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Journal Abstract Search

244 related items for PubMed ID: 15772096

  • 1. GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.
    Pedrola L, Espert A, Wu X, Claramunt R, Shy ME, Palau F.
    Hum Mol Genet; 2005 Apr 15; 14(8):1087-94. PubMed ID: 15772096
    [Abstract] [Full Text] [Related]

  • 2. A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease.
    Kabzińska D, Kochański A, Drac H, Rowińska-Marcińska K, Ryniewicz B, Pedrola L, Palau F, Hausmanowa-Petrusewicz I.
    J Neurol Sci; 2006 Feb 15; 241(1-2):7-11. PubMed ID: 16343542
    [Abstract] [Full Text] [Related]

  • 3. Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.
    Cassereau J, Chevrollier A, Gueguen N, Desquiret V, Verny C, Nicolas G, Dubas F, Amati-Bonneau P, Reynier P, Bonneau D, Procaccio V.
    Exp Neurol; 2011 Jan 15; 227(1):31-41. PubMed ID: 20849849
    [Abstract] [Full Text] [Related]

  • 4. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.
    Baxter RV, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, Hentati F, Ben Hamida M, Bel S, Stenger JE, Gilbert JR, Pericak-Vance MA, Vance JM.
    Nat Genet; 2002 Jan 15; 30(1):21-2. PubMed ID: 11743579
    [Abstract] [Full Text] [Related]

  • 5. Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.
    Sevilla T, Cuesta A, Chumillas MJ, Mayordomo F, Pedrola L, Palau F, Vílchez JJ.
    Brain; 2003 Sep 15; 126(Pt 9):2023-33. PubMed ID: 12821518
    [Abstract] [Full Text] [Related]

  • 6. Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential.
    Noack R, Frede S, Albrecht P, Henke N, Pfeiffer A, Knoll K, Dehmel T, Meyer Zu Hörste G, Stettner M, Kieseier BC, Summer H, Golz S, Kochanski A, Wiedau-Pazos M, Arnold S, Lewerenz J, Methner A.
    Hum Mol Genet; 2012 Jan 01; 21(1):150-62. PubMed ID: 21965300
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  • 7. Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes.
    Marco A, Cuesta A, Pedrola L, Palau F, Marín I.
    Mol Biol Evol; 2004 Jan 01; 21(1):176-87. PubMed ID: 14595091
    [Abstract] [Full Text] [Related]

  • 8. A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family.
    Xin B, Puffenberger E, Nye L, Wiznitzer M, Wang H.
    Clin Genet; 2008 Sep 01; 74(3):274-8. PubMed ID: 18492089
    [Abstract] [Full Text] [Related]

  • 9. Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease.
    Sivera R, Espinós C, Vílchez JJ, Mas F, Martínez-Rubio D, Chumillas MJ, Mayordomo F, Muelas N, Bataller L, Palau F, Sevilla T.
    J Peripher Nerv Syst; 2010 Dec 01; 15(4):334-44. PubMed ID: 21199105
    [Abstract] [Full Text] [Related]

  • 10. Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease).
    Berger P, Niemann A, Suter U.
    Glia; 2006 Sep 01; 54(4):243-57. PubMed ID: 16856148
    [Abstract] [Full Text] [Related]

  • 11. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.
    Cuesta A, Pedrola L, Sevilla T, García-Planells J, Chumillas MJ, Mayordomo F, LeGuern E, Marín I, Vílchez JJ, Palau F.
    Nat Genet; 2002 Jan 01; 30(1):22-5. PubMed ID: 11743580
    [Abstract] [Full Text] [Related]

  • 12. Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene.
    Kabzińska D, Kochański A, Drac H, Ryniewicz B, Rowińska-Marcińska K, Hausmanowa-Petrusewicz I.
    Neuropediatrics; 2005 Jun 01; 36(3):206-9. PubMed ID: 15944907
    [Abstract] [Full Text] [Related]

  • 13. [Molecular genetics of inherited neuropathies].
    Takashima H.
    Rinsho Shinkeigaku; 2006 Jan 01; 46(1):1-18. PubMed ID: 16541790
    [Abstract] [Full Text] [Related]

  • 14. Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations.
    Chung KW, Hyun YS, Lee HJ, Jung HK, Koo H, Yoo JH, Kim SB, Park CI, Kim HN, Choi BO.
    J Peripher Nerv Syst; 2011 Jun 01; 16(2):143-6. PubMed ID: 21692914
    [Abstract] [Full Text] [Related]

  • 15. The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.
    Crimella C, Tonelli A, Airoldi G, Baschirotto C, D'Angelo MG, Bonato S, Losito L, Trabacca A, Bresolin N, Bassi MT.
    J Med Genet; 2010 Oct 01; 47(10):712-6. PubMed ID: 20685671
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  • 18. The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease.
    Niemann A, Huber N, Wagner KM, Somandin C, Horn M, Lebrun-Julien F, Angst B, Pereira JA, Halfter H, Welzl H, Feltri ML, Wrabetz L, Young P, Wessig C, Toyka KV, Suter U.
    Brain; 2014 Mar 01; 137(Pt 3):668-82. PubMed ID: 24480485
    [Abstract] [Full Text] [Related]

  • 19. Clinical, electrophysiological and genetic studies of two families with mutations in the GDAP1 gene.
    Rougeot C, Chabrier S, Camdessanche JP, Prieur F, d'Anjou MC, Latour P.
    Neuropediatrics; 2008 Jun 01; 39(3):184-7. PubMed ID: 18991200
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