Literature DB >> 21989361

Clinical utility gene card for: Central core disease.

Suzanne Lillis1, Stephen Abbs, Clemens R Mueller, Francesco Muntoni, Heinz Jungbluth.   

Abstract

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Year:  2011        PMID： 21989361      PMCID： PMC3260933          DOI： 10.1038/ejhg.2011.179

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  38 in total

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

Authors:  S Shepherd; F Ellis; J Halsall; P Hopkins; R Robinson
Journal:  J Med Genet       Date:  2004-03       Impact factor: 6.318

2.  Missense mutations of ACTA1 cause dominant congenital myopathy with cores.

Authors:  A M Kaindl; F Rüschendorf; S Krause; H-H Goebel; K Koehler; C Becker; D Pongratz; J Müller-Höcker; P Nürnberg; G Stoltenburg-Didinger; H Lochmüller; A Huebner
Journal:  J Med Genet       Date:  2004-11       Impact factor: 6.318

3.  Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility.

Authors:  Nicole Monnier; Renée Krivosic-Horber; Jean-François Payen; Geneviève Kozak-Ribbens; Yves Nivoche; Pascal Adnet; Hugo Reyford; Joël Lunardi
Journal:  Anesthesiology       Date:  2002-11       Impact factor: 7.892

4.  A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.

Authors:  P J Lynch; J Tong; M Lehane; A Mallet; L Giblin; J J Heffron; P Vaughan; G Zafra; D H MacLennan; T V McCarthy
Journal:  Proc Natl Acad Sci U S A       Date:  1999-03-30       Impact factor: 11.205

5.  Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations.

Authors:  Heinz Jungbluth; Mark R Davis; Clemens Müller; Serena Counsell; Joanna Allsop; Arijit Chattopadhyay; Sonia Messina; Eugenio Mercuri; Nigel G Laing; Caroline A Sewry; Graeme Bydder; Francesco Muntoni
Journal:  Neuromuscul Disord       Date:  2004-12       Impact factor: 4.296

6.  Pilot trial of salbutamol in central core and multi-minicore diseases.

Authors:  S Messina; L Hartley; M Main; M Kinali; H Jungbluth; F Muntoni; E Mercuri
Journal:  Neuropediatrics       Date:  2004-10       Impact factor: 1.947

7.  Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.

Authors:  L Fananapazir; M C Dalakas; F Cyran; G Cohn; N D Epstein
Journal:  Proc Natl Acad Sci U S A       Date:  1993-05-01       Impact factor: 11.205

8.  Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia.

Authors:  Norma Beatriz Romero; Nicole Monnier; Louis Viollet; Anne Cortey; Martine Chevallay; Jean Paul Leroy; Joël Lunardi; Michel Fardeau
Journal:  Brain       Date:  2003-08-22       Impact factor: 13.501

9.  Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

Authors:  M R Davis; E Haan; H Jungbluth; C Sewry; K North; F Muntoni; T Kuntzer; P Lamont; A Bankier; P Tomlinson; A Sánchez; P Walsh; L Nagarajan; C Oley; A Colley; A Gedeon; R Quinlivan; J Dixon; D James; C R Müller; N G Laing
Journal:  Neuromuscul Disord       Date:  2003-02       Impact factor: 4.296

10.  Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis.

Authors:  N Tilgen; F Zorzato; B Halliger-Keller; F Muntoni; C Sewry; L M Palmucci; C Schneider; E Hauser; F Lehmann-Horn; C R Müller; S Treves
Journal:  Hum Mol Genet       Date:  2001-12-01       Impact factor: 6.150
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  2 in total

1.  A chemical chaperone improves muscle function in mice with a RyR1 mutation.

Authors:  Chang Seok Lee; Amy D Hanna; Hui Wang; Adan Dagnino-Acosta; Aditya D Joshi; Mark Knoblauch; Yan Xia; Dimitra K Georgiou; Jianjun Xu; Cheng Long; Hisayuki Amano; Corey Reynolds; Keke Dong; John C Martin; William R Lagor; George G Rodney; Ergun Sahin; Caroline Sewry; Susan L Hamilton
Journal:  Nat Commun       Date:  2017-03-24       Impact factor: 14.919

2.  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
  2 in total

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