BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

193 related articles for article (PubMed ID: 36952089)

  • 1. 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]  

  • 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. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.
    Bremer J; Meinhardt A; Katona I; Senderek J; Kämmerer-Gassler EK; Roos A; Ferbert A; Schröder JM; Nikolin S; Nolte K; Sellhaus B; Popzhelyazkova K; Tacke F; Schara-Schmidt U; Neuen-Jacob E; de Groote CC; de Jonghe P; Timmerman V; Baets J; Weis J
    Brain Pathol; 2024 Jan; 34(1):e13200. PubMed ID: 37581289
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.
    Laurà M; Milani M; Morbin M; Moggio M; Ripolone M; Jann S; Scaioli V; Taroni F; Pareyson D
    J Neurol Neurosurg Psychiatry; 2007 Nov; 78(11):1263-6. PubMed ID: 17940173
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Dysmyelinating and demyelinating Charcot-Marie-Tooth disease associated with two myelin protein zero gene mutations.
    Drac H; Kabzińska D; Moszyńska I; Strugalska-Cynowska H; Hausmanowa-Petrusewicz I; Kochański A
    J Appl Genet; 2011 May; 52(2):177-83. PubMed ID: 21107784
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Charcot-Marie-Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy.
    Gemignani F; Percesepe A; Gualandi F; Allegri I; Bellanova MF; Nuredini A; Saccani E; Ambrosini E; Barili V; Uliana V
    Int J Mol Sci; 2024 Jan; 25(3):. PubMed ID: 38338934
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Upregulation of large myelin protein zero leads to Charcot-Marie-Tooth disease-like neuropathy in mice.
    Otani Y; Ohno N; Cui J; Yamaguchi Y; Baba H
    Commun Biol; 2020 Mar; 3(1):121. PubMed ID: 32170207
    [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. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Homomeric interactions of the MPZ Ig domain and their relation to Charcot-Marie-Tooth disease.
    Ptak CP; Peterson TA; Hopkins JB; Ahern CA; Shy ME; Piper RC
    Brain; 2023 Dec; 146(12):5110-5123. PubMed ID: 37542466
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.