BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

173 related articles for article (PubMed ID: 35482004)

  • 1. Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan.
    Ando M; Higuchi Y; Yuan JH; Yoshimura A; Kitao R; Morimoto T; Taniguchi T; Takeuchi M; Takei J; Hiramatsu Y; Sakiyama Y; Hashiguchi A; Okamoto Y; Mitsui J; Ishiura H; Tsuji S; Takashima H
    Ann Clin Transl Neurol; 2022 May; 9(5):747-755. PubMed ID: 35482004
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A de novo variant of POLR3B causes demyelinating Charcot-Marie-Tooth disease in a Chinese patient: a case report.
    Xue YY; Cheng HL; Dong HL; Yin HM; Yuan Y; Meng LC; Wu ZY; Yu H
    BMC Neurol; 2021 Oct; 21(1):402. PubMed ID: 34666706
    [TBL] [Abstract][Full Text] [Related]  

  • 3. De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.
    Djordjevic D; Pinard M; Gauthier MS; Smith-Hicks C; Hoffman TL; Wolf NI; Oegema R; van Binsbergen E; Baskin B; Bernard G; Fribourg S; Coulombe B; Yoon G
    Am J Hum Genet; 2021 Jan; 108(1):186-193. PubMed ID: 33417887
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.
    Geroldi A; Tozza S; Fiorillo C; Nolano M; Fossa P; Vitale F; Domi R; Gaudio A; Mammi A; Patrone S; Barbera A; Origone P; Ponti C; Sanguineri F; Zara F; Cataldi M; Salpietro V; Venturi CB; Massucco S; Schenone A; Manganelli F; Mandich P; Bellone E; Gotta F
    J Peripher Nerv Syst; 2023 Dec; 28(4):620-628. PubMed ID: 37897416
    [TBL] [Abstract][Full Text] [Related]  

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

  • 6. A New Case of Autosomal-Dominant
    Colona VL; Bertini E; Digilio MC; D'Amico A; Novelli A; Pro S; Pisaneschi E; Nicita F
    Brain Sci; 2023 Nov; 13(11):. PubMed ID: 38002527
    [No Abstract]   [Full Text] [Related]  

  • 7. Identification of POLR3B biallelic mutations-associated hypomyelinating leukodystrophy-8 in two siblings.
    Yang F; Sun H; Yang Y; Wang Y; Dai S; Lin Z; Shen Y; Liu H
    Clin Genet; 2023 May; 103(5):596-602. PubMed ID: 36650939
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Compound Heterozygous Mutations of
    Pi BK; Chung YH; Kim HS; Nam SH; Lee AJ; Nam DE; Park HJ; Kim SB; Chung KW; Choi BO
    Int J Mol Sci; 2024 Jun; 25(12):. PubMed ID: 38928084
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 263(2):361-369. PubMed ID: 26645395
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Phenotype-driven reanalysis reveals five novel pathogenic variants in 40 exome-negative families with Charcot-Marie-Tooth Disease.
    Lin Z; Liu L; Li X; Huang S; Zhao H; Zeng S; Yang H; Xie Y; Zhang R
    J Neurol; 2024 Jan; 271(1):497-503. PubMed ID: 37776383
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 58(5):273-8. PubMed ID: 23466821
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan.
    Ando M; Okamoto Y; Yoshimura A; Yuan JH; Hiramatsu Y; Higuchi Y; Hashiguchi A; Mitsui J; Ishiura H; Fukumura S; Matsushima M; Ochi N; Tsugawa J; Morishita S; Tsuji S; Takashima H
    Eur J Neurol; 2017 Oct; 24(10):1274-1282. PubMed ID: 28771897
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.
    Taioli F; Cabrini I; Cavallaro T; Acler M; Fabrizi GM
    Brain; 2011 Feb; 134(Pt 2):608-17. PubMed ID: 21252112
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 139(Pt 1):62-72. PubMed ID: 26497905
    [TBL] [Abstract][Full Text] [Related]  

  • 15.
    Park J; Flores BR; Scherer K; Kuepper H; Rossi M; Rupprich K; Rautenberg M; Deininger N; Weichselbaum A; Grimm A; Sturm M; Grasshoff U; Delpire E; Haack TB
    J Med Genet; 2020 Apr; 57(4):283-288. PubMed ID: 31439721
    [TBL] [Abstract][Full Text] [Related]  

  • 16. POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene.
    Kulhánek J; Brožová K; Hansíková H; Vondráčková A; Stránecký V; Šenkyřík J; Kmoch S; Zeman J; Honzík T; Tesařová M
    Neurol Neurochir Pol; 2019; 53(5):369-376. PubMed ID: 31577365
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis.
    Choquet K; Pinard M; Yang S; Moir RD; Poitras C; Dicaire MJ; Sgarioto N; Larivière R; Kleinman CL; Willis IM; Gauthier MS; Coulombe B; Brais B
    Mol Brain; 2019 Jun; 12(1):59. PubMed ID: 31221184
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.
    Higuchi Y; Hashiguchi A; Yuan J; Yoshimura A; Mitsui J; Ishiura H; Tanaka M; Ishihara S; Tanabe H; Nozuma S; Okamoto Y; Matsuura E; Ohkubo R; Inamizu S; Shiraishi W; Yamasaki R; Ohyagi Y; Kira J; Oya Y; Yabe H; Nishikawa N; Tobisawa S; Matsuda N; Masuda M; Kugimoto C; Fukushima K; Yano S; Yoshimura J; Doi K; Nakagawa M; Morishita S; Tsuji S; Takashima H
    Ann Neurol; 2016 Apr; 79(4):659-72. PubMed ID: 26991897
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.
    Chung KW; Kim SB; Park KD; Choi KG; Lee JH; Eun HW; Suh JS; Hwang JH; Kim WK; Seo BC; Kim SH; Son IH; Kim SM; Sunwoo IN; Choi BO
    Brain; 2006 Aug; 129(Pt 8):2103-18. PubMed ID: 16835246
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features.
    Bombelli F; Stojkovic T; Dubourg O; Echaniz-Laguna A; Tardieu S; Larcher K; Amati-Bonneau P; Latour P; Vignal O; Cazeneuve C; Brice A; Leguern E
    JAMA Neurol; 2014 Aug; 71(8):1036-42. PubMed ID: 24957169
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.