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 *

171 related articles for article (PubMed ID: 30925452)

  • 1. Allele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell Phenotypes.
    Rabai A; Reisser L; Reina-San-Martin B; Mamchaoui K; Cowling BS; Nicot AS; Laporte J
    Mol Ther Nucleic Acids; 2019 Jun; 16():246-256. PubMed ID: 30925452
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Reducing dynamin 2 (DNM2) rescues
    Buono S; Ross JA; Tasfaout H; Levy Y; Kretz C; Tayefeh L; Matson J; Guo S; Kessler P; Monia BP; Bitoun M; Ochala J; Laporte J; Cowling BS
    Proc Natl Acad Sci U S A; 2018 Oct; 115(43):11066-11071. PubMed ID: 30291191
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy.
    Trochet D; Prudhon B; Beuvin M; Peccate C; Lorain S; Julien L; Benkhelifa-Ziyyat S; Rabai A; Mamchaoui K; Ferry A; Laporte J; Guicheney P; Vassilopoulos S; Bitoun M
    EMBO Mol Med; 2018 Feb; 10(2):239-253. PubMed ID: 29246969
    [TBL] [Abstract][Full Text] [Related]  

  • 4. DNM2 mutations in Chinese Han patients with centronuclear myopathy.
    Lin P; Liu X; Zhao D; Dai T; Wu H; Gong Y; Yan C
    Neurol Sci; 2016 Jun; 37(6):995-8. PubMed ID: 26908122
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.
    Durieux AC; Vignaud A; Prudhon B; Viou MT; Beuvin M; Vassilopoulos S; Fraysse B; Ferry A; Lainé J; Romero NB; Guicheney P; Bitoun M
    Hum Mol Genet; 2010 Dec; 19(24):4820-36. PubMed ID: 20858595
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Development of versatile allele-specific siRNAs able to silence all the dominant dynamin 2 mutations.
    Dudhal S; Mekzine L; Prudhon B; Soocheta K; Cadot B; Mamchaoui K; Trochet D; Bitoun M
    Mol Ther Nucleic Acids; 2022 Sep; 29():733-748. PubMed ID: 36090755
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Different in vivo impacts of dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or centronuclear myopathy.
    Massana Muñoz X; Buono S; Koebel P; Laporte J; Cowling BS
    Hum Mol Genet; 2019 Dec; 28(24):4067-4077. PubMed ID: 31628461
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2.
    Mori-Yoshimura M; Okuma A; Oya Y; Fujimura-Kiyono C; Nakajima H; Matsuura K; Takemura A; Malicdan MC; Hayashi YK; Nonaka I; Murata M; Nishino I
    Clin Neurol Neurosurg; 2012 Jul; 114(6):678-83. PubMed ID: 22613877
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model.
    Fongy A; Falcone S; Lainé J; Prudhon B; Martins-Bach A; Bitoun M
    Sci Rep; 2019 Feb; 9(1):1580. PubMed ID: 30733559
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Benefits of therapy by dynamin-2-mutant-specific silencing are maintained with time in a mouse model of dominant centronuclear myopathy.
    Trochet D; Prudhon B; Mekzine L; Lemaitre M; Beuvin M; Julien L; Benkhelifa-Ziyyat S; Bui MT; Romero N; Bitoun M
    Mol Ther Nucleic Acids; 2022 Mar; 27():1179-1190. PubMed ID: 35282416
    [TBL] [Abstract][Full Text] [Related]  

  • 11. DNM2 levels normalization improves muscle phenotypes of a novel mouse model for moderate centronuclear myopathy.
    de Carvalho Neves J; Moschovaki-Filippidou F; Böhm J; Laporte J
    Mol Ther Nucleic Acids; 2023 Sep; 33():321-334. PubMed ID: 37547294
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness.
    Cowling BS; Toussaint A; Amoasii L; Koebel P; Ferry A; Davignon L; Nishino I; Mandel JL; Laporte J
    Am J Pathol; 2011 May; 178(5):2224-35. PubMed ID: 21514436
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A centronuclear myopathy-causing mutation in dynamin-2 disrupts neuronal morphology and excitatory synaptic transmission in a murine model of the disease.
    Arriagada-Diaz J; Flores-Muñoz C; Gómez-Soto B; Labraña-Allende M; Mattar-Araos M; Prado-Vega L; Hinostroza F; Gajardo I; Guerra-Fernández MJ; Bevilacqua JA; Cárdenas AM; Bitoun M; Ardiles AO; Gonzalez-Jamett AM
    Neuropathol Appl Neurobiol; 2023 Aug; 49(4):e12918. PubMed ID: 37317811
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Satellite cells deficiency and defective regeneration in dynamin 2-related centronuclear myopathy.
    F Almeida C; Bitoun M; Vainzof M
    FASEB J; 2021 Apr; 35(4):e21346. PubMed ID: 33715228
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A rare case of centronuclear myopathy with
    Aghbolaghi AG; Lechpammer M
    Autops Case Rep; 2017; 7(2):43-48. PubMed ID: 28740838
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy.
    Fraysse B; Guicheney P; Bitoun M
    Biol Open; 2016 Nov; 5(11):1691-1696. PubMed ID: 27870637
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Imaging-based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy.
    Fujise K; Okubo M; Abe T; Yamada H; Takei K; Nishino I; Takeda T; Noguchi S
    Hum Mutat; 2022 Feb; 43(2):169-179. PubMed ID: 34837441
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.
    Echaniz-Laguna A; Nicot AS; Carré S; Franques J; Tranchant C; Dondaine N; Biancalana V; Mandel JL; Laporte J
    Neuromuscul Disord; 2007 Dec; 17(11-12):955-9. PubMed ID: 17825552
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
    Böhm J; Biancalana V; Malfatti E; Dondaine N; Koch C; Vasli N; Kress W; Strittmatter M; Taratuto AL; Gonorazky H; Laforêt P; Maisonobe T; Olivé M; Gonzalez-Mera L; Fardeau M; Carrière N; Clavelou P; Eymard B; Bitoun M; Rendu J; Fauré J; Weis J; Mandel JL; Romero NB; Laporte J
    Brain; 2014 Dec; 137(Pt 12):3160-70. PubMed ID: 25260562
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Muscle-specific function of the centronuclear myopathy and Charcot-Marie-Tooth neuropathy-associated dynamin 2 is required for proper lipid metabolism, mitochondria, muscle fibers, neuromuscular junctions and peripheral nerves.
    Tinelli E; Pereira JA; Suter U
    Hum Mol Genet; 2013 Nov; 22(21):4417-29. PubMed ID: 23813975
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.