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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2014 | 1 |
2017 | 2 |
2018 | 1 |
2020 | 2 |
2021 | 1 |
2024 | 0 |
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Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations.
Neurology. 2014 May 13;82(19):1749-50. doi: 10.1212/WNL.0000000000000416. Epub 2014 Apr 9.
Neurology. 2014.
PMID: 24719489
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.
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In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins.
Pakdaman Y, Sanchez-Guixé M, Kleppe R, Erdal S, Bustad HJ, Bjørkhaug L, Haugarvoll K, Tzoulis C, Heimdal K, Knappskog PM, Johansson S, Aukrust I.
Pakdaman Y, et al.
Biosci Rep. 2017 Apr 28;37(2):BSR20170251. doi: 10.1042/BSR20170251. Print 2017 Apr 30.
Biosci Rep. 2017.
PMID: 28396517
Free PMC article.
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Most mutations that cause spinocerebellar ataxia autosomal recessive type 16 (SCAR16) destabilize the protein quality-control E3 ligase CHIP.
Kanack AJ, Newsom OJ, Scaglione KM.
Kanack AJ, et al.
J Biol Chem. 2018 Feb 23;293(8):2735-2743. doi: 10.1074/jbc.RA117.000477. Epub 2018 Jan 9.
J Biol Chem. 2018.
PMID: 29317501
Free PMC article.
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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
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CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons.
Schuster S, Heuten E, Velic A, Admard J, Synofzik M, Ossowski S, Macek B, Hauser S, Schöls L.
Schuster S, et al.
Dis Model Mech. 2020 Oct 12;13(10):dmm045096. doi: 10.1242/dmm.045096.
Dis Model Mech. 2020.
PMID: 33097556
Free PMC article.
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Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.
Ravel JM, Benkirane M, Calmels N, Marelli C, Ory-Magne F, Ewenczyk C, Halleb Y, Tison F, Lecocq C, Pische G, Casenave P, Chaussenot A, Frismand S, Tyvaert L, Larrieu L, Pointaux M, Drouot N, Bossenmeyer-Pourié C, Oussalah A, Guéant JL, Leheup B, Bonnet C, Anheim M, Tranchant C, Lambert L, Chelly J, Koenig M, Renaud M.
Ravel JM, et al.
J Neurol. 2021 May;268(5):1927-1937. doi: 10.1007/s00415-020-10348-x. Epub 2021 Jan 8.
J Neurol. 2021.
PMID: 33417001
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