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

Year Number of Results
1992 1
1993 1
1994 2
1998 1
2000 1
2001 1
2003 1
2004 2
2005 1
2006 3
2007 1
2008 3
2009 2
2010 1
2011 2
2012 1
2013 2
2014 7
2015 4
2016 6
2017 6
2018 2
2019 2
2020 1
2021 5
2022 8
2023 2
2024 1

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61 results

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Page 1
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Kaiyrzhanov R, Mohammed SEM, Maroofian R, Husain RA, Catania A, Torraco A, Alahmad A, Dutra-Clarke M, Grønborg S, Sudarsanam A, Vogt J, Arrigoni F, Baptista J, Haider S, Feichtinger RG, Bernardi P, Zulian A, Gusic M, Efthymiou S, Bai R, Bibi F, Horga A, Martinez-Agosto JA, Lam A, Manole A, Rodriguez DP, Durigon R, Pyle A, Albash B, Dionisi-Vici C, Murphy D, Martinelli D, Bugiardini E, Allis K, Lamperti C, Reipert S, Risom L, Laugwitz L, Di Nottia M, McFarland R, Vilarinho L, Hanna M, Prokisch H, Mayr JA, Bertini ES, Ghezzi D, Østergaard E, Wortmann SB, Carrozzo R, Haack TB, Taylor RW, Spinazzola A, Nowikovsky K, Houlden H. Kaiyrzhanov R, et al. Among authors: torraco a. Am J Hum Genet. 2022 Sep 1;109(9):1692-1712. doi: 10.1016/j.ajhg.2022.07.007. Am J Hum Genet. 2022. PMID: 36055214 Free PMC article.
Expanded phenotype of AARS1-related white matter disease.
Helman G, Mendes MI, Nicita F, Darbelli L, Sherbini O, Moore T, Derksen A, Amy Pizzino, Carrozzo R, Torraco A, Catteruccia M, Aiello C, Goffrini P, Figuccia S, Smith DEC, Hadzsiev K, Hahn A, Biskup S, Brösse I, Kotzaeridou U, Gauck D, Grebe TA, Elmslie F, Stals K, Gupta R, Bertini E, Thiffault I, Taft RJ, Schiffmann R, Brandl U, Haack TB, Salomons GS, Simons C, Bernard G, van der Knaap MS, Vanderver A, Husain RA. Helman G, et al. Among authors: torraco a. Genet Med. 2021 Dec;23(12):2352-2359. doi: 10.1038/s41436-021-01286-8. Epub 2021 Aug 27. Genet Med. 2021. PMID: 34446925 Free article.
Biallelic CLPB mutation associated with isolated neutropenia and 3-MGA-uria.
Rivalta B, Torraco A, Martinelli D, Luciani M, Carrozzo R, Finocchi A. Rivalta B, et al. Among authors: torraco a. Pediatr Allergy Immunol. 2022 May;33(5):e13782. doi: 10.1111/pai.13782. Pediatr Allergy Immunol. 2022. PMID: 35616898 Free PMC article. No abstract available.
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: torraco a. Cerebellum. 2023 Dec;22(6):1313-1319. doi: 10.1007/s12311-022-01497-y. Epub 2022 Nov 30. Cerebellum. 2023. PMID: 36447112
The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca2+-microdomains by tuning PMCA3 activity.
Vallese F, Maso L, Giamogante F, Poggio E, Barazzuol L, Salmaso A, Lopreiato R, Cendron L, Navazio L, Zanni G, Weber Y, Kovacevic-Preradovic T, Keren B, Torraco A, Carrozzo R, Peretto F, Peggion C, Ferro S, Marin O, Zanotti G, Calì T, Brini M, Carafoli E. Vallese F, et al. Among authors: torraco a. Cell Death Dis. 2022 Oct 7;13(10):855. doi: 10.1038/s41419-022-05300-y. Cell Death Dis. 2022. PMID: 36207321 Free PMC article.
61 results