BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

200 related articles for article (PubMed ID: 36567457)

  • 1. 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]  

  • 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. 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]  

  • 4. 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]  

  • 5. Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.
    Hattori N; Yamamoto M; Yoshihara T; Koike H; Nakagawa M; Yoshikawa H; Ohnishi A; Hayasaka K; Onodera O; Baba M; Yasuda H; Saito T; Nakashima K; Kira J; Kaji R; Oka N; Sobue G;
    Brain; 2003 Jan; 126(Pt 1):134-51. PubMed ID: 12477701
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Complete Loss of Myelin protein zero (MPZ) in a patient with a late onset Charcot-Marie-Tooth (CMT).
    Gharesouran J; Hosseinzadeh H; Naghiloo A; Ghafouri-Fard S; Hussen BM; Taheri M; Rezazadeh M; Samadian M
    Metab Brain Dis; 2023 Aug; 38(6):1963-1970. PubMed ID: 36952089
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.
    Bergamin G; Boaretto F; Briani C; Pegoraro E; Cacciavillani M; Martinuzzi A; Muglia M; Vettori A; Vazza G; Mostacciuolo ML
    Neuromolecular Med; 2014 Sep; 16(3):540-50. PubMed ID: 24819634
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies.
    Østern R; Fagerheim T; Hjellnes H; Nygård B; Mellgren SI; Nilssen Ø
    BMC Med Genet; 2013 Sep; 14():94. PubMed ID: 24053775
    [TBL] [Abstract][Full Text] [Related]  

  • 15. MPZ gene variant site in Chinese patients with Charcot-Marie-Tooth disease.
    Hao X; Li C; Lv Y; Zhou T; Tian H; Ma Y; Ding J; Li X; Wang Y; Wang L; Yang P
    Mol Genet Genomic Med; 2022 Apr; 10(4):e1890. PubMed ID: 35174662
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
    Bort S; Nelis E; Timmerman V; Sevilla T; Cruz-Martínez A; Martínez F; Millán JM; Arpa J; Vílchez JJ; Prieto F; Van Broeckhoven C; Palau F
    Hum Genet; 1997 Jun; 99(6):746-54. PubMed ID: 9187667
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity.
    Young P; Grote K; Kuhlenbäumer G; Debus O; Kurlemann H; Halfter H; Funke H; Ringelstein EB; Stögbauer F
    J Neurol; 2001 May; 248(5):410-5. PubMed ID: 11437164
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.