143 related articles for article (PubMed ID: 12874727)
1. X-linked centronuclear myopathy.
Fan HC; Lee CM; Harn HJ; Cheng SN; Yuh YS
Am J Perinatol; 2003 May; 20(4):173-9. PubMed ID: 12874727
[TBL] [Abstract][Full Text] [Related]
2. X-linked myotubular myopathy: report of a case with novel mutation.
Hortobágyi T; Szabó H; Kovács KS; Bódi I; Bereg E; Katona M; Biancalana V; Túri S; Sztriha L
J Child Neurol; 2007 Apr; 22(4):447-51. PubMed ID: 17621527
[TBL] [Abstract][Full Text] [Related]
3. Floppy infant caused by MTM1 mutation: a first genetically-confirmed X-linked myotubular myopathy patient in Thailand.
Liewluck T; Raksadawan N; Limwongse C; Nishino I; Sangruchi T
J Med Assoc Thai; 2006 Jan; 89(1):99-105. PubMed ID: 16583589
[TBL] [Abstract][Full Text] [Related]
4. Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.
Biancalana V; Caron O; Gallati S; Baas F; Kress W; Novelli G; D'Apice MR; Lagier-Tourenne C; Buj-Bello A; Romero NB; Mandel JL
Hum Genet; 2003 Feb; 112(2):135-42. PubMed ID: 12522554
[TBL] [Abstract][Full Text] [Related]
5. Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations.
Tosch V; Vasli N; Kretz C; Nicot AS; Gasnier C; Dondaine N; Oriot D; Barth M; Puissant H; Romero NB; Bönnemann CG; Heller B; Duval G; Biancalana V; Laporte J
Neuromuscul Disord; 2010 Jun; 20(6):375-81. PubMed ID: 20434914
[TBL] [Abstract][Full Text] [Related]
6. Centronuclear (myotubular) myopathy.
Jungbluth H; Wallgren-Pettersson C; Laporte J
Orphanet J Rare Dis; 2008 Sep; 3():26. PubMed ID: 18817572
[TBL] [Abstract][Full Text] [Related]
7. Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.
Buj-Bello A; Biancalana V; Moutou C; Laporte J; Mandel JL
Hum Mutat; 1999; 14(4):320-5. PubMed ID: 10502779
[TBL] [Abstract][Full Text] [Related]
8. [Myotubular myopathy].
Guiraud-Chaumeil C; Laporte J; Mandel JL; Warter JM
Rev Neurol (Paris); 2000 Nov; 156(11):960-4. PubMed ID: 11119047
[TBL] [Abstract][Full Text] [Related]
9. X-linked myotubular myopathy: mutation R69C identified in a family with multiple neonatal deaths.
Cox K; Gattas M; Harvey P; Dolphin C; Friend K; Yu S
Clin Genet; 2005 May; 67(5):441-2. PubMed ID: 15811014
[No Abstract] [Full Text] [Related]
10. Muscle biopsy without centrally located nuclei in a male child with mild X-linked myotubular myopathy.
de Goede CG; Kelsey A; Kingston H; Tomlin PI; Hughes MI
Dev Med Child Neurol; 2005 Dec; 47(12):835-7. PubMed ID: 16288675
[TBL] [Abstract][Full Text] [Related]
11. X-linked myotubular myopathy with probable germline mosaicism.
Menon K; Rao TV; Bhat BA; El Amin EO
Clin Neuropathol; 2002; 21(6):265-8. PubMed ID: 12489675
[TBL] [Abstract][Full Text] [Related]
12. [Myotubular myopathy. Case report and review of the literature].
Kovács SK; Korcsik J; Szabó H; Bódi I; Katona M; Bereg E; Endreffy E; Túri S; Hortobágyi T; Sztriha L
Orv Hetil; 2007 Sep; 148(37):1757-62. PubMed ID: 17827085
[TBL] [Abstract][Full Text] [Related]
13. Underdiagnosis of X-linked myotubular myopathy and other forms of centronuclear myopathy.
Foye PM
Neuromuscul Disord; 2007 Mar; 17(3):266. PubMed ID: 17306534
[No Abstract] [Full Text] [Related]
14. X-linked myotubular myopathy: anesthetic management for muscle biopsy.
Schmid E; Jöhr M; Berger TM
Paediatr Anaesth; 2006 Feb; 16(2):218-20. PubMed ID: 16430426
[No Abstract] [Full Text] [Related]
15. Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.
Bitoun M; Bevilacqua JA; Prudhon B; Maugenre S; Taratuto AL; Monges S; Lubieniecki F; Cances C; Uro-Coste E; Mayer M; Fardeau M; Romero NB; Guicheney P
Ann Neurol; 2007 Dec; 62(6):666-70. PubMed ID: 17932957
[TBL] [Abstract][Full Text] [Related]
16. Adult centronuclear myopathies: A hospital-based study.
Echaniz-Laguna A; Biancalana V; Böhm J; Tranchant C; Mandel JL; Laporte J
Rev Neurol (Paris); 2013; 169(8-9):625-31. PubMed ID: 23938035
[TBL] [Abstract][Full Text] [Related]
17. Severe neonatal centronuclear (myotubular) myopathy: an X-linked recessive disorder.
Bucher HU; Boltshauser E; Briner J; Gnehm HE; Janzer RC
Helv Paediatr Acta; 1986 Oct; 41(4):291-300. PubMed ID: 3793508
[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. 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]
20. [X-linked myotubular myopathy].
Nishino I
Ryoikibetsu Shokogun Shirizu; 2001; (35):418-20. PubMed ID: 11555972
[No Abstract] [Full Text] [Related]
[Next] [New Search]