These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

173 related articles for article (PubMed ID: 34011573)

  • 21. 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]  

  • 22. Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.
    Pierson CR; Dulin-Smith AN; Durban AN; Marshall ML; Marshall JT; Snyder AD; Naiyer N; Gladman JT; Chandler DS; Lawlor MW; Buj-Bello A; Dowling JJ; Beggs AH
    Hum Mol Genet; 2012 Feb; 21(4):811-25. PubMed ID: 22068590
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal allele.
    Gómez-González C; Rosas-Alonso R; Rodríguez-Antolín C; García-Guede A; Ibáñez de Caceres I; Sanguino J; Pascual SI; Esteban I; Pozo AD; Mori MÁ; Torres RJ; Prior C
    Eur J Med Genet; 2021 Apr; 64(4):104170. PubMed ID: 33618039
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy.
    Gurgel-Giannetti J; Zanoteli E; de Castro Concentino EL; Abath Neto O; Pesquero JB; Reed UC; Vainzof M
    Neuromuscul Disord; 2012 Jun; 22(6):541-5. PubMed ID: 22264517
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 'Long-term survival in X-linked myotubular myopathy'.
    Foye PM
    Dev Med Child Neurol; 2007 Jun; 49(6):478. PubMed ID: 17518939
    [No Abstract]   [Full Text] [Related]  

  • 26. A mutation in MTM1 causes X-Linked myotubular myopathy in Boykin spaniels.
    Olby NJ; Friedenberg S; Meurs K; DeProspero D; Guevar J; Lau J; Yost O; Guo LT; Shelton GD
    Neuromuscul Disord; 2020 May; 30(5):353-359. PubMed ID: 32417001
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Mutation studies in X-linked myotubular myopathy in three Indian families.
    Bijarnia S; Puri RD; Jain M; Kler N; Roy S; Urtizberea JA; Biancalana V; Verma IC
    Indian J Pediatr; 2010 Apr; 77(4):431-3. PubMed ID: 20358311
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy.
    Nishikawa A; Iida A; Hayashi S; Okubo M; Oya Y; Yamanaka G; Takahashi I; Nonaka I; Noguchi S; Nishino I
    Mol Genet Genomic Med; 2019 May; 7(5):e621. PubMed ID: 30884204
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. 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]  

  • 31. Muscle function in a canine model of X-linked myotubular myopathy.
    Grange RW; Doering J; Mitchell E; Holder MN; Guan X; Goddard M; Tegeler C; Beggs AH; Childers MK
    Muscle Nerve; 2012 Oct; 46(4):588-91. PubMed ID: 22987702
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy.
    Biancalana V; Romero NB; Thuestad IJ; Ignatius J; Kataja J; Gardberg M; Héron D; Malfatti E; Oldfors A; Laporte J
    Acta Neuropathol Commun; 2018 Sep; 6(1):93. PubMed ID: 30208955
    [No Abstract]   [Full Text] [Related]  

  • 33. Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.
    Lawlor MW; Armstrong D; Viola MG; Widrick JJ; Meng H; Grange RW; Childers MK; Hsu CP; O'Callaghan M; Pierson CR; Buj-Bello A; Beggs AH
    Hum Mol Genet; 2013 Apr; 22(8):1525-38. PubMed ID: 23307925
    [TBL] [Abstract][Full Text] [Related]  

  • 34. "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]  

  • 35. X-linked myotubular myopathy.
    Lawlor MW; Dowling JJ
    Neuromuscul Disord; 2021 Oct; 31(10):1004-1012. PubMed ID: 34736623
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. 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]  

  • 38. 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]  

  • 39. Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.
    Savarese M; Musumeci O; Giugliano T; Rubegni A; Fiorillo C; Fattori F; Torella A; Battini R; Rodolico C; Pugliese A; Piluso G; Maggi L; D'Amico A; Bruno C; Bertini E; Santorelli FM; Mora M; Toscano A; Minetti C; Nigro V
    Neuromuscul Disord; 2016; 26(4-5):292-9. PubMed ID: 27017278
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Fatal hepatic hemorrhage by peliosis hepatis in X-linked myotubular myopathy: a case report.
    Motoki T; Fukuda M; Nakano T; Matsukage S; Fukui A; Akiyoshi S; Hayashi YK; Ishii E; Nishino I
    Neuromuscul Disord; 2013 Nov; 23(11):917-21. PubMed ID: 24011703
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.