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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.
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
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
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
Pediatric biobanking: a pilot qualitative survey of practices, rules, and researcher opinions in ten European countries.
Salvaterra E, Giorda R, Bassi MT, Borgatti R, Knudsen LE, Martinuzzi A, Nobile M, Pozzoli U, Ramelli GP, Reni GL, Rivolta D, Stazi MA, Strazzer S, Thijs C, Toccaceli V, Trabacca A, Turconi AC, Zanini S, Zucca C, Bresolin N, Lenzi On Behalf Of The Pediatric Biobank Elsi Working Group L. Salvaterra E, et al. Among authors: trabacca a. Biopreserv Biobank. 2012 Feb;10(1):29-36. doi: 10.1089/bio.2011.0037. Epub 2011 Dec 13. Biopreserv Biobank. 2012. PMID: 24849751
80 results