24719489 28193272 28193273 28444220 29915382 32367277 33417001 34663476 28396517 29317501[uid] - Search Results

Year	Number of Results
2014	1
2017	4
2018	2
2019	1
2020	1
2021	2
2024	0

1

Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations.

Depondt C, Donatello S, Simonis N, Rai M, van Heurck R, Abramowicz M, D'Hooghe M, Pandolfo M. Depondt C, et al. Neurology. 2014 May 13;82(19):1749-50. doi: 10.1212/WNL.0000000000000416. Epub 2014 Apr 9. Neurology. 2014. PMID: 24719489

2

Optimization of laccase production from Marasmiellus palmivorus LA1 by Taguchi method of Design of experiments.

Chenthamarakshan A, Parambayil N, Miziriya N, Soumya PS, Lakshmi MS, Ramgopal A, Dileep A, Nambisan P. Chenthamarakshan A, et al. BMC Biotechnol. 2017 Feb 13;17(1):12. doi: 10.1186/s12896-017-0333-x. BMC Biotechnol. 2017. PMID: 28193272 Free PMC article.

3

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.

4

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.

Coutelier M, Coarelli G, Monin ML, Konop J, Davoine CS, Tesson C, Valter R, Anheim M, Behin A, Castelnovo G, Charles P, David A, Ewenczyk C, Fradin M, Goizet C, Hannequin D, Labauge P, Riant F, Sarda P, Sznajer Y, Tison F, Ullmann U, Van Maldergem L, Mochel F, Brice A, Stevanin G, Durr A; SPATAX network. Coutelier M, et al. Brain. 2017 Jun 1;140(6):1579-1594. doi: 10.1093/brain/awx081. Brain. 2017. PMID: 28444220

5

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.

Sun M, Johnson AK, Nelakuditi V, Guidugli L, Fischer D, Arndt K, Ma L, Sandford E, Shakkottai V, Boycott K, Warman-Chardon J, Li Z, Del Gaudio D, Burmeister M, Gomez CM, Waggoner DJ, Das S. Sun M, et al. Genet Med. 2019 Jan;21(1):195-206. doi: 10.1038/s41436-018-0007-7. Epub 2018 Jun 18. Genet Med. 2019. PMID: 29915382 Free PMC article.

6

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

7

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

8

Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias.

Cheng HL, Shao YR, Dong Y, Dong HL, Yang L, Ma Y, Shen Y, Wu ZY. Cheng HL, et al. Transl Neurodegener. 2021 Oct 18;10(1):40. doi: 10.1186/s40035-021-00264-z. Transl Neurodegener. 2021. PMID: 34663476 Free PMC article.

9

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.

10

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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