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Journal Abstract Search

426 related items for PubMed ID: 21199105

  • 1. 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; 15(4):334-44. PubMed ID: 21199105
    [Abstract] [Full Text] [Related]

  • 2. 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; 126(Pt 9):2023-33. PubMed ID: 12821518
    [Abstract] [Full Text] [Related]

  • 3. A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations.
    Vital A, Latour P, Sole G, Ferrer X, Rouanet M, Tison F, Vital C, Goizet C.
    Neuromuscul Disord; 2012 Aug; 22(8):735-41. PubMed ID: 22546700
    [Abstract] [Full Text] [Related]

  • 4. Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.
    Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E.
    Brain; 2007 Apr; 130(Pt 4):1062-75. PubMed ID: 17347251
    [Abstract] [Full Text] [Related]

  • 5. 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; 47(10):712-6. PubMed ID: 20685671
    [Abstract] [Full Text] [Related]

  • 6. Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene.
    Birouk N, Azzedine H, Dubourg O, Muriel MP, Benomar A, Hamadouche T, Maisonobe T, Ouazzani R, Brice A, Yahyaoui M, Chkili T, Le Guern E.
    Arch Neurol; 2003 Apr; 60(4):598-604. PubMed ID: 12707075
    [Abstract] [Full Text] [Related]

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

  • 8. 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; 227(1):31-41. PubMed ID: 20849849
    [Abstract] [Full Text] [Related]

  • 9. Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene.
    Azzedine H, Ruberg M, Ente D, Gilardeau C, Périé S, Wechsler B, Brice A, LeGuern E, Dubourg O.
    Neuromuscul Disord; 2003 May; 13(4):341-6. PubMed ID: 12868504
    [Abstract] [Full Text] [Related]

  • 10. Similar clinical, pathological, and genetic features in Chinese patients with autosomal recessive and dominant Charcot-Marie-Tooth disease type 2K.
    Fu J, Dai S, Lu Y, Wu R, Wang Z, Yuan Y, Lv H.
    Neuromuscul Disord; 2017 Aug; 27(8):760-765. PubMed ID: 28495047
    [Abstract] [Full Text] [Related]

  • 11. 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; 36(3):206-9. PubMed ID: 15944907
    [Abstract] [Full Text] [Related]

  • 12. 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; 16(2):143-6. PubMed ID: 21692914
    [Abstract] [Full Text] [Related]

  • 13. Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy.
    Sevilla T, Jaijo T, Nauffal D, Collado D, Chumillas MJ, Vilchez JJ, Muelas N, Bataller L, Domenech R, Espinós C, Palau F.
    Brain; 2008 Nov; 131(Pt 11):3051-61. PubMed ID: 18812441
    [Abstract] [Full Text] [Related]

  • 14. 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; 74(3):274-8. PubMed ID: 18492089
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. CMT4A: identification of a Hispanic GDAP1 founder mutation.
    Boerkoel CF, Takashima H, Nakagawa M, Izumo S, Armstrong D, Butler I, Mancias P, Papasozomenos SC, Stern LZ, Lupski JR.
    Ann Neurol; 2003 Mar 15; 53(3):400-5. PubMed ID: 12601710
    [Abstract] [Full Text] [Related]

  • 17. A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation.
    Kabzińska D, Kotruchow K, Cegielska J, Hausmanowa-Petrusewicz I, Kochański A.
    Acta Biochim Pol; 2014 Mar 15; 61(4):739-44. PubMed ID: 25337607
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 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 15; 39(3):184-7. PubMed ID: 18991200
    [Abstract] [Full Text] [Related]

  • 20. GDAP1 mutations in Czech families with early-onset CMT.
    Baránková L, Vyhnálková E, Züchner S, Mazanec R, Sakmaryová I, Vondrácek P, Merlini L, Bojar M, Nelis E, De Jonghe P, Seeman P.
    Neuromuscul Disord; 2007 Jun 15; 17(6):482-9. PubMed ID: 17433678
    [Abstract] [Full Text] [Related]

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