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Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders.
Nicita F, Ginevrino M, Travaglini L, D'Arrigo S, Zorzi G, Borgatti R, Terrone G, Catteruccia M, Vasco G, Brankovic V, Siliquini S, Romano S, Veredice C, Pedemonte M, Armando M, Lettori D, Stregapede F, Bosco L, Sferra A, Tessarollo V, Romaniello R, Ristori G, Bertini E, Valente EM, Zanni G. Nicita F, et al. Among authors: catteruccia m. J Med Genet. 2021 Jul;58(7):475-483. doi: 10.1136/jmedgenet-2020-107007. Epub 2020 Jul 31. J Med Genet. 2021. PMID: 32737135
Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study.
Ciccolella M, Catteruccia M, Benedetti S, Moroni I, Uziel G, Pantaleoni C, Chiapparini L, Bizzi A, D'Amico A, Fattori F, Salsano ML, Pastore A, Tozzi G, Piemonte F, Bertini E. Ciccolella M, et al. Among authors: catteruccia m. Neuromuscul Disord. 2012 Dec;22(12):1075-82. doi: 10.1016/j.nmd.2012.05.007. Epub 2012 Jul 21. Neuromuscul Disord. 2012. PMID: 22824638
EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome.
Martinelli D, Catteruccia M, Piemonte F, Pastore A, Tozzi G, Dionisi-Vici C, Pontrelli G, Corsetti T, Livadiotti S, Kheifets V, Hinman A, Shrader WD, Thoolen M, Klein MB, Bertini E, Miller G. Martinelli D, et al. Among authors: catteruccia m. Mol Genet Metab. 2012 Nov;107(3):383-8. doi: 10.1016/j.ymgme.2012.09.007. Epub 2012 Sep 10. Mol Genet Metab. 2012. PMID: 23010433 Clinical Trial.
Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort.
Catteruccia M, Fattori F, Codemo V, Ruggiero L, Maggi L, Tasca G, Fiorillo C, Pane M, Berardinelli A, Verardo M, Bragato C, Mora M, Morandi L, Bruno C, Santoro L, Pegoraro E, Mercuri E, Bertini E, D'Amico A. Catteruccia M, et al. Neuromuscul Disord. 2013 Mar;23(3):229-38. doi: 10.1016/j.nmd.2012.12.009. Epub 2013 Feb 8. Neuromuscul Disord. 2013. PMID: 23394783 Free PMC article.
Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy.
Pane M, Mazzone ES, Fanelli L, De Sanctis R, Bianco F, Sivo S, D'Amico A, Messina S, Battini R, Scutifero M, Petillo R, Frosini S, Scalise R, Vita G, Bruno C, Pedemonte M, Mongini T, Pegoraro E, Brustia F, Gardani A, Berardinelli A, Lanzillotta V, Viggiano E, Cavallaro F, Sframeli M, Bello L, Barp A, Bonfiglio S, Rolle E, Colia G, Catteruccia M, Palermo C, D'Angelo G, Pini A, Iotti E, Gorni K, Baranello G, Morandi L, Bertini E, Politano L, Sormani M, Mercuri E. Pane M, et al. Among authors: catteruccia m. Neuromuscul Disord. 2014 Mar;24(3):201-6. doi: 10.1016/j.nmd.2013.11.014. Epub 2013 Dec 5. Neuromuscul Disord. 2014. PMID: 24440357 Free article.
Myoclonus in mitochondrial disorders.
Mancuso M, Orsucci D, Angelini C, Bertini E, Catteruccia M, Pegoraro E, Carelli V, Valentino ML, Comi GP, Minetti C, Bruno C, Moggio M, Ienco EC, Mongini T, Vercelli L, Primiano G, Servidei S, Tonin P, Scarpelli M, Toscano A, Musumeci O, Moroni I, Uziel G, Santorelli FM, Nesti C, Filosto M, Lamperti C, Zeviani M, Siciliano G. Mancuso M, et al. Among authors: catteruccia m. Mov Disord. 2014 May;29(6):722-8. doi: 10.1002/mds.25839. Epub 2014 Feb 7. Mov Disord. 2014. PMID: 24510442
58 results