Literature DB >> 19122038

A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation.

M Bitoun1, J A Bevilacqua, B Eymard, B Prudhon, M Fardeau, P Guicheney, N B Romero.   

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Year:  2009        PMID： 19122038     DOI： 10.1212/01.wnl.0000338624.25852.12

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  15 in total

1.  Isolation and Analysis of Mitochondrial Fission Enzyme DNM1 from Saccharomyces cerevisiae.

Authors:  Nolan W Kennedy; Lora K Picton; R Blake Hill
Journal:  Methods Mol Biol       Date:  2020

2.  Dynamins at a glance.

Authors:  Jürgen A W Heymann; Jenny E Hinshaw
Journal:  J Cell Sci       Date:  2009-10-01       Impact factor: 5.285

3.  Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations.

Authors:  F Hanisch; T Müller; A Dietz; M Bitoun; W Kress; J Weis; G Stoltenburg; S Zierz
Journal:  J Neurol       Date:  2011-01-09       Impact factor: 4.849

Review 4.  Regulation of dynamin family proteins by post-translational modifications.

Authors:  Usha P Kar; Himani Dey; Abdur Rahaman
Journal:  J Biosci       Date:  2017-06       Impact factor: 1.826

5.  Mice lacking microRNA 133a develop dynamin 2–dependent centronuclear myopathy.

Authors:  Ning Liu; Svetlana Bezprozvannaya; John M Shelton; Madlyn I Frisard; Matthew W Hulver; Ryan P McMillan; Yaru Wu; Kevin A Voelker; Robert W Grange; James A Richardson; Rhonda Bassel-Duby; Eric N Olson
Journal:  J Clin Invest       Date:  2011-08       Impact factor: 14.808

6.  Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Authors:  Johann Böhm; Valérie Biancalana; Elizabeth T Dechene; Marc Bitoun; Christopher R Pierson; Elise Schaefer; Hatice Karasoy; Melissa A Dempsey; Fabrice Klein; Nicolas Dondaine; Christine Kretz; Nicolas Haumesser; Claire Poirson; Anne Toussaint; Rebecca S Greenleaf; Melissa A Barger; Lane J Mahoney; Peter B Kang; Edmar Zanoteli; John Vissing; Nanna Witting; Andoni Echaniz-Laguna; Carina Wallgren-Pettersson; James Dowling; Luciano Merlini; Anders Oldfors; Lilian Bomme Ousager; Judith Melki; Amanda Krause; Christina Jern; Acary S B Oliveira; Florence Petit; Aurélia Jacquette; Annabelle Chaussenot; David Mowat; Bruno Leheup; Michele Cristofano; Juan José Poza Aldea; Fabrice Michel; Alain Furby; Jose E Barcena Llona; Rudy Van Coster; Enrico Bertini; Jon Andoni Urtizberea; Valérie Drouin-Garraud; Christophe Béroud; Bernard Prudhon; Melanie Bedford; Katherine Mathews; Lori A H Erby; Stephen A Smith; Jennifer Roggenbuck; Carol A Crowe; Allison Brennan Spitale; Sheila C Johal; Anthony A Amato; Laurie A Demmer; Jessica Jonas; Basil T Darras; Thomas D Bird; Mercy Laurino; Selman I Welt; Cynthia Trotter; Pascale Guicheney; Soma Das; Jean-Louis Mandel; Alan H Beggs; Jocelyn Laporte
Journal:  Hum Mutat       Date:  2012-04-04       Impact factor: 4.878

Review 7.  Congenital myopathies: an update.

Authors:  Jessica R Nance; James J Dowling; Elizabeth M Gibbs; Carsten G Bönnemann
Journal:  Curr Neurol Neurosci Rep       Date:  2012-04       Impact factor: 5.081

Review 8.  Dynamin 2 and human diseases.

Authors:  Anne-Cécile Durieux; Bernard Prudhon; Pascale Guicheney; Marc Bitoun
Journal:  J Mol Med (Berl)       Date:  2010-02-03       Impact factor: 4.599

Review 9.  Defective membrane remodeling in neuromuscular diseases: insights from animal models.

Authors:  Belinda S Cowling; Anne Toussaint; Jean Muller; Jocelyn Laporte
Journal:  PLoS Genet       Date:  2012-04-05       Impact factor: 5.917

10.  Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort.

Authors:  Michela Catteruccia; Fabiana Fattori; Valentina Codemo; Lucia Ruggiero; Lorenzo Maggi; Giorgio Tasca; Chiara Fiorillo; Marika Pane; Angela Berardinelli; Margherita Verardo; Cinzia Bragato; Marina Mora; Lucia Morandi; Claudio Bruno; Lucio Santoro; Elena Pegoraro; Eugenio Mercuri; Enrico Bertini; Adele D'Amico
Journal:  Neuromuscul Disord       Date:  2013-02-08       Impact factor: 4.296
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