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Journal Abstract Search

306 related items for PubMed ID: 23171661

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  • 3. Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.
    Stendel C, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, Kirschner J, Korinthenberg R, Ketelsen UP, Battaloglu E, Parman Y, Nicholson G, Ouvrier R, Seeger J, De Jonghe P, Weis J, Krüttgen A, Rudnik-Schöneborn S, Bergmann C, Suter U, Zerres K, Timmerman V, Relvas JB, Senderek J.
    Am J Hum Genet; 2007 Jul; 81(1):158-64. PubMed ID: 17564972
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  • 4. MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B.
    Saporta MA, Shy BR, Patzko A, Bai Y, Pennuto M, Ferri C, Tinelli E, Saveri P, Kirschner D, Crowther M, Southwood C, Wu X, Gow A, Feltri ML, Wrabetz L, Shy ME.
    Brain; 2012 Jul; 135(Pt 7):2032-47. PubMed ID: 22689911
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  • 5. Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.
    Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D, Mégarbané A, Haase G, Lévy N.
    Am J Hum Genet; 2007 Jul; 81(1):1-16. PubMed ID: 17564959
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  • 7. INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
    Boyer O, Nevo F, Plaisier E, Funalot B, Gribouval O, Benoit G, Huynh Cong E, Arrondel C, Tête MJ, Montjean R, Richard L, Karras A, Pouteil-Noble C, Balafrej L, Bonnardeaux A, Canaud G, Charasse C, Dantal J, Deschenes G, Deteix P, Dubourg O, Petiot P, Pouthier D, Leguern E, Guiochon-Mantel A, Broutin I, Gubler MC, Saunier S, Ronco P, Vallat JM, Alonso MA, Antignac C, Mollet G.
    N Engl J Med; 2011 Dec 22; 365(25):2377-88. PubMed ID: 22187985
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  • 9. Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H.
    Fabrizi GM, Taioli F, Cavallaro T, Ferrari S, Bertolasi L, Casarotto M, Rizzuto N, Deconinck T, Timmerman V, De Jonghe P.
    Neurology; 2009 Mar 31; 72(13):1160-4. PubMed ID: 19332693
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  • 10. A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient.
    Nishadham V, Santhoshkumar R, Nashi S, Vengalil S, Bardhan M, Polavarapu K, Sanka SB, Anjanappa RM, Kulanthaivelu K, Saini J, Chickabasaviah YT, Nalini A.
    J Neuromuscul Dis; 2024 Mar 31; 11(1):221-232. PubMed ID: 38108359
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  • 11. Dynamin 2 mutations in Charcot-Marie-Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination.
    Sidiropoulos PN, Miehe M, Bock T, Tinelli E, Oertli CI, Kuner R, Meijer D, Wollscheid B, Niemann A, Suter U.
    Brain; 2012 May 31; 135(Pt 5):1395-411. PubMed ID: 22451505
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  • 14. Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination.
    Hu B, McCollum M, Ravi V, Arpag S, Moiseev D, Castoro R, Mobley B, Burnette B, Siskind C, Day J, Yawn R, Feely S, Li Y, Yan Q, Shy M, Li J.
    Ann Neurol; 2018 Apr 31; 83(4):756-770. PubMed ID: 29518270
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  • 16. The atypical Guanine-nucleotide exchange factor, dock7, negatively regulates schwann cell differentiation and myelination.
    Yamauchi J, Miyamoto Y, Hamasaki H, Sanbe A, Kusakawa S, Nakamura A, Tsumura H, Maeda M, Nemoto N, Kawahara K, Torii T, Tanoue A.
    J Neurosci; 2011 Aug 31; 31(35):12579-92. PubMed ID: 21880919
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  • 18. Ablation of Perk in Schwann Cells Improves Myelination in the S63del Charcot-Marie-Tooth 1B Mouse.
    Sidoli M, Musner N, Silvestri N, Ungaro D, D'Antonio M, Cavener DR, Feltri ML, Wrabetz L.
    J Neurosci; 2016 Nov 02; 36(44):11350-11361. PubMed ID: 27807175
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  • 20. Regulation of myelin-specific gene expression. Relevance to CMT1.
    Kamholz J, Awatramani R, Menichella D, Jiang H, Xu W, Shy M.
    Ann N Y Acad Sci; 1999 Sep 14; 883():91-108. PubMed ID: 10586235
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