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

180 related items for PubMed ID: 28847448

  • 1. 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; 27(10):959-961. PubMed ID: 28847448
    [Abstract] [Full Text] [Related]

  • 2. 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; 23(8):652-5. PubMed ID: 23770104
    [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; 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; 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. 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]

  • 7. 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]

  • 8. 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 15; 17(2):141-6. PubMed ID: 22734899
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 79(6):460-9. PubMed ID: 26400421
    [Abstract] [Full Text] [Related]

  • 10. A novel homozygous nonsense mutation in NEFL causes autosomal recessive Charcot-Marie-Tooth disease.
    Fu J, Yuan Y.
    Neuromuscul Disord; 2018 Jan 15; 28(1):44-47. PubMed ID: 29191368
    [Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12. Mild phenotype of Charcot-Marie-Tooth disease type 4B1.
    Murakami T, Kutoku Y, Nishimura H, Hayashi M, Abe A, Hayasaka K, Sunada Y.
    J Neurol Sci; 2013 Nov 15; 334(1-2):176-9. PubMed ID: 23962696
    [Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

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

  • 16. 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]

  • 17. Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.
    Nicholson G, Lenk GM, Reddel SW, Grant AE, Towne CF, Ferguson CJ, Simpson E, Scheuerle A, Yasick M, Hoffman S, Blouin R, Brandt C, Coppola G, Biesecker LG, Batish SD, Meisler MH.
    Brain; 2011 Jul 15; 134(Pt 7):1959-71. PubMed ID: 21705420
    [Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19. 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 15; 81(1):1-16. PubMed ID: 17564959
    [Abstract] [Full Text] [Related]

  • 20. A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathy.
    Miura S, Morikawa T, Fujioka R, Noda K, Kosaka K, Taniwaki T, Shibata H.
    Eur J Med Genet; 2017 Sep 15; 60(9):474-478. PubMed ID: 28642160
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 9.