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Table representation of search results timeline featuring number of search results per year.

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

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47 results

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Page 1
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction.
Pettenuzzo I, Carli S, Sánchez-Cuesta A, Isidori F, Montanari F, Grippa M, Lanzoni G, Ambrosetti I, Di Pisa V, Cordelli DM, Mondardini MC, Pippucci T, Ragni L, Cenacchi G, Costa R, Lima M, Capristo MA, Tropeano CV, Caporali L, Carelli V, Brunelli E, Maffei M, Ahmed Sheikhmaye H, Fetta A, Brea-Calvo G, Garone C. Pettenuzzo I, et al. Among authors: garone c. Eur J Hum Genet. 2024 May 3. doi: 10.1038/s41431-024-01615-w. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38702428
Expanding the Clinical Spectrum of UBTF-Related Neurodevelopmental Disorder.
Pietra A, Palombo F, Giannotta M, Maffei M, Fiorini C, Costa R, Cenacchi G, Carelli V, Cordelli DM, Pini A, Garone C. Pietra A, et al. Among authors: garone c. Neurol Genet. 2023 Nov 14;9(6):e200098. doi: 10.1212/NXG.0000000000200098. eCollection 2023 Dec. Neurol Genet. 2023. PMID: 38235043 Free PMC article.
A late-stage assembly checkpoint of the human mitochondrial ribosome large subunit.
Rebelo-Guiomar P, Pellegrino S, Dent KC, Sas-Chen A, Miller-Fleming L, Garone C, Van Haute L, Rogan JF, Dinan A, Firth AE, Andrews B, Whitworth AJ, Schwartz S, Warren AJ, Minczuk M. Rebelo-Guiomar P, et al. Among authors: garone c. Nat Commun. 2022 Feb 17;13(1):929. doi: 10.1038/s41467-022-28503-5. Nat Commun. 2022. PMID: 35177605 Free PMC article.
Evidence of enteric angiopathy and neuromuscular hypoxia in patients with mitochondrial neurogastrointestinal encephalomyopathy.
Boschetti E, D'Angelo R, Tardio ML, Costa R, Giordano C, Accarino A, Malagelada C, Clavenzani P, Tugnoli V, Caio G, Righi V, Garone C, D'Errico A, Cenacchi G, Dotti MT, Stanghellini V, Sternini C, Pironi L, Rinaldi R, Carelli V, De Giorgio R. Boschetti E, et al. Among authors: garone c. Am J Physiol Gastrointest Liver Physiol. 2021 May 1;320(5):G768-G779. doi: 10.1152/ajpgi.00047.2021. Epub 2021 Mar 3. Am J Physiol Gastrointest Liver Physiol. 2021. PMID: 33655764 Free PMC article.
NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs.
Van Haute L, Lee SY, McCann BJ, Powell CA, Bansal D, Vasiliauskaitė L, Garone C, Shin S, Kim JS, Frye M, Gleeson JG, Miska EA, Rhee HW, Minczuk M. Van Haute L, et al. Among authors: garone c. Nucleic Acids Res. 2019 Sep 19;47(16):8720-8733. doi: 10.1093/nar/gkz559. Nucleic Acids Res. 2019. PMID: 31276587 Free PMC article.
47 results