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

130 related items for PubMed ID: 22734899

  • 1. 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; 17(2):141-6. PubMed ID: 22734899
    [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; 77(4):336-43. PubMed ID: 23550889
    [Abstract] [Full Text] [Related]

  • 3.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 4. 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; 79(6):460-9. PubMed ID: 26400421
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6.
    ; . PubMed ID:
    [No 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. 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]

  • 9. 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]

  • 10. Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan.
    Hayashi M, Abe A, Murakami T, Yamao S, Arai H, Hattori H, Iai M, Watanabe K, Oka N, Chida K, Kishikawa Y, Hayasaka K.
    J Hum Genet; 2013 May 17; 58(5):273-8. PubMed ID: 23466821
    [Abstract] [Full Text] [Related]

  • 11. Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.
    Tang B, Liu X, Zhao G, Luo W, Xia K, Pan Q, Cai F, Hu Z, Zhang C, Chen B, Zhang F, Shen L, Zhang R, Jiang H.
    Arch Neurol; 2005 Aug 17; 62(8):1201-7. PubMed ID: 16087758
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations.
    Chung KW, Hyun YS, Lee HJ, Jung HK, Koo H, Yoo JH, Kim SB, Park CI, Kim HN, Choi BO.
    J Peripher Nerv Syst; 2011 Jun 15; 16(2):143-6. PubMed ID: 21692914
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. 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]

  • 16. SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations.
    Latour P, Gonnaud PM, Ollagnon E, Chan V, Perelman S, Stojkovic T, Stoll C, Vial C, Ziegler F, Vandenberghe A, Maire I.
    J Peripher Nerv Syst; 2006 Jun 15; 11(2):148-55. PubMed ID: 16787513
    [Abstract] [Full Text] [Related]

  • 17. Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene.
    Birouk N, Azzedine H, Dubourg O, Muriel MP, Benomar A, Hamadouche T, Maisonobe T, Ouazzani R, Brice A, Yahyaoui M, Chkili T, Le Guern E.
    Arch Neurol; 2003 Apr 15; 60(4):598-604. PubMed ID: 12707075
    [Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No 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 7.