Literature DB >> 22009146

Clinical utility gene card for: Multi-minicore disease.

Suzanne Lillis1, Steve Abbs, Ana Ferreiro, Francesco Muntoni, Heinz Jungbluth.   

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Year:  2011        PMID： 22009146      PMCID： PMC3260928          DOI： 10.1038/ejhg.2011.180

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


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  32 in total

1.  Genotype-phenotype comparison of the Swiss malignant hyperthermia population.

Authors:  T Girard; A Urwyler; K Censier; C R Mueller; F Zorzato; S Treves
Journal:  Hum Mutat       Date:  2001-10       Impact factor: 4.878

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

Authors:  Heinz Jungbluth; 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
Journal:  Neuromuscul Disord       Date:  2004-11       Impact factor: 4.296

4.  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

5.  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

6.  Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.

Authors:  H Jungbluth; H Zhou; L Hartley; B Halliger-Keller; S Messina; C Longman; M Brockington; S A Robb; V Straub; T Voit; M Swash; A Ferreiro; G Bydder; C A Sewry; C Müller; F Muntoni
Journal:  Neurology       Date:  2005-12-27       Impact factor: 9.910

7.  A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia.

Authors:  Nicole Monnier; Ana Ferreiro; Isabelle Marty; Annick Labarre-Vila; Paulette Mezin; Joel Lunardi
Journal:  Hum Mol Genet       Date:  2003-05-15       Impact factor: 6.150

8.  A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy.

Authors:  Valérie Allamand; Pascale Richard; Alain Lescure; Céline Ledeuil; Delphine Desjardin; Nathalie Petit; Corine Gartioux; Ana Ferreiro; Alain Krol; Nadine Pellegrini; J Andoni Urtizberea; Pascale Guicheney
Journal:  EMBO Rep       Date:  2006-02-24       Impact factor: 8.807

9.  A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene.

Authors:  Ana Ferreiro; Nicole Monnier; Norma B Romero; Jean-Paul Leroy; Carsten Bönnemann; Charles-Antoine Haenggeli; Volker Straub; Wolfgang D Voss; Yves Nivoche; Heinz Jungbluth; Arnaud Lemainque; Thomas Voit; Joël Lunardi; Michel Fardeau; Pascale Guicheney
Journal:  Ann Neurol       Date:  2002-06       Impact factor: 10.422

10.  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
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  2 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.  Monovalent cationic channel activity in the inner membrane of nuclei from skeletal muscle fibers.

Authors:  Viktor Yarotskyy; Robert T Dirksen
Journal:  Biophys J       Date:  2014-11-04       Impact factor: 4.033
  2 in total

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