217 related articles for article (PubMed ID: 17636067)
1. Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease.
Fabrizi GM; Ferrarini M; Cavallaro T; Cabrini I; Cerini R; Bertolasi L; Rizzuto N
Neurology; 2007 Jul; 69(3):291-5. PubMed ID: 17636067
[TBL] [Abstract][Full Text] [Related]
2. Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.
Claeys KG; Züchner S; Kennerson M; Berciano J; Garcia A; Verhoeven K; Storey E; Merory JR; Bienfait HM; Lammens M; Nelis E; Baets J; De Vriendt E; Berneman ZN; De Veuster I; Vance JM; Nicholson G; Timmerman V; De Jonghe P
Brain; 2009 Jul; 132(Pt 7):1741-52. PubMed ID: 19502294
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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]
7. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.
Züchner S; Noureddine M; Kennerson M; Verhoeven K; Claeys K; De Jonghe P; Merory J; Oliveira SA; Speer MC; Stenger JE; Walizada G; Zhu D; Pericak-Vance MA; Nicholson G; Timmerman V; Vance JM
Nat Genet; 2005 Mar; 37(3):289-94. PubMed ID: 15731758
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Phenotype variability and histopathological findings in patients with a novel DNM2 mutation.
Chen S; Huang P; Qiu Y; Zhou Q; Li X; Zhu M; Hong D
Neuropathology; 2018 Feb; 38(1):34-40. PubMed ID: 28971531
[TBL] [Abstract][Full Text] [Related]
11. A new mutation in DNM2 gene in a large Italian family.
Lopergolo D; Bocci S; Pinto AM; Valentino F; Doddato G; Ginanneschi F; Volpi N; Renieri A; Giannini F
Neurol Sci; 2021 Jun; 42(6):2509-2513. PubMed ID: 33459893
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
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. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
Sevilla T; Lupo V; Martínez-Rubio D; Sancho P; Sivera R; Chumillas MJ; García-Romero M; Pascual-Pascual SI; Muelas N; Dopazo J; Vílchez JJ; Palau F; Espinós C
Brain; 2016 Jan; 139(Pt 1):62-72. PubMed ID: 26497905
[TBL] [Abstract][Full Text] [Related]
16. A Novel Dynamin 2 Mutation Causing Dominant Intermediate Charcot-Marie-Tooth Neuropathy: Case Report.
San Luis CV; Schwartzlow C; Nozaki K; Ubogu EE
J Investig Med High Impact Case Rep; 2022; 10():23247096221117801. PubMed ID: 35993408
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.
Fabrizi GM; Cavallaro T; Angiari C; Cabrini I; Taioli F; Malerba G; Bertolasi L; Rizzuto N
Brain; 2007 Feb; 130(Pt 2):394-403. PubMed ID: 17052987
[TBL] [Abstract][Full Text] [Related]
19. Gain-of-Function Properties of a Dynamin 2 Mutant Implicated in Charcot-Marie-Tooth Disease.
Tassin TC; Barylko B; Hedde PN; Chen Y; Binns DD; James NG; Mueller JD; Jameson DM; Taussig R; Albanesi JP
Front Cell Neurosci; 2021; 15():745940. PubMed ID: 34744632
[TBL] [Abstract][Full Text] [Related]
20. Genetic epidemiology of Charcot-Marie-Tooth disease.
Braathen GJ
Acta Neurol Scand Suppl; 2012; (193):iv-22. PubMed ID: 23106488
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]