BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

160 related articles for article (PubMed ID: 16616847)

  • 1. Novel myelin protein zero mutation (Arg36Trp) in a patient with acute onset painful neuropathy.
    Burns TM; Phillips LH; Dimberg EL; Vaught BK; Klein CJ
    Neuromuscul Disord; 2006 May; 16(5):308-10. PubMed ID: 16616847
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Phenotypic clustering in MPZ mutations.
    Shy ME; Jáni A; Krajewski K; Grandis M; Lewis RA; Li J; Shy RR; Balsamo J; Lilien J; Garbern JY; Kamholz J
    Brain; 2004 Feb; 127(Pt 2):371-84. PubMed ID: 14711881
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families.
    Mazzeo A; Muglia M; Rodolico C; Toscano A; Patitucci A; Quattrone A; Messina C; Vita G
    Acta Neurol Scand; 2008 Nov; 118(5):328-32. PubMed ID: 18422810
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case.
    Warner LE; Shohat M; Shorer Z; Lupski JR
    Hum Mutat; 1997; 10(1):21-4. PubMed ID: 9222756
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family.
    Smit LS; Roofthooft D; van Ruissen F; Baas F; van Doorn PA
    Neuromuscul Disord; 2008 Jan; 18(1):59-62. PubMed ID: 17825553
    [TBL] [Abstract][Full Text] [Related]  

  • 6. New mutation of the MPZ gene in a family with the Dejerine-Sottas disease phenotype.
    Floroskufi P; Panas M; Karadima G; Vassilopoulos D
    Muscle Nerve; 2007 May; 35(5):667-9. PubMed ID: 17143884
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Late-onset hereditary axonal neuropathies.
    Bennett CL; Lawson VH; Brickell KL; Isaacs K; Seltzer W; Lipe HP; Weiss MD; Carter GT; Flanigan KM; Chance PF; Bird TD
    Neurology; 2008 Jul; 71(1):14-20. PubMed ID: 18495953
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Marked phenotypic variation in a family with a new myelin protein zero mutation.
    Szabo A; Züchner S; Siska E; Mechler F; Molnar MJ
    Neuromuscul Disord; 2005 Nov; 15(11):760-3. PubMed ID: 16198109
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies.
    Li J; Ghandour K; Radovanovic D; Shy RR; Krajewski KM; Shy ME; Nicholson GA
    Arch Neurol; 2007 Jul; 64(7):974-8. PubMed ID: 17620487
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Severe demyelinating hypertrophic polyneuropathy caused by a de novo frameshift mutation within the intracellular domain of myelin protein zero (MPZ/P0).
    Zschüntzsch J; Dibaj P; Pilgram S; Kötting J; Gerding WM; Neusch C
    J Neurol Sci; 2009 Jun; 281(1-2):113-5. PubMed ID: 19344920
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Dejerine-Sottas' neuropathy caused by the missense mutation PMP22 Ser72Leu.
    Marques W; Neto JM; Barreira AA
    Acta Neurol Scand; 2004 Sep; 110(3):196-9. PubMed ID: 15285778
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Central nervous system involvement in hereditary neuropathy with liability to pressure palsies: description of a large family with this association.
    Sanahuja J; Franco E; Rojas-García R; Gallardo E; Combarros O; Begué R; Granés P; Illa I
    Arch Neurol; 2005 Dec; 62(12):1911-4. PubMed ID: 16344349
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Peripheral neuropathies caused by mutations in the myelin protein zero.
    Shy ME
    J Neurol Sci; 2006 Mar; 242(1-2):55-66. PubMed ID: 16414078
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy.
    Dacci P; Taroni F; Bella ED; Milani M; Pareyson D; Morbin M; Lauria G
    J Peripher Nerv Syst; 2012 Dec; 17(4):422-5. PubMed ID: 23279346
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical variability in type I familial amyloid polyneuropathy (Val30Met): comparison between late- and early-onset cases in Portugal.
    Conceição I; De Carvalho M
    Muscle Nerve; 2007 Jan; 35(1):116-8. PubMed ID: 16969832
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration.
    Li J; Bai Y; Ianakova E; Grandis M; Uchwat F; Trostinskaia A; Krajewski KM; Garbern J; Kupsky WJ; Shy ME
    J Comp Neurol; 2006 Sep; 498(2):252-65. PubMed ID: 16856127
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review).
    England JD; Gronseth GS; Franklin G; Carter GT; Kinsella LJ; Cohen JA; Asbury AK; Szigeti K; Lupski JR; Latov N; Lewis RA; Low PA; Fisher MA; Herrmann D; Howard JF; Lauria G; Miller RG; Polydefkis M; Sumner AJ; ; ;
    Muscle Nerve; 2009 Jan; 39(1):116-25. PubMed ID: 19086068
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Polyneuropathies in teenagers: a clinicopathological study of 45 cases.
    Kararizou E; Karandreas N; Davaki P; Davou R; Vassilopoulos D
    Neuromuscul Disord; 2006 May; 16(5):304-7. PubMed ID: 16616844
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A Japanese family with early-onset ataxia with motor and sensory neuropathy.
    Kobayashi S; Takuma H; Murayama S; Sakurai M; Kanazawa I
    J Neurol Sci; 2007 Mar; 254(1-2):44-8. PubMed ID: 17258771
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Complexity of the Hereditary Motor and Sensory Neuropathies: Clinical and Cellular Characterization of the MPZ p.D90E Mutation.
    Lupo V; Pascual-Pascual SI; Sancho P; Calpena E; Gutiérrez-Molina M; Mateo-Martínez G; Espinós C; Arriola-Pereda G
    J Child Neurol; 2015 Oct; 30(11):1544-8. PubMed ID: 25694466
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.