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 *

181 related articles for article (PubMed ID: 33164942)

  • 1. Diagnosing X-linked Myotubular Myopathy - A German 20-year Follow Up Experience.
    Gangfuss A; Schmitt D; Roos A; Braun F; Annoussamy M; Servais L; Schara-Schmidt U
    J Neuromuscul Dis; 2021; 8(1):79-90. PubMed ID: 33164942
    [TBL] [Abstract][Full Text] [Related]  

  • 2. X-linked myotubular myopathy: A prospective international natural history study.
    Annoussamy M; Lilien C; Gidaro T; Gargaun E; Chê V; Schara U; Gangfuß A; D'Amico A; Dowling JJ; Darras BT; Daron A; Hernandez A; de Lattre C; Arnal JM; Mayer M; Cuisset JM; Vuillerot C; Fontaine S; Bellance R; Biancalana V; Buj-Bello A; Hogrel JY; Landy H; Servais L
    Neurology; 2019 Apr; 92(16):e1852-e1867. PubMed ID: 30902907
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy.
    Dowling JJ; Müller-Felber W; Smith BK; Bönnemann CG; Kuntz NL; Muntoni F; Servais L; Alfano LN; Beggs AH; Bilder DA; Blaschek A; Duong T; Graham RJ; Jain M; Lawlor MW; Lee J; Coats J; Lilien C; Lowes LP; MacBean V; Neuhaus S; Noursalehi M; Pitts T; Finlay C; Christensen S; Rafferty G; Seferian AM; Tsuchiya E; James ES; Miller W; Sepulveda B; Vila MC; Prasad S; Rico S; Shieh PB;
    J Neuromuscul Dis; 2022; 9(4):503-516. PubMed ID: 35694931
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.
    Shieh PB; Kuntz NL; Dowling JJ; Müller-Felber W; Bönnemann CG; Seferian AM; Servais L; Smith BK; Muntoni F; Blaschek A; Foley AR; Saade DN; Neuhaus S; Alfano LN; Beggs AH; Buj-Bello A; Childers MK; Duong T; Graham RJ; Jain M; Coats J; MacBean V; James ES; Lee J; Mavilio F; Miller W; Varfaj F; Murtagh M; Han C; Noursalehi M; Lawlor MW; Prasad S; Rico S
    Lancet Neurol; 2023 Dec; 22(12):1125-1139. PubMed ID: 37977713
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States.
    Graham RJ; Darras BT; Haselkorn T; Fisher D; Genetti CA; Miller W; Beggs AH
    Orphanet J Rare Dis; 2023 Jun; 18(1):138. PubMed ID: 37280644
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Use of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in X-Linked Myotubular Myopathy: Content Validity and Psychometric Performance.
    Duong T; Harding G; Mannix S; Abel C; Phillips D; Alfano LN; Bönnemann CG; Lilien C; Lowes LP; Servais L; Warken-Madelung B; Nieto Bergman S; James ES; Noursalehi M; Prasad S; Rico S; Bilder DA
    J Neuromuscul Dis; 2021; 8(1):63-77. PubMed ID: 32925083
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A healthcare claims analysis to identify and characterize patients with suspected X-Linked Myotubular Myopathy (XLMTM) in the Brazilian Healthcare System.
    Souza PVS; Haselkorn T; Baima J; Oliveira RW; Hernández F; Birck MG; França MC
    Orphanet J Rare Dis; 2024 May; 19(1):188. PubMed ID: 38715109
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.
    Graham RJ; Muntoni F; Hughes I; Yum SW; Kuntz NL; Yang ML; Byrne BJ; Prasad S; Alvarez R; Genetti CA; Haselkorn T; James ES; LaRusso LB; Noursalehi M; Rico S; Beggs AH
    Arch Dis Child; 2020 Apr; 105(4):332-338. PubMed ID: 31484632
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool.
    Kušíková K; Šoltýsová A; Ficek A; Feichtinger RG; Mayr JA; Škopková M; Gašperíková D; Kolníková M; Ornig K; Kalev O; Weis S; Weis D
    Genes (Basel); 2023 Dec; 14(12):. PubMed ID: 38136996
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. X-Linked Myotubular Myopathy: A Novel Mutation Expanding the Genotypic Spectrum of a Phenotypically Heterogeneous Myopathy.
    Carvalho A; Costa C; Pinto M; Taipa R; Gonçalves A; Oliveira ME; Ferreira S; Ribeiro JA
    J Pediatr Genet; 2023 Sep; 12(3):258-262. PubMed ID: 37575650
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. X-linked myotubular myopathy: a clinical report and a review of the mild phenotype.
    Barreto-Mota R; Figueirinha J; Quental R; Fonseca J; Melo C; Sampaio M; Sousa R
    Rev Neurol; 2023 Apr; 76(7):243-246. PubMed ID: 36973888
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 10.