BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

388 related articles for article (PubMed ID: 28237839)

  • 1. Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs.
    Mack DL; Poulard K; Goddard MA; Latournerie V; Snyder JM; Grange RW; Elverman MR; Denard J; Veron P; Buscara L; Le Bec C; Hogrel JY; Brezovec AG; Meng H; Yang L; Liu F; O'Callaghan M; Gopal N; Kelly VE; Smith BK; Strande JL; Mavilio F; Beggs AH; Mingozzi F; Lawlor MW; Buj-Bello A; Childers MK
    Mol Ther; 2017 Apr; 25(4):839-854. PubMed ID: 28237839
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Long-term effects of systemic gene therapy in a canine model of myotubular myopathy.
    Elverman M; Goddard MA; Mack D; Snyder JM; Lawlor MW; Meng H; Beggs AH; Buj-Bello A; Poulard K; Marsh AP; Grange RW; Kelly VE; Childers MK
    Muscle Nerve; 2017 Nov; 56(5):943-953. PubMed ID: 28370029
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy.
    Childers MK; Joubert R; Poulard K; Moal C; Grange RW; Doering JA; Lawlor MW; Rider BE; Jamet T; Danièle N; Martin S; Rivière C; Soker T; Hammer C; Van Wittenberghe L; Lockard M; Guan X; Goddard M; Mitchell E; Barber J; Williams JK; Mack DL; Furth ME; Vignaud A; Masurier C; Mavilio F; Moullier P; Beggs AH; Buj-Bello A
    Sci Transl Med; 2014 Jan; 6(220):220ra10. PubMed ID: 24452262
    [TBL] [Abstract][Full Text] [Related]  

  • 4. rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy.
    Ross JA; Tasfaout H; Levy Y; Morgan J; Cowling BS; Laporte J; Zanoteli E; Romero NB; Lowe DA; Jungbluth H; Lawlor MW; Mack DL; Ochala J
    Acta Neuropathol Commun; 2020 Oct; 8(1):167. PubMed ID: 33076971
    [TBL] [Abstract][Full Text] [Related]  

  • 5. AAV-Mediated Gene Transfer Restores a Normal Muscle Transcriptome in a Canine Model of X-Linked Myotubular Myopathy.
    Dupont JB; Guo J; Renaud-Gabardos E; Poulard K; Latournerie V; Lawlor MW; Grange RW; Gray JT; Buj-Bello A; Childers MK; Mack DL
    Mol Ther; 2020 Feb; 28(2):382-393. PubMed ID: 31784415
    [TBL] [Abstract][Full Text] [Related]  

  • 6. AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis.
    Buj-Bello A; Fougerousse F; Schwab Y; Messaddeq N; Spehner D; Pierson CR; Durand M; Kretz C; Danos O; Douar AM; Beggs AH; Schultz P; Montus M; Denèfle P; Mandel JL
    Hum Mol Genet; 2008 Jul; 17(14):2132-43. PubMed ID: 18434328
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice.
    Tasfaout H; Lionello VM; Kretz C; Koebel P; Messaddeq N; Bitz D; Laporte J; Cowling BS
    Mol Ther; 2018 Apr; 26(4):1082-1092. PubMed ID: 29506908
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial.
    Lawlor MW; Schoser B; Margeta M; Sewry CA; Jones KA; Shieh PB; Kuntz NL; Smith BK; Dowling JJ; Müller-Felber W; Bönnemann CG; Seferian AM; Blaschek A; Neuhaus S; Foley AR; Saade DN; Tsuchiya E; Qasim UR; Beatka M; Prom MJ; Ott E; Danielson S; Krakau P; Kumar SN; Meng H; Vanden Avond M; Wells C; Gordish-Dressman H; Beggs AH; Christensen S; Conner E; James ES; Lee J; Sadhu C; Miller W; Sepulveda B; Varfaj F; Prasad S; Rico S
    EBioMedicine; 2024 Jan; 99():104894. PubMed ID: 38086156
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Validity of a Neurological Scoring System for Canine X-Linked Myotubular Myopathy.
    Snyder JM; Meisner A; Mack D; Goddard M; Coulter IT; Grange R; Childers MK
    Hum Gene Ther Clin Dev; 2015 Jun; 26(2):131-7. PubMed ID: 26086764
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle.
    Joubert R; Vignaud A; Le M; Moal C; Messaddeq N; Buj-Bello A
    Hum Mol Genet; 2013 May; 22(9):1856-66. PubMed ID: 23390130
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant.
    Kraatari M; Tuominen H; Tuupanen S; Haapaniemi T; Moilanen J; Rahikkala E
    Eur J Med Genet; 2020 Nov; 63(11):104040. PubMed ID: 32805447
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. High-throughput transcriptome analyses from ASPIRO, a phase 1/2/3 study of gene replacement therapy for X-linked myotubular myopathy.
    Andreoletti G; Romano O; Chou HJ; Sefid-Dashti MJ; Grilli A; Chen C; Lakshman N; Purushothaman P; Varfaj F; Mavilio F; Bicciato S; Urbinati F
    Am J Hum Genet; 2023 Oct; 110(10):1648-1660. PubMed ID: 37673065
    [TBL] [Abstract][Full Text] [Related]  

  • 16. MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.
    Beggs AH; Böhm J; Snead E; Kozlowski M; Maurer M; Minor K; Childers MK; Taylor SM; Hitte C; Mickelson JR; Guo LT; Mizisin AP; Buj-Bello A; Tiret L; Laporte J; Shelton GD
    Proc Natl Acad Sci U S A; 2010 Aug; 107(33):14697-702. PubMed ID: 20682747
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
    Biancalana V; Scheidecker S; Miguet M; Laquerrière A; Romero NB; Stojkovic T; Abath Neto O; Mercier S; Voermans N; Tanner L; Rogers C; Ollagnon-Roman E; Roper H; Boutte C; Ben-Shachar S; Lornage X; Vasli N; Schaefer E; Laforet P; Pouget J; Moerman A; Pasquier L; Marcorelle P; Magot A; Küsters B; Streichenberger N; Tranchant C; Dondaine N; Schneider R; Gasnier C; Calmels N; Kremer V; Nguyen K; Perrier J; Kamsteeg EJ; Carlier P; Carlier RY; Thompson J; Boland A; Deleuze JF; Fardeau M; Zanoteli E; Eymard B; Laporte J
    Acta Neuropathol; 2017 Dec; 134(6):889-904. PubMed ID: 28685322
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways.
    Al-Qusairi L; Prokic I; Amoasii L; Kretz C; Messaddeq N; Mandel JL; Laporte J
    FASEB J; 2013 Aug; 27(8):3384-94. PubMed ID: 23695157
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Clinical phenotype of X-linked myotubular myopathy in Labrador Retriever puppies.
    Snead EC; Taylor SM; van der Kooij M; Cosford K; Beggs AH; Shelton GD
    J Vet Intern Med; 2015 Jan; 29(1):254-60. PubMed ID: 25581576
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.