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Did you mean c barone[Author] (1,239 results)?
Towards a therapy for mitochondrial disease: an update.
Garone C, Viscomi C. Garone C, et al. Biochem Soc Trans. 2018 Oct 19;46(5):1247-1261. doi: 10.1042/BST20180134. Epub 2018 Oct 8. Biochem Soc Trans. 2018. PMID: 30301846 Free PMC article. Review.
Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations.
Barresi S, Dentici ML, Manzoni F, Bellacchio E, Agolini E, Pizzi S, Ciolfi A, Tarnopolsky M, Brady L, Garone G, Novelli A, Mei D, Guerrini R, Capuano A, Pantaleoni C, Tartaglia M. Barresi S, et al. Among authors: garone g. Pediatr Neurol. 2020 Mar;104:40-45. doi: 10.1016/j.pediatrneurol.2019.09.005. Epub 2019 Oct 19. Pediatr Neurol. 2020. PMID: 31836334
RESULTS: Two previously reported de novo disease-causing mutations in CACNA1G (c.2881G>A, p.Ala961Thr and c.4591A>G, p.Met1531Val) were identified in these patients, providing further evidence of the specific impact of these variants. ...
RESULTS: Two previously reported de novo disease-causing mutations in CACNA1G (c.2881G>A, p.Ala961Thr and c.4591A>G, p.M …
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.
Domínguez-González C, Madruga-Garrido M, Mavillard F, Garone C, Aguirre-Rodríguez FJ, Donati MA, Kleinsteuber K, Martí I, Martín-Hernández E, Morealejo-Aycinena JP, Munell F, Nascimento A, Kalko SG, Sardina MD, Álvarez Del Vayo C, Serrano O, Long Y, Tu Y, Levin B, Thompson JLP, Engelstad K, Uddin J, Torres-Torronteras J, Jimenez-Mallebrera C, Martí R, Paradas C, Hirano M. Domínguez-González C, et al. Among authors: garone c. Ann Neurol. 2019 Aug;86(2):293-303. doi: 10.1002/ana.25506. Epub 2019 Jun 17. Ann Neurol. 2019. PMID: 31125140 Free PMC article.
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.
OBJECTIVES: UBTF1 gene encodes for Upstream Binding Transcription Factor, an essential protein for RNA metabolism. A recurrent de novo variant (c.628G>A; p.Glu210Lys) has recently been associated with a childhood-onset neurodegenerative disorder characterized by motor a …
OBJECTIVES: UBTF1 gene encodes for Upstream Binding Transcription Factor, an essential protein for RNA metabolism. A recurrent de novo varia …
Small heat-shock protein HSPB3 promotes myogenesis by regulating the lamin B receptor.
Tiago T, Hummel B, Morelli FF, Basile V, Vinet J, Galli V, Mediani L, Antoniani F, Pomella S, Cassandri M, Garone MG, Silvestri B, Cimino M, Cenacchi G, Costa R, Mouly V, Poser I, Yeger-Lotem E, Rosa A, Alberti S, Rota R, Ben-Zvi A, Sawarkar R, Carra S. Tiago T, et al. Among authors: garone mg. Cell Death Dis. 2021 May 6;12(5):452. doi: 10.1038/s41419-021-03737-1. Cell Death Dis. 2021. PMID: 33958580 Free PMC article.
One of the critical events that regulates muscle cell differentiation is the replacement of the lamin B receptor (LBR)-tether with the lamin A/C (LMNA)-tether to remodel transcription and induce differentiation-specific genes. ...
One of the critical events that regulates muscle cell differentiation is the replacement of the lamin B receptor (LBR)-tether with the lamin …
Fhl1 W122S causes loss of protein function and late-onset mild myopathy.
Emmanuele V, Kubota A, Garcia-Diaz B, Garone C, Akman HO, Sánchez-Gutiérrez D, Escudero LM, Kariya S, Homma S, Tanji K, Quinzii CM, Hirano M. Emmanuele V, et al. Among authors: garone c. Hum Mol Genet. 2015 Feb 1;24(3):714-26. doi: 10.1093/hmg/ddu490. Epub 2014 Sep 30. Hum Mol Genet. 2015. PMID: 25274776 Free PMC article.
In 2008, we identified a missense mutation in the second LIM domain of FHL1 (c.365 G>C, p.W122S) in a family with SP myopathy. We generated a knock-in mouse model harboring the c.365 G>C Fhl1 mutation and investigated the effects of this mutation …
In 2008, we identified a missense mutation in the second LIM domain of FHL1 (c.365 G>C, p.W122S) in a family with SP myopat …
Severe early onset ethylmalonic encephalopathy with West syndrome.
Papetti L, Garone G, Schettini L, Giordano C, Nicita F, Papoff P, Zeviani M, Leuzzi V, Spalice A. Papetti L, et al. Among authors: garone g. Metab Brain Dis. 2015 Dec;30(6):1537-45. doi: 10.1007/s11011-015-9707-8. Epub 2015 Jul 21. Metab Brain Dis. 2015. PMID: 26194623
Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder characterized by early onset encephalopathy, chronic diarrhoea, petechiae, orthostatic acrocyanosis and defective cytochrome c oxidase (COX) in muscle and brain. High levels of lactic, ethylmalonic and …
Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder characterized by early onset encephalopathy, chronic diarrhoea, pete …
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.
Garone C, D'Souza AR, Dallabona C, Lodi T, Rebelo-Guiomar P, Rorbach J, Donati MA, Procopio E, Montomoli M, Guerrini R, Zeviani M, Calvo SE, Mootha VK, DiMauro S, Ferrero I, Minczuk M. Garone C, et al. Hum Mol Genet. 2017 Nov 1;26(21):4257-4266. doi: 10.1093/hmg/ddx314. Hum Mol Genet. 2017. PMID: 28973171 Free PMC article.
Targeted exome sequencing of genes encoding the mitochondrial proteome identified a damaging mutation, c.567 G > A, affecting a highly conserved amino acid residue (p.Gly189Arg) of the MRM2 protein. ...
Targeted exome sequencing of genes encoding the mitochondrial proteome identified a damaging mutation, c.567 G > A, affecting a hi …
27 results