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

160 related items for PubMed ID: 34148957

  • 1. 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]

  • 2. 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 Dec 15; 11(1):221-232. PubMed ID: 38108359
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 5. 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 15; 77(4):336-43. PubMed ID: 23550889
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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]

  • 8.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Delague V.
    ; 1993 Oct 15. PubMed ID: 23926620
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11. 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]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Bird TD.
    ; 1993 Mar 31. PubMed ID: 20301641
    [Abstract] [Full Text] [Related]

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

  • 15. 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]

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 17. Effective cauda equina decompression in two siblings with Charcot-Marie-Tooth disease type 1B.
    van Doormaal TP, van Ruissen F, Miller KJ, Hoogendijk JE.
    Neuromuscul Disord; 2016 Dec 02; 26(12):837-840. PubMed ID: 27614573
    [Abstract] [Full Text] [Related]

  • 18. ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
    Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A.
    Brain; 2016 Jan 02; 139(Pt 1):73-85. PubMed ID: 26556829
    [Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 8.