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

Year Number of Results
1986 1
1987 3
1988 2
1989 3
1990 2
1991 3
1992 4
1993 5
1994 1
1995 4
1996 1
1997 10
1998 7
1999 5
2000 10
2001 12
2002 6
2003 6
2004 3
2005 6
2006 7
2007 5
2008 6
2009 7
2010 1
2011 7
2012 9
2013 5
2014 9
2015 7
2016 9
2017 13
2018 9
2019 7
2020 8
2021 9
2022 10
2023 7
2024 4

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211 results

Results by year

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Page 1
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Brugger M, Lauri A, Zhen Y, Gramegna LL, Zott B, Sekulić N, Fasano G, Kopajtich R, Cordeddu V, Radio FC, Mancini C, Pizzi S, Paradisi G, Zanni G, Vasco G, Carrozzo R, Palombo F, Tonon C, Lodi R, La Morgia C, Arelin M, Blechschmidt C, Finck T, Sørensen V, Kreiser K, Strobl-Wildemann G, Daum H, Michaelson-Cohen R, Ziccardi L, Zampino G, Prokisch H, Abou Jamra R, Fiorini C, Arzberger T, Winkelmann J, Caporali L, Carelli V, Stenmark H, Tartaglia M, Wagner M. Brugger M, et al. Among authors: carrozzo r. Am J Hum Genet. 2024 Mar 7;111(3):594-613. doi: 10.1016/j.ajhg.2024.02.005. Epub 2024 Feb 28. Am J Hum Genet. 2024. PMID: 38423010 Free PMC article.
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome.
Nardecchia F, Carrozzo R, Innocenti A, Torraco A, Zaccaria V, Rizza T, Pisani F, Bertini E, Leuzzi V. Nardecchia F, et al. Among authors: carrozzo r. Ann Clin Transl Neurol. 2024 Mar;11(3):819-825. doi: 10.1002/acn3.51980. Epub 2024 Feb 7. Ann Clin Transl Neurol. 2024. PMID: 38327089 Free PMC article.
Case report: A safeguard in the sea of variants of uncertain significance: a case study on child with high risk neuroblastoma and acute myeloid leukemia.
Fabozzi F, Carrozzo R, Lodi M, Di Giannatale A, Cipri S, Rosignoli C, Giovannoni I, Stracuzzi A, Rizza T, Montante C, Agolini E, Di Nottia M, Galaverna F, Del Baldo G, Del Bufalo F, Mastronuzzi A, De Ioris MA. Fabozzi F, et al. Among authors: carrozzo r. Front Oncol. 2024 Jan 8;13:1324013. doi: 10.3389/fonc.2023.1324013. eCollection 2023. Front Oncol. 2024. PMID: 38260858 Free PMC article.
GLUT-1 changes in paediatric Huntington disease brain cortex and fibroblasts: an observational case-control study.
Tramutola A, Bakels HS, Perrone F, Di Nottia M, Mazza T, Abruzzese MP, Zoccola M, Pagnotta S, Carrozzo R, de Bot ST, Perluigi M, van Roon-Mom WMC, Squitieri F. Tramutola A, et al. Among authors: carrozzo r. EBioMedicine. 2023 Nov;97:104849. doi: 10.1016/j.ebiom.2023.104849. Epub 2023 Oct 26. EBioMedicine. 2023. PMID: 37898095 Free PMC article.
Inflammatory profile in mitochondrial diseases: A cohort study.
Primiano G, Plantone D, Piro G, Carbone C, Sabino A, Sancricca C, Di Nottia M, Carrozzo R, Servidei S. Primiano G, et al. Among authors: carrozzo r. Eur J Neurol. 2023 Oct;30(10):3409-3410. doi: 10.1111/ene.15962. Epub 2023 Jul 16. Eur J Neurol. 2023. PMID: 37402160 No abstract available.
TERT Extra-Telomeric Roles: Antioxidant Activity and Mitochondrial Protection.
Marinaccio J, Micheli E, Udroiu I, Di Nottia M, Carrozzo R, Baranzini N, Grimaldi A, Leone S, Moreno S, Muzzi M, Sgura A. Marinaccio J, et al. Among authors: carrozzo r. Int J Mol Sci. 2023 Feb 23;24(5):4450. doi: 10.3390/ijms24054450. Int J Mol Sci. 2023. PMID: 36901881 Free PMC article.
AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.
Colucci F, Neri M, Fortunato F, Ferlini A, Carrozzo R, Torraco A, Lamantea E, Legati A, Tecilla G, Pugliatti M, Sensi M. Colucci F, et al. Among authors: carrozzo r. Cerebellum. 2023 Dec;22(6):1313-1319. doi: 10.1007/s12311-022-01497-y. Epub 2022 Nov 30. Cerebellum. 2023. PMID: 36447112
211 results