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Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.
Accogli A, Park YN, Lenk GM, Severino M, Scala M, Denecke J, Hempel M, Lessel D, Kortüm F, Salpietro V, de Marco P, Guerrisi S, Torella A, Nigro V, Srour M, Turro E, Labarque V, Freson K, Piatelli G, Capra V, Kitzman JO, Meisler MH. Accogli A, et al. Among authors: torella a. Genet Med. 2024 May;26(5):101097. doi: 10.1016/j.gim.2024.101097. Epub 2024 Feb 5. Genet Med. 2024. PMID: 38334070 Free article.
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.
Torella A, Fanin M, Mutarelli M, Peterle E, Del Vecchio Blanco F, Rispoli R, Savarese M, Garofalo A, Piluso G, Morandi L, Ricci G, Siciliano G, Angelini C, Nigro V. Torella A, et al. PLoS One. 2013 May 7;8(5):e63536. doi: 10.1371/journal.pone.0063536. Print 2013. PLoS One. 2013. PMID: 23667635 Free PMC article.
Incomplete penetrance in limb-girdle muscular dystrophy type 1F.
Fanin M, Peterle E, Fritegotto C, Nascimbeni AC, Tasca E, Torella A, Nigro V, Angelini C. Fanin M, et al. Among authors: torella a. Muscle Nerve. 2015 Aug;52(2):305-6. doi: 10.1002/mus.24539. Epub 2015 Jun 7. Muscle Nerve. 2015. PMID: 25487718 No abstract available.
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis.
Grandone A, Torella A, Santoro C, Giugliano T, Del Vecchio Blanco F, Mutarelli M, Cirillo M, Cirillo G, Piluso G, Capristo C, Festa A, Marzuillo P, Miraglia Del Giudice E, Perrone L, Nigro V. Grandone A, et al. Among authors: torella a. Clin Genet. 2016 Nov;90(5):445-450. doi: 10.1111/cge.12771. Epub 2016 Apr 29. Clin Genet. 2016. PMID: 26940245
GYG1 gene mutations in a family with polyglucosan body myopathy.
Fanin M, Torella A, Savarese M, Nigro V, Angelini C. Fanin M, et al. Among authors: torella a. Neurol Genet. 2015 Sep 24;1(3):e21. doi: 10.1212/NXG.0000000000000021. eCollection 2015 Oct. Neurol Genet. 2015. PMID: 27066558 Free PMC article.
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy.
Testa F, Filippelli M, Brunetti-Pierri R, Di Fruscio G, Di Iorio V, Pizzo M, Torella A, Barillari MR, Nigro V, Brunetti-Pierri N, Simonelli F, Banfi S. Testa F, et al. Among authors: torella a. Eur J Hum Genet. 2017 May;25(5):651-655. doi: 10.1038/ejhg.2017.23. Epub 2017 Mar 8. Eur J Hum Genet. 2017. PMID: 28272537 Free PMC article.
Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities.
Accogli A, Iacomino M, Pinto F, Orsini A, Vari MS, Selmi R, Torella A, Nigro V, Minetti C, Severino M, Striano P, Capra V, Zara F. Accogli A, et al. Among authors: torella a. Neurol Genet. 2017 Aug 9;3(5):e179. doi: 10.1212/NXG.0000000000000179. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28815207 Free PMC article. No abstract available.
144 results