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Journal Abstract Search

339 related items for PubMed ID: 17620124

  • 21. 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]

  • 22. A family with X-linked dominant Charcot-Marie-Tooth caused by a connexin32 mutation.
    Verhelst HE, Lofgren A, Van Coster RN.
    Eur J Paediatr Neurol; 2000 Apr; 4(5):235-8. PubMed ID: 11030070
    [Abstract] [Full Text] [Related]

  • 23. A V38A mutation in X-linked Charcot-Marie-Tooth neuropathy with unusual clinical features.
    Karadima G, Panas M, Floroskufi P, Kalfakis N, Vassilopoulos D.
    J Neurol; 2004 Feb; 251(2):222-3. PubMed ID: 14991359
    [No Abstract] [Full Text] [Related]

  • 24. Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.
    Tazir M, Azzedine H, Assami S, Sindou P, Nouioua S, Zemmouri R, Hamadouche T, Chaouch M, Feingold J, Vallat JM, Leguern E, Grid D.
    Brain; 2004 Jan; 127(Pt 1):154-63. PubMed ID: 14607793
    [Abstract] [Full Text] [Related]

  • 25. Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease.
    Wang HL, Chang WT, Yeh TH, Wu T, Chen MS, Wu CY.
    Neurobiol Dis; 2004 Mar; 15(2):361-70. PubMed ID: 15006706
    [Abstract] [Full Text] [Related]

  • 26. Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.
    Rouger H, LeGuern E, Birouk N, Gouider R, Tardieu S, Plassart E, Gugenheim M, Vallat JM, Louboutin JP, Bouche P, Agid Y, Brice A.
    Hum Mutat; 1997 Mar; 10(6):443-52. PubMed ID: 9401007
    [Abstract] [Full Text] [Related]

  • 27. Mutation testing in Charcot-Marie-Tooth neuropathy.
    Nicholson GA.
    Ann N Y Acad Sci; 1999 Sep 14; 883():383-8. PubMed ID: 10586262
    [Abstract] [Full Text] [Related]

  • 28. Connexin32 and X-linked Charcot-Marie-Tooth disease.
    Bone LJ, Deschênes SM, Balice-Gordon RJ, Fischbeck KH, Scherer SS.
    Neurobiol Dis; 1997 Sep 14; 4(3-4):221-30. PubMed ID: 9361298
    [Abstract] [Full Text] [Related]

  • 29. Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population.
    Casasnovas C, Banchs I, Corral J, Martínez-Matos JA, Volpini V.
    Clin Genet; 2006 Dec 14; 70(6):516-23. PubMed ID: 17100997
    [Abstract] [Full Text] [Related]

  • 30. 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 14; 25(6):759-63. PubMed ID: 20382840
    [Abstract] [Full Text] [Related]

  • 31. Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy.
    Ionasescu V, Ionasescu R, Searby C.
    Am J Med Genet; 1996 Jun 14; 63(3):486-91. PubMed ID: 8737658
    [Abstract] [Full Text] [Related]

  • 32. 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 14; 130(Pt 4):1062-75. PubMed ID: 17347251
    [Abstract] [Full Text] [Related]

  • 33. Transient leukoencephalopathy associated with X-linked Charcot-Marie-Tooth disease.
    Rosser T, Muir J, Panigrahy A, Baldwin EE, Boles RG.
    J Child Neurol; 2010 Aug 14; 25(8):1013-6. PubMed ID: 20472869
    [Abstract] [Full Text] [Related]

  • 34. 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 14; 126(Pt 9):2023-33. PubMed ID: 12821518
    [Abstract] [Full Text] [Related]

  • 35. Clinical and electrophysiological studies of a family with probable X-linked dominant Charcot-Marie-Tooth neuropathy and ptosis.
    Wu T, Wang HL, Chu CC, Yu JM, Chen JY, Huang CC.
    Chang Gung Med J; 2004 Jul 14; 27(7):489-500. PubMed ID: 15508871
    [Abstract] [Full Text] [Related]

  • 36. Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.
    Tang B, Liu X, Zhao G, Luo W, Xia K, Pan Q, Cai F, Hu Z, Zhang C, Chen B, Zhang F, Shen L, Zhang R, Jiang H.
    Arch Neurol; 2005 Aug 14; 62(8):1201-7. PubMed ID: 16087758
    [Abstract] [Full Text] [Related]

  • 37. Neurophysiology and molecular genetics of Charcot-Marie-Tooth type 1 neuropathy in Croatian children: follow-up study.
    Barisić N, Mihatov I.
    Croat Med J; 2000 Sep 14; 41(3):306-13. PubMed ID: 10962051
    [Abstract] [Full Text] [Related]

  • 38. Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE.
    Beauvais K, Furby A, Latour P.
    Neuromuscul Disord; 2006 Jan 14; 16(1):14-8. PubMed ID: 16373087
    [Abstract] [Full Text] [Related]

  • 39. SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations.
    Latour P, Gonnaud PM, Ollagnon E, Chan V, Perelman S, Stojkovic T, Stoll C, Vial C, Ziegler F, Vandenberghe A, Maire I.
    J Peripher Nerv Syst; 2006 Jun 14; 11(2):148-55. PubMed ID: 16787513
    [Abstract] [Full Text] [Related]

  • 40.
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