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Page 1
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A. Cunha P, et al. Among authors: trabacca a. Am J Hum Genet. 2023 Jul 6;110(7):1098-1109. doi: 10.1016/j.ajhg.2023.05.009. Epub 2023 Jun 9. Am J Hum Genet. 2023. PMID: 37301203 Free PMC article.
Charcot-Marie-Tooth type 1a in a child with Long QT syndrome.
Losito L, De Rinaldis M, Gennaro L, Priori SG, Bloise R, Bassi MT, Bresolin N, Trabacca A. Losito L, et al. Among authors: trabacca a. Eur J Paediatr Neurol. 2009 Sep;13(5):459-62. doi: 10.1016/j.ejpn.2008.07.011. Epub 2008 Sep 16. Eur J Paediatr Neurol. 2009. PMID: 18799333
Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2.
Crimella C, Baschirotto C, Arnoldi A, Tonelli A, Tenderini E, Airoldi G, Martinuzzi A, Trabacca A, Losito L, Scarlato M, Benedetti S, Scarpini E, Spinicci G, Bresolin N, Bassi MT. Crimella C, et al. Among authors: trabacca a. Clin Genet. 2012 Aug;82(2):157-64. doi: 10.1111/j.1399-0004.2011.01717.x. Epub 2011 Jun 21. Clin Genet. 2012. PMID: 21623771
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.
Crippa F, Panzeri C, Martinuzzi A, Arnoldi A, Redaelli F, Tonelli A, Baschirotto C, Vazza G, Mostacciuolo ML, Daga A, Orso G, Profice P, Trabacca A, D'Angelo MG, Comi GP, Galbiati S, Lamperti C, Bonato S, Pandolfo M, Meola G, Musumeci O, Toscano A, Trevisan CP, Bresolin N, Bassi MT. Crippa F, et al. Among authors: trabacca a. Arch Neurol. 2006 May;63(5):750-5. doi: 10.1001/archneur.63.5.750. Arch Neurol. 2006. PMID: 16682546
Functioning and disability of children and adolescents in a vegetative state and a minimally conscious state: identification of ICF-CY-relevant categories.
Leonardi M, Sattin D, Giovannetti AM, Pagani M, Strazzer S, Villa F, Martinuzzi A, Buffoni M, Castelli E, Lispi ML, Trabacca A, Gennaro L, Raggi A. Leonardi M, et al. Among authors: trabacca a. Int J Rehabil Res. 2012 Dec;35(4):352-9. doi: 10.1097/MRR.0b013e328356425d. Int J Rehabil Res. 2012. PMID: 22785047
De Novo Pathogenic Variant in FBRSL1, Non OMIM Gene Paralogue AUTS2, Causes a Novel Recognizable Syndromic Manifestation with Intellectual Disability; An Additional Patient and Review of the Literature.
Bukvic N, De Rinaldis M, Chetta M, Trabacca A, Bassi MT, Marsano RM, Holoubkova L, Rivieccio M, Oro M, Resta N, Kerkhof J, Sadikovic B, Viggiano L. Bukvic N, et al. Among authors: trabacca a. Genes (Basel). 2024 Jun 22;15(7):826. doi: 10.3390/genes15070826. Genes (Basel). 2024. PMID: 39062605 Free PMC article. Review.
87 results