PMC Articles for MedGen (Select 1800507) - PMC

Select item 101056281.

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

Select item 63367722.

Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation

Adi Shohet, Lior Cohen, Danielle Haguel, Yael Mozer, Noam Shomron, Shay Tzur, Lily Bazak, Lina Basel Salmon, Irit Krause

Eur J Hum Genet. 2019 Feb; 27(2): 263–268. Published online 2018 Sep 26. doi: 10.1038/s41431-018-0268-2

PMCID:: PMC6336772

Abstract Article PDF–688K

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 82462824.

Heterozygous deletion in exon 6 of STEX gene causing ataxia with oculomotor apraxia type 2 (AOA-2) with ovarian failure

Jiwan Shriram Kinkar, Patel Zeeshan Jameel, Banshi Lal Kumawat, Priyanka Kalbhor

BMJ Case Rep. 2021; 14(6): e241767. Published online 2021 Jun 30. doi: 10.1136/bcr-2021-241767

PMCID:: PMC8246282

Abstract Article PDF–644K

Select item 78909815.

A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report

Ashraf Yahia, Zhefan Stephen Chen, Ammar E. Ahmed, Sara Emad, Rawaa Adil, Rayan Abubaker, Shaimaa Omer M. A. Taha, Mustafa A. Salih, Liena Elsayed, Ho Yin Edwin Chan, Giovanni Stevanin

BMC Neurol. 2021; 21: 78. Published online 2021 Feb 18. doi: 10.1186/s12883-021-02113-y

PMCID:: PMC7890981

Abstract Article PDF–1.5M

Select item 61021316.

Structures of ubiquitin-like (Ubl) and Hsp90-like domains of sacsin provide insight into pathological mutations

Marie Ménade, Guennadi Kozlov, Jean-François Trempe, Harshit Pande, Solomon Shenker, Sihara Wickremasinghe, Xinlu Li, Hamed Hojjat, Marie-Josée Dicaire, Bernard Brais, Peter S. McPherson, Michael J. H. Wong, Jason C. Young, Kalle Gehring

J Biol Chem. 2018 Aug 17; 293(33): 12832–12842. Published online 2018 Jun 26. doi: 10.1074/jbc.RA118.003939

PMCID:: PMC6102131

Abstract Article PDF–1.5M

Select item 59899277.

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

Dominic Lenz, Patricia McClean, Aydan Kansu, Penelope E Bonnen, Giusy Ranucci, Christian Thiel, Beate K Straub, Inga Harting, Bader Alhaddad, Bianca Dimitrov, Urania Kotzaeridou, Daniel Wenning, Raffaele Iorio, Ryan W Himes, Zarife Kuloğlu, Emma L Blakely, Robert W Taylor, Thomas Meitinger, Stefan Kölker, Holger Prokisch, Georg F Hoffmann, Tobias B Haack, Christian Staufner

Genet Med. 2018; 20(10): 1255–1265. Published online 2018 Feb 8. doi: 10.1038/gim.2017.260

PMCID:: PMC5989927

Abstract Article PDF–4.4M

Select item 18012638.

Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia.

L P Ranum, J K Lundgren, L J Schut, M J Ahrens, S Perlman, J Aita, T D Bird, C Gomez, H T Orr

Am J Hum Genet. 1995 Sep; 57(3): 603–608.

PMCID:: PMC1801263

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