These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

115 related items for PubMed ID: 12578939

  • 1. Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene.
    Sambuughin N, de Bantel A, McWilliams S, Sivakumar K.
    Neurology; 2003 Feb 11; 60(3):506-8. PubMed ID: 12578939
    [Abstract] [Full Text] [Related]

  • 2.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 3. Cochlear implantation in a patient with deafness induced by Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathies).
    Postelmans JT, Stokroos RJ.
    J Laryngol Otol; 2006 Jun 11; 120(6):508-10. PubMed ID: 16772060
    [Abstract] [Full Text] [Related]

  • 4.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 5. Genetic epidemiology of Charcot-Marie-Tooth disease.
    Braathen GJ.
    Acta Neurol Scand Suppl; 2012 Jun 11; (193):iv-22. PubMed ID: 23106488
    [Abstract] [Full Text] [Related]

  • 6.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9. Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype.
    Taioli F, Bertolasi L, Ajena D, Ferrarini M, Cabrini I, Crestanello A, Fabrizi GM.
    J Peripher Nerv Syst; 2012 Dec 11; 17(4):414-7. PubMed ID: 23279344
    [Abstract] [Full Text] [Related]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11. 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, Study Group for Hereditary Neuropathy in Japan.
    Brain; 2003 Jan 11; 126(Pt 1):134-51. PubMed ID: 12477701
    [Abstract] [Full Text] [Related]

  • 12. Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A disease.
    Mathis S, Corcia P, Tazir M, Camu W, Magdelaine C, Latour P, Biberon J, Guennoc AM, Richard L, Magy L, Funalot B, Vallat JM.
    Neuromuscul Disord; 2014 Jun 11; 24(6):524-8. PubMed ID: 24792522
    [Abstract] [Full Text] [Related]

  • 13. A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease.
    Li LX, Dong HL, Xiao BG, Wu ZY.
    Chin Med J (Engl); 2017 Aug 05; 130(15):1779-1784. PubMed ID: 28748849
    [Abstract] [Full Text] [Related]

  • 14. Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
    Resko P, Radvansky J, Odnogova Z, Baldovic M, Minarik G, Polakova H, Palffy R, Kadasi L.
    Gen Physiol Biophys; 2011 Dec 05; 30(4):379-88. PubMed ID: 22131320
    [Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. An Elderly Woman with Complaints of Pain and Hearing Loss, Diagnosed with CMT1A with PMP22 Duplication.
    Takegami N, Hamada M, Yamaguchi-Takegami N, Sakuishi K, Toda T.
    Intern Med; 2024 Jan 15; 63(2):315-318. PubMed ID: 37225480
    [Abstract] [Full Text] [Related]

  • 17. Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.
    Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, Snipes GJ, Shooter EM, Patel PI, Lupski JR.
    N Engl J Med; 1993 Jul 08; 329(2):96-101. PubMed ID: 8510709
    [Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19. [Detection of duplications or deletions of the PMP22 gene using real-time quantitative PCR].
    Zhang FF, Tang BS, Shen Y, Zhao GH, Xia K, Zhao YQ, Chen B, Zhang C, Pan Q, Cai F, Liu XM, Luo W, Zhang RX, Guo P.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Oct 08; 22(5):537-40. PubMed ID: 16215943
    [Abstract] [Full Text] [Related]

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

    Page: [Next] [New Search]
    of 6.