Literature DB >> 11731287

80th ENMC International Workshop on Multi-Minicore Disease: 1st International MmD Workshop. 12-13th May, 2000, Soestduinen, The Netherlands.

Ana Ferreiro1, Michel Fardeau.   

Abstract

Mesh：

Year:  2002        PMID： 11731287     DOI： 10.1016/s0960-8966(01)00237-1

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


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  5 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.  Congenital myopathies.

Authors:  Claudio Bruno; Carlo Minetti
Journal:  Curr Neurol Neurosci Rep       Date:  2004-01       Impact factor: 5.081

3.  Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.

Authors:  Ana Ferreiro; Susana Quijano-Roy; Claire Pichereau; Behzad Moghadaszadeh; Nathalie Goemans; Carsten Bönnemann; Heinz Jungbluth; Volker Straub; Marcello Villanova; Jean-Paul Leroy; Norma B Romero; Jean-Jacques Martin; Francesco Muntoni; Thomas Voit; Brigitte Estournet; Pascale Richard; Michel Fardeau; Pascale Guicheney
Journal:  Am J Hum Genet       Date:  2002-08-21       Impact factor: 11.025

Review 4.  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

5.  Core myopathies - a short review.

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

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