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11. A novel mutation in the DNM2 gene impairs dynamin 2 localization in skeletal muscle of a patient with late onset centronuclear myopathy. Kierdaszuk B; Berdynski M; Karolczak J; Redowicz MJ; Zekanowski C; Kaminska AM Neuromuscul Disord; 2013 Mar; 23(3):219-28. PubMed ID: 23374900 [TBL] [Abstract][Full Text] [Related]
12. A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings. Bitoun M; Stojkovic T; Prudhon B; Maurage CA; Latour P; Vermersch P; Guicheney P Neuromuscul Disord; 2008 Apr; 18(4):334-8. PubMed ID: 18394888 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Phenotypic variability in a large Czech family with a dynamin 2-associated Charcot-Marie-Tooth neuropathy. Haberlová J; Mazanec R; Ridzoň P; Baránková L; Nürnberg G; Nürnberg P; Sticht H; Huehne K; Seeman P; Rautenstrauss B J Neurogenet; 2011 Dec; 25(4):182-8. PubMed ID: 22091729 [TBL] [Abstract][Full Text] [Related]
15. Mutations in dynamin 2 cause dominant centronuclear myopathy. Bitoun M; Maugenre S; Jeannet PY; Lacène E; Ferrer X; Laforêt P; Martin JJ; Laporte J; Lochmüller H; Beggs AH; Fardeau M; Eymard B; Romero NB; Guicheney P Nat Genet; 2005 Nov; 37(11):1207-9. PubMed ID: 16227997 [TBL] [Abstract][Full Text] [Related]
16. Two dynamin-2 genes are required for normal zebrafish development. Gibbs EM; Davidson AE; Trickey-Glassman A; Backus C; Hong Y; Sakowski SA; Dowling JJ; Feldman EL PLoS One; 2013; 8(2):e55888. PubMed ID: 23418470 [TBL] [Abstract][Full Text] [Related]
17. Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy. Koutsopoulos OS; Koch C; Tosch V; Böhm J; North KN; Laporte J PLoS One; 2011; 6(11):e27498. PubMed ID: 22096584 [TBL] [Abstract][Full Text] [Related]
18. Common membrane trafficking defects of disease-associated dynamin 2 mutations. Liu YW; Lukiyanchuk V; Schmid SL Traffic; 2011 Nov; 12(11):1620-33. PubMed ID: 21762456 [TBL] [Abstract][Full Text] [Related]
19. Loss of Dynamin 2 GTPase function results in microcytic anaemia. Brown FC; Collett M; Tremblay CS; Rank G; De Camilli P; Booth CJ; Bitoun M; Robinson PJ; Kile BT; Jane SM; Curtis DJ Br J Haematol; 2017 Aug; 178(4):616-628. PubMed ID: 28466468 [TBL] [Abstract][Full Text] [Related]
20. Zebrafish as a Model to Investigate Dynamin 2-Related Diseases. Bragato C; Gaudenzi G; Blasevich F; Pavesi G; Maggi L; Giunta M; Cotelli F; Mora M Sci Rep; 2016 Feb; 6():20466. PubMed ID: 26842864 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]