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.
25. 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]
26. MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvement. Schessl J; Medne L; Hu Y; Zou Y; Brown MJ; Huse JT; Torigian DA; Jungbluth H; Goebel HH; Bönnemann CG Neuromuscul Disord; 2007 Jan; 17(1):28-32. PubMed ID: 17134899 [TBL] [Abstract][Full Text] [Related]
27. Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Böhm J; Biancalana V; Dechene ET; Bitoun M; Pierson CR; Schaefer E; Karasoy H; Dempsey MA; Klein F; Dondaine N; Kretz C; Haumesser N; Poirson C; Toussaint A; Greenleaf RS; Barger MA; Mahoney LJ; Kang PB; Zanoteli E; Vissing J; Witting N; Echaniz-Laguna A; Wallgren-Pettersson C; Dowling J; Merlini L; Oldfors A; Bomme Ousager L; Melki J; Krause A; Jern C; Oliveira AS; Petit F; Jacquette A; Chaussenot A; Mowat D; Leheup B; Cristofano M; Poza Aldea JJ; Michel F; Furby A; Llona JE; Van Coster R; Bertini E; Urtizberea JA; Drouin-Garraud V; Béroud C; Prudhon B; Bedford M; Mathews K; Erby LA; Smith SA; Roggenbuck J; Crowe CA; Brennan Spitale A; Johal SC; Amato AA; Demmer LA; Jonas J; Darras BT; Bird TD; Laurino M; Welt SI; Trotter C; Guicheney P; Das S; Mandel JL; Beggs AH; Laporte J Hum Mutat; 2012 Jun; 33(6):949-59. PubMed ID: 22396310 [TBL] [Abstract][Full Text] [Related]
28. 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]
29. 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]
30. Impaired excitation-contraction coupling in muscle fibres from the dynamin2 Kutchukian C; Szentesi P; Allard B; Trochet D; Beuvin M; Berthier C; Tourneur Y; Guicheney P; Csernoch L; Bitoun M; Jacquemond V J Physiol; 2017 Dec; 595(24):7369-7382. PubMed ID: 29071728 [TBL] [Abstract][Full Text] [Related]
31. Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease. Zhao M; Maani N; Dowling JJ Neurotherapeutics; 2018 Oct; 15(4):966-975. PubMed ID: 30426359 [TBL] [Abstract][Full Text] [Related]
32. Centronuclear myopathies: a widening concept. Romero NB Neuromuscul Disord; 2010 Apr; 20(4):223-8. PubMed ID: 20181480 [TBL] [Abstract][Full Text] [Related]
33. Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature. Jeub M; Bitoun M; Guicheney P; Kappes-Horn K; Strach K; Druschky KF; Weis J; Fischer D Clin Neuropathol; 2008; 27(6):430-8. PubMed ID: 19130742 [TBL] [Abstract][Full Text] [Related]
34. Clinical, Electrophysiology, and Pathology Features of Dynamin Centronuclear Myopathy: A Case Report and Review of Literature. Verma S; Balasubramanian SB J Clin Neuromuscul Dis; 2016 Dec; 18(2):84-88. PubMed ID: 27861221 [TBL] [Abstract][Full Text] [Related]
35. A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres. Casar-Borota O; Jacobsson J; Libelius R; Oldfors CH; Malfatti E; Romero NB; Oldfors A Neuromuscul Disord; 2015 Apr; 25(4):345-8. PubMed ID: 25633151 [TBL] [Abstract][Full Text] [Related]
36. Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin. Massana Muñoz X; Kretz C; Silva-Rojas R; Ochala J; Menuet A; Romero NB; Cowling BS; Laporte J JCI Insight; 2020 Sep; 5(18):. PubMed ID: 32809972 [TBL] [Abstract][Full Text] [Related]
37. Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Susman RD; Quijano-Roy S; Yang N; Webster R; Clarke NF; Dowling J; Kennerson M; Nicholson G; Biancalana V; Ilkovski B; Flanigan KM; Arbuckle S; Malladi C; Robinson P; Vucic S; Mayer M; Romero NB; Urtizberea JA; García-Bragado F; Guicheney P; Bitoun M; Carlier RY; North KN Neuromuscul Disord; 2010 Apr; 20(4):229-37. PubMed ID: 20227276 [TBL] [Abstract][Full Text] [Related]
38. Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy. Espinosa KG; Geissah S; Groom L; Volpatti J; Scott IC; Dirksen RT; Zhao M; Dowling JJ Dis Model Mech; 2022 May; 15(5):. PubMed ID: 35293586 [TBL] [Abstract][Full Text] [Related]