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2. 45th ENMC Workshop: Myotubular Myopathy. 13-15th September 1996, Naarden, The Netherlands. Wallgren-Pettersson C; Thomas N Neuromuscul Disord; 1997 Jun; 7(4):268-71. PubMed ID: 9196910 [No Abstract] [Full Text] [Related]
3. 118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy). Bertini E; Biancalana V; Bolino A; Buj Bello A; Clague M; Guicheney P; Jungbluth H; Kress W; Musaro' A; Nandurkar H; Pirola L; Romero N; Senderek J; Suter U; Sewry C; Tronchere H; Wallgren-Pettersson C; Wishart MJ; Laporte J Neuromuscul Disord; 2004 Jun; 14(6):387-96. PubMed ID: 15145343 [No Abstract] [Full Text] [Related]
4. A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy. Guiraud-Chaumeil C; Vincent MC; Laporte J; Fardeau M; Samson F; Mandel JL Am J Hum Genet; 1997 Jun; 60(6):1542-4. PubMed ID: 9199578 [No Abstract] [Full Text] [Related]
5. Structural congenital myopathies (excluding nemaline myopathy, myotubular myopathy and desminopathies): 56th European Neuromuscular Centre (ENMC) sponsored International Workshop. December 12-14, 1997, Naarden, The Netherlands. Goebel HH; Anderson JR Neuromuscul Disord; 1999 Jan; 9(1):50-7. PubMed ID: 10063836 [No Abstract] [Full Text] [Related]
6. [X-linked recessive myotubular myopathy with a splice-site mutation in the myotubularin gene]. Watanabe T; Watanabe M; Saito T; Higashitani A; Tanaka S; Nishino I; Nonaka I No To Hattatsu; 1998 Nov; 30(6):523-7. PubMed ID: 9844418 [TBL] [Abstract][Full Text] [Related]
7. MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy. Nishino I; Minami N; Kobayashi O; Ikezawa M; Goto Y; Arahata K; Nonaka I Neuromuscul Disord; 1998 Oct; 8(7):453-8. PubMed ID: 9829274 [TBL] [Abstract][Full Text] [Related]
9. Muscle fiber immaturity and inactivity reduce myonecrosis in Duchenne muscular dystrophy. Kimura S; Sugino S; Ohtani Y; Matsukura M; Nishino I; Ikezawa M; Sakata A; Kondo Y; Yoshioka K; Huard J; Nonaka I; Miike T Ann Neurol; 1998 Dec; 44(6):967-71. PubMed ID: 9851444 [TBL] [Abstract][Full Text] [Related]
10. 182nd ENMC International Workshop: RYR1-related myopathies, 15-17th April 2011, Naarden, The Netherlands. Jungbluth H; Dowling JJ; Ferreiro A; Muntoni F Neuromuscul Disord; 2012 May; 22(5):453-62. PubMed ID: 22226685 [No Abstract] [Full Text] [Related]
11. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Laporte J; Hu LJ; Kretz C; Mandel JL; Kioschis P; Coy JF; Klauck SM; Poustka A; Dahl N Nat Genet; 1996 Jun; 13(2):175-82. PubMed ID: 8640223 [TBL] [Abstract][Full Text] [Related]
12. Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands. Pepe G; Bertini E; Bonaldo P; Bushby K; Giusti B; de Visser M; Guicheney P; Lattanzi G; Merlini L; Muntoni F; Nishino I; Nonaka I; Yaou RB; Sabatelli P; Sewry C; Topaloglu H; van der Kooi A Neuromuscul Disord; 2002 Dec; 12(10):984-93. PubMed ID: 12467756 [No Abstract] [Full Text] [Related]
13. Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center. Laporte J; Guiraud-Chaumeil C; Vincent MC; Mandel JL; Tanner SM; Liechti-Gallati S; Wallgren-Pettersson C; Dahl N; Kress W; Bolhuis PA; Fardeau M; Samson F; Bertini E Hum Mol Genet; 1997 Sep; 6(9):1505-11. PubMed ID: 9305655 [TBL] [Abstract][Full Text] [Related]
14. Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother. Tanner SM; Orstavik KH; Kristiansen M; Lev D; Lerman-Sagie T; Sadeh M; Liechti-Gallati S Hum Genet; 1999 Mar; 104(3):249-53. PubMed ID: 10323249 [TBL] [Abstract][Full Text] [Related]
15. Report on the 20th ENMC sponsored international workshop: myotubular/centronuclear myopathy. Wallgren-Pettersson C; Thomas NS Neuromuscul Disord; 1994 Jan; 4(1):71-4. PubMed ID: 8173354 [No Abstract] [Full Text] [Related]
16. A novel mutation (R271X) in the myotubularin gene causes a severe miotubular myopathy. De Luca A; Torrente I; Mangino M; Bertini E; Dallapiccola B; Novelli G Hum Hered; 1999 Jan; 49(1):59-60. PubMed ID: 9858861 [TBL] [Abstract][Full Text] [Related]
17. Medical complications in long-term survivors with X-linked myotubular myopathy. Herman GE; Finegold M; Zhao W; de Gouyon B; Metzenberg A J Pediatr; 1999 Feb; 134(2):206-14. PubMed ID: 9931531 [TBL] [Abstract][Full Text] [Related]
18. Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients. Tanner SM; Schneider V; Thomas NS; Clarke A; Lazarou L; Liechti-Gallati S Neuromuscul Disord; 1999 Jan; 9(1):41-9. PubMed ID: 10063835 [TBL] [Abstract][Full Text] [Related]
19. A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy. Mutation in brief no. 125. Online. Donnelly A; Haan E; Manson J; Mulley J Hum Mutat; 1998; 11(4):334. PubMed ID: 10215413 [TBL] [Abstract][Full Text] [Related]