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Journal Abstract Search

136 related items for PubMed ID: 19221294

  • 1. A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H.
    Houlden H, Hammans S, Katifi H, Reilly MM.
    Neurology; 2009 Feb 17; 72(7):617-20. PubMed ID: 19221294
    [Abstract] [Full Text] [Related]

  • 2. 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 17; 81(1):1-16. PubMed ID: 17564959
    [Abstract] [Full Text] [Related]

  • 3. 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 17; 77(4):336-43. PubMed ID: 23550889
    [Abstract] [Full Text] [Related]

  • 4. 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 Jul 17; 11(1):221-232. PubMed ID: 38108359
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H).
    Baudot C, Esteve C, Castro C, Poitelon Y, Mas C, Hamadouche T, El-Rajab M, Lévy N, Megarbané A, Delague V.
    J Peripher Nerv Syst; 2012 Jun 31; 17(2):141-6. PubMed ID: 22734899
    [Abstract] [Full Text] [Related]

  • 7. Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families.
    Hyun YS, Lee J, Kim HJ, Hong YB, Koo H, Smith AS, Kim DH, Choi BO, Chung KW.
    Ann Hum Genet; 2015 Nov 31; 79(6):460-9. PubMed ID: 26400421
    [Abstract] [Full Text] [Related]

  • 8. Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H.
    El-Bazzal L, Ghata A, Estève C, Gadacha J, Quintana P, Castro C, Roeckel-Trévisiol N, Lembo F, Lenfant N, Mégarbané A, Borg JP, Lévy N, Bartoli M, Poitelon Y, Roubertoux PL, Delague V, Bernard-Marissal N.
    Brain; 2023 May 02; 146(5):1844-1858. PubMed ID: 36314052
    [Abstract] [Full Text] [Related]

  • 9. A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4.
    Argente-Escrig H, Sánchez-Monteagudo A, Frasquet M, Millet-Sancho E, Martínez-Rubio MD, Pitarch I, Tomás M, Espinós C, Lupo V, Sevilla T.
    J Neurol Sci; 2019 Jul 15; 402():156-161. PubMed ID: 31152969
    [Abstract] [Full Text] [Related]

  • 10. Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells.
    Horn M, Baumann R, Pereira JA, Sidiropoulos PN, Somandin C, Welzl H, Stendel C, Lühmann T, Wessig C, Toyka KV, Relvas JB, Senderek J, Suter U.
    Brain; 2012 Dec 15; 135(Pt 12):3567-83. PubMed ID: 23171661
    [Abstract] [Full Text] [Related]

  • 11. Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina Thickening.
    Aoki S, Nagashima K, Shibata M, Kasahara H, Fujita Y, Hashiguchi A, Takashima H, Ikeda Y.
    Intern Med; 2021 Dec 15; 60(24):3975-3981. PubMed ID: 34148957
    [Abstract] [Full Text] [Related]

  • 12. Genetic epidemiology of Charcot-Marie-Tooth disease.
    Braathen GJ.
    Acta Neurol Scand Suppl; 2012 Dec 15; (193):iv-22. PubMed ID: 23106488
    [Abstract] [Full Text] [Related]

  • 13. A novel mutation in FGD4 causes Charcot-Marie-Tooth disease type 4H with cranial nerve involvement.
    Kondo D, Shinoda K, Yamashita KI, Yamasaki R, Hashiguchi A, Takashima H, Kira JI.
    Neuromuscul Disord; 2017 Oct 15; 27(10):959-961. PubMed ID: 28847448
    [Abstract] [Full Text] [Related]

  • 14. The first Japanese case of Charcot-Marie-Tooth disease type 4H with a novel FGD4 c.837-1G>A mutation.
    Arai H, Hayashi M, Hayasaka K, Kanda T, Tanabe Y.
    Neuromuscul Disord; 2013 Aug 15; 23(8):652-5. PubMed ID: 23770104
    [Abstract] [Full Text] [Related]

  • 15. 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 15; 81(1):158-64. PubMed ID: 17564972
    [Abstract] [Full Text] [Related]

  • 16. WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon.
    Masingue M, Perrot J, Carlier RY, Piguet-Lacroix G, Latour P, Stojkovic T.
    Neurogenetics; 2018 May 15; 19(2):67-76. PubMed ID: 29396836
    [Abstract] [Full Text] [Related]

  • 17. [Molecular genetics of inherited neuropathies].
    Takashima H.
    Rinsho Shinkeigaku; 2006 Jan 15; 46(1):1-18. PubMed ID: 16541790
    [Abstract] [Full Text] [Related]

  • 18. Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review.
    Yalcouyé A, Esoh K, Guida L, Wonkam A.
    J Peripher Nerv Syst; 2022 Jun 15; 27(2):100-112. PubMed ID: 35383421
    [Abstract] [Full Text] [Related]

  • 19. A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.
    Guilbot A, Williams A, Ravisé N, Verny C, Brice A, Sherman DL, Brophy PJ, LeGuern E, Delague V, Bareil C, Mégarbané A, Claustres M.
    Hum Mol Genet; 2001 Feb 15; 10(4):415-21. PubMed ID: 11157804
    [Abstract] [Full Text] [Related]

  • 20. Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.
    Gabreëls-Festen A, van Beersum S, Eshuis L, LeGuern E, Gabreëls F, van Engelen B, Mariman E.
    J Neurol Neurosurg Psychiatry; 1999 May 15; 66(5):569-74. PubMed ID: 10209165
    [Abstract] [Full Text] [Related]

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