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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

125 related articles for article (PubMed ID: 38447794)

  • 1. Structural polymorphism of the nucleic acids in pentanucleotide repeats associated with the neurological disorder CANVAS.
    Kudo K; Hori K; Asamitsu S; Maeda K; Aida Y; Hokimoto M; Matsuo K; Yabuki Y; Shioda N
    J Biol Chem; 2024 Apr; 300(4):107138. PubMed ID: 38447794
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical spectrum of the pentanucleotide repeat expansion in the
    Gisatulin M; Dobricic V; Zühlke C; Hellenbroich Y; Tadic V; Münchau A; Isenhardt K; Bürk K; Bahlo M; Lockhart PJ; Lohmann K; Helmchen C; Brüggemann N
    Neurology; 2020 Nov; 95(21):e2912-e2923. PubMed ID: 32873692
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Structural investigation of pathogenic RFC1 AAGGG pentanucleotide repeats reveals a role of G-quadruplex in dysregulated gene expression in CANVAS.
    Wang Y; Wang J; Yan Z; Hou J; Wan L; Yang Y; Liu Y; Yi J; Guo P; Han D
    Nucleic Acids Res; 2024 Mar; 52(5):2698-2710. PubMed ID: 38266156
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome.
    Miyatake S; Yoshida K; Koshimizu E; Doi H; Yamada M; Miyaji Y; Ueda N; Tsuyuzaki J; Kodaira M; Onoue H; Taguri M; Imamura S; Fukuda H; Hamanaka K; Fujita A; Satoh M; Miyama T; Watanabe N; Kurita Y; Okubo M; Tanaka K; Kishida H; Koyano S; Takahashi T; Ono Y; Higashida K; Yoshikura N; Ogata K; Kato R; Tsuchida N; Uchiyama Y; Miyake N; Shimohata T; Tanaka F; Mizuguchi T; Matsumoto N
    Brain; 2022 Apr; 145(3):1139-1150. PubMed ID: 35355059
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Biallelic RFC1 pentanucleotide repeat expansions in Greek patients with late-onset ataxia.
    Kontogeorgiou Z; Kartanou C; Tsirligkani C; Anagnostou E; Rentzos M; Stefanis L; Karadima G; Koutsis G
    Clin Genet; 2021 Jul; 100(1):90-94. PubMed ID: 33745133
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Pathogenic CANVAS-causing but not nonpathogenic RFC1 DNA/RNA repeat motifs form quadruplex or triplex structures.
    Abdi MH; Zamiri B; Pazuki G; Sardari S; Pearson CE
    J Biol Chem; 2023 Oct; 299(10):105202. PubMed ID: 37660923
    [TBL] [Abstract][Full Text] [Related]  

  • 7. New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene.
    Arteche-López A; Avila-Fernandez A; Damian A; Soengas-Gonda E; de la Fuente RP; Gómez PR; Merlo JG; Burgos LH; Fernández CC; Rosales JML; Martínez JFG; Quesada-Espinosa JF; Corton M; Guerrero-Molina MP
    Clin Genet; 2023 Feb; 103(2):236-241. PubMed ID: 36250766
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.
    Scriba CK; Beecroft SJ; Clayton JS; Cortese A; Sullivan R; Yau WY; Dominik N; Rodrigues M; Walker E; Dyer Z; Wu TY; Davis MR; Chandler DC; Weisburd B; Houlden H; Reilly MM; Laing NG; Lamont PJ; Roxburgh RH; Ravenscroft G
    Brain; 2020 Oct; 143(10):2904-2910. PubMed ID: 33103729
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort.
    Tyagi N; Uppili B; Sharma P; Parveen S; Saifi S; Jain A; Sonakar A; Ahmed I; Sahni S; Shamim U; Anand A; Suroliya V; Asokachandran V; Srivastava A; Sivasubbu S; Scaria V; Faruq M
    Neurogenetics; 2024 Jan; 25(1):13-25. PubMed ID: 37917284
    [TBL] [Abstract][Full Text] [Related]  

