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Journal Abstract Search

315 related items for PubMed ID: 19193385

  • 1. Persistent CNS dysfunction in a boy with CMT1X.
    Siskind C, Feely SM, Bernes S, Shy ME, Garbern JY.
    J Neurol Sci; 2009 Apr 15; 279(1-2):109-13. PubMed ID: 19193385
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  • 2. [Two novel mutations of GJB1 gene associated with typical X-linked Charcot-Marie-Tooth disease].
    Qiao XH, Li YX, Chang XZ, Luan XH, Chen B, Bu DF, Yuan Y.
    Zhonghua Yi Xue Za Zhi; 2009 Dec 22; 89(47):3328-31. PubMed ID: 20193560
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  • 5. Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing.
    Seeman P, Mazanec R, Ctvrtecková M, Smilková D.
    Int J Mol Med; 2001 Oct 22; 8(4):461-8. PubMed ID: 11562788
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  • 6. Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease.
    Braathen GJ, Sand JC, Bukholm G, Russell MB.
    BMC Neurol; 2007 Jul 09; 7():19. PubMed ID: 17620124
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  • 9. CMT1X phenotypes represent loss of GJB1 gene function.
    Shy ME, Siskind C, Swan ER, Krajewski KM, Doherty T, Fuerst DR, Ainsworth PJ, Lewis RA, Scherer SS, Hahn AF.
    Neurology; 2007 Mar 13; 68(11):849-55. PubMed ID: 17353473
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  • 10. A novel Cx32 mutation causes X-linked Charcot-Marie-Tooth disease with brainstem involvement and brain magnetic resonance spectroscopy abnormalities.
    Murru MR, Vannelli A, Marrosu G, Cocco E, Corongiu D, Tranquilli S, Cherchi MV, Mura M, Barberini L, Mallarini G, Marrosu MG.
    Neurol Sci; 2006 Apr 13; 27(1):18-23. PubMed ID: 16688595
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  • 11. Corticospinal tract MRI hyperintensity in X-linked Charcot-Marie-Tooth Disease.
    Kassubek J, Bretschneider V, Sperfeld AD.
    J Clin Neurosci; 2005 Jun 13; 12(5):588-9. PubMed ID: 16051098
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  • 12. Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
    Miltenberger-Miltenyi G, Janecke AR, Wanschitz JV, Timmerman V, Windpassinger C, Auer-Grumbach M, Löscher WN.
    Arch Neurol; 2007 Jul 13; 64(7):966-70. PubMed ID: 17620486
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  • 13. Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation.
    Hanemann CO, Bergmann C, Senderek J, Zerres K, Sperfeld AD.
    Arch Neurol; 2003 Apr 13; 60(4):605-9. PubMed ID: 12707076
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  • 15. X-linked Charcot-Marie-Tooth disease and connexin32.
    Ionasescu VV.
    Cell Biol Int; 1998 Nov 13; 22(11-12):807-13. PubMed ID: 10873293
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  • 16. Coexistent central and peripheral nervous system involvement in a Charcot-Marie-Tooth syndrome X-linked patient.
    Fusco C, Frattini D, Pisani F, Spaggiari F, Ferlini A, Della Giustina E.
    J Child Neurol; 2010 Jun 13; 25(6):759-63. PubMed ID: 20382840
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  • 17. A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset.
    Vazza G, Merlini L, Bertolin C, Zortea M, Mostacciuolo ML.
    Neuromuscul Disord; 2006 Dec 13; 16(12):878-81. PubMed ID: 17052905
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  • 18. Molecular genetics of X-linked Charcot-Marie-Tooth disease.
    Kleopa KA, Scherer SS.
    Neuromolecular Med; 2006 Dec 13; 8(1-2):107-22. PubMed ID: 16775370
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  • 20. X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation.
    Sagnelli A, Piscosquito G, Chiapparini L, Ciano C, Salsano E, Saveri P, Milani M, Taroni F, Pareyson D.
    J Peripher Nerv Syst; 2014 Jun 13; 19(2):183-6. PubMed ID: 24863494
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