229 related articles for article (PubMed ID: 35864213)
1. Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia.
Ghorbani F; de Boer-Bergsma J; Verschuuren-Bemelmans CC; Pennings M; de Boer EN; Kremer B; Vanhoutte EK; de Vries JJ; van de Berg R; Kamsteeg EJ; van Diemen CC; Westers H; van de Warrenburg BP; Verbeek DS
J Neurol; 2022 Nov; 269(11):6086-6093. PubMed ID: 35864213
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Association of biallelic RFC1 expansion with early-onset Parkinson's disease.
Ylikotila P; Sipilä J; Alapirtti T; Ahmasalo R; Koshimizu E; Miyatake S; Hurme-Niiranen A; Siitonen A; Doi H; Tanaka F; Matsumoto N; Majamaa K; Kytövuori L
Eur J Neurol; 2023 May; 30(5):1256-1261. PubMed ID: 36705320
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. [RFC1 CANVAS/Spectrum Disorder: Historical Details and Clinical Diversity].
Yoshida K
Brain Nerve; 2022 Nov; 74(11):1237-1246. PubMed ID: 36343927
[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. RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia.
Beijer D; Dohrn MF; De Winter J; Fazal S; Cortese A; Stojkovic T; Fernández-Eulate G; Remiche G; Gentile M; Van Coster R; Dufke C; Synofzik M; De Jonghe P; Züchner S; Baets J
Eur J Neurol; 2022 Jul; 29(7):2156-2161. PubMed ID: 35253317
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. RFC1 repeat expansions and cerebellar ataxia, neuropathy and vestibular areflexia syndrome: Experience and perspectives from a neuromuscular disorders unit.
Sánchez-Tejerina D; Alvarez PF; Laínez E; Martinez VG; Santa-Cruz DI; Verdaguer L; Gratacòs M; Seoane JL; Raguer N; Hernández-Vara J; Llauradó A; Sotoca J; Salvado M; Arumi EG; Tizzano EF; Juntas R
J Neurol Sci; 2023 Mar; 446():120565. PubMed ID: 36753892
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Biallelic Intronic AAGGG Expansion of RFC1 is Related to Multiple System Atrophy.
Wan L; Chen Z; Wan N; Liu M; Xue J; Chen H; Zhang Y; Peng Y; Tang Z; Gong Y; Yuan H; Wang S; Deng Q; Hou X; Wang C; Peng H; Shi Y; Peng L; Lei L; Duan R; Xia K; Qiu R; Shen L; Tang B; Ashizawa T; Jiang H
Ann Neurol; 2020 Dec; 88(6):1132-1143. PubMed ID: 32939785
[TBL] [Abstract][Full Text] [Related]
17. No biallelic intronic AAGGG repeat expansion in RFC1 was found in patients with late-onset ataxia and MSA.
Fan Y; Zhang S; Yang J; Mao CY; Yang ZH; Hu ZW; Wang YL; Liu YT; Liu H; Yuan YP; Shi CH; Xu YM
Parkinsonism Relat Disord; 2020 Apr; 73():1-2. PubMed ID: 32151945
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Cortese A; Tozza S; Yau WY; Rossi S; Beecroft SJ; Jaunmuktane Z; Dyer Z; Ravenscroft G; Lamont PJ; Mossman S; Chancellor A; Maisonobe T; Pereon Y; Cauquil C; Colnaghi S; Mallucci G; Curro R; Tomaselli PJ; Thomas-Black G; Sullivan R; Efthymiou S; Rossor AM; Laurá M; Pipis M; Horga A; Polke J; Kaski D; Horvath R; Chinnery PF; Marques W; Tassorelli C; Devigili G; Leonardis L; Wood NW; Bronstein A; Giunti P; Züchner S; Stojkovic T; Laing N; Roxburgh RH; Houlden H; Reilly MM
Brain; 2020 Feb; 143(2):480-490. PubMed ID: 32040566
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
