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6. Characterization and genetic diagnosis of centronuclear myopathies in seven Chinese patients. Zhao Y; Zhao Z; Shen H; Bing Q; Hu J Neurol Sci; 2018 Dec; 39(12):2043-2051. PubMed ID: 30232666 [TBL] [Abstract][Full Text] [Related]
7. Different in vivo impacts of dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or centronuclear myopathy. Massana Muñoz X; Buono S; Koebel P; Laporte J; Cowling BS Hum Mol Genet; 2019 Dec; 28(24):4067-4077. PubMed ID: 31628461 [TBL] [Abstract][Full Text] [Related]
8. Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes. Silva-Rojas R; Nattarayan V; Jaque-Fernandez F; Gomez-Oca R; Menuet A; Reiss D; Goret M; Messaddeq N; Lionello VM; Kretz C; Cowling BS; Jacquemond V; Laporte J Mol Ther; 2022 Feb; 30(2):868-880. PubMed ID: 34371181 [TBL] [Abstract][Full Text] [Related]
9. Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations. Bachmann C; Jungbluth H; Muntoni F; Manzur AY; Zorzato F; Treves S Hum Mol Genet; 2017 Jan; 26(2):320-332. PubMed ID: 28007904 [TBL] [Abstract][Full Text] [Related]
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11. Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies. Toussaint A; Cowling BS; Hnia K; Mohr M; Oldfors A; Schwab Y; Yis U; Maisonobe T; Stojkovic T; Wallgren-Pettersson C; Laugel V; Echaniz-Laguna A; Mandel JL; Nishino I; Laporte J Acta Neuropathol; 2011 Feb; 121(2):253-66. PubMed ID: 20927630 [TBL] [Abstract][Full Text] [Related]
12. Centronuclear myopathies: a widening concept. Romero NB Neuromuscul Disord; 2010 Apr; 20(4):223-8. PubMed ID: 20181480 [TBL] [Abstract][Full Text] [Related]
13. Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation. Liewluck T; Lovell TL; Bite AV; Engel AG Neuromuscul Disord; 2010 Dec; 20(12):801-4. PubMed ID: 20817456 [TBL] [Abstract][Full Text] [Related]
14. Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model. Li Q; Lin J; Widrick JJ; Luo S; Li G; Zhang Y; Laporte J; Perrella MA; Liu X; Agrawal PB JCI Insight; 2022 Aug; 7(15):. PubMed ID: 35763354 [TBL] [Abstract][Full Text] [Related]
15. Multi-omics comparisons of different forms of centronuclear myopathies and the effects of several therapeutic strategies. Djeddi S; Reiss D; Menuet A; Freismuth S; de Carvalho Neves J; Djerroud S; Massana-Muñoz X; Sosson AS; Kretz C; Raffelsberger W; Keime C; Dorchies OM; Thompson J; Laporte J Mol Ther; 2021 Aug; 29(8):2514-2534. PubMed ID: 33940157 [TBL] [Abstract][Full Text] [Related]
16. Muscle-specific function of the centronuclear myopathy and Charcot-Marie-Tooth neuropathy-associated dynamin 2 is required for proper lipid metabolism, mitochondria, muscle fibers, neuromuscular junctions and peripheral nerves. Tinelli E; Pereira JA; Suter U Hum Mol Genet; 2013 Nov; 22(21):4417-29. PubMed ID: 23813975 [TBL] [Abstract][Full Text] [Related]
17. Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model. Fongy A; Falcone S; Lainé J; Prudhon B; Martins-Bach A; Bitoun M Sci Rep; 2019 Feb; 9(1):1580. PubMed ID: 30733559 [TBL] [Abstract][Full Text] [Related]
18. "Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy. Bevilacqua JA; Bitoun M; Biancalana V; Oldfors A; Stoltenburg G; Claeys KG; Lacène E; Brochier G; Manéré L; Laforêt P; Eymard B; Guicheney P; Fardeau M; Romero NB Acta Neuropathol; 2009 Mar; 117(3):283-91. PubMed ID: 19084976 [TBL] [Abstract][Full Text] [Related]
19. A novel mutation in the DNM2 gene impairs dynamin 2 localization in skeletal muscle of a patient with late onset centronuclear myopathy. Kierdaszuk B; Berdynski M; Karolczak J; Redowicz MJ; Zekanowski C; Kaminska AM Neuromuscul Disord; 2013 Mar; 23(3):219-28. PubMed ID: 23374900 [TBL] [Abstract][Full Text] [Related]
20. Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice. Danièle N; Moal C; Julien L; Marinello M; Jamet T; Martin S; Vignaud A; Lawlor MW; Buj-Bello A J Neuropathol Exp Neurol; 2018 Apr; 77(4):282-295. PubMed ID: 29408998 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]