PMC Articles for MedGen (Select 375311) - PMC

Select item 91575811.

On Spinocerebellar Ataxia 21 as a Mimicker of Cerebral Palsy

Johanna van der Put, Dalia Daugeliene, Åsa Bergendal, Malin Kvarnung, Per Svenningsson, Martin Paucar

Neurol Genet. 2022 Jun; 8(3): e668. Published online 2022 May 31. doi: 10.1212/NXG.0000000000000668

PMCID:: PMC9157581

Select item 83619212.

A next generation sequencing‐based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21

Vittorio Riso, Daniele Galatolo, Melissa Barghigiani, Serena Galosi, Alessandra Tessa, Ivana Ricca, Salvatore Rossi, Caterina Caputi, Ettore Cioffi, Vincenzo Leuzzi, Carlo Casali, Filippo M. Santorelli, Gabriella Silvestri

Eur J Neurol. 2021 Aug; 28(8): 2784–2788. Published online 2021 May 27. doi: 10.1111/ene.14868

PMCID:: PMC8361921

Abstract Article PDF–301K

Select item 59091493.

Spinocerebellar Ataxia-21 in a Turkish Child

Faruk Incecik, Ozlem M. Herguner, Patrick Willems, Neslihan O. Mungan

Ann Indian Acad Neurol. 2018 Jan-Mar; 21(1): 68–70. doi: 10.4103/aian.AIAN_415_17

PMCID:: PMC5909149

Abstract Article PDF–348K

Select item 101056284.

Recurrent Acute Liver Failure in a Bahraini Child With a Novel Mutation of Spinocerebellar Ataxia-21

Hasan M Isa, Jawaher F Alkaabi, Wasan H Alhammadi, Khadija A Marjan

Cureus. 2023 Mar; 15(3): e36249. Published online 2023 Mar 16. doi: 10.7759/cureus.36249

PMCID:: PMC10105628

Abstract Article PDF–733K

Select item 76741855.

The Neurodevelopmental and Motor Phenotype of SCA21 (ATX-TMEM240)

Emma D. Burdekin, Brent L. Fogel, Shafali S. Jeste, Julian Martinez, Jessica E. Rexach, Charlotte DiStefano, Carly Hyde, Tabitha Safari, Rujuta B. Wilson

J Child Neurol. Author manuscript; available in PMC 2020 Dec 1.

Published in final edited form as: J Child Neurol. 2020 Dec; 35(14): 953–962. Published online 2020 Jul 24. doi: 10.1177/0883073820943488

PMCID:: PMC7674185

Abstract Article PDF–202K

Select item 47286036.

Spinocerebellar ataxia type 21 exists in the Chinese Han population

Sheng Zeng, Junsheng Zeng, Miao He, Xianfeng Zeng, Yao Zhou, Zhen Liu, Kun Xia, Qian Pan, Hong Jiang, Lu Shen, Xinxiang Yan, Beisha Tang, Junling Wang

Sci Rep. 2016; 6: 19897. Published online 2016 Jan 27. doi: 10.1038/srep19897

PMCID:: PMC4728603

Abstract Article PDF–595K

Select item 41630377.

Identification of the SCA21 disease gene: remaining challenges and promising opportunities

Jacqueline M. Ward, Albert R. La Spada

Brain. 2014 Oct; 137(10): 2626–2628. Published online 2014 Sep 11. doi: 10.1093/brain/awu217

PMCID:: PMC4163037

Abstract Article PDF–42K

Select item 47787178.

Design, Synthesis and Evaluation of Triazole-Pyrimidine Analogues as SecA Inhibitors

Jianmei Cui, Jinshan Jin, Arpana Sagwal Chaudhary, Ying-hsin Hsieh, Hao Zhang, Chaofeng Dai, Krishna Damera, Weixuan Chen, Phang C. Tai, Binghe Wang

ChemMedChem. Author manuscript; available in PMC 2017 Jan 5.

Published in final edited form as: ChemMedChem. 2016 Jan 5; 11(1): 43–56. Published online 2015 Nov 26. doi: 10.1002/cmdc.201500447

PMCID:: PMC4778717

Abstract Article PDF–1.2M

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