276 related articles for article (PubMed ID: 34389644)
1. Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): genetic and clinical aspects.
Cortese A; Curro' R; Vegezzi E; Yau WY; Houlden H; Reilly MM
Pract Neurol; 2022 Feb; 22(1):14-18. PubMed ID: 34389644
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. Update on Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS).
Dupré M; Hermann R; Froment Tilikete C
Cerebellum; 2021 Oct; 20(5):687-700. PubMed ID: 33011895
[TBL] [Abstract][Full Text] [Related]
7. Can CANVAS due to
Hadjivassiliou M; Currò R; Beauchamp N; Dominik N; Grunewald RA; Shanmugarajah P; Zis P; Hoggard N; Cortese A
J Neurol Neurosurg Psychiatry; 2024 Jan; 95(2):171-174. PubMed ID: 37414537
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (canvas): an important cause of late-onset ataxia with unique clinical features.
Çakar A; Şahin E; Tezel S; Candayan A; Samancı B; Battaloğlu E; Başak AN; Bilgiç B; Hanağası H; Durmuş H; Parman Y
Acta Neurol Belg; 2022 Aug; 122(4):939-945. PubMed ID: 34101140
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Generation and heterozygous repair of human iPSC lines from three individuals with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) carrying biallelic AAGGG expansions in RFC1.
Davies KC; Bozaoglu K; Lockhart PJ
Stem Cell Res; 2023 Apr; 68():103047. PubMed ID: 36805468
[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 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]
15. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with chronic cough and preserved muscle stretch reflexes: evidence for selective sparing of afferent Ia fibres.
Infante J; García A; Serrano-Cárdenas KM; González-Aguado R; Gazulla J; de Lucas EM; Berciano J
J Neurol; 2018 Jun; 265(6):1454-1462. PubMed ID: 29696497
[TBL] [Abstract][Full Text] [Related]
16. [RFC1 Gene: Function and Intronic Repeat Expansion Causing Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome].
Miyatake S; Matsumoto N
Brain Nerve; 2022 Nov; 74(11):1247-1256. PubMed ID: 36343928
[TBL] [Abstract][Full Text] [Related]
17. CANVAS-related RFC1 mutations in patients with immune-mediated neuropathy.
Hirano M; Kuwahara M; Yamagishi Y; Samukawa M; Fujii K; Yamashita S; Ando M; Oka N; Nagano M; Matsui T; Takeuchi T; Saigoh K; Kusunoki S; Takashima H; Nagai Y
Sci Rep; 2023 Oct; 13(1):17801. PubMed ID: 37853169
[TBL] [Abstract][Full Text] [Related]
18. Bilateral vestibulopathy as the initial presentation of CANVAS.
Gordon CR; Zaltzman R; Geisinger D; Elyoseph Z; Gimmon Y
J Neurol Sci; 2024 May; 460():122990. PubMed ID: 38579416
[TBL] [Abstract][Full Text] [Related]
19. Intronic
Pellerin D; Wilke C; Traschütz A; Nagy S; Currò R; Dicaire MJ; Garcia-Moreno H; Anheim M; Wirth T; Faber J; Timmann D; Depienne C; Rujescu D; Gazulla J; Reilly MM; Giunti P; Brais B; Houlden H; Schöls L; Strupp M; Cortese A; Synofzik M
J Neurol Neurosurg Psychiatry; 2024 Jan; 95(2):175-179. PubMed ID: 37399286
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