  • 10. RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.
    Benkirane M; Da Cunha D; Marelli C; Larrieu L; Renaud M; Varilh J; Pointaux M; Baux D; Ardouin O; Vangoethem C; Taulan M; Daumas Duport B; Bergougnoux A; Corbillé AG; Cossée M; Juntas Morales R; Tuffery-Giraud S; Koenig M; Isidor B; Vincent MC
    Brain; 2022 Nov; 145(11):3770-3775. PubMed ID: 35883251
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Truncating Variants in
    Ronco R; Perini C; Currò R; Dominik N; Facchini S; Gennari A; Simone R; Stuart S; Nagy S; Vegezzi E; Quartesan I; El-Saddig A; Lavin T; Tucci A; Szymura A; Novis De Farias LE; Gary A; Delfeld M; Kandikatla P; Niu N; Tawde S; Shaw J; Polke J; Reilly MM; Wood NW; Crespan E; Gomez C; Chen JYH; Schmahmann JD; Gosal D; Houlden H; Das S; Cortese A
    Neurology; 2023 Jan; 100(5):e543-e554. PubMed ID: 36289003
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
    Dominik N; Magri S; Currò R; Abati E; Facchini S; Corbetta M; Macpherson H; Di Bella D; Sarto E; Stevanovski I; Chintalaphani SR; Akcimen F; Manini A; Vegezzi E; Quartesan I; Montgomery KA; Pirota V; Crespan E; Perini C; Grupelli GP; Tomaselli PJ; Marques W; ; Shaw J; Polke J; Salsano E; Fenu S; Pareyson D; Pisciotta C; Tofaris GK; Nemeth AH; Ealing J; Radunovic A; Kearney S; Kumar KR; Vucic S; Kennerson M; Reilly MM; Houlden H; Deveson I; Tucci A; Taroni F; Cortese A
    Brain; 2023 Dec; 146(12):5060-5069. PubMed ID: 37450567
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
    Rafehi H; Szmulewicz DJ; Bennett MF; Sobreira NLM; Pope K; Smith KR; Gillies G; Diakumis P; Dolzhenko E; Eberle MA; Barcina MG; Breen DP; Chancellor AM; Cremer PD; Delatycki MB; Fogel BL; Hackett A; Halmagyi GM; Kapetanovic S; Lang A; Mossman S; Mu W; Patrikios P; Perlman SL; Rosemergy I; Storey E; Watson SRD; Wilson MA; Zee DS; Valle D; Amor DJ; Bahlo M; Lockhart PJ
    Am J Hum Genet; 2019 Jul; 105(1):151-165. PubMed ID: 31230722
    [TBL] [Abstract][Full Text] [Related]  

  • 14. CANVAS: a late onset ataxia due to biallelic intronic AAGGG expansions.
    Dominik N; Galassi Deforie V; Cortese A; Houlden H
    J Neurol; 2021 Mar; 268(3):1119-1126. PubMed ID: 32910249
    [TBL] [Abstract][Full Text] [Related]  

  • 15. RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia.
    Tsuchiya M; Nan H; Koh K; Ichinose Y; Gao L; Shimozono K; Hata T; Kim YJ; Ohtsuka T; Cortese A; Takiyama Y
    J Hum Genet; 2020 Dec; 65(12):1143-1147. PubMed ID: 32694621
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetic and clinical features of cerebellar ataxia with
    Ando M; Higuchi Y; Yuan JH; Yoshimura A; Higashi S; Takeuchi M; Hobara T; Kojima F; Noguchi Y; Takei J; Hiramatsu Y; Nozuma S; Sakiyama Y; Hashiguchi A; Matsuura E; Okamoto Y; Nagai M; Takashima H
    Front Neurol; 2022; 13():952493. PubMed ID: 36034314
    [TBL] [Abstract][Full Text] [Related]  

  • 17. AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS Neurons.
    Maltby CJ; Krans A; Grudzien SJ; Palacios Y; Muiños J; Suárez A; Asher M; Khurana V; Barmada SJ; Dijkstra AA; Todd PK
    bioRxiv; 2023 Dec; ():. PubMed ID: 38168171
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Motor Neuron Involvement in RFC1 CANVAS/Spectrum Disorders].
    Miyaji Y; Doi H; Tanaka F
    Brain Nerve; 2022 Nov; 74(11):1287-1291. PubMed ID: 36343934
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort.
    Montaut S; Diedhiou N; Fahrer P; Marelli C; Lhermitte B; Robelin L; Vincent MC; Corti L; Taieb G; Gebus O; Rudolf G; Tarabeux J; Dondaine N; Canuet M; Almeras M; Benkirane M; Larrieu L; Chanson JB; Nadaj-Pakleza A; Echaniz-Laguna A; Cauquil C; Lannes B; Chelly J; Anheim M; Puccio H; Tranchant C
    J Neurol; 2021 Sep; 268(9):3337-3343. PubMed ID: 33666721
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 7.