These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

126 related items for PubMed ID: 19332693

  • 1. 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]

  • 2. 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 31; 77(4):336-43. PubMed ID: 23550889
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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 31; 81(1):1-16. PubMed ID: 17564959
    [Abstract] [Full Text] [Related]

  • 5. 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 31; 11(1):221-232. PubMed ID: 38108359
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 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 17; 79(6):460-9. PubMed ID: 26400421
    [Abstract] [Full Text] [Related]

  • 8. 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 17; 27(10):959-961. PubMed ID: 28847448
    [Abstract] [Full Text] [Related]

  • 9. 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 17; 23(8):652-5. PubMed ID: 23770104
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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 02; 135(Pt 12):3567-83. PubMed ID: 23171661
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. 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]

  • 14. 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]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. 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 15; 64(7):966-70. PubMed ID: 17620486
    [Abstract] [Full Text] [Related]

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

  • 18. Pathology of the peripheral neuropathy Charcot-Marie-Tooth disease type 4H in Holstein Friesian cattle with a splice site mutation in FGD4.
    Dittmer KE, Neeley C, Perrott MR, Reynolds E, Garrick DJ, Littlejohn MD.
    Vet Pathol; 2022 May 15; 59(3):442-450. PubMed ID: 35300540
    [Abstract] [Full Text] [Related]

  • 19. Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: a 20-year study.
    Bird TD, Kraft GH, Lipe HP, Kenney KL, Sumi SM.
    Ann Neurol; 1997 Apr 15; 41(4):463-9. PubMed ID: 9124803
    [Abstract] [Full Text] [Related]

  • 20. A novel mutation in the FGD4 gene causing Charcot-Marie-Tooth disease.
    Zis P, Reilly MM, Rao DG, Tomaselli P, Rossor AM, Hadjivassiliou M.
    J Peripher Nerv Syst; 2017 Sep 15; 22(3):224-225. PubMed ID: 28543957
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 7.