PubMed for id: 1778853

Year	Number of Results
1985	1
1986	1
1987	1
1991	1
1993	1
1996	3
1997	2
1999	2
2000	1
2001	1
2002	1
2003	2
2004	1
2006	1
2007	4
2009	2
2010	1
2011	1
2012	1
2013	4
2014	1
2015	2
2016	1
2017	1
2018	2
2019	5
2020	3
2021	3
2022	3
2023	1

1

[Genetic analysis of a child with Charlevoix-Saguenay spastic ataxia due to variant of SACS gene].

Luo H, Chen X, Rao X, Shen Y, Liu J, Yang Z, Gan J. Luo H, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 May 10;40(5):558-562. doi: 10.3760/cma.j.cn511374-20220724-00489. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37102289 Chinese.

2

Clinical and Molecular Spectrum of Degenerative Cerebellar Ataxia: A Single Centre Study.

Balakrishnan S, Aggarwal S, Muthulakshmi M, Meena AK, Borgohain R, Mridula KR, Yareeda S, Ranganath P, Dalal A. Balakrishnan S, et al. Neurol India. 2022 May-Jun;70(3):934-942. doi: 10.4103/0028-3886.349660. Neurol India. 2022. PMID: 35864621 Free article.

3

Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain.

Arias M, Mir P, Fernández-Matarrubia M, Arpa J, García-Ramos R, Blanco-Arias P, Quintans B, Sobrido MJ. Arias M, et al. Neurologia (Engl Ed). 2022 May;37(4):257-262. doi: 10.1016/j.nrleng.2019.01.014. Epub 2021 Apr 10. Neurologia (Engl Ed). 2022. PMID: 35595401 Free article.

4

Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48.

Magri S, Nanetti L, Gellera C, Sarto E, Rizzo E, Mongelli A, Ricci B, Fancellu R, Sambati L, Cortelli P, Brusco A, Bruzzone MG, Mariotti C, Di Bella D, Taroni F. Magri S, et al. Genet Med. 2022 Jan;24(1):29-40. doi: 10.1016/j.gim.2021.08.003. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906452 Free article.

5

Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16.

Pakdaman Y, Berland S, Bustad HJ, Erdal S, Thompson BA, James PA, Power KN, Ellingsen S, Krooni M, Berge LI, Sexton A, Bindoff LA, Knappskog PM, Johansson S, Aukrust I. Pakdaman Y, et al. Int J Mol Sci. 2021 May 30;22(11):5870. doi: 10.3390/ijms22115870. Int J Mol Sci. 2021. PMID: 34070858 Free PMC article.

6

Novel Genetic Variant of Ataxia Telangiectasia Presenting with Necrotising Pneumonia and Bronchopleural Fistulae at the Age of 4 Years.

Asmari WN, Alfadhil SA, Shakir MA, Albishri AS, Ibrahim MF, Muhammad WF. Asmari WN, et al. J Coll Physicians Surg Pak. 2020 Oct;30(10):1102-1104. doi: 10.29271/jcpsp.2020.10.1102. J Coll Physicians Surg Pak. 2020. PMID: 33143838

7

Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations.

Bryant D, Seda M, Peskett E, Maurer C, Pomeranz G, Ghosh M, Hawkins TA, Cleak J, Datta S, Hariri H, Eckert KM, Jafree DJ, Walsh C, Demetriou C, Ishida M, Alemán-Charlet C, Vestito L, Seselgyte R, McDonald JG, Bitner-Glindzicz M, Hemberger M, Rihel J, Teboul L, Henne WM, Jenkins D, Moore GE, Stanier P. Bryant D, et al. Sci Rep. 2020 Aug 13;10(1):13763. doi: 10.1038/s41598-020-70797-2. Sci Rep. 2020. PMID: 32792680 Free PMC article.

8

Novel homozygous ataxia‑telangiectasia (A‑T) mutated gene mutation identified in a Chinese pedigree with A‑T.

Chen W, Liu S, Hu H, Chen G, Zhu S, Jia B, Sheng W, Huang G. Chen W, et al. Mol Med Rep. 2019 Aug;20(2):1655-1662. doi: 10.3892/mmr.2019.10402. Epub 2019 Jun 20. Mol Med Rep. 2019. PMID: 31257506 Free PMC article.

9

Homozygosity mapping and whole exome sequencing reveal a novel ERCC8 mutation in a Chinese consanguineous family with unique cerebellar ataxia.

Zhang D, Dai L, Zhou Z, Hu J, Bai Y, Guo H. Zhang D, et al. Clin Chim Acta. 2019 Jul;494:64-70. doi: 10.1016/j.cca.2019.03.1609. Epub 2019 Mar 12. Clin Chim Acta. 2019. PMID: 30871974

10

ATM mutation spectrum in Russian children with ataxia-telangiectasia.

Suspitsin E, Sokolenko A, Bizin I, Tumakova A, Guseva M, Sokolova N, Vakhlyarskaya S, Kondratenko I, Imyanitov E. Suspitsin E, et al. Eur J Med Genet. 2020 Jan;63(1):103630. doi: 10.1016/j.ejmg.2019.02.003. Epub 2019 Feb 14. Eur J Med Genet. 2020. PMID: 30772474

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