Literature DB >> 15482962

111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The Netherlands.

Heinz Jungbluth1, Alan Beggs, Carsten Bönnemann, Kate Bushby, Chantal Ceuterick-de Groote, Brigitte Estournet-Mathiaud, Nathalie Goemans, Pascale Guicheney, Alain Lescure, Joël Lunardi, Francesco Muntoni, Ros Quinlivan, Caroline Sewry, Volker Straub, Susan Treves, Ana Ferreiro.   

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Year:  2004        PMID: 15482962     DOI: 10.1016/j.nmd.2004.07.007

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN: 0960-8966            Impact factor:   4.296


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  9 in total

1.  Clinical utility gene card for: Multi-minicore disease.

Authors:  Suzanne Lillis; Steve Abbs; Ana Ferreiro; Francesco Muntoni; Heinz Jungbluth
Journal:  Eur J Hum Genet       Date:  2011-10-19       Impact factor: 4.246

2.  Basal bioenergetic abnormalities in skeletal muscle from ryanodine receptor malignant hyperthermia-susceptible R163C knock-in mice.

Authors:  Cecilia Giulivi; Catherine Ross-Inta; Alicja Omanska-Klusek; Eleonora Napoli; Danielle Sakaguchi; Genaro Barrientos; Paul D Allen; Isaac N Pessah
Journal:  J Biol Chem       Date:  2010-10-26       Impact factor: 5.157

3.  Identification of Potential Biomarkers for Ryanodine Receptor 1 (RYR1) Mutation-Associated Myopathies Using Bioinformatics Approach.

Authors:  Xi Wang; Chang Kong; Pan Liu; Wujun Geng; Hongli Tang
Journal:  Dis Markers       Date:  2022-05-23       Impact factor: 3.464

Review 4.  Congenital myopathies.

Authors:  Adele D'Amico; Enrico Bertini
Journal:  Curr Neurol Neurosci Rep       Date:  2008-01       Impact factor: 5.081

Review 5.  Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies.

Authors:  N C Voermans; C G Bonnemann; B C J Hamel; H Jungbluth; B G van Engelen
Journal:  J Neurol       Date:  2009-02-09       Impact factor: 4.849

Review 6.  Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.

Authors:  Tokunbor A Lawal; Joshua J Todd; Jessica W Witherspoon; Carsten G Bönnemann; James J Dowling; Susan L Hamilton; Katherine G Meilleur; Robert T Dirksen
Journal:  Skelet Muscle       Date:  2020-11-16       Impact factor: 4.912

7.  Core myopathies - a short review.

Authors:  Haluk Topaloglu
Journal:  Acta Myol       Date:  2020-12-01

Review 8.  Central core disease.

Authors:  Heinz Jungbluth
Journal:  Orphanet J Rare Dis       Date:  2007-05-15       Impact factor: 4.123

Review 9.  Multi-minicore Disease.

Authors:  Heinz Jungbluth
Journal:  Orphanet J Rare Dis       Date:  2007-07-13       Impact factor: 4.123

  9 in total

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