BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

161 related articles for article (PubMed ID: 36947133)

  • 21. Dropped head syndrome as a manifestation of Charcot-Marie-Tooth disease type 4C.
    de Oliveira CM; Fussiger H; Winckler PB; Saute JAM
    Neuromuscul Disord; 2019 Feb; 29(2):138-141. PubMed ID: 30658898
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Rate of Changes in CMT Neuropathy and Examination Scores in Japanese Adult CMT1A Patients.
    Kitani-Morii F; Noto YI; Tsuji Y; Shiga K; Mizuta I; Nakagawa M; Mizuno T
    Front Neurol; 2020; 11():626. PubMed ID: 32765395
    [No Abstract]   [Full Text] [Related]  

  • 23. Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot-Marie-Tooth disease reveals a varied and unusual phenotypic spectrum.
    Kontogeorgiou Z; Nikolaou K; Kartanou C; Breza M; Panas M; Karadima G; Koutsis G
    J Peripher Nerv Syst; 2019 Mar; 24(1):125-130. PubMed ID: 30653784
    [TBL] [Abstract][Full Text] [Related]  

  • 24. AAV9-mediated SH3TC2 gene replacement therapy targeted to Schwann cells for the treatment of CMT4C.
    Georgiou E; Kagiava A; Sargiannidou I; Schiza N; Stavrou M; Richter J; Tryfonos C; Heslegrave A; Zetterberg H; Christodoulou C; Kleopa KA
    Mol Ther; 2023 Nov; 31(11):3290-3307. PubMed ID: 37641403
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Characteristics of Clinical and Electrophysiological Pattern in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth 4C.
    Duan X; Ma Y; Fan D; Liu X
    Front Neurol; 2021; 12():598168. PubMed ID: 33643188
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Charcot-Marie-Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence.
    Arntzen KA; Høyer H; Ørstavik K; Tallaksen C; Vedeler C; Østern R; Nebuchennykh M; Braathen GJ; Fagerheim T
    Neuromuscul Disord; 2018 Aug; 28(8):639-645. PubMed ID: 30001926
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Characterisation of Patients with
    Nagappa M; Sharma S; Govindaraj P; Chickabasaviah YT; Siram R; Shroti A; Seshagiri DV; Debnath M; Sinha S; Bindu PS; Taly AB
    Neurol India; 2023; 71(5):940-945. PubMed ID: 37929431
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.
    Senderek J; Bergmann C; Stendel C; Kirfel J; Verpoorten N; De Jonghe P; Timmerman V; Chrast R; Verheijen MH; Lemke G; Battaloglu E; Parman Y; Erdem S; Tan E; Topaloglu H; Hahn A; Müller-Felber W; Rizzuto N; Fabrizi GM; Stuhrmann M; Rudnik-Schöneborn S; Züchner S; Michael Schröder J; Buchheim E; Straub V; Klepper J; Huehne K; Rautenstrauss B; Büttner R; Nelis E; Zerres K
    Am J Hum Genet; 2003 Nov; 73(5):1106-19. PubMed ID: 14574644
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Charcot-Marie-Tooth disease type 4C in Japan: report of a case.
    Iguchi M; Hashiguchi A; Ito E; Toda K; Urano M; Shimizu Y; Takeuchi C; Saito K; Takashima H; Uchiyama S
    Muscle Nerve; 2013 Feb; 47(2):283-6. PubMed ID: 23281072
    [TBL] [Abstract][Full Text] [Related]  

  • 30. High frequency of SH3TC2 mutations in Czech HMSN I patients.
    Laššuthová P; Mazanec R; Vondráček P; Sišková D; Haberlová J; Sabová J; Seeman P
    Clin Genet; 2011 Oct; 80(4):334-45. PubMed ID: 21291453
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.
    Rossor AM; Morrow JM; Polke JM; Murphy SM; Houlden H; ; Laura M; Manji H; Blake J; Reilly MM
    Neuromuscul Disord; 2017 Jan; 27(1):50-56. PubMed ID: 27816334
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Phenotypic variability of CMT4C in a French-Canadian kindred.
    Varley TL; Bourque PR; Baker SK
    Muscle Nerve; 2015 Sep; 52(3):444-9. PubMed ID: 25737037
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A Patient With Charcot-Marie-Tooth Disease Type 4C (CMT4C) Presenting With Muscle Fasciculations and Motor Neuropathy.
    Peddareddygari LR; Grewal RP
    Cureus; 2024 Apr; 16(4):e57550. PubMed ID: 38707135
    [TBL] [Abstract][Full Text] [Related]  

  • 34. The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C.
    Skott H; Muntean-Firanescu C; Samuelsson K; Verrecchia L; Svenningsson P; Malmgren H; Cananau C; Espay AJ; Press R; Solders G; Paucar M
    Cerebellum Ataxias; 2019; 6():9. PubMed ID: 31346473
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.
    Yger M; Stojkovic T; Tardieu S; Maisonobe T; Brice A; Echaniz-Laguna A; Alembik Y; Girard S; Cazeneuve C; Leguern E; Dubourg O
    J Peripher Nerv Syst; 2012 Mar; 17(1):112-22. PubMed ID: 22462672
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.
    Taioli F; Cabrini I; Cavallaro T; Acler M; Fabrizi GM
    Brain; 2011 Feb; 134(Pt 2):608-17. PubMed ID: 21252112
    [TBL] [Abstract][Full Text] [Related]  

  • 38. CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.
    Fridman V; Bundy B; Reilly MM; Pareyson D; Bacon C; Burns J; Day J; Feely S; Finkel RS; Grider T; Kirk CA; Herrmann DN; Laurá M; Li J; Lloyd T; Sumner CJ; Muntoni F; Piscosquito G; Ramchandren S; Shy R; Siskind CE; Yum SW; Moroni I; Pagliano E; Zuchner S; Scherer SS; Shy ME;
    J Neurol Neurosurg Psychiatry; 2015 Aug; 86(8):873-8. PubMed ID: 25430934
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry.
    Pisciotta C; Bertini A; Tramacere I; Manganelli F; Fabrizi GM; Schenone A; Tozza S; Cavallaro T; Taioli F; Ferrarini M; Grandis M; Bellone E; Mandich P; Previtali SC; Falzone Y; Allegri I; Padua L; Pazzaglia C; Quattrone A; Valentino P; Gentile L; Russo M; Calabrese D; Moroni I; Pagliano E; Saveri P; Magri S; Baratta S; Taroni F; Mazzeo A; Santoro L; Vita G; Pareyson D;
    Eur J Neurol; 2023 Aug; 30(8):2461-2470. PubMed ID: 37170966
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C.
    Cipriani S; Phan V; Médard JJ; Horvath R; Lochmüller H; Chrast R; Roos A; Spendiff S
    Int J Mol Sci; 2018 Dec; 19(12):. PubMed ID: 30562927
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.