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Page 1
Antioxidant Amelioration of Riboflavin Transporter Deficiency in Motoneurons Derived from Patient-Specific Induced Pluripotent Stem Cells.
Marioli C, Magliocca V, Petrini S, Niceforo A, Borghi R, Petrillo S, La Rosa P, Colasuonno F, Persichini T, Piemonte F, Massey K, Tartaglia M, Moreno S, Bertini E, Compagnucci C. Marioli C, et al. Among authors: tartaglia m. Int J Mol Sci. 2020 Oct 7;21(19):7402. doi: 10.3390/ijms21197402. Int J Mol Sci. 2020. PMID: 33036493 Free PMC article.
Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs.
Di Giacopo R, Cianetti L, Caputo V, La Torraca I, Piemonte F, Ciolfi A, Petrucci S, Carta C, Mariotti P, Leuzzi V, Valente EM, D'Amico A, Bentivoglio A, Bertini E, Tartaglia M, Zampino G. Di Giacopo R, et al. Among authors: tartaglia m. J Neurol Sci. 2015 Sep 15;356(1-2):65-71. doi: 10.1016/j.jns.2015.05.021. Epub 2015 May 29. J Neurol Sci. 2015. PMID: 26143525
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: tartaglia m. Brain. 2016 Mar;139(Pt 3):782-94. doi: 10.1093/brain/awv392. Epub 2016 Jan 29. Brain. 2016. PMID: 26912632 Free article.
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.
Torraco A, Bianchi M, Verrigni D, Gelmetti V, Riley L, Niceta M, Martinelli D, Montanari A, Guo Y, Rizza T, Diodato D, Di Nottia M, Lucarelli B, Sorrentino F, Piemonte F, Francisci S, Tartaglia M, Valente EM, Dionisi-Vici C, Christodoulou J, Bertini E, Carrozzo R. Torraco A, et al. Among authors: tartaglia m. Clin Genet. 2017 Mar;91(3):441-447. doi: 10.1111/cge.12790. Epub 2016 May 25. Clin Genet. 2017. PMID: 27102574
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.
Sferra A, Baillat G, Rizza T, Barresi S, Flex E, Tasca G, D'Amico A, Bellacchio E, Ciolfi A, Caputo V, Cecchetti S, Torella A, Zanni G, Diodato D, Piermarini E, Niceta M, Coppola A, Tedeschi E, Martinelli D, Dionisi-Vici C, Nigro V, Dallapiccola B, Compagnucci C, Tartaglia M, Haase G, Bertini E. Sferra A, et al. Among authors: tartaglia m. Am J Hum Genet. 2016 Oct 6;99(4):974-983. doi: 10.1016/j.ajhg.2016.08.006. Epub 2016 Sep 22. Am J Hum Genet. 2016. PMID: 27666369 Free PMC article.
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
Flex E, Niceta M, Cecchetti S, Thiffault I, Au MG, Capuano A, Piermarini E, Ivanova AA, Francis JW, Chillemi G, Chandramouli B, Carpentieri G, Haaxma CA, Ciolfi A, Pizzi S, Douglas GV, Levine K, Sferra A, Dentici ML, Pfundt RR, Le Pichon JB, Farrow E, Baas F, Piemonte F, Dallapiccola B, Graham JM Jr, Saunders CJ, Bertini E, Kahn RA, Koolen DA, Tartaglia M. Flex E, et al. Among authors: tartaglia m. Am J Hum Genet. 2016 Oct 6;99(4):962-973. doi: 10.1016/j.ajhg.2016.08.003. Epub 2016 Sep 22. Am J Hum Genet. 2016. PMID: 27666370 Free PMC article.
Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders.
D'Amico A, Fattori F, Tasca G, Petrini S, Gualandi F, Bruselles A, D'Oria V, Verardo M, Carrozzo R, Niceta M, Udd B, Ferlini A, Tartaglia M, Bertini E. D'Amico A, et al. Among authors: tartaglia m. Eur J Paediatr Neurol. 2017 Nov;21(6):873-883. doi: 10.1016/j.ejpn.2017.07.009. Epub 2017 Jul 22. Eur J Paediatr Neurol. 2017. PMID: 28760337
The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.
Salpietro V, Zollo M, Vandrovcova J, Ryten M, Botia JA, Ferrucci V, Manole A, Efthymiou S, Al Mutairi F, Bertini E, Tartaglia M; SYNAPS Study Group; Houlden H. Salpietro V, et al. Among authors: tartaglia m. Brain. 2017 Aug 1;140(8):e49. doi: 10.1093/brain/awx155. Brain. 2017. PMID: 28899015 Free PMC article. No abstract available.
834 results