BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

140 related articles for article (PubMed ID: 26365775)

  • 1. Mutations in RNF216 do not cause 4H syndrome.
    Wolf NI; Bernard G
    Parkinsonism Relat Disord; 2015 Nov; 21(11):1387-8. PubMed ID: 26365775
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Syndromic associations and RNF216 mutations.
    Ganos C; Hersheson J; Adams M; Bhatia KP; Houlden H
    Parkinsonism Relat Disord; 2015 Nov; 21(11):1389-90. PubMed ID: 26421393
    [No Abstract]   [Full Text] [Related]  

  • 3. The 4H syndrome due to RNF216 mutation.
    Ganos C; Hersheson J; Adams M; Bhatia KP; Houlden H
    Parkinsonism Relat Disord; 2015 Sep; 21(9):1122-3. PubMed ID: 26250479
    [No Abstract]   [Full Text] [Related]  

  • 4. A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome.
    Durmaz Çelik N; Erzurumluoğlu E; Özben S; Toprak U; Yorulmaz G; Artan S; Özkan S
    BMC Med Genomics; 2023 May; 16(1):98. PubMed ID: 37161390
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel mutation in
    Bal Kallupurakkal A; Verma R; Chakraborty R
    BMJ Case Rep; 2023 Nov; 16(11):. PubMed ID: 37977846
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Whole-Exome Sequencing Identified a Novel Mutation in RNF216 in a Family with Gordon Holmes Syndrome.
    Chen KL; Wang H; Zhao GX; Wei L; Huang YY; Chen SD; Sun J; Dong Q; Cui M; Yu JT
    J Mol Neurosci; 2022 Apr; 72(4):691-694. PubMed ID: 35088240
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mechanism and chain specificity of RNF216/TRIAD3, the ubiquitin ligase mutated in Gordon Holmes syndrome.
    Seenivasan R; Hermanns T; Blyszcz T; Lammers M; Praefcke GJK; Hofmann K
    Hum Mol Genet; 2019 Sep; 28(17):2862-2873. PubMed ID: 31087003
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Structural basis of K63-ubiquitin chain formation by the Gordon-Holmes syndrome RBR E3 ubiquitin ligase RNF216.
    Cotton TR; Cobbold SA; Bernardini JP; Richardson LW; Wang XS; Lechtenberg BC
    Mol Cell; 2022 Feb; 82(3):598-615.e8. PubMed ID: 34998453
    [TBL] [Abstract][Full Text] [Related]  

  • 9. TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation.
    Husain N; Yuan Q; Yen YC; Pletnikova O; Sally DQ; Worley P; Bichler Z; Shawn Je H
    Aging Cell; 2017 Apr; 16(2):281-292. PubMed ID: 27995769
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Gordon Holmes syndrome caused by two novel mutations in the PNPLA6 gene.
    Locci S; Bianchi S; Tessa A; Santorelli FM; Mignarri A
    Clin Neurol Neurosurg; 2021 Aug; 207():106763. PubMed ID: 34157508
    [TBL] [Abstract][Full Text] [Related]  

  • 11. STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations.
    Hayer SN; Deconinck T; Bender B; Smets K; Züchner S; Reich S; Schöls L; Schüle R; De Jonghe P; Baets J; Synofzik M
    Orphanet J Rare Dis; 2017 Feb; 12(1):31. PubMed ID: 28193273
    [TBL] [Abstract][Full Text] [Related]  

  • 12. PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
    Synofzik M; Gonzalez MA; Lourenco CM; Coutelier M; Haack TB; Rebelo A; Hannequin D; Strom TM; Prokisch H; Kernstock C; Durr A; Schöls L; Lima-Martínez MM; Farooq A; Schüle R; Stevanin G; Marques W; Züchner S
    Brain; 2014 Jan; 137(Pt 1):69-77. PubMed ID: 24355708
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Gordon Holmes syndrome: finally genotype meets phenotype.
    Mehmood S; Hoggard N; Hadjivassiliou M
    Pract Neurol; 2017 Dec; 17(6):476-478. PubMed ID: 28972031
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical and Genetic Characterization of Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16) in Taiwan.
    Chiu HH; Hsaio CT; Tsai YS; Liao YC; Lee YC; Soong BW
    Cerebellum; 2020 Aug; 19(4):544-549. PubMed ID: 32367277
    [TBL] [Abstract][Full Text] [Related]  

  • 15. RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder.
    Santens P; Van Damme T; Steyaert W; Willaert A; Sablonnière B; De Paepe A; Coucke PJ; Dermaut B
    Neurology; 2015 Apr; 84(17):1760-6. PubMed ID: 25841028
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes.
    De Michele G; Maione L; Cocozza S; Tranfa M; Pane C; Galatolo D; De Rosa A; De Michele G; Saccà F; Filla A
    Cerebellum; 2024 Apr; 23(2):688-701. PubMed ID: 36997834
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical and genetic spectrum of
    Wu C; Zhang Z
    J Med Genet; 2024 Apr; 61(5):430-434. PubMed ID: 38050071
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Establishment of FDHSi003-A, a human induced pluripotent stem cell (hiPSC) line with a mutation of RNF216 c.1948G > T.
    Xu W; Chen K; Guo M; Dong Q; Cui M
    Stem Cell Res; 2024 Apr; 76():103347. PubMed ID: 38377650
    [TBL] [Abstract][Full Text] [Related]  

  • 19. RNF216 is essential for spermatogenesis and male fertility†.
    Melnick AF; Gao Y; Liu J; Ding D; Predom A; Kelly C; Hess RA; Chen C
    Biol Reprod; 2019 May; 100(5):1132-1134. PubMed ID: 30649198
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP.
    Shi CH; Schisler JC; Rubel CE; Tan S; Song B; McDonough H; Xu L; Portbury AL; Mao CY; True C; Wang RH; Wang QZ; Sun SL; Seminara SB; Patterson C; Xu YM
    Hum Mol Genet; 2014 Feb; 23(4):1013-24. PubMed ID: 24113144
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.