BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

148 related articles for article (PubMed ID: 12707985)

  • 1. Clinical and genetic analysis of CMT1B in a Nigerian family.
    Kakar R; Ma W; Dutra A; Seltzer WK; Grewal RP
    Muscle Nerve; 2003 May; 27(5):628-30. PubMed ID: 12707985
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Clinical and genetic description of a family with Charcot-Marie-Tooth disease type 1B from a transmembrane MPZ mutation.
    Eggers SD; Keswani SC; Melli G; Cornblath DR
    Muscle Nerve; 2004 Jun; 29(6):867-9. PubMed ID: 15170620
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease.
    Santoro L; Manganelli F; Di Maria E; Bordo D; Cassandrini D; Ajmar F; Mandich P; Bellone E
    J Neurol Neurosurg Psychiatry; 2004 Feb; 75(2):262-5. PubMed ID: 14742601
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report.
    Kochański A; Drac H; Jedrzejowska H; Hausmanowa-Petrusewicz I
    Eur J Neurol; 2003 Sep; 10(5):547-9. PubMed ID: 12940837
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Charcot-Marie-Tooth 1B caused by expansion of a familial myelin protein zero (MPZ) gene duplication.
    Speevak MD; Farrell SA
    Eur J Med Genet; 2013 Oct; 56(10):566-9. PubMed ID: 23811036
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
    Sanmaneechai O; Feely S; Scherer SS; Herrmann DN; Burns J; Muntoni F; Li J; Siskind CE; Day JW; Laura M; Sumner CJ; Lloyd TE; Ramchandren S; Shy RR; Grider T; Bacon C; Finkel RS; Yum SW; Moroni I; Piscosquito G; Pareyson D; Reilly MM; Shy ME;
    Brain; 2015 Nov; 138(Pt 11):3180-92. PubMed ID: 26310628
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.
    Roa BB; Warner LE; Garcia CA; Russo D; Lovelace R; Chance PF; Lupski JR
    Hum Mutat; 1996; 7(1):36-45. PubMed ID: 8664899
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B.
    Sabet A; Li J; Ghandour K; Pu Q; Wu X; Kamholz J; Shy ME; Cambi F
    Neurology; 2006 Oct; 67(7):1141-6. PubMed ID: 17030746
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients.
    Su Y; Brooks DG; Li L; Lepercq J; Trofatter JA; Ravetch JV; Lebo RV
    Proc Natl Acad Sci U S A; 1993 Nov; 90(22):10856-60. PubMed ID: 7504284
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met.
    Senderek J; Hermanns B; Lehmann U; Bergmann C; Marx G; Kabus C; Timmerman V; Stoltenburg-Didinger G; Schröder JM
    Brain Pathol; 2000 Apr; 10(2):235-48. PubMed ID: 10764043
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations in the Myelin Protein Zero result in a spectrum of Charcot-Marie-Tooth phenotypes.
    Kochański A
    Acta Myol; 2004 May; 23(1):6-9. PubMed ID: 15298082
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene.
    Marrosu MG; Vaccargiu S; Marrosu G; Vannelli A; Cianchetti C; Muntoni F
    Neurology; 1998 May; 50(5):1397-401. PubMed ID: 9595994
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family.
    Leal A; Berghoff C; Berghoff M; Del Valle G; Contreras C; Montoya O; Hernández E; Barrantes R; Schlötzer-Schrehardt U; Neundörfer B; Reis A; Rautenstrauss B; Heuss D
    Neurogenetics; 2003 Aug; 4(4):191-7. PubMed ID: 12845552
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel mutation of myelin protein zero associated with late-onset predominantly axonal Charcot-Marie-Tooth disease.
    Marttila M; Rautenstrauss B; Huehne K; Laitinen V; Majamaa K; Kärppä M
    J Neurol; 2012 Aug; 259(8):1585-9. PubMed ID: 22222859
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene.
    Kochański A; Kabzińska D; Drac H; Ryniewicz B; Rowińska-Marcińska K; Hausmanowa-Petrusewicz I
    Eur J Paediatr Neurol; 2004; 8(4):221-4. PubMed ID: 15261887
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel MPZ gene mutation in exon 2 causing late-onset demyelinating Charcot-Marie-Tooth disease.
    Chavada G; Rao DG; Martindale J; Hadjivassiliou M
    J Clin Neuromuscul Dis; 2012 Jun; 13(4):206-8. PubMed ID: 22622165
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero.
    Fabrizi GM; Taioli F; Cavallaro T; Rigatelli F; Simonati A; Mariani G; Perrone P; Rizzuto N
    Acta Neuropathol; 2000 Sep; 100(3):299-304. PubMed ID: 10965800
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene.
    Chapon F; Latour P; Diraison P; Schaeffer S; Vandenberghe A
    J Neurol Neurosurg Psychiatry; 1999 Jun; 66(6):779-82. PubMed ID: 10329755
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.
    Auer-Grumbach M; Strasser-Fuchs S; Robl T; Windpassinger C; Wagner K
    Neurology; 2003 Nov; 61(10):1435-7. PubMed ID: 14638973
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.