BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

460 related articles for article (PubMed ID: 10841809)

  • 1. 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]  

  • 2. A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family.
    Georgiou DM; Zidar J; Korosec M; Middleton LT; Kyriakides T; Christodoulou K
    Neurogenetics; 2002 Oct; 4(2):93-6. PubMed ID: 12481988
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family.
    De Jonghe P; Timmerman V; FitzPatrick D; Spoelders P; Martin JJ; Van Broeckhoven C
    J Neurol Neurosurg Psychiatry; 1997 Jun; 62(6):570-3. PubMed ID: 9219740
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Charcot-Marie-Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2.
    Gemignani F; Marbini A
    J Neurol Sci; 2001 Feb; 184(1):1-9. PubMed ID: 11231025
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A.
    Saito M; Hayashi Y; Suzuki T; Tanaka H; Hozumi I; Tsuji S
    Neurology; 1997 Dec; 49(6):1630-5. PubMed ID: 9409358
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype.
    De Jonghe P; Timmerman V; Nelis E; De Vriendt E; Löfgren A; Ceuterick C; Martin JJ; Van Broeckhoven C
    Arch Neurol; 1999 Oct; 56(10):1283-8. PubMed ID: 10520946
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.
    Kwon JM; Elliott JL; Yee WC; Ivanovich J; Scavarda NJ; Moolsintong PJ; Goodfellow PJ
    Am J Hum Genet; 1995 Oct; 57(4):853-8. PubMed ID: 7573046
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24.
    Tang BS; Luo W; Xia K; Xiao JF; Jiang H; Shen L; Tang JG; Zhao GH; Cai F; Pan Q; Dai HP; Yang QD; Xia JH; Evgrafov OV
    Hum Genet; 2004 May; 114(6):527-33. PubMed ID: 15021985
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Genetic evaluation of inherited motor/sensory neuropathy.
    Chance PF
    Suppl Clin Neurophysiol; 2004; 57():228-42. PubMed ID: 16106622
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13.
    Timmerman V; De Jonghe P; Spoelders P; Simokovic S; Löfgren A; Nelis E; Vance J; Martin JJ; Van Broeckhoven C
    Neurology; 1996 May; 46(5):1311-8. PubMed ID: 8628473
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. Clinical and genetic heterogeneity of Charcot-Marie-Tooth disease.
    Hentati A; Lamy C; Melki J; Zuber M; Munnich A; de Recondo J
    Genomics; 1992 Jan; 12(1):155-7. PubMed ID: 1733853
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2.
    Yoshioka R; Dyck PJ; Chance PF
    Neurology; 1996 Feb; 46(2):569-71. PubMed ID: 8614538
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Whole-Genome Linkage Analysis with Whole-Exome Sequencing Identifies a Novel Frameshift Variant in NEFH in a Chinese Family with Charcot-Marie-Tooth 2: A Novel Variant in NEFH for Charcot-Marie-Tooth 2.
    Bian X; Lin P; Li J; Long F; Duan R; Yuan Q; Li Y; Gao F; Gao S; Wei S; Li X; Sun W; Gong Y; Yan C; Liu Q
    Neurodegener Dis; 2018; 18(2-3):74-83. PubMed ID: 29587262
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.
    Leal A; Morera B; Del Valle G ; Heuss D; Kayser C; Berghoff M; Villegas R; Hernández E; Méndez M; Hennies HC; Neundörfer B; Barrantes R; Reis A; Rautenstrauss B
    Am J Hum Genet; 2001 Jan; 68(1):269-74. PubMed ID: 11112660
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity.
    Pericak-Vance MA; Speer MC; Lennon F; West SG; Menold MM; Stajich JM; Wolpert CM; Slotterbeck BD; Saito M; Tim RW; Rozear MP; Middleton LT; Tsuji S; Vance JM
    Neurogenetics; 1997 Sep; 1(2):89-93. PubMed ID: 10732809
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Charcot-Marie-Tooth disease and related inherited neuropathies.
    Murakami T; Garcia CA; Reiter LT; Lupski JR
    Medicine (Baltimore); 1996 Sep; 75(5):233-50. PubMed ID: 8862346
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Axonal Charcot-Marie-Tooth disease and the neurofilament light gene (NF-L).
    Lupski JR
    Am J Hum Genet; 2000 Jul; 67(1):8-10. PubMed ID: 10848490
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 23.