Literature DB >> 22617344

Clinical utility gene card for: Centronuclear and myotubular myopathies.

Valérie Biancalana1, Alan H Beggs, Soma Das, Heinz Jungbluth, Wolfram Kress, Ichizo Nishino, Kathryn North, Norma B Romero, Jocelyn Laporte.   

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Year:  2012        PMID： 22617344      PMCID： PMC3449068          DOI： 10.1038/ejhg.2012.91

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


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  38 in total

1.  Prevalence of congenital myopathies in a representative pediatric united states population.

Authors:  Kimberly Amburgey; Nancy McNamara; Lindsey R Bennett; M Eileen McCormick; Gyula Acsadi; James J Dowling
Journal:  Ann Neurol       Date:  2011-10       Impact factor: 10.422

2.  Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation.

Authors:  K G Claeys; T Maisonobe; J Böhm; J Laporte; M Hezode; N B Romero; G Brochier; M Bitoun; R Y Carlier; T Stojkovic
Journal:  Neurology       Date:  2010-02-09       Impact factor: 9.910

3.  Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations.

Authors:  Valérie Tosch; Nasim Vasli; Christine Kretz; Anne-Sophie Nicot; Claire Gasnier; Nicolas Dondaine; Denis Oriot; Magalie Barth; Hugues Puissant; Norma B Romero; Carsten G Bönnemann; Betty Heller; Gilles Duval; Valérie Biancalana; Jocelyn Laporte
Journal:  Neuromuscul Disord       Date:  2010-06       Impact factor: 4.296

Review 4.  Centronuclear myopathies: a widening concept.

Authors:  Norma Beatriz Romero
Journal:  Neuromuscul Disord       Date:  2010-02-23       Impact factor: 4.296

5.  RYR1 mutations are a common cause of congenital myopathies with central nuclei.

Authors:  J M Wilmshurst; S Lillis; H Zhou; K Pillay; H Henderson; W Kress; C R Müller; A Ndondo; V Cloke; T Cullup; E Bertini; C Boennemann; V Straub; R Quinlivan; J J Dowling; S Al-Sarraj; S Treves; S Abbs; A Y Manzur; C A Sewry; F Muntoni; Heinz Jungbluth
Journal:  Ann Neurol       Date:  2010-11       Impact factor: 10.422

6.  Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.

Authors:  Rachel D Susman; Susana Quijano-Roy; Nan Yang; Richard Webster; Nigel F Clarke; Jim Dowling; Marina Kennerson; Garth Nicholson; Valerie Biancalana; Biljana Ilkovski; Kevin M Flanigan; Susan Arbuckle; Chandra Malladi; Phillip Robinson; Steven Vucic; Michèle Mayer; Norma B Romero; Jon Andoni Urtizberea; Federico García-Bragado; Pascale Guicheney; Marc Bitoun; Robert-Yves Carlier; Kathryn N North
Journal:  Neuromuscul Disord       Date:  2010-03-12       Impact factor: 4.296

7.  Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.

Authors:  J A Bevilacqua; N Monnier; M Bitoun; B Eymard; A Ferreiro; S Monges; F Lubieniecki; A L Taratuto; A Laquerrière; K G Claeys; I Marty; M Fardeau; P Guicheney; J Lunardi; N B Romero
Journal:  Neuropathol Appl Neurobiol       Date:  2011-04       Impact factor: 8.090

8.  Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis.

Authors:  Marc Bitoun; Anne-Cécile Durieux; Bernard Prudhon; Jorge A Bevilacqua; Adrien Herledan; Vehary Sakanyan; Andoni Urtizberea; Luis Cartier; Norma B Romero; Pascale Guicheney
Journal:  Hum Mutat       Date:  2009-10       Impact factor: 4.878

9.  "Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.

Authors:  Jorge A Bevilacqua; Marc Bitoun; Valérie Biancalana; Anders Oldfors; Gisela Stoltenburg; Kristl G Claeys; Emmanuelle Lacène; Guy Brochier; Linda Manéré; Pascal Laforêt; Bruno Eymard; Pascale Guicheney; Michel Fardeau; Norma Beatriz Romero
Journal:  Acta Neuropathol       Date:  2008-12-16       Impact factor: 17.088

Review 10.  Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation.

Authors:  Johann Böhm; Uluç Yiş; Ragıp Ortaç; Handan Cakmakçı; Semra Hız Kurul; Eray Dirik; Jocelyn Laporte
Journal:  Orphanet J Rare Dis       Date:  2010-12-03       Impact factor: 4.123
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  13 in total

1.  The intragenic microRNA miR199A1 in the dynamin 2 gene contributes to the pathology of X-linked centronuclear myopathy.

