BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

270 related articles for article (PubMed ID: 17827085)

  • 1. [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]  

  • 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. 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]  

  • 4. X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation.
    Schara U; Kress W; Tücke J; Mortier W
    Neurology; 2003 Apr; 60(8):1363-5. PubMed ID: 12707446
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation.
    Jungbluth H; Sewry CA; Buj-Bello A; Kristiansen M; Ørstavik KH; Kelsey A; Manzur AY; Mercuri E; Wallgren-Pettersson C; Muntoni F
    Neuromuscul Disord; 2003 Jan; 13(1):55-9. PubMed ID: 12467733
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10.
    Trump N; Cullup T; Verheij JB; Manzur A; Muntoni F; Abbs S; Jungbluth H
    Neuromuscul Disord; 2012 May; 22(5):384-8. PubMed ID: 22153990
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A double mutation in a patient with X-linked myotubular myopathy.
    Tachi N; Kozuka N; Chiba S; Miyaji M; Watanabe I
    Pediatr Neurol; 2001 Apr; 24(4):297-9. PubMed ID: 11377105
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1.
    Hoffjan S; Thiels C; Vorgerd M; Neuen-Jacob E; Epplen JT; Kress W
    Neuromuscul Disord; 2006 Nov; 16(11):749-53. PubMed ID: 17005396
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Congenital myotubular myopathy with a novel MTM1 gene mutation in a premature infant presenting with ventilator dependency and intrahepatic cholestasis.
    Lee IC; Su PH; Chen JY; Hu JM; Lu JJ; Ng YY
    J Child Neurol; 2012 Jan; 27(1):99-104. PubMed ID: 21881007
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels.
    Abath Neto O; Silva MR; Martins Cde A; Oliveira Ade S; Reed UC; Biancalana V; Pesquero JB; Laporte J; Zanoteli E
    Pediatr Neurol; 2016 May; 58():107-12. PubMed ID: 26995067
    [TBL] [Abstract][Full Text] [Related]  

  • 15. X-linked myotubular and centronuclear myopathies.
    Pierson CR; Tomczak K; Agrawal P; Moghadaszadeh B; Beggs AH
    J Neuropathol Exp Neurol; 2005 Jul; 64(7):555-64. PubMed ID: 16042307
    [TBL] [Abstract][Full Text] [Related]  

  • 16. X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation.
    Jeon JH; Namgung R; Park MS; Park KI; Lee C; Lee JS; Kim SH
    Yonsei Med J; 2011 May; 52(3):547-50. PubMed ID: 21488203
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism.
    Tsai TC; Horinouchi H; Noguchi S; Minami N; Murayama K; Hayashi YK; Nonaka I; Nishino I
    Neuromuscul Disord; 2005 Mar; 15(3):245-52. PubMed ID: 15725586
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy.
    Pierson CR; Agrawal PB; Blasko J; Beggs AH
    Neuromuscul Disord; 2007 Jul; 17(7):562-8. PubMed ID: 17537630
    [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]
    of 14.