Literature DB >> 12117485

Workshop report of the 89th ENMC International Workshop: Central Core Disease, 19th-20th January 2001, Hilversum, The Netherlands.

Harald De Cauwer1, Luc Heytens, Jean-Jacques Martin.   

Abstract

Mesh：

Year:  2002        PMID： 12117485     DOI： 10.1016/s0960-8966(02)00002-0

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


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  8 in total

Review 1.  Diagnostics and therapy of muscle channelopathies--Guidelines of the Ulm Muscle Centre.

Authors:  F Lehmann-Horn; K Jurkat-Rott; R Rüdel
Journal:  Acta Myol       Date:  2008-12

2.  Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.

Authors:  John Rendu; Julie Brocard; Eric Denarier; Nicole Monnier; France Piétri-Rouxel; Cyriaque Beley; Nathalie Roux-Buisson; Brigitte Gilbert-Dussardier; Marie José Perez; Norma Romero; Luis Garcia; Joël Lunardi; Julien Fauré; Anne Fourest-Lieuvin; Isabelle Marty
Journal:  Hum Gene Ther       Date:  2013-07       Impact factor: 5.695

Review 3.  Congenital myopathies.

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

4.  Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods.

Authors:  Elena Zvaritch; Natasha Kraeva; Eric Bombardier; Robert A McCloy; Frederic Depreux; Douglas Holmyard; Alexander Kraev; Christine E Seidman; J G Seidman; A Russell Tupling; David H MacLennan
Journal:  Proc Natl Acad Sci U S A       Date:  2009-12-03       Impact factor: 11.205

Review 5.  Congenital myopathies.

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

6.  Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein.

Authors:  Marine Cacheux; Ariane Blum; Muriel Sébastien; Anne Sophie Wozny; Julie Brocard; Kamel Mamchaoui; Vincent Mouly; Nathalie Roux-Buisson; John Rendu; Nicole Monnier; Renée Krivosic; Paul Allen; Arnaud Lacour; Joël Lunardi; Julien Fauré; Isabelle Marty
Journal:  J Neuromuscul Dis       Date:  2015-11-20

Review 7.  Congenital myopathies: clinical phenotypes and new diagnostic tools.

Authors:  Denise Cassandrini; Rosanna Trovato; Anna Rubegni; Sara Lenzi; Chiara Fiorillo; Jacopo Baldacci; Carlo Minetti; Guja Astrea; Claudio Bruno; Filippo M Santorelli
Journal:  Ital J Pediatr       Date:  2017-11-15       Impact factor: 2.638

8.  Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.

Authors:  Aurora Fusto; Denise Cassandrini; Claudio Bruno; Elena Pegoraro; Chiara Fiorillo; Valentina Codemo; Guja Astrea; Adele D'Amico; Lorenzo Maggi; Francesca Magri; Marika Pane; Giorgio Tasca; Daniele Sabbatini; Luca Bello; Roberta Battini; Pia Bernasconi; Fabiana Fattori; Enrico Silvio Bertini; Giacomo Comi; Sonia Messina; Tiziana Mongini; Isabella Moroni; Chiara Panicucci; Angela Berardinelli; Alice Donati; Vincenzo Nigro; Antonella Pini; Melania Giannotta; Claudia Dosi; Enzo Ricci; Eugenio Mercuri; Giovanni Minervini; Silvio Tosatto; Filippo Santorelli
Journal:  Acta Neuropathol Commun       Date:  2022-04-15       Impact factor: 7.578
  8 in total

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