BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

151 related articles for article (PubMed ID: 30992180)

  • 21. First case report of Charcot-Marie-Tooth disease type 2CC with a frameshift mutation of NEFH gene in Greece.
    Charalampopoulou A; Veltsista D; Taraviras S; Chroni E
    Neurol Sci; 2021 Oct; 42(10):4377-4379. PubMed ID: 34275023
    [No Abstract]   [Full Text] [Related]  

  • 22. 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]  

  • 23. NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype.
    Berciano J; García A; Peeters K; Gallardo E; De Vriendt E; Pelayo-Negro AL; Infante J; Jordanova A
    J Neurol; 2015 May; 262(5):1289-300. PubMed ID: 25877835
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. The first Portuguese family with NEFL-related Charcot-Marie-Tooth type 2 disease.
    Machado R; Pinto-Basto J; Negrão L
    Acta Myol; 2019 Sep; 38(3):180-183. PubMed ID: 31788662
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
    Jordanova A; De Jonghe P; Boerkoel CF; Takashima H; De Vriendt E; Ceuterick C; Martin JJ; Butler IJ; Mancias P; Papasozomenos SCh; Terespolsky D; Potocki L; Brown CW; Shy M; Rita DA; Tournev I; Kremensky I; Lupski JR; Timmerman V
    Brain; 2003 Mar; 126(Pt 3):590-7. PubMed ID: 12566280
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Exacerbation of Charcot-Marie-Tooth type 2E neuropathy following traumatic nerve injury.
    Villalón E; Dale JM; Jones M; Shen H; Garcia ML
    Brain Res; 2015 Nov; 1627():143-53. PubMed ID: 26423936
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype.
    Adebola AA; Di Castri T; He CZ; Salvatierra LA; Zhao J; Brown K; Lin CS; Worman HJ; Liem RK
    Hum Mol Genet; 2015 Apr; 24(8):2163-74. PubMed ID: 25552649
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Intermediate forms of Charcot-Marie-Tooth neuropathy: a review.
    Nicholson G; Myers S
    Neuromolecular Med; 2006; 8(1-2):123-30. PubMed ID: 16775371
    [TBL] [Abstract][Full Text] [Related]  

  • 31. NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1.
    Shin JS; Chung KW; Cho SY; Yun J; Hwang SJ; Kang SH; Cho EM; Kim SM; Choi BO
    J Hum Genet; 2008; 53(10):936-940. PubMed ID: 18758688
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport.
    Brownlees J; Ackerley S; Grierson AJ; Jacobsen NJ; Shea K; Anderton BH; Leigh PN; Shaw CE; Miller CC
    Hum Mol Genet; 2002 Nov; 11(23):2837-44. PubMed ID: 12393795
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.
    Sevilla T; Sivera R; Martínez-Rubio D; Lupo V; Chumillas MJ; Calpena E; Dopazo J; Vílchez JJ; Palau F; Espinós C
    Eur J Neurol; 2015 Dec; 22(12):1548-55. PubMed ID: 26204789
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement.
    Noury JB; Maisonobe T; Richard P; Delague V; Malfatti E; Stojkovic T
    Muscle Nerve; 2018 Feb; 57(2):330-334. PubMed ID: 28224639
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.
    De Jonghe P; Mersivanova I; Nelis E; Del Favero J; Martin JJ; Van Broeckhoven C; Evgrafov O; Timmerman V
    Ann Neurol; 2001 Feb; 49(2):245-9. PubMed ID: 11220745
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.
    Rebelo AP; Abrams AJ; Cottenie E; Horga A; Gonzalez M; Bis DM; Sanchez-Mejias A; Pinto M; Buglo E; Markel K; Prince J; Laura M; Houlden H; Blake J; Woodward C; Sweeney MG; Holton JL; Hanna M; Dallman JE; Auer-Grumbach M; Reilly MM; Zuchner S
    Am J Hum Genet; 2016 Apr; 98(4):597-614. PubMed ID: 27040688
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L.
    Nakhro K; Park JM; Kim YJ; Yoon BR; Yoo JH; Koo H; Choi BO; Chung KW
    Neuromuscul Disord; 2013 Aug; 23(8):656-63. PubMed ID: 23796487
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.
    Houlden H; Reilly MM
    Neuromolecular Med; 2006; 8(1-2):43-62. PubMed ID: 16775366
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.