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Journal Abstract Search

278 related items for PubMed ID: 21692914

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  • 2. 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
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  • 9. [Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charcot-Marie-Tooth disease].
    Zhang RX, Tang BS, Zi XH, Luo W, Xia K, Pan Q, Long ZG, Hu ZM, Li XB.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Jun; 21(3):207-10. PubMed ID: 15192818
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  • 10. 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; 39(3):184-7. PubMed ID: 18991200
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  • 11. 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; 17(6):482-9. PubMed ID: 17433678
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  • 12. 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
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  • 13. 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; 30(1):21-2. PubMed ID: 11743579
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  • 15. 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
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  • 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
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  • 19. [Molecular genetics of inherited neuropathies].
    Takashima H.
    Rinsho Shinkeigaku; 2006 Jan 15; 46(1):1-18. PubMed ID: 16541790
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  • 20. GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course.
    Pezzini I, Geroldi A, Capponi S, Gulli R, Schenone A, Grandis M, Doria-Lamba L, La Piana C, Cremonte M, Pisciotta C, Nolano M, Manganelli F, Santoro L, Mandich P, Bellone E.
    Neuromuscul Disord; 2016 Jan 15; 26(1):26-32. PubMed ID: 26525999
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