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584 related items for PubMed ID: 11799477

  • 1. 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]

  • 2. 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]

  • 3. 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]

  • 4. 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]

  • 5. A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.
    Leal A, Morera B, Del Valle G, Heuss D, Kayser C, Berghoff M, Villegas R, Hernández E, Méndez M, Hennies HC, Neundörfer B, Barrantes R, Reis A, Rautenstrauss B.
    Am J Hum Genet; 2001 Jan; 68(1):269-74. PubMed ID: 11112660
    [Abstract] [Full Text] [Related]

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

  • 7. [Molecular genetics of inherited neuropathies].
    Takashima H.
    Rinsho Shinkeigaku; 2006 Jan; 46(1):1-18. PubMed ID: 16541790
    [Abstract] [Full Text] [Related]

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

  • 9. 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]

  • 10. 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]

  • 11. A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.
    Bouhouche A, Benomar A, Birouk N, Mularoni A, Meggouh F, Tassin J, Grid D, Vandenberghe A, Yahyaoui M, Chkili T, Brice A, LeGuern E.
    Am J Hum Genet; 1999 Sep; 65(3):722-7. PubMed ID: 10441578
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.
    Mendoza-Ferreira N, Karakaya M, Cengiz N, Beijer D, Brigatti KW, Gonzaga-Jauregui C, Fuhrmann N, Hölker I, Thelen MP, Zetzsche S, Rombo R, Puffenberger EG, De Jonghe P, Deconinck T, Zuchner S, Strauss KA, Carson V, Schrank B, Wunderlich G, Baets J, Wirth B.
    Am J Hum Genet; 2020 Oct 01; 107(4):763-777. PubMed ID: 32937143
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 14(2):147-57. PubMed ID: 14733962
    [Abstract] [Full Text] [Related]

  • 15. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.
    Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, Atherton J, Vidaillet HJ, Spudich S, De Girolami U, Seidman JG, Seidman C, Muntoni F, Müehle G, Johnson W, McDonough B.
    N Engl J Med; 1999 Dec 02; 341(23):1715-24. PubMed ID: 10580070
    [Abstract] [Full Text] [Related]

  • 16. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
    Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F.
    Ann Neurol; 2000 Aug 02; 48(2):170-80. PubMed ID: 10939567
    [Abstract] [Full Text] [Related]

  • 17. Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.
    Berciano J, García A, Gallardo E, Peeters K, Pelayo-Negro AL, Álvarez-Paradelo S, Gazulla J, Martínez-Tames M, Infante J, Jordanova A.
    J Neurol; 2017 Aug 02; 264(8):1655-1677. PubMed ID: 28364294
    [Abstract] [Full Text] [Related]

  • 18. Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.
    Cipriani S, Guerrero-Valero M, Tozza S, Zhao E, Vollmer V, Beijer D, Danzi M, Rivellini C, Lazarevic D, Pipitone GB, Grosz BR, Lamperti C, Marzoli SB, Carrera P, Devoto M, Pisciotta C, Pareyson D, Kennerson M, Previtali SC, Zuchner S, Scherer SS, Manganelli F, Bähler M, Bolino A.
    Eur J Neurol; 2023 Feb 02; 30(2):511-526. PubMed ID: 36260368
    [Abstract] [Full Text] [Related]

  • 19. Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.
    Brown CA, Lanning RW, McKinney KQ, Salvino AR, Cherniske E, Crowe CA, Darras BT, Gominak S, Greenberg CR, Grosmann C, Heydemann P, Mendell JR, Pober BR, Sasaki T, Shapiro F, Simpson DA, Suchowersky O, Spence JE.
    Am J Med Genet; 2001 Sep 01; 102(4):359-67. PubMed ID: 11503164
    [Abstract] [Full Text] [Related]

  • 20. Mutations in the LMNA gene encoding lamin A/C.
    Genschel J, Schmidt HH.
    Hum Mutat; 2000 Dec 01; 16(6):451-9. PubMed ID: 11102973
    [Abstract] [Full Text] [Related]

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