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612 related items for PubMed ID: 12467734

  • 1. The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.
    Chaouch M, Allal Y, De Sandre-Giovannoli A, Vallat JM, Amer-el-Khedoud A, Kassouri N, Chaouch A, Sindou P, Hammadouche T, Tazir M, Lévy N, Grid D.
    Neuromuscul Disord; 2003 Jan; 13(1):60-7. PubMed ID: 12467734
    [Abstract] [Full Text] [Related]

  • 2. Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
    De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Lévy N.
    Am J Hum Genet; 2002 Mar; 70(3):726-36. PubMed ID: 11799477
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 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. ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
    Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A.
    Brain; 2016 Jan; 139(Pt 1):73-85. PubMed ID: 26556829
    [Abstract] [Full Text] [Related]

  • 6. Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa.
    Hamadouche T, Poitelon Y, Genin E, Chaouch M, Tazir M, Kassouri N, Nouioua S, Chaouch A, Boccaccio I, Benhassine T, De Sandre-Giovannoli A, Grid D, Lévy N, Delague V.
    Ann Hum Genet; 2008 Sep; 72(Pt 5):590-7. PubMed ID: 18549403
    [Abstract] [Full Text] [Related]

  • 7. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
    Sevilla T, Lupo V, Martínez-Rubio D, Sancho P, Sivera R, Chumillas MJ, García-Romero M, Pascual-Pascual SI, Muelas N, Dopazo J, Vílchez JJ, Palau F, Espinós C.
    Brain; 2016 Jan; 139(Pt 1):62-72. PubMed ID: 26497905
    [Abstract] [Full Text] [Related]

  • 8. Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.
    Ammar N, Nelis E, Merlini L, Barisić N, Amouri R, Ceuterick C, Martin JJ, Timmerman V, Hentati F, De Jonghe P.
    Neuromuscul Disord; 2003 Nov; 13(9):720-8. PubMed ID: 14561495
    [Abstract] [Full Text] [Related]

  • 9. Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.
    Bernard R, De Sandre-Giovannoli A, Delague V, Lévy N.
    Neuromolecular Med; 2006 Nov; 8(1-2):87-106. PubMed ID: 16775369
    [Abstract] [Full Text] [Related]

  • 10. Genetic epidemiology of Charcot-Marie-Tooth disease.
    Braathen GJ.
    Acta Neurol Scand Suppl; 2012 Nov; (193):iv-22. PubMed ID: 23106488
    [Abstract] [Full Text] [Related]

  • 11. Lamin A/C truncation in dilated cardiomyopathy with conduction disease.
    MacLeod HM, Culley MR, Huber JM, McNally EM.
    BMC Med Genet; 2003 Jul 10; 4():4. PubMed ID: 12854972
    [Abstract] [Full Text] [Related]

  • 12. Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2.
    Wagner JD, Huang L, Tetreault M, Majewski J, Boycott KM, Bulman DE, Care4Rare Canada Consortium, Dyment DA, McMillan HJ.
    Neuromuscul Disord; 2015 Oct 10; 25(10):794-9. PubMed ID: 26298607
    [Abstract] [Full Text] [Related]

  • 13. A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease.
    Kessali M, Zemmouri R, Guilbot A, Maisonobe T, Brice A, LeGuern E, Grid D.
    Neurology; 1997 Apr 10; 48(4):867-73. PubMed ID: 9109869
    [Abstract] [Full Text] [Related]

  • 14. 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 10; 62(8):1201-7. PubMed ID: 16087758
    [Abstract] [Full Text] [Related]

  • 15. Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family.
    Martin AM, Maradei SJ, Velasco HM.
    Colomb Med (Cali); 2015 Dec 30; 46(4):194-8. PubMed ID: 26848201
    [Abstract] [Full Text] [Related]

  • 16. The laminopathies: a clinical review.
    Rankin J, Ellard S.
    Clin Genet; 2006 Oct 30; 70(4):261-74. PubMed ID: 16965317
    [Abstract] [Full Text] [Related]

  • 17. 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 30; 60(4):598-604. PubMed ID: 12707075
    [Abstract] [Full Text] [Related]

  • 18. LMNA-Mediated Arrhythmogenic Right Ventricular Cardiomyopathy and Charcot-Marie-Tooth Type 2B1: A Patient-Discovered Unifying Diagnosis.
    Liang JJ, Grogan M, Ackerman MJ, Goodsell K.
    J Cardiovasc Electrophysiol; 2016 Jul 30; 27(7):868-71. PubMed ID: 27405450
    [Abstract] [Full Text] [Related]

  • 19. The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.
    Züchner S, Vorgerd M, Sindern E, Schröder JM.
    Neuromuscul Disord; 2004 Feb 30; 14(2):147-57. PubMed ID: 14733962
    [Abstract] [Full Text] [Related]

  • 20. Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3.
    Barhoumi C, Amouri R, Ben Hamida C, Ben Hamida M, Machghoul S, Gueddiche M, Hentati F.
    Neuromuscul Disord; 2001 Jan 30; 11(1):27-34. PubMed ID: 11166163
    [Abstract] [Full Text] [Related]

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