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Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ; FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium; Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van … See abstract for full author list ➔ Johnson JO, et al. Among authors: petrelli c. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients.
Brugnoni R, Maggi L, Canioni E, Verde F, Gallone A, Ariatti A, Filosto M, Petrelli C, Logullo FO, Esposito M, Ruggiero L, Tonin P, Riguzzi P, Pegoraro E, Torri F, Ricci G, Siciliano G, Silani V, Merlini L, De Pasqua S, Liguori R, Pini A, Mariotti C, Moroni I, Imbrici P, Desaphy JF, Mantegazza R, Bernasconi P. Brugnoni R, et al. Among authors: petrelli c. Neuromuscul Disord. 2021 Apr;31(4):336-347. doi: 10.1016/j.nmd.2020.12.003. Epub 2020 Dec 14. Neuromuscul Disord. 2021. PMID: 33573884
Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations.
Cetica V, Chiari S, Mei D, Parrini E, Grisotto L, Marini C, Pucatti D, Ferrari A, Sicca F, Specchio N, Trivisano M, Battaglia D, Contaldo I, Zamponi N, Petrelli C, Granata T, Ragona F, Avanzini G, Guerrini R. Cetica V, et al. Among authors: petrelli c. Neurology. 2017 Mar 14;88(11):1037-1044. doi: 10.1212/WNL.0000000000003716. Epub 2017 Feb 15. Neurology. 2017. PMID: 28202706 Free PMC article.
Emergency room access for recurring seizures: when and why.
Balestrini S, Cagnetti C, Foschi N, Buratti L, Petrelli C, Luzzi S, Silvestrini M, Provinciali L. Balestrini S, et al. Among authors: petrelli c. Eur J Neurol. 2013 Oct;20(10):1411-6. doi: 10.1111/ene.12203. Epub 2013 Jun 7. Eur J Neurol. 2013. PMID: 23745953
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