BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

263 related articles for article (PubMed ID: 7504284)

  • 21. 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]  

  • 22. 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]  

  • 23. A RsaI RFLP at the human myelin protein zero (MPZ) locus.
    Latour P; Bonnebouche C; Bost M; Diraison P; Chapon F; Boucherat M; Vandenberghe A
    Clin Genet; 1994 Oct; 46(4):327-8. PubMed ID: 7530611
    [No Abstract]   [Full Text] [Related]  

  • 24. The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study.
    Fabrizi GM; Tamburin S; Cavallaro T; Cabrini I; Ferrarini M; Taioli F; Magrinelli F; Zanette G
    Clin Neurophysiol; 2018 Jan; 129(1):21-32. PubMed ID: 29136549
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein PO gene.
    Blanquet-Grossard F; Pham-Dinh D; Dautigny A; Latour P; Bonnebouche C; Corbillon E; Chazot G; Vandenberghe A
    Clin Genet; 1995 Dec; 48(6):281-3. PubMed ID: 8835320
    [TBL] [Abstract][Full Text] [Related]  

  • 26. MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis.
    Choi BO; Kim SB; Kanwal S; Hyun YS; Park SW; Koo H; Yoo JH; Hyun JW; Park KD; Choi KG; Chung KW
    Int J Mol Med; 2011 Sep; 28(3):389-96. PubMed ID: 21503568
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. 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]  

  • 29. 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]  

  • 30. 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]  

  • 31. 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]  

  • 32. 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]  

  • 33. 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]  

  • 34. 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]  

  • 35. In silico and in vitro effects of the I30T mutation on myelin protein zero instability in the cell membrane.
    Ghanavatinejad F; Pourteymourfard-Tabrizi Z; Mahnam K; Doosti A; Mehri-Ghahfarrokhi A; Pourhadi M; Azimeh Hosseini S; Hashemzadeh Chaleshtori M; Soltanzadeh P; Jami MS
    Cell Biol Int; 2020 Feb; 44(2):671-683. PubMed ID: 31769568
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A novel MPZ mutation in Charcot-Marie-Tooth disease type 1B with focally folded myelin and multiple entrapment neuropathies.
    Iida M; Koike H; Ando T; Sugiura M; Yamamoto M; Tanaka F; Sobue G
    Neuromuscul Disord; 2012 Feb; 22(2):166-9. PubMed ID: 21940171
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Genetic and clinical spectrums in Korean Charcot-Marie-Tooth disease patients with myelin protein zero mutations.
    Kim HJ; Nam SH; Kwon HM; Lim SO; Park JH; Kim HS; Kim SB; Lee KS; Lee JE; Choi BO; Chung KW
    Mol Genet Genomic Med; 2021 Jun; 9(6):e1678. PubMed ID: 33825325
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Peripheral myelin modification in CMT1B correlates with MPZ gene mutations.
    Lagueny A; Latour P; Vital A; Rajabally Y; Le Masson G; Ferrer X; Bernard I; Julien J; Vital C; Vandenberghe A
    Neuromuscul Disord; 1999 Oct; 9(6-7):361-7. PubMed ID: 10545037
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Immune-mediated inflammatory polyneuropathy overlapping Charcot-Marie-Tooth 1B.
    Escorcio-Bezerra ML; Pinto WBVR; Bichuetti DB; Souza PVS; Nunes RM; Silva LHL; Lima KDF; Manzano GM; Oliveira ASB; Baeta AM
    J Clin Neurosci; 2020 May; 75():228-231. PubMed ID: 32201027
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Novel mutation in the
    Kozina AA; Baryshnikova NV; Ilinskaya AY; Kim AA; Plotnikov NA; Pogodina NA; Surkova EI; Shatalov PA; Ilinsky VV
    J Int Med Res; 2022 Dec; 50(12):3000605221139718. PubMed ID: 36567457
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 14.