Authors:  Xin Chen; Yun-Qian Gao; Yan-Yan Zheng; Wei Wang; Pei Wang; Juan Liang; Wei Zhao; Tao Tao; Jie Sun; Lisha Wei; Yeqiong Li; Yuwei Zhou; Zhenji Gan; Xuena Zhang; Hua-Qun Chen; Min-Sheng Zhu
Journal:  J Biol Chem       Date:  2020-04-29       Impact factor: 5.157

2.  Long-term effects of systemic gene therapy in a canine model of myotubular myopathy.

Authors:  Matthew Elverman; Melissa A Goddard; David Mack; Jessica M Snyder; Michael W Lawlor; Hui Meng; Alan H Beggs; Ana Buj-Bello; Karine Poulard; Anthony P Marsh; Robert W Grange; Valerie E Kelly; Martin K Childers
Journal:  Muscle Nerve       Date:  2017-05-22       Impact factor: 3.217

3.  Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.

Authors:  Jorge Oliveira; Márcia E Oliveira; Wolfram Kress; Ricardo Taipa; Manuel Melo Pires; Pascale Hilbert; Peter Baxter; Manuela Santos; Henk Buermans; Johan T den Dunnen; Rosário Santos
Journal:  Eur J Hum Genet       Date:  2012-09-12       Impact factor: 4.246

Review 4.  Triadopathies: an emerging class of skeletal muscle diseases.

Authors:  James J Dowling; Michael W Lawlor; Robert T Dirksen
Journal:  Neurotherapeutics       Date:  2014-10       Impact factor: 7.620

5.  Muscle pathology, limb strength, walking gait, respiratory function and neurological impairment establish disease progression in the p.N155K canine model of X-linked myotubular myopathy.

Authors:  Melissa A Goddard; David L Mack; Stefan M Czerniecki; Valerie E Kelly; Jessica M Snyder; Robert W Grange; Michael W Lawlor; Barbara K Smith; Alan H Beggs; Martin K Childers
Journal:  Ann Transl Med       Date:  2015-10

Review 6.  Gene therapy in monogenic congenital myopathies.

Authors:  Xuan Guan; Melissa A Goddard; David L Mack; Martin K Childers
Journal:  Methods       Date:  2015-10-14       Impact factor: 3.608

7.  Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.

Authors:  Ozge Ceyhan-Birsoy; Pankaj B Agrawal; Carlos Hidalgo; Klaus Schmitz-Abe; Elizabeth T DeChene; Lindsay C Swanson; Rachel Soemedi; Nasim Vasli; Susan T Iannaccone; Perry B Shieh; Natasha Shur; Jane M Dennison; Michael W Lawlor; Jocelyn Laporte; Kyriacos Markianos; William G Fairbrother; Henk Granzier; Alan H Beggs
Journal:  Neurology       Date:  2013-08-23       Impact factor: 9.910

8.  mRNA distribution in skeletal muscle is associated with mRNA size.

Authors:  Helena Pinheiro; Mafalda Ramos Pimentel; Catarina Sequeira; Luís Manuel Oliveira; Anna Pezzarossa; William Roman; Edgar R Gomes
Journal:  J Cell Sci       Date:  2021-07-23       Impact factor: 5.285

9.  X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene.

Authors:  G Diane Shelton; Branden E Rider; Georgina Child; Sophia Tzannes; Ling T Guo; Behzad Moghadaszadeh; Emily C Troiano; Bianca Haase; Claire M Wade; Alan H Beggs
Journal:  Skelet Muscle       Date:  2015-01-27       Impact factor: 4.912

10.  Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

Authors:  Fabiana Fattori; Lorenzo Maggi; Claudio Bruno; Denise Cassandrini; Valentina Codemo; Michela Catteruccia; Giorgio Tasca; Angela Berardinelli; Francesca Magri; Marika Pane; Anna Rubegni; Lucio Santoro; Lucia Ruggiero; Patrizio Fiorini; Antonella Pini; Tiziana Mongini; Sonia Messina; Giacomo Brisca; Irene Colombo; Guja Astrea; Chiara Fiorillo; Cinzia Bragato; Isabella Moroni; Elena Pegoraro; Maria Rosaria D'Apice; Enrico Alfei; Marina Mora; Lucia Morandi; Alice Donati; Anni Evilä; Anna Vihola; Bjarne Udd; Pia Bernansconi; Eugenio Mercuri; Filippo Maria Santorelli; Enrico Bertini; Adele D'Amico
Journal:  J Neurol       Date:  2015-05-10       Impact factor: 4.849
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