BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

235 related articles for article (PubMed ID: 27882734)

  • 1. Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C.
    Ichikawa K; Numasawa K; Takeshita S; Hashiguchi A; Takashima H
    Pediatr Int; 2016 Nov; 58(11):1252-1254. PubMed ID: 27882734
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.
    Azzedine H; Ravisé N; Verny C; Gabrëels-Festen A; Lammens M; Grid D; Vallat JM; Durosier G; Senderek J; Nouioua S; Hamadouche T; Bouhouche A; Guilbot A; Stendel C; Ruberg M; Brice A; Birouk N; Dubourg O; Tazir M; LeGuern E
    Neurology; 2006 Aug; 67(4):602-6. PubMed ID: 16924012
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).
    Piscosquito G; Saveri P; Magri S; Ciano C; Gandioli C; Morbin M; Bella DD; Moroni I; Taroni F; Pareyson D
    J Peripher Nerv Syst; 2016 Sep; 21(3):142-9. PubMed ID: 27231023
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy.
    Houlden H; Laura M; Ginsberg L; Jungbluth H; Robb SA; Blake J; Robinson S; King RH; Reilly MM
    Neuromuscul Disord; 2009 Apr; 19(4):264-9. PubMed ID: 19272779
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges.
    Jerath NU; Mankodi A; Crawford TO; Grunseich C; Baloui H; Nnamdi-Emeratom C; Schindler AB; Heiman-Patterson T; Chrast R; Shy ME
    Muscle Nerve; 2018 May; 57(5):749-755. PubMed ID: 28981955
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Compound heterozygous mutations of SH3TC2 in Charcot-Marie-Tooth disease type 4C patients.
    Lee AJ; Nam SH; Park JM; Kanwal S; Choi YJ; Lee HJ; Lee KS; Lee JE; Park JS; Choi BO; Chung KW
    J Hum Genet; 2019 Sep; 64(9):961-965. PubMed ID: 31227790
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.
    Yuan JH; Hashiguchi A; Okamoto Y; Yoshimura A; Ando M; Shiomi K; Saito K; Takahashi M; Ichinose K; Ohmichi T; Ichikawa K; Tadashi A; Takigawa H; Shibayama H; Takashima H
    J Hum Genet; 2018 Mar; 63(3):281-287. PubMed ID: 29321516
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Screening for SH3TC2 variants in Charcot-Marie-Tooth disease in a cohort of Chinese patients.
    Sun B; He ZQ; Li YR; Bai JM; Wang HR; Wang HF; Cui F; Yang F; Huang XS
    Acta Neurol Belg; 2022 Oct; 122(5):1169-1175. PubMed ID: 33587240
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.
    Sevilla T; Martínez-Rubio D; Márquez C; Paradas C; Colomer J; Jaijo T; Millán JM; Palau F; Espinós C
    Clin Genet; 2013 Jun; 83(6):565-70. PubMed ID: 22978647
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system.
    Arnaud E; Zenker J; de Preux Charles AS; Stendel C; Roos A; Médard JJ; Tricaud N; Kleine H; Luscher B; Weis J; Suter U; Senderek J; Chrast R
    Proc Natl Acad Sci U S A; 2009 Oct; 106(41):17528-33. PubMed ID: 19805030
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.
    Boubaker C; Hsairi-Guidara I; Castro C; Ayadi I; Boyer A; Kerkeni E; Courageot J; Abid I; Bernard R; Bonello-Palot N; Kamoun F; Cheikh HB; Lévy N; Triki C; Delague V
    Ann Hum Genet; 2013 Jul; 77(4):336-43. PubMed ID: 23550889
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy.
    Schiza N; Georgiou E; Kagiava A; Médard JJ; Richter J; Tryfonos C; Sargiannidou I; Heslegrave AJ; Rossor AM; Zetterberg H; Reilly MM; Christodoulou C; Chrast R; Kleopa KA
    Brain; 2019 May; 142(5):1227-1241. PubMed ID: 30907403
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical, in silico, and experimental evidence for pathogenicity of two novel splice site mutations in the SH3TC2 gene.
    Laššuthová P; Gregor M; Sarnová L; Machalová E; Sedláček R; Seeman P
    J Neurogenet; 2012 Sep; 26(3-4):413-20. PubMed ID: 22950825
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 12.