Similar articles for PMID: 27081508

Year	Number of Results
2001	1
2005	2
2006	3
2007	2
2009	2
2010	2
2011	3
2012	2
2013	2
2014	8
2015	3
2016	5
2017	6
2018	7
2019	4
2020	5
2021	5
2022	1
2023	1
2024	0

1

Emerging evidence of coding mutations in the ubiquitin-proteasome system associated with cerebellar ataxias.

Ronnebaum SM, Patterson C, Schisler JC. Ronnebaum SM, et al. Hum Genome Var. 2014 Oct 23;1:14018. doi: 10.1038/hgv.2014.18. eCollection 2014. Hum Genome Var. 2014. PMID: 27081508 Free PMC article. Review.

2

STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.

Heimdal K, Sanchez-Guixé M, Aukrust I, Bollerslev J, Bruland O, Jablonski GE, Erichsen AK, Gude E, Koht JA, Erdal S, Fiskerstrand T, Haukanes BI, Boman H, Bjørkhaug L, Tallaksen CM, Knappskog PM, Johansson S. Heimdal K, et al. Orphanet J Rare Dis. 2014 Sep 26;9:146. doi: 10.1186/s13023-014-0146-0. Orphanet J Rare Dis. 2014. PMID: 25258038 Free PMC article.

3

Clinical and Genetic Characterization of Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16) in Taiwan.

Chiu HH, Hsaio CT, Tsai YS, Liao YC, Lee YC, Soong BW. Chiu HH, et al. Cerebellum. 2020 Aug;19(4):544-549. doi: 10.1007/s12311-020-01136-4. Cerebellum. 2020. PMID: 32367277

4

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations.

Hayer SN, Deconinck T, Bender B, Smets K, Züchner S, Reich S, Schöls L, Schüle R, De Jonghe P, Baets J, Synofzik M. Hayer SN, et al. Orphanet J Rare Dis. 2017 Feb 13;12(1):31. doi: 10.1186/s13023-017-0580-x. Orphanet J Rare Dis. 2017. PMID: 28193273 Free PMC article.

5

Clinical and functional characterization of a novel STUB1 frameshift mutation in autosomal dominant spinocerebellar ataxia type 48 (SCA48).

Chen HY, Hsu CL, Lin HY, Lin YF, Tsai SF, Ho YJ, Li YR, Tsai JW, Teng SC, Lin CH. Chen HY, et al. J Biomed Sci. 2021 Sep 26;28(1):65. doi: 10.1186/s12929-021-00763-1. J Biomed Sci. 2021. PMID: 34565360 Free PMC article.

6

C-terminus of Hsp70 Interacting Protein (CHIP) and Neurodegeneration: Lessons from the Bench and Bedside.

Mylvaganam S, Earnshaw R, Heymann G, Kalia SK, Kalia LV. Mylvaganam S, et al. Curr Neuropharmacol. 2021;19(7):1038-1068. doi: 10.2174/1570159X18666201116145507. Curr Neuropharmacol. 2021. PMID: 33200713 Free PMC article. Review.

7

Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP.

Shi CH, Schisler JC, Rubel CE, Tan S, Song B, McDonough H, Xu L, Portbury AL, Mao CY, True C, Wang RH, Wang QZ, Sun SL, Seminara SB, Patterson C, Xu YM. Shi CH, et al. Hum Mol Genet. 2014 Feb 15;23(4):1013-24. doi: 10.1093/hmg/ddt497. Epub 2013 Oct 9. Hum Mol Genet. 2014. PMID: 24113144 Free PMC article.

8

The molecular basis of spinocerebellar ataxia type 48 caused by a de novo mutation in the ubiquitin ligase CHIP.

Umano A, Fang K, Qu Z, Scaglione JB, Altinok S, Treadway CJ, Wick ET, Paulakonis E, Karunanayake C, Chou S, Bardakjian TM, Gonzalez-Alegre P, Page RC, Schisler JC, Brown NG, Yan D, Scaglione KM. Umano A, et al. J Biol Chem. 2022 May;298(5):101899. doi: 10.1016/j.jbc.2022.101899. Epub 2022 Apr 7. J Biol Chem. 2022. PMID: 35398354 Free PMC article.

9

Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts.

Synofzik M, Schüle R, Schulze M, Gburek-Augustat J, Schweizer R, Schirmacher A, Krägeloh-Mann I, Gonzalez M, Young P, Züchner S, Schöls L, Bauer P. Synofzik M, et al. Orphanet J Rare Dis. 2014 Apr 17;9:57. doi: 10.1186/1750-1172-9-57. Orphanet J Rare Dis. 2014. PMID: 24742043 Free PMC article.

10

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.

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