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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Autosomal Recessive Spinocerebellar Ataxia 9[original query]
Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations.
Journal of neurology 2016 May .
Wiethoff Sarah, Hersheson Joshua, Bettencourt Conceicao, Wood Nicholas W, Houlden Hen
Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia.
Movement disorders : official journal of the Movement Disorder Society 2022 4 37 (6): 1309-1316.
da Costa Sophia Caldas Gonzaga, de Rezende-Filho Flávio C, de Freitas Júlian Leticia, de Assis Pereira Matos Paula Camila Alves, Della-Ripa Bruno, França Marcondes Cavalcante, Marques Wilson, Santos Mariana, Cronemberger Igor Vasconcelos Barros, Vale Thiago Cardoso, Kok Fernando, Alonso Isabel, Pedroso José Luiz, Barsottini Orlando G
A Novel SETX Mutation in a Taiwanese Patient with Autosomal Recessive Cerebellar Ataxia Detected by Targeted Next-Generation Sequencing, and a Literature Review.
Brain sciences 2022 2 12 (2): .
Chiang Ping-I, Liao Ting-Wei, Chen Chiung-M
[Rare forms of autosomal recessive spinocerebellar ataxia associated with mutations in the ANO10 (ATX-ANO10) and SYNE1 (ATX-SYNE1) genes].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2024 9 124 (8): 32-38.
E P Nuzhnyi, A O Protopopova, N Yu Abramycheva, A R Protsenko, S N Illarioshk
Report of a novel missense TDP1 variant in a Pakistani family affected with an extremely rare disorder congenital spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1).
Molecular biology reports 2024 11 52 (1): 7.
Riaz Ahmad, Filza Sayyad, Muhammad Naeem, Henry Hould
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