BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

282 related articles for article (PubMed ID: 12566280)

  • 21. 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]  

  • 22. Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E.
    Fabrizi GM; Cavallaro T; Angiari C; Bertolasi L; Cabrini I; Ferrarini M; Rizzuto N
    Neurology; 2004 Apr; 62(8):1429-31. PubMed ID: 15111691
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Myelinated axons fail to develop properly in a genetically authentic mouse model of Charcot-Marie-Tooth disease type 2E.
    Lancaster E; Li J; Hanania T; Liem R; Scheideler MA; Scherer SS
    Exp Neurol; 2018 Oct; 308():13-25. PubMed ID: 29940160
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. Clinical and genetic characterization of NEFL-related neuropathy in Taiwan.
    Chao HC; Hsiao CT; Lai KL; Tsai YS; Lin KP; Liao YC; Lee YC
    J Formos Med Assoc; 2023 Feb; 122(2):132-138. PubMed ID: 36031490
    [TBL] [Abstract][Full Text] [Related]  

  • 26. X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.
    Birouk N; LeGuern E; Maisonobe T; Rouger H; Gouider R; Tardieu S; Gugenheim M; Routon MC; Léger JM; Agid Y; Brice A; Bouche P
    Neurology; 1998 Apr; 50(4):1074-82. PubMed ID: 9566397
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. Mutations in the neurofilament light chain gene (NEFL)--a study of a possible pathogenous effect.
    Kochański A
    Folia Neuropathol; 2004; 42(3):187-90. PubMed ID: 15535039
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [Molecular genetics of inherited neuropathies].
    Takashima H
    Rinsho Shinkeigaku; 2006 Jan; 46(1):1-18. PubMed ID: 16541790
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot-Marie-Tooth disease-linked mutations in NFL and HSPB1.
    Zhai J; Lin H; Julien JP; Schlaepfer WW
    Hum Mol Genet; 2007 Dec; 16(24):3103-16. PubMed ID: 17881652
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity.
    Lus G; Nelis E; Jordanova A; Löfgren A; Cavallaro T; Ammendola A; Melone MA; Rizzuto N; Timmerman V; Cotrufo R; De Jonghe P
    Neurology; 2003 Oct; 61(7):988-90. PubMed ID: 14557576
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21.
    Ismailov SM; Fedotov VP; Dadali EL; Polyakov AV; Van Broeckhoven C; Ivanov VI; De Jonghe P; Timmerman V; Evgrafov OV
    Eur J Hum Genet; 2001 Aug; 9(8):646-50. PubMed ID: 11528513
    [TBL] [Abstract][Full Text] [Related]  

  • 34. NEFL-Related Charcot-Marie Tooth Disease due to P440L Mutation in Two Italian Families: Expanding the Phenotype and Defining Modulating Factors.
    Petrucci A; Lispi L; Garibaldi M; Frezza E; Moro F; Massa R; Santorelli FM
    Eur Neurol; 2023; 86(3):185-192. PubMed ID: 36809754
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Phenotypic heterogeneity in patients with NEFL-related Charcot-Marie-Tooth disease.
    Kim HJ; Kim SB; Kim HS; Kwon HM; Park JH; Lee AJ; Lim SO; Nam SH; Hong YB; Chung KW; Choi BO
    Mol Genet Genomic Med; 2022 Feb; 10(2):e1870. PubMed ID: 35044100
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.
    Berciano J; García A; Gallardo E; Peeters K; Pelayo-Negro AL; Álvarez-Paradelo S; Gazulla J; Martínez-Tames M; Infante J; Jordanova A
    J Neurol; 2017 Aug; 264(8):1655-1677. PubMed ID: 28364294
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Nerve ultrasound in CMT2E/CMT1F due to NEFL mutation: Confirmation of an axonal pathology.
    Luigetti M; Padua L; Coraci D; Fabrizi GM; Romano A; Sabatelli M
    Clin Neurophysiol; 2016 Sep; 127(9):2990-2991. PubMed ID: 27458838
    [No Abstract]   [Full Text] [Related]  

  • 38. 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]  

  • 39. Genotype/phenotype correlations in X-linked dominant Charcot-Marie-Tooth disease.
    Hahn AF; Bolton CF; White CM; Brown WF; Tuuha SE; Tan CC; Ainsworth PJ
    Ann N Y Acad Sci; 1999 Sep; 883():366-82. PubMed ID: 10586261
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.
    Mersiyanova IV; Perepelov AV; Polyakov AV; Sitnikov VF; Dadali EL; Oparin RB; Petrin AN; Evgrafov OV
    Am J Hum Genet; 2000 Jul; 67(1):37-46. PubMed ID: 10841809
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 15.