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Journal Abstract Search

110 related items for PubMed ID: 31152969

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  • 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
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  • 3. 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
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  • 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 Dec 15; 11(1):221-232. PubMed ID: 38108359
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  • 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 15; 17(2):141-6. PubMed ID: 22734899
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  • 7. 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
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  • 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 15; 27(10):959-961. PubMed ID: 28847448
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  • 9. 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
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  • 10. 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
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  • 16. 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
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  • 17. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
    Sevilla T, Lupo V, Martínez-Rubio D, Sancho P, Sivera R, Chumillas MJ, García-Romero M, Pascual-Pascual SI, Muelas N, Dopazo J, Vílchez JJ, Palau F, Espinós C.
    Brain; 2016 Jan 02; 139(Pt 1):62-72. PubMed ID: 26497905
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  • 18. 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 02; 22(3):224-225. PubMed ID: 28543957
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  • 19. 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 02; 58(5):273-8. PubMed ID: 23466821
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  • 20. NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.
    Berciano J, Peeters K, García A, López-Alburquerque T, Gallardo E, Hernández-Fabián A, Pelayo-Negro AL, De Vriendt E, Infante J, Jordanova A.
    J Neurol; 2016 Feb 02; 263(2):361-369. PubMed ID: 26645395
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