396 related articles for article (PubMed ID: 23813975)
1. 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]
2. 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]
3. 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]
4. 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]
5. Dynamin 2 mutations in Charcot-Marie-Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination.
Sidiropoulos PN; Miehe M; Bock T; Tinelli E; Oertli CI; Kuner R; Meijer D; Wollscheid B; Niemann A; Suter U
Brain; 2012 May; 135(Pt 5):1395-411. PubMed ID: 22451505
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. 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]
10. Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation.
Liewluck T; Lovell TL; Bite AV; Engel AG
Neuromuscul Disord; 2010 Dec; 20(12):801-4. PubMed ID: 20817456
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Insights into wild-type dynamin 2 and the consequences of DNM2 mutations from transgenic zebrafish.
Zhao M; Smith L; Volpatti J; Fabian L; Dowling JJ
Hum Mol Genet; 2019 Dec; 28(24):4186-4196. PubMed ID: 31691805
[TBL] [Abstract][Full Text] [Related]
13. Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy.
Fischer D; Herasse M; Bitoun M; Barragán-Campos HM; Chiras J; Laforêt P; Fardeau M; Eymard B; Guicheney P; Romero NB
Brain; 2006 Jun; 129(Pt 6):1463-9. PubMed ID: 16585051
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Dynamin-2 in nervous system disorders.
González-Jamett AM; Haro-Acuña V; Momboisse F; Caviedes P; Bevilacqua JA; Cárdenas AM
J Neurochem; 2014 Jan; 128(2):210-23. PubMed ID: 24102355
[TBL] [Abstract][Full Text] [Related]
17. Dynamin 2 and human diseases.
Durieux AC; Prudhon B; Guicheney P; Bitoun M
J Mol Med (Berl); 2010 Apr; 88(4):339-50. PubMed ID: 20127478
[TBL] [Abstract][Full Text] [Related]
18. Mice carrying an analogous heterozygous dynamin 2 K562E mutation that causes neuropathy in humans develop predominant characteristics of a primary myopathy.
Pereira JA; Gerber J; Ghidinelli M; Gerber D; Tortola L; Ommer A; Bachofner S; Santarella F; Tinelli E; Lin S; Rüegg MA; Kopf M; Toyka KV; Suter U
Hum Mol Genet; 2020 May; 29(8):1253-1273. PubMed ID: 32129442
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation.
Chin YH; Lee A; Kan HW; Laiman J; Chuang MC; Hsieh ST; Liu YW
Hum Mol Genet; 2015 Oct; 24(19):5542-54. PubMed ID: 26199319
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
