134 related articles for article (PubMed ID: 38835435)
1. Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): from clinical diagnosis towards genetic testing.
Thieme A; Depienne C; Timmann D
Med Genet; 2021 Dec; 33(4):301-310. PubMed ID: 38835435
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. [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]
7. 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]
8. Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
Traschütz A; Cortese A; Reich S; Dominik N; Faber J; Jacobi H; Hartmann AM; Rujescu D; Montaut S; Echaniz-Laguna A; Erer S; Schütz VC; Tarnutzer AA; Sturm M; Haack TB; Vaucamps-Diedhiou N; Puccio H; Schöls L; Klockgether T; van de Warrenburg BP; Paucar M; Timmann D; Hilgers RD; Gazulla J; Strupp M; Moris G; Filla A; Houlden H; Anheim M; Infante J; Basak AN; Synofzik M;
Neurology; 2021 Mar; 96(9):e1369-e1382. PubMed ID: 33495376
[TBL] [Abstract][Full Text] [Related]
9. Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1.
Malaquias MJ; Mendes Pinto C; Sardoeira A; Oliveira J; Parente Freixo J; Aires Silva A; Abreu P; Rosado Coelho C; Damásio J; Vila-Chã N; Magalhães M
Neurol Sci; 2021 Feb; 42(2):749-753. PubMed ID: 33188504
[TBL] [Abstract][Full Text] [Related]
10. 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]
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. 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]
13. 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]
14. An Updated Canvas of the RFC1-mediated CANVAS (Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome).
Shukla S; Gupta K; Singh K; Mishra A; Kumar A
Mol Neurobiol; 2024 Jun; ():. PubMed ID: 38898197
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. [Subacute ataxia associated with cerebellar ataxia, neuropathy and vestibular areflexia (CANVAS)].
Yacovino DA; Gomez A; Mayer MB; Fay F
Medicina (B Aires); 2024; 84(3):555-559. PubMed ID: 38907973
[TBL] [Abstract][Full Text] [Related]
17. Chronic Cough as a Genetic Neurological Disorder? Insights from Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS).
Turner RD; Hirons B; Cortese A; Birring SS
Lung; 2023 Dec; 201(6):511-519. PubMed ID: 37979058
[TBL] [Abstract][Full Text] [Related]
18.
Davies K; Szmulewicz DJ; Corben LA; Delatycki M; Lockhart PJ
Neurol Genet; 2022 Oct; 8(5):e200016. PubMed ID: 36046423
[TBL] [Abstract][Full Text] [Related]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
