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Acta Neuropathologica, ISSN 0001-6322, 2017, Volume 134, Issue 6, pp. 889 - 904
Journal Article
by Schartner, Vanessa and Schartner, Vanessa and Romero, Norma B and Romero, Norma B and Donkervoort, Sandra and Donkervoort, Sandra and Treves, Susan and Treves, Susan and Munot, Pinki and Munot, Pinki and Pierson, Tyler Mark and Pierson, Tyler Mark and Dabaj, Ivana and Dabaj, Ivana and Malfatti, Edoardo and Malfatti, Edoardo and Zaharieva, Irina T and Zaharieva, Irina T and Zorzato, Francesco and Zorzato, Francesco and Abath Neto, Osorio and Abath Neto, Osorio and Brochier, Guy and Brochier, Guy and Lornage, Xavière and Lornage, Xavière and Eymard, Bruno and Eymard, Bruno and Taratuto, Ana Lía and Taratuto, Ana Lía and Böhm, Johann and Böhm, Johann and Gonorazky, Hernan and Gonorazky, Hernan and Ramos-Platt, Leigh and Ramos-Platt, Leigh and Feng, Lucy and Feng, Lucy and Phadke, Rahul and Phadke, Rahul and Bharucha-Goebel, Diana X and Bharucha-Goebel, Diana X and Sumner, Charlotte Jane and Sumner, Charlotte Jane and Bui, Mai Thao and Bui, Mai Thao and Lacene, Emmanuelle and Lacene, Emmanuelle and Beuvin, Maud and Beuvin, Maud and Labasse, Clémence and Labasse, Clémence and Dondaine, Nicolas and Dondaine, Nicolas and Schneider, Raphael and Schneider, Raphael and Thompson, Julie and Thompson, Julie and Boland, Anne and Boland, Anne and Deleuze, Jean-François and Deleuze, Jean-François and Matthews, Emma and Matthews, Emma and Pakleza, Aleksandra Nadaj and Pakleza, Aleksandra Nadaj and Sewry, Caroline A and Sewry, Caroline A and Biancalana, Valérie and Biancalana, Valérie and Quijano-Roy, Susana and Quijano-Roy, Susana and Muntoni, Francesco and Muntoni, Francesco and Fardeau, Michel and Fardeau, Michel and Bönnemann, Carsten G and Bönnemann, Carsten G and Laporte, Jocelyn and Laporte, Jocelyn
Acta Neuropathologica, ISSN 0001-6322, 4/2017, Volume 133, Issue 4, pp. 517 - 533
Journal Article
Human Mutation, ISSN 1059-7794, 12/2018, Volume 39, Issue 12, pp. 1980 - 1994
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2017, Volume 27, Issue 11, pp. 975 - 985
Journal Article
Genetics and Molecular Biology, ISSN 1415-4757, 2015, Volume 38, Issue 2, pp. 147 - 151
Centronuclear myopathy (CNM) is a rare congenital muscle disease characterized by fibers with prominent centralized nuclei in muscle biopsies. The disease is... 
Congenital myopathy | Centronuclear myopathy | Dynamin 2 | DNM2 | centronuclear myopathy | dynamin 2 | NUCLEI | RYR1 MUTATIONS | GENE | PHOSPHATASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | PHENOTYPE | ONSET | congenital myopathy | Human and Medical Genetics
Journal Article
Arquivos de neuro-psiquiatria, ISSN 0004-282X, 01/2017, Volume 75, Issue 1, pp. 72 - 73
GNE myopathy (MIM#605820) is a rare autosomal recessive disorder with a higher prevalence in individuals with Middle Eastern or Japanese ancestries1. We... 
Rare Diseases - genetics | Young Adult | Distal Myopathies - genetics | Biopsy | Distal Myopathies - pathology | Humans | Brazil | Female | Rare Diseases - pathology
Journal Article
Pediatric Neurology, ISSN 0887-8994, 2016
Abstract Background Myotubular myopathy is a rare X-linked congenital myopathy characterized by marked neonatal hypotonia and respiratory insufficiency, facial... 
Pediatrics | Neurology
Journal Article
PLoS ONE, 10/2014, Volume 9, Issue 10
Inherited myopathies are a heterogeneous group of disabling disorders with still barely understood pathological mechanisms. Around 40% of afflicted patients... 
Journal Article
Journal Article