BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

229 related articles for article (PubMed ID: 16714318)

  • 1. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
    Verhoeven K; Claeys KG; Züchner S; Schröder JM; Weis J; Ceuterick C; Jordanova A; Nelis E; De Vriendt E; Van Hul M; Seeman P; Mazanec R; Saifi GM; Szigeti K; Mancias P; Butler IJ; Kochanski A; Ryniewicz B; De Bleecker J; Van den Bergh P; Verellen C; Van Coster R; Goemans N; Auer-Grumbach M; Robberecht W; Milic Rasic V; Nevo Y; Tournev I; Guergueltcheva V; Roelens F; Vieregge P; Vinci P; Moreno MT; Christen HJ; Shy ME; Lupski JR; Vance JM; De Jonghe P; Timmerman V
    Brain; 2006 Aug; 129(Pt 8):2093-102. PubMed ID: 16714318
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Charcot-Marie-Tooth disease type 2CC due to
    Pipis M; Cortese A; Polke JM; Poh R; Vandrovcova J; Laura M; Skorupinska M; Jacquier A; Juntas-Morales R; Latour P; Petiot P; Sole G; Fromes Y; Shah S; Blake J; Choi BO; Chung KW; Stojkovic T; Rossor AM; Reilly MM
    J Neurol Neurosurg Psychiatry; 2022 Jan; 93(1):48-56. PubMed ID: 34518334
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Phenotype-driven reanalysis reveals five novel pathogenic variants in 40 exome-negative families with Charcot-Marie-Tooth Disease.
    Lin Z; Liu L; Li X; Huang S; Zhao H; Zeng S; Yang H; Xie Y; Zhang R
    J Neurol; 2024 Jan; 271(1):497-503. PubMed ID: 37776383
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinicopathologic features of two unrelated autopsied patients with Charcot-Marie-Tooth disease carrying MFN2 gene mutation.
    Hayashi H; Saito R; Tanaka H; Hara N; Koide S; Yonemochi Y; Ozawa T; Hokari M; Toyoshima Y; Miyashita A; Onodera O; Okamoto K; Ikeuchi T; Nakajima T; Kakita A
    Acta Neuropathol Commun; 2023 Dec; 11(1):207. PubMed ID: 38124143
    [No Abstract]   [Full Text] [Related]  

  • 5. A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy.
    Fyfe JC; Al-Tamimi RA; Liu J; Schäffer AA; Agarwala R; Henthorn PS
    Neurogenetics; 2011 Aug; 12(3):223-32. PubMed ID: 21643798
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.
    Polke JM; Laurá M; Pareyson D; Taroni F; Milani M; Bergamin G; Gibbons VS; Houlden H; Chamley SC; Blake J; Devile C; Sandford R; Sweeney MG; Davis MB; Reilly MM
    Neurology; 2011 Jul; 77(2):168-73. PubMed ID: 21715711
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction.
    Del Bo R; Moggio M; Rango M; Bonato S; D'Angelo MG; Ghezzi S; Airoldi G; Bassi MT; Guglieri M; Napoli L; Lamperti C; Corti S; Federico A; Bresolin N; Comi GP
    Neurology; 2008 Dec; 71(24):1959-66. PubMed ID: 18946002
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.
    Calvo J; Funalot B; Ouvrier RA; Lazaro L; Toutain A; De Mas P; Bouche P; Gilbert-Dussardier B; Arne-Bes MC; Carrière JP; Journel H; Minot-Myhie MC; Guillou C; Ghorab K; Magy L; Sturtz F; Vallat JM; Magdelaine C
    Arch Neurol; 2009 Dec; 66(12):1511-6. PubMed ID: 20008656
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A.
    Cartoni R; Martinou JC
    Exp Neurol; 2009 Aug; 218(2):268-73. PubMed ID: 19427854
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Phenotypic spectrum of MFN2 mutations in the Spanish population.
    Casasnovas C; Banchs I; Cassereau J; Gueguen N; Chevrollier A; Martínez-Matos JA; Bonneau D; Volpini V
    J Med Genet; 2010 Apr; 47(4):249-56. PubMed ID: 19889647
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties.
    Saporta MA; Dang V; Volfson D; Zou B; Xie XS; Adebola A; Liem RK; Shy M; Dimos JT
    Exp Neurol; 2015 Jan; 263():190-9. PubMed ID: 25448007
    [TBL] [Abstract][Full Text] [Related]  

  • 15. MFN2 mutations cause compensatory mitochondrial DNA proliferation.
    Sitarz KS; Yu-Wai-Man P; Pyle A; Stewart JD; Rautenstrauss B; Seeman P; Reilly MM; Horvath R; Chinnery PF
    Brain; 2012 Aug; 135(Pt 8):e219, 1-3; author reply e220, 1-3. PubMed ID: 22492563
    [No Abstract]   [Full Text] [Related]  

  • 16. 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]  

  • 17. Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model.
    Strickland AV; Rebelo AP; Zhang F; Price J; Bolon B; Silva JP; Wen R; Züchner S
    J Peripher Nerv Syst; 2014 Jun; 19(2):152-64. PubMed ID: 24862862
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.
    Sivera R; Sevilla T; Vílchez JJ; Martínez-Rubio D; Chumillas MJ; Vázquez JF; Muelas N; Bataller L; Millán JM; Palau F; Espinós C
    Neurology; 2013 Oct; 81(18):1617-25. PubMed ID: 24078732
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 12.