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    Results: 1 to 20 of 137

    1.

    Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.

    Claramunt R, Pedrola L, Sevilla T, López de Munain A, Berciano J, Cuesta A, Sánchez-Navarro B, Millán JM, Saifi GM, Lupski JR, Vílchez JJ, Espinós C, Palau F.

    J Med Genet. 2005 Apr;42(4):358-65. No abstract available. PMID: 15805163 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family.

    Verny C, Ravisé N, Leutenegger AL, Pouplard F, Dubourg O, Tardieu S, Dubas F, Brice A, Genin E, LeGuern E.

    Neurology. 2004 Oct 26;63(8):1527-9.PMID: 15505184 [PubMed - indexed for MEDLINE]Related articles

    3.

    A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect.

    Di Maria E, Gulli R, Balestra P, Cassandrini D, Pigullo S, Doria-Lamba L, Bado M, Schenone A, Ajmar F, Mandich P, Bellone E.

    J Neurol Neurosurg Psychiatry. 2004 Oct;75(10):1495-8.PMID: 15377708 [PubMed - indexed for MEDLINE]Related articlesFree article

    4.

    A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.

    Muglia M, Vazza G, Patitucci A, Milani M, Pareyson D, Taroni F, Quattrone A, Mostacciuolo ML.

    J Neurol Neurosurg Psychiatry. 2007 Nov;78(11):1286-7. No abstract available. PMID: 17940179 [PubMed - indexed for MEDLINE]Related articles

    5.

    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;62(8):1201-7.PMID: 16087758 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations.

    Zhu D, Kennerson ML, Walizada G, Züchner S, Vance JM, Nicholson GA.

    Neurology. 2005 Aug 9;65(3):496-7. No abstract available. PMID: 16087932 [PubMed - indexed for MEDLINE]Related articles

    7.

    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;30(1):22-5. Epub 2001 Dec 17.PMID: 11743580 [PubMed - indexed for MEDLINE]Related articles

    8.

    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. Epub 2001 Dec 17.PMID: 11743579 [PubMed - indexed for MEDLINE]Related articles

    9.

    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;53(3):400-5.PMID: 12601710 [PubMed - indexed for MEDLINE]Related articles

    10.

    Phenotype of Charcot-Marie-Tooth disease Type 2.

    Bienfait HM, Baas F, Koelman JH, de Haan RJ, van Engelen BG, Gabreëls-Festen AA, Ongerboer de Visser BW, Meggouh F, Weterman MA, De Jonghe P, Timmerman V, de Visser M.

    Neurology. 2007 May 15;68(20):1658-67.PMID: 17502546 [PubMed - indexed for MEDLINE]Related articles

    11.

    The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.

    Claramunt R, Sevilla T, Lupo V, Cuesta A, Millán JM, Vílchez JJ, Palau F, Espinós C.

    Clin Genet. 2007 Apr;71(4):343-9.PMID: 17470135 [PubMed - indexed for MEDLINE]Related articles

    12.

    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. Epub 2007 Mar 8.PMID: 17347251 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    Axonal Charcot-Marie-Tooth disease: the fog is only slowly lifting.

    Pareyson D.

    Neurology. 2007 May 15;68(20):1649-50. No abstract available. PMID: 17502544 [PubMed - indexed for MEDLINE]Related articles

    14.

    A new gene for the Charcot-Marie-Tooth disorder.

    Ben-Asher E, Lancet D.

    Isr Med Assoc J. 2004 Jun;6(6):376-7. No abstract available. PMID: 15214472 [PubMed - indexed for MEDLINE]Related articlesFree article

    15.

    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;64(7):966-70.PMID: 17620486 [PubMed - indexed for MEDLINE]Related articlesFree article

    16.

    Diagnosis, natural history, and management of Charcot-Marie-Tooth disease.

    Pareyson D, Marchesi C.

    Lancet Neurol. 2009 Jul;8(7):654-67. Review.PMID: 19539237 [PubMed - indexed for MEDLINE]Related articles

    17.

    Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3.

    Benko WS, Hruska KS, Nagan N, Goker-Alpan O, Hart PS, Schiffmann R, Sidransky E.

    Neurology. 2008 Mar 18;70(12):976-8. No abstract available. PMID: 18347322 [PubMed - indexed for MEDLINE]Related articles

    18.

    Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.

    Fabrizi GM, Cavallaro T, Angiari C, Cabrini I, Taioli F, Malerba G, Bertolasi L, Rizzuto N.

    Brain. 2007 Feb;130(Pt 2):394-403. Epub 2006 Oct 18.PMID: 17052987 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    Allelic variants in the 5' non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX).

    Bergmann C, Zerres K, Rudnik-Schöneborn S, Eggermann T, Schröder JM, Senderek J.

    J Med Genet. 2002 Sep;39(9):e58. No abstract available. PMID: 12205128 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness.

    Joo IS, Ki CS, Joo SY, Huh K, Kim JW.

    Neuromuscul Disord. 2004 May;14(5):325-8.PMID: 15099592 [PubMed - indexed for MEDLINE]Related articles

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