161 related articles for article (PubMed ID: 37935417)
1. A Novel Pathogenic Variant in the SCA25-Related Gene Expanding the Etiology of Early-Onset and Progressive Cerebellar Ataxia in Childhood.
Ferrera G; Izzo R; Ghezzi D; Nanetti L; Lamantea E; Ardissone A
Neuropediatrics; 2024 Apr; 55(2):135-139. PubMed ID: 37935417
[TBL] [Abstract][Full Text] [Related]
2. Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Barbier M; Bahlo M; Pennisi A; Jacoupy M; Tankard RM; Ewenczyk C; Davies KC; Lino-Coulon P; Colace C; Rafehi H; Auger N; Ansell BRE; van der Stelt I; Howell KB; Coutelier M; Amor DJ; Mundwiller E; Guillot-Noël L; Storey E; Gardner RJM; Wallis MJ; Brusco A; Corti O; Rötig A; Leventer RJ; Brice A; Delatycki MB; Stevanin G; Lockhart PJ; Durr A
Ann Neurol; 2022 Jul; 92(1):122-137. PubMed ID: 35411967
[TBL] [Abstract][Full Text] [Related]
3. Spinocerebellar ataxia 13 and 25.
Stevanin G; Dürr A
Handb Clin Neurol; 2012; 103():549-53. PubMed ID: 21827913
[TBL] [Abstract][Full Text] [Related]
4. Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration.
Wolf NI; Koenig M
Handb Clin Neurol; 2013; 113():1869-78. PubMed ID: 23622410
[TBL] [Abstract][Full Text] [Related]
5. Autosomal dominant cerebellar ataxias: new genes and progress towards treatments.
Coarelli G; Coutelier M; Durr A
Lancet Neurol; 2023 Aug; 22(8):735-749. PubMed ID: 37479376
[TBL] [Abstract][Full Text] [Related]
6. Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn.
Efthymiou S; Novis LE; Koutsis G; Koniari C; Maroofian R; Turchetti V; Velonakis G; Vasconcellos LF; Raskin S; Srinivasan VM; Pagnamenta AT; Arun YB; Kinhal UV; Gowda VK; Teive HAG; Houlden H
Ann Clin Transl Neurol; 2023 Oct; 10(10):1910-1916. PubMed ID: 37553803
[TBL] [Abstract][Full Text] [Related]
7. Discovery of a de novo ITPR1 missense mutation in a patient with early-onset cerebellar ataxia: A rare case report of spinocerebellar ataxia 29.
In Lee J; Choi JY; Yang SS
Mol Genet Genomic Med; 2024 Jun; 12(6):e2466. PubMed ID: 38860480
[TBL] [Abstract][Full Text] [Related]
8. Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia.
Accogli A; St-Onge J; Addour-Boudrahem N; Lafond-Lapalme J; Laporte AD; Rouleau GA; Rivière JB; Srour M
J Child Neurol; 2020 Feb; 35(2):106-110. PubMed ID: 31617442
[TBL] [Abstract][Full Text] [Related]
9. Rare forms of autosomal recessive neurodegenerative ataxia.
Koenig M
Semin Pediatr Neurol; 2003 Sep; 10(3):183-92. PubMed ID: 14653406
[TBL] [Abstract][Full Text] [Related]
10. Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p.
Stevanin G; Bouslam N; Thobois S; Azzedine H; Ravaux L; Boland A; Schalling M; Broussolle E; Dürr A; Brice A
Ann Neurol; 2004 Jan; 55(1):97-104. PubMed ID: 14705117
[TBL] [Abstract][Full Text] [Related]
11. Spinocerebellar ataxia with sensory neuropathy (SCA25).
Stevanin G; Broussolle E; Streichenberger N; Kopp N; Brice A; Durr A
Cerebellum; 2005; 4(1):58-61. PubMed ID: 15895562
[TBL] [Abstract][Full Text] [Related]
12. The wide spectrum of spinocerebellar ataxias (SCAs).
Manto MU
Cerebellum; 2005; 4(1):2-6. PubMed ID: 15895552
[TBL] [Abstract][Full Text] [Related]
13. Spinocerebellar ataxia 27B (SCA27B), a frequent late-onset cerebellar ataxia.
Clément G; Puisieux S; Pellerin D; Brais B; Bonnet C; Renaud M
Rev Neurol (Paris); 2024 May; 180(5):410-416. PubMed ID: 38609751
[TBL] [Abstract][Full Text] [Related]
14. Spinocerebellar ataxia type 11 (SCA11): An update.
Gong Z; Lei L
Eur J Neurosci; 2023 Jul; 58(2):2623-2640. PubMed ID: 37329117
[TBL] [Abstract][Full Text] [Related]
15. Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.
Whaley NR; Fujioka S; Wszolek ZK
Orphanet J Rare Dis; 2011 May; 6():33. PubMed ID: 21619691
[TBL] [Abstract][Full Text] [Related]
16. Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37.
Corral-Juan M; Serrano-Munuera C; Rábano A; Cota-González D; Segarra-Roca A; Ispierto L; Cano-Orgaz AT; Adarmes AD; Méndez-Del-Barrio C; Jesús S; Mir P; Volpini V; Alvarez-Ramo R; Sánchez I; Matilla-Dueñas A
Brain; 2018 Jul; 141(7):1981-1997. PubMed ID: 29939198
[TBL] [Abstract][Full Text] [Related]
17. Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: a novel entity?
Wictorin K; Brådvik B; Nilsson K; Soller M; van Westen D; Bynke G; Bauer P; Schöls L; Puschmann A
Parkinsonism Relat Disord; 2014 Jul; 20(7):748-54. PubMed ID: 24787759
[TBL] [Abstract][Full Text] [Related]
18. A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report.
Gyening YK; Boris K; Cyril M; Brush RS; Nassogne MC; Agbaga MP
Acta Neuropathol Commun; 2023 Aug; 11(1):131. PubMed ID: 37568198
[TBL] [Abstract][Full Text] [Related]
19. Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17.
Ruan M; Wang H; Zhu M; Sun R; Shi J; Wang Q; Chen Y; Wang Y; Wang D
J Clin Lab Anal; 2022 Dec; 36(12):e24767. PubMed ID: 36357319
[TBL] [Abstract][Full Text] [Related]
20. Spinocerebellar ataxia type 23 (SCA23): a review.
Wu F; Wang X; Li X; Teng H; Tian T; Bai J
J Neurol; 2021 Dec; 268(12):4630-4645. PubMed ID: 33175256
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
