BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

340 related articles for article (PubMed ID: 15094849)

  • 1. Screening of the myelin protein zero gene in patients with Charcot-Marie-Tooth disease.
    Nowakowski A; Kochański A
    Acta Biochim Pol; 2004; 51(1):273-80. PubMed ID: 15094849
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1.
    Lee YC; Soong BW; Lin KP; Lee HY; Wu ZA; Kao KP
    J Neurol Sci; 2004 Apr; 219(1-2):95-100. PubMed ID: 15050444
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
    Numakura C; Lin C; Ikegami T; Guldberg P; Hayasaka K
    Hum Mutat; 2002 Nov; 20(5):392-8. PubMed ID: 12402337
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
    Mersiyanova IV; Ismailov SM; Polyakov AV; Dadali EL; Fedotov VP; Nelis E; Löfgren A; Timmerman V; van Broeckhoven C; Evgrafov OV
    Hum Mutat; 2000; 15(4):340-7. PubMed ID: 10737979
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. [PCR in the gene diagnosis of Charcot-Marie-Tooth disease].
    Xiao J; Tang B; Xia J
    Zhonghua Yi Xue Za Zhi; 2001 Feb; 81(3):138-41. PubMed ID: 11798863
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B.
    Latour P; Blanquet F; Nelis E; Bonnebouche C; Chapon F; Diraison P; Ollagnon E; Dautigny A; Pham-Dinh D; Chazot G
    Hum Mutat; 1995; 6(1):50-4. PubMed ID: 7550231
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
    Huehne K; Benes V; Thiel C; Kraus C; Kress W; Hoeltzenbein M; Ploner CJ; Kotzian J; Reis A; Rott HD; Rautenstrauss BW
    Hum Mutat; 2003 Jan; 21(1):100. PubMed ID: 12497641
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Altered trafficking and adhesion function of MPZ mutations and phenotypes of Charcot-Marie-Tooth disease 1B.
    Matsuyama W; Nakagawa M; Takashima H; Osame M
    Acta Neuropathol; 2002 May; 103(5):501-8. PubMed ID: 11935267
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.
    Kochanski A; Drac H; Kabzińska D; Hausmanowa-Petrusewicz I
    Neuromuscul Disord; 2004 Mar; 14(3):229-32. PubMed ID: 15036333
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Charcot-Marie-Tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene.
    Banchs I; Casasnovas C; Montero J; Volpini V; Martínez-Matos JA
    Muscle Nerve; 2010 Aug; 42(2):184-8. PubMed ID: 20544920
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. A new MPZ mutation associated with a mild CMT1 phenotype presenting with recurrent nerve compression.
    Magot A; Latour P; Mussini JM; Mourtada R; Guiheneuc P; Pereon Y
    Muscle Nerve; 2008 Aug; 38(2):1055-9. PubMed ID: 18663734
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia.
    Luigetti M; Modoni A; Renna R; Silvestri G; Ricci E; Montano N; Tasca G; Papacci M; Monforte M; Conte A; Pomponi MG; Sabatelli M
    Clin Neurol Neurosurg; 2010 Nov; 112(9):794-7. PubMed ID: 20537790
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Two novel mutations in the MPZ gene coding region in Charcot-Marie-Tooth type 1 patients of Turkish origin: S54P, [I30del; GVYI29ins].
    Bissar-Tadmouri N; Gulsen-Parman Y; Latour P; Deymeer F; Serdaroglu P; Vandenberghe A; Battaloglu E
    Hum Mutat; 1999 Nov; 14(5):449. PubMed ID: 10533074
    [No Abstract]   [Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 17.