrapie infected mice models and the patients of human prion diseases.

Authors:  Qi Shi; Jian-Le Li; Yue Ma; Li-Ping Gao; Kang Xiao; Jing Wang; Wei Zhou; Cao Chen; Yan-Jun Guo; Xiao-Ping Dong
Journal:  Prion       Date:  2018-06-07       Impact factor: 3.931

Review 5.  [Malignant hyperthermia. The ugly].

Authors:  H Rüffert; M Wehner; C Deutrich; D Olthoff
Journal:  Anaesthesist       Date:  2007-09       Impact factor: 1.041

6.  Ryanodine receptors.

Authors:  E Michelle Capes; Randall Loaiza; Héctor H Valdivia
Journal:  Skelet Muscle       Date:  2011-05-04       Impact factor: 4.912

7.  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

Review 8.  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

9.  Successful anaesthetic management of a patient with prior history of malignant hyperthermia for corrective scoliosis surgery.

Authors:  Muralidhar Joshi; B Amarnath Reddy; Bhargavi Bollampally; Sachin D Joshi
Journal:  Indian J Anaesth       Date:  2014-01

10.  Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.

Authors:  Joshua J Todd; Muslima S Razaqyar; Jessica W Witherspoon; Tokunbor A Lawal; Ami Mankodi; Irene C Chrismer; Carolyn Allen; Mary D Meyer; Anna Kuo; Monique S Shelton; Kim Amburgey; Dmitriy Niyazov; Pierre Fequiere; Carsten G Bönnemann; James J Dowling; Katherine G Meilleur
Journal:  Front Neurol       Date:  2018-03-05       Impact factor: 4.003
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