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 *

185 related articles for article (PubMed ID: 17309650)

  • 1. Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2.
    Cho HJ; Sung DH; Kim BJ; Ki CS
    Clin Genet; 2007 Mar; 71(3):267-72. PubMed ID: 17309650
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.
    Kijima K; Numakura C; Izumino H; Umetsu K; Nezu A; Shiiki T; Ogawa M; Ishizaki Y; Kitamura T; Shozawa Y; Hayasaka K
    Hum Genet; 2005 Jan; 116(1-2):23-7. PubMed ID: 15549395
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients.
    Choi BO; Nakhro K; Park HJ; Hyun YS; Lee JH; Kanwal S; Jung SC; Chung KW
    Clin Genet; 2015 Jun; 87(6):594-8. PubMed ID: 24863639
    [TBL] [Abstract][Full Text] [Related]  

  • 4. MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.
    Braathen GJ; Sand JC; Lobato A; Høyer H; Russell MB
    BMC Med Genet; 2010 Mar; 11():48. PubMed ID: 20350294
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.
    Bergamin G; Boaretto F; Briani C; Pegoraro E; Cacciavillani M; Martinuzzi A; Muglia M; Vettori A; Vazza G; Mostacciuolo ML
    Neuromolecular Med; 2014 Sep; 16(3):540-50. PubMed ID: 24819634
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Mutations in the mitofusin 2 gene are the most common cause of Charcot-Marie-Tooth type 2 disease].
    Sołtysińska E; Kabzińska D; Kochański A
    Neurol Neurochir Pol; 2007; 41(4):350-4. PubMed ID: 17874344
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene.
    Lawson VH; Graham BV; Flanigan KM
    Neurology; 2005 Jul; 65(2):197-204. PubMed ID: 16043786
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.
    Chung KW; Kim SB; Park KD; Choi KG; Lee JH; Eun HW; Suh JS; Hwang JH; Kim WK; Seo BC; Kim SH; Son IH; Kim SM; Sunwoo IN; Choi BO
    Brain; 2006 Aug; 129(Pt 8):2103-18. PubMed ID: 16835246
    [TBL] [Abstract][Full Text] [Related]  

  • 10. MFN2-related genetic and clinical features in a cohort of Chinese CMT2 patients.
    Xie Y; Li X; Liu L; Hu Z; Huang S; Zhan Y; Zi X; Xia K; Tang B; Zhang R
    J Peripher Nerv Syst; 2016 Mar; 21(1):38-44. PubMed ID: 26801520
    [TBL] [Abstract][Full Text] [Related]  

  • 11. MFN2 mutations cause severe phenotypes in most patients with CMT2A.
    Feely SM; Laura M; Siskind CE; Sottile S; Davis M; Gibbons VS; Reilly MM; Shy ME
    Neurology; 2011 May; 76(20):1690-6. PubMed ID: 21508331
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Mutation analysis of MFN2 gene in Chinese patients with Charcot-Marie-Tooth disease].
    Zhang RX; Fu M; Zi XH; Li XB; Zhang FF; Xia K; Pan Q; Hu ZM; Tang BS
    Zhonghua Yi Xue Za Zhi; 2009 Dec; 89(47):3324-7. PubMed ID: 20193559
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2.
    McCorquodale DS; Montenegro G; Peguero A; Carlson N; Speziani F; Price J; Taylor SW; Melanson M; Vance JM; Züchner S
    J Neurol; 2011 Jul; 258(7):1234-9. PubMed ID: 21258814
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.
    Ando M; Hashiguchi A; Okamoto Y; Yoshimura A; Hiramatsu Y; Yuan J; Higuchi Y; Mitsui J; Ishiura H; Umemura A; Maruyama K; Matsushige T; Morishita S; Nakagawa M; Tsuji S; Takashima H
    J Peripher Nerv Syst; 2017 Sep; 22(3):191-199. PubMed ID: 28660751
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mitochondrial Dysfunction and Pharmacodynamics of Mitofusin Activation in Murine Charcot-Marie-Tooth Disease Type 2A.
    Franco A; Dang X; Zhang L; Molinoff PB; Dorn GW
    J Pharmacol Exp Ther; 2022 Nov; 383(2):137-148. PubMed ID: 36507849
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations.
    Amiott EA; Lott P; Soto J; Kang PB; McCaffery JM; DiMauro S; Abel ED; Flanigan KM; Lawson VH; Shaw JM
    Exp Neurol; 2008 May; 211(1):115-27. PubMed ID: 18316077
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A human mitofusin 2 mutation can cause mitophagic cardiomyopathy.
    Franco A; Li J; Kelly DP; Hershberger RE; Marian AJ; Lewis RM; Song M; Dang X; Schmidt AD; Mathyer ME; Edwards JR; Strong CG; Dorn GW
    Elife; 2023 Nov; 12():. PubMed ID: 37910431
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype.
    Iapadre G; Morana G; Vari MS; Pinto F; Lanteri P; Tessa A; Santorelli FM; Striano P; Verrotti A
    Eur J Paediatr Neurol; 2018 May; 22(3):563-567. PubMed ID: 29361379
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review.
    Tan CA; Rabideau M; Blevins A; Westbrook MJ; Ekstein T; Nykamp K; Deucher A; Harper A; Demmer L
    Am J Med Genet A; 2016 Jun; 170(6):1580-4. PubMed ID: 26955893
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations.
    Baloh RH; Schmidt RE; Pestronk A; Milbrandt J
    J Neurosci; 2007 Jan; 27(2):422-30. PubMed ID: 17215403
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.