PMC Articles for MedGen (Select 373352) - PMC

Select item 103594901.

Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report

Olga Levchenko, Alexandra Filatova, Irina Mishina, Aleksey Antonenko, Mikhail Skoblov

Front Genet. 2023; 14: 1197681. Published online 2023 Jul 6. doi: 10.3389/fgene.2023.1197681

PMCID:: PMC10359490

Select item 75439902.

Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20

Nuno Maia, Gabriela Soares, Cecília Silva, Isabel Marques, Bárbara Rodrigues, Rosário Santos, Manuel Melo-Pires, Arjan PM de Brouwer, Teresa Temudo, Paula Jorge

Front Genet. 2020; 11: 1038. Published online 2020 Sep 24. doi: 10.3389/fgene.2020.01038

PMCID:: PMC7543990

Abstract Article PDF–1.2M

Select item 59613523.

SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20

Dale Bryant, Yang Liu, Sanchari Datta, Hanaa Hariri, Marian Seda, Glenn Anderson, Emma Peskett, Charalambos Demetriou, Sergio Sousa, Dagan Jenkins, Peter Clayton, Maria Bitner-Glindzicz, Gudrun E Moore, W Mike Henne, Philip Stanier

Hum Mol Genet. 2018 Jun 1; 27(11): 1927–1940. Published online 2018 Apr 9. doi: 10.1093/hmg/ddy101

PMCID:: PMC5961352

Abstract Article PDF–1.7M

Select item 52412224.

Autosomal Recessive Spinocerebellar Ataxia 20: Report of a New Patient and Review of Literature

Anju Shukla, Priyanka Upadhyai, Jhanvi Shah, Neethukrishna K, Stephanie Bielas, Girisha KM

Eur J Med Genet. Author manuscript; available in PMC 2018 Feb 1.

Published in final edited form as: Eur J Med Genet. 2017 Feb; 60(2): 118–123. Published online 2016 Nov 29. doi: 10.1016/j.ejmg.2016.11.006

PMCID:: PMC5241222

Abstract Article PDF–1.0M

Select item 25886415.

A duplication at chromosome 11q12.2–11q12.3 is associated with spinocerebellar ataxia type 20

Melanie A. Knight, Dena Hernandez, Scott J. Diede, Hans G. Dauwerse, Ian Rafferty, Joyce van de Leemput, Susan M. Forrest, R.J.McKinlay Gardner, Elsdon Storey, Gert-Jan B. van Ommen, Stephen J. Tapscott, Kenneth H. Fischbeck, Andrew B. Singleton

Hum Mol Genet. 2008 Dec 15; 17(24): 3847–3853. Published online 2008 Sep 18. doi: 10.1093/hmg/ddn283

PMCID:: PMC2588641

Abstract Article PDF–656K

Select item 37701786.

Extensive intracranial calcifications in a patient with a novel polymerase gamma-1 mutation

Christos Sidiropoulos, Elena Moro, Anthony E. Lang

Neurology. 2013 Jul 9; 81(2): 197–198. doi: 10.1212/WNL.0b013e31829a3438

PMCID:: PMC3770178

Abstract Article PDF–246K

Select item 83107717.

SNX14 deficiency-induced defective axonal mitochondrial transport in Purkinje cells underlies cerebellar ataxia and can be reversed by valproate

Hongfeng Zhang, Yujuan Hong, Weijie Yang, Ruimin Wang, Ting Yao, Jian Wang, Ke Liu, Huilong Yuan, Chaoqun Xu, Yuanyuan Zhou, Guanxian Li, Lishan Zhang, Hong Luo, Xian Zhang, Dan Du, Hao Sun, Qiuyang Zheng, Yun-Wu Zhang, Yingjun Zhao, Ying Zhou, Huaxi Xu, Xin Wang

Natl Sci Rev. 2021 Jul; 8(7): nwab024. Published online 2021 Feb 10. doi: 10.1093/nsr/nwab024

PMCID:: PMC8310771

Abstract Article PDF–7.2M

Select item 54901808.

Hypertrophic Olivary Degeneration and Palatal or Oculopalatal Tremor

Caroline Tilikete, Virginie Desestret

Front Neurol. 2017; 8: 302. Published online 2017 Jun 29. doi: 10.3389/fneur.2017.00302

PMCID:: PMC5490180

Abstract Article PDF–3.6M

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