205 related articles for article (PubMed ID: 38193360)
21. 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]
22. Motor neuron pathology in CANVAS due to RFC1 expansions.
Huin V; Coarelli G; Guemy C; Boluda S; Debs R; Mochel F; Stojkovic T; Grabli D; Maisonobe T; Gaymard B; Lenglet T; Tard C; Davion JB; Sablonnière B; Monin ML; Ewenczyk C; Viala K; Charles P; Le Ber I; Reilly MM; Houlden H; Cortese A; Seilhean D; Brice A; Durr A
Brain; 2022 Jun; 145(6):2121-2132. PubMed ID: 34927205
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. 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]
25. Profiling complex repeat expansions in RFC1 in Parkinson's disease.
Alvarez Jerez P; Daida K; Miano-Burkhardt A; Iwaki H; Malik L; Cogan G; Makarious MB; Sullivan R; Vandrovcova J; Ding J; Gibbs JR; Markham A; Nalls MA; Kesharwani RK; Sedlazeck FJ; Casey B; Hardy J; Houlden H; Blauwendraat C; Singleton AB; Billingsley KJ
NPJ Parkinsons Dis; 2024 May; 10(1):108. PubMed ID: 38789445
[TBL] [Abstract][Full Text] [Related]
26. [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]
27. 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]
28. 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]
29. 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]
30. 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]
31. 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]
32. Frequency and Phenotype of
Traschütz A; Heindl F; Bilal M; Hartmann AM; Dufke C; Riess O; Zwergal A; Rujescu D; Haack T; Synofzik M; Strupp M
Neurology; 2023 Sep; 101(10):e1001-e1013. PubMed ID: 37460231
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. 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]
35. 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]
36. 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]
37. Optical Genome Mapping Enables Detection and Accurate Sizing of
Facchini S; Dominik N; Manini A; Efthymiou S; Currò R; Rugginini B; Vegezzi E; Quartesan I; Perrone B; Kutty SK; Galassi Deforie V; Schnekenberg RP; Abati E; Pichiecchio A; Valente EM; Tassorelli C; Reilly MM; Houlden H; Bugiardini E; Cortese A
Biomolecules; 2023 Oct; 13(10):. PubMed ID: 37892228
[TBL] [Abstract][Full Text] [Related]
38. [CANVAS: case report on a novel repeat expansion disorder with late-onset ataxia].
Meindl T; Cordts I; Scherzer AL; Lingor P; Maegerlein C; Galassi Deforie V; Dominik N; Houlden H; Cortese A; Deschauer M
Nervenarzt; 2020 Jun; 91(6):537-540. PubMed ID: 32367146
[TBL] [Abstract][Full Text] [Related]
39. Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family-causal or casual?
Colucci F; Di Bella D; Pisciotta C; Sarto E; Gualandi F; Neri M; Ferlini A; Contaldi E; Pugliatti M; Pareyson D; Sensi M
Neurol Sci; 2022 Aug; 43(8):5095-5098. PubMed ID: 35585435
[TBL] [Abstract][Full Text] [Related]
40. Cognitive Impairment Is Part of the Phenotype of Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS).
Dujardin K; Tard C; Diglé E; Herlin V; Mutez E; Davion JB; Wissocq A; Delforge V; Kuchcinski G; Huin V
Mov Disord; 2024 May; 39(5):892-897. PubMed ID: 38480525
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]