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Year | Number of Results |
---|---|
2015 | 1 |
2016 | 2 |
2018 | 1 |
2021 | 3 |
2024 | 0 |
PubMed for id: 814744
7 results
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Page 1
Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA.
Cells. 2021 Nov 29;10(12):3354. doi: 10.3390/cells10123354.
Cells. 2021.
PMID: 34943861
Free PMC article.
A Rare Case of Perrault Syndrome with Auditory Neuropathy Spectrum Disorder: Cochlear Implantation Treatment and Literature Review.
Forli F, Bruschini L, Franciosi B, Battini R, Marinella G, Berrettini S, Lazzerini F.
Forli F, et al.
Audiol Res. 2021 Nov 13;11(4):609-617. doi: 10.3390/audiolres11040055.
Audiol Res. 2021.
PMID: 34842607
Free PMC article.
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Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse.
Maletzko A, Key J, Wittig I, Gispert S, Koepf G, Canet-Pons J, Torres-Odio S, West AP, Auburger G.
Maletzko A, et al.
Neurogenetics. 2021 Oct;22(4):297-312. doi: 10.1007/s10048-021-00657-2. Epub 2021 Aug 3.
Neurogenetics. 2021.
PMID: 34345994
Free PMC article.
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Perrault syndrome type 3 caused by diverse molecular defects in CLPP.
Brodie EJ, Zhan H, Saiyed T, Truscott KN, Dougan DA.
Brodie EJ, et al.
Sci Rep. 2018 Aug 27;8(1):12862. doi: 10.1038/s41598-018-30311-1.
Sci Rep. 2018.
PMID: 30150665
Free PMC article.
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Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.
Theunissen TE, Szklarczyk R, Gerards M, Hellebrekers DM, Mulder-Den Hartog EN, Vanoevelen J, Kamps R, de Koning B, Rutledge SL, Schmitt-Mechelke T, van Berkel CG, van der Knaap MS, de Coo IF, Smeets HJ.
Theunissen TE, et al.
Front Neurol. 2016 Nov 16;7:203. doi: 10.3389/fneur.2016.00203. eCollection 2016.
Front Neurol. 2016.
PMID: 27899912
Free PMC article.
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A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family.
Dursun F, Mohamoud HS, Karim N, Naeem M, Jelani M, Kırmızıbekmez H.
Dursun F, et al.
J Clin Res Pediatr Endocrinol. 2016 Dec 1;8(4):472-477. doi: 10.4274/jcrpe.2717. Epub 2016 Apr 18.
J Clin Res Pediatr Endocrinol. 2016.
PMID: 27087618
Free PMC article.
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Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3.
Ahmed S, Jelani M, Alrayes N, Mohamoud HS, Almramhi MM, Anshasi W, Ahmed NA, Wang J, Nasir J, Al-Aama JY.
Ahmed S, et al.
J Neurol Sci. 2015;353(1-2):149-54. doi: 10.1016/j.jns.2015.04.038. Epub 2015 May 1.
J Neurol Sci. 2015.
PMID: 25956234
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