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

Year Number of Results
2011 1
2012 1
2013 2
2014 5
2015 5
2016 7
2017 6
2018 4
2019 2
2020 2
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29 results
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Page 1
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.
Verrigni D, Di Nottia M, Ardissone A, Baruffini E, Nasca A, Legati A, Bellacchio E, Fagiolari G, Martinelli D, Fusco L, Battaglia D, Trani G, Versienti G, Marchet S, Torraco A, Rizza T, Verardo M, D'Amico A, Diodato D, Moroni I, Lamperti C, Petrini S, Moggio M, Goffrini P, Ghezzi D, Carrozzo R, Bertini E. Verrigni D, et al. Hum Mutat. 2019 May;40(5):601-618. doi: 10.1002/humu.23729. Epub 2019 Mar 9. Hum Mutat. 2019. PMID: 30801875
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins.
Torraco A, Stehling O, Stümpfig C, Rösser R, De Rasmo D, Fiermonte G, Verrigni D, Rizza T, Vozza A, Di Nottia M, Diodato D, Martinelli D, Piemonte F, Dionisi-Vici C, Bertini E, Lill R, Carrozzo R. Torraco A, et al. Among authors: Verrigni D. Hum Mol Genet. 2018 Oct 15;27(20):3650. doi: 10.1093/hmg/ddy273. Hum Mol Genet. 2018. PMID: 30113620 No abstract available.
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.
Catania A, Ardissone A, Verrigni D, Legati A, Reyes A, Lamantea E, Diodato D, Tonduti D, Imperatore V, Pinto AM, Moroni I, Bertini E, Robinson A, Carrozzo R, Zeviani M, Ghezzi D. Catania A, et al. Among authors: Verrigni D. J Hum Genet. 2018 May;63(5):563-568. doi: 10.1038/s10038-018-0423-1. Epub 2018 Mar 12. J Hum Genet. 2018. PMID: 29531337 Free PMC article.
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.
Rokicki D, Pajdowska M, Trubicka J, Thong MK, Ciara E, Piekutowska-Abramczuk D, Pronicki M, Sikora R, Haidar R, Ołtarzewski M, Jabłońska E, Muthukumarasamy P, Sthaneswar P, Gan CS, Krajewska-Walasek M, Carrozzo R, Verrigni D, Semeraro M, Rizzo C, Taurisano R, Alhaddad B, Kovacs-Nagy R, Haack TB, Dionisi-Vici C, Pronicka E, Wortmann SB. Rokicki D, et al. Among authors: Verrigni D. Clin Chim Acta. 2017 Aug;471:95-100. doi: 10.1016/j.cca.2017.05.023. Epub 2017 May 17. Clin Chim Acta. 2017. PMID: 28526534
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins.
Torraco A, Stehling O, Stümpfig C, Rösser R, De Rasmo D, Fiermonte G, Verrigni D, Rizza T, Vozza A, Di Nottia M, Diodato D, Martinelli D, Piemonte F, Dionisi-Vici C, Bertini E, Lill R, Carrozzo R. Torraco A, et al. Among authors: Verrigni D. Hum Mol Genet. 2018 Aug 1;27(15):2739-2754. doi: 10.1093/hmg/ddy183. Hum Mol Genet. 2018. PMID: 29767723
Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.
Castiglioni C, Verrigni D, Okuma C, Diaz A, Alvarez K, Rizza T, Carrozzo R, Bertini E, Miranda M. Castiglioni C, et al. Among authors: Verrigni D. Eur J Paediatr Neurol. 2015 Sep;19(5):497-503. doi: 10.1016/j.ejpn.2015.04.008. Epub 2015 May 14. Eur J Paediatr Neurol. 2015. PMID: 26008863 Review.
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E. Carrozzo R, et al. Among authors: Verrigni D. J Inherit Metab Dis. 2016 Mar;39(2):243-52. doi: 10.1007/s10545-015-9894-9. Epub 2015 Oct 16. J Inherit Metab Dis. 2016. PMID: 26475597
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
Dallabona C, Abbink TE, Carrozzo R, Torraco A, Legati A, van Berkel CG, Niceta M, Langella T, Verrigni D, Rizza T, Diodato D, Piemonte F, Lamantea E, Fang M, Zhang J, Martinelli D, Bevivino E, Dionisi-Vici C, Vanderver A, Philip SG, Kurian MA, Verma IC, Bijarnia-Mahay S, Jacinto S, Furtado F, Accorsi P, Ardissone A, Moroni I, Ferrero I, Tartaglia M, Goffrini P, Ghezzi D, van der Knaap MS, Bertini E. Dallabona C, et al. Among authors: Verrigni D. Brain. 2016 Mar;139(Pt 3):782-94. doi: 10.1093/brain/awv392. Epub 2016 Jan 29. Brain. 2016. PMID: 26912632
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, Carrozzo R, Kremer L, Dusi S, Fauth C, Scholl-Bürgi S, Graf E, Ahting U, Resta N, Laforgia N, Verrigni D, Okazaki Y, Kohda M, Martinelli D, Freisinger P, Strom TM, Meitinger T, Lamperti C, Lacson A, Navas P, Mayr JA, Bertini E, Murayama K, Zeviani M, Prokisch H, Ghezzi D. Brea-Calvo G, et al. Among authors: Verrigni D. Am J Hum Genet. 2015 Feb 5;96(2):309-17. doi: 10.1016/j.ajhg.2014.12.023. Am J Hum Genet. 2015. PMID: 25658047 Free PMC article.
Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants.
Castiglioni C, Fattori F, Udd B, de Los Angeles Avaria M, Suarez B, D'Amico A, Malandrini A, Carrozzo R, Verrigni D, Bertini E, Tasca G. Castiglioni C, et al. Among authors: Verrigni D. Eur J Hum Genet. 2018 Mar;26(3):367-373. doi: 10.1038/s41431-017-0003-4. Epub 2018 Jan 22. Eur J Hum Genet. 2018. PMID: 29358615 Free PMC article.
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