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Journal Abstract Search

710 related items for PubMed ID: 18492089

  • 21. Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.
    Azzedine H, Ravisé N, Verny C, Gabrëels-Festen A, Lammens M, Grid D, Vallat JM, Durosier G, Senderek J, Nouioua S, Hamadouche T, Bouhouche A, Guilbot A, Stendel C, Ruberg M, Brice A, Birouk N, Dubourg O, Tazir M, LeGuern E.
    Neurology; 2006 Aug 22; 67(4):602-6. PubMed ID: 16924012
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  • 22. 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 22; 30(1):22-5. PubMed ID: 11743580
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  • 23. The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.
    Crimella C, Tonelli A, Airoldi G, Baschirotto C, D'Angelo MG, Bonato S, Losito L, Trabacca A, Bresolin N, Bassi MT.
    J Med Genet; 2010 Oct 22; 47(10):712-6. PubMed ID: 20685671
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  • 25. 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 22; 64(7):966-70. PubMed ID: 17620486
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  • 26. Clinical, electrophysiological and genetic studies of two families with mutations in the GDAP1 gene.
    Rougeot C, Chabrier S, Camdessanche JP, Prieur F, d'Anjou MC, Latour P.
    Neuropediatrics; 2008 Jun 22; 39(3):184-7. PubMed ID: 18991200
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  • 27. Clinicopathological and genetic study of early-onset demyelinating neuropathy.
    Parman Y, Battaloglu E, Baris I, Bilir B, Poyraz M, Bissar-Tadmouri N, Williams A, Ammar N, Nelis E, Timmerman V, De Jonghe P, Najafov A, Deymeer F, Serdaroglu P, Brophy PJ, Said G.
    Brain; 2004 Nov 22; 127(Pt 11):2540-50. PubMed ID: 15469949
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  • 28. A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.
    Boubaker C, Hsairi-Guidara I, Castro C, Ayadi I, Boyer A, Kerkeni E, Courageot J, Abid I, Bernard R, Bonello-Palot N, Kamoun F, Cheikh HB, Lévy N, Triki C, Delague V.
    Ann Hum Genet; 2013 Jul 22; 77(4):336-43. PubMed ID: 23550889
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  • 29. 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 22; 53(3):400-5. PubMed ID: 12601710
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  • 30. A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations.
    Vital A, Latour P, Sole G, Ferrer X, Rouanet M, Tison F, Vital C, Goizet C.
    Neuromuscul Disord; 2012 Aug 22; 22(8):735-41. PubMed ID: 22546700
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  • 33. Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype.
    Abe A, Numakura C, Saito K, Koide H, Oka N, Honma A, Kishikawa Y, Hayasaka K.
    J Hum Genet; 2009 Feb 22; 54(2):94-7. PubMed ID: 19158810
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  • 34. Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan.
    Hayashi M, Abe A, Murakami T, Yamao S, Arai H, Hattori H, Iai M, Watanabe K, Oka N, Chida K, Kishikawa Y, Hayasaka K.
    J Hum Genet; 2013 May 22; 58(5):273-8. PubMed ID: 23466821
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  • 35. A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation.
    Kabzińska D, Kotruchow K, Cegielska J, Hausmanowa-Petrusewicz I, Kochański A.
    Acta Biochim Pol; 2014 May 22; 61(4):739-44. PubMed ID: 25337607
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  • 36. GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease.
    Figueiredo FB, Silva WA, Giuliatti S, Tomaselli PJ, Lourenço CM, Gouvêa SP, Covaleski APPM, Hallak JE, Marques W.
    Neuromuscul Disord; 2021 Jun 22; 31(6):505-511. PubMed ID: 33903021
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  • 37. The homozygous ganglioside-induced differentiation-associated protein 1 mutation c.373C > T causes a very early-onset neuropathy: case report and literature review.
    Fusco C, Ucchino V, Barbon G, Bonini E, Mostacciuolo ML, Frattini D, Pisani F, Giustina ED.
    J Child Neurol; 2011 Jan 22; 26(1):49-57. PubMed ID: 21212451
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  • 38. 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 22; 127(Pt 1):154-63. PubMed ID: 14607793
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  • 39. Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.
    Senderek J, Bergmann C, Ramaekers VT, Nelis E, Bernert G, Makowski A, Züchner S, De Jonghe P, Rudnik-Schöneborn S, Zerres K, Schröder JM.
    Brain; 2003 Mar 22; 126(Pt 3):642-9. PubMed ID: 12566285
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  • 40. Novel GDAP1 Mutation in a Vietnamese Family with Charcot-Marie-Tooth Disease.
    Mai PT, Le DT, Nguyen TT, Le Gia HL, Nguyen Le TH, Le M, Do DM.
    Biomed Res Int; 2019 Mar 22; 2019():7132494. PubMed ID: 31179332
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