These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
6. A Chinese SCA36 pedigree analysis of Zou J; Wang F; Gong Z; Wang R; Chen S; Zhang H; Sun R; Gao C; Li W; Shang J; Zhang J Front Genet; 2023; 14():1110307. PubMed ID: 37051597 [No Abstract] [Full Text] [Related]
14. Long-read sequencing identified intronic (GGCCTG)n expansion in NOP56 in one SCA36 family and literature review. Wang Q; Zhang C; Liu S; Liu T; Ni R; Liu X; Zhong P; Wu Q; Xu T; Ke H; Tian W; Cao L Clin Neurol Neurosurg; 2022 Dec; 223():107503. PubMed ID: 36368168 [TBL] [Abstract][Full Text] [Related]
15. Hexanucleotide repeat expansion in SCA36 reduces the expression of genes involved in ribosome biosynthesis and protein translation. Morikawa T; Miura S; Uchiyama Y; Hiruki S; Sun Y; Fujioka R; Shibata H J Hum Genet; 2024 May; ():. PubMed ID: 38811808 [TBL] [Abstract][Full Text] [Related]
16. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Brusco A; Gellera C; Cagnoli C; Saluto A; Castucci A; Michielotto C; Fetoni V; Mariotti C; Migone N; Di Donato S; Taroni F Arch Neurol; 2004 May; 61(5):727-33. PubMed ID: 15148151 [TBL] [Abstract][Full Text] [Related]
17. Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three-Generation Family Using Short-Read Whole-Genome Sequencing Data. Rafehi H; Szmulewicz DJ; Pope K; Wallis M; Christodoulou J; White SM; Delatycki MB; Lockhart PJ; Bahlo M Mov Disord; 2020 Sep; 35(9):1675-1679. PubMed ID: 32407596 [TBL] [Abstract][Full Text] [Related]
18. Repeats expansions in Nel M; Mavundla T; Gultig K; Botha G; Mulder N; Benatar M; Wuu J; Cooley A; Myers J; Rampersaud E; Wu G; Heckmann JM IBRO Neurosci Rep; 2021 Jun; 10():130-135. PubMed ID: 34179866 [TBL] [Abstract][Full Text] [Related]
19. Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes. Méreaux JL; Davoine CS; Coutelier M; Guillot-Noël L; Castrioto A; Charles P; Coarelli G; Ewenczyk C; Klebe S; Heinzmann A; Méneret A; Fauret-Amsellem AL; de Sainte Agathe JM; Brice A; Durr A J Med Genet; 2023 Jul; 60(7):717-721. PubMed ID: 36599645 [TBL] [Abstract][Full Text] [Related]