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Year Number of Results
2013 1
2014 2
2015 4
2016 4
2017 4
2018 4
2019 2
2020 1
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2023 1
2024 0

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Page 1
Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol.
Tiziano FD, Lomastro R, Abiusi E, Pasanisi MB, Di Pietro L, Fiori S, Baranello G, Angelini C, Sorarù G, Gaiani A, Mongini T, Vercelli L, Mercuri E, Vasco G, Pane M, Vita G, Vita G, Messina S, Petillo R, Passamano L, Politano L, Campanella A, Mantegazza R, Morandi L. Tiziano FD, et al. Among authors: petillo r. J Med Genet. 2019 May;56(5):293-300. doi: 10.1136/jmedgenet-2018-105482. Epub 2018 Dec 28. J Med Genet. 2019. PMID: 30593463 Clinical Trial.
Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD.
Cascella R, Strafella C, Caputo V, Galota RM, Errichiello V, Scutifero M, Petillo R, Marella GL, Arcangeli M, Colantoni L, Zampatti S, Ricci E, Deidda G, Politano L, Giardina E. Cascella R, et al. Among authors: petillo r. Front Neurol. 2018 Nov 28;9:1027. doi: 10.3389/fneur.2018.01027. eCollection 2018. Front Neurol. 2018. PMID: 30546343 Free PMC article.
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel.
Altamura C, Lucchiari S, Sahbani D, Ulzi G, Comi GP, D'Ambrosio P, Petillo R, Politano L, Vercelli L, Mongini T, Dotti MT, Cardani R, Meola G, Lo Monaco M, Matthews E, Hanna MG, Carratù MR, Conte D, Imbrici P, Desaphy JF. Altamura C, et al. Among authors: petillo r. Hum Mutat. 2018 Sep;39(9):1273-1283. doi: 10.1002/humu.23581. Epub 2018 Jul 4. Hum Mutat. 2018. PMID: 29935101 Free article.
Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data.
Pane M, Coratti G, Brogna C, Mazzone ES, Mayhew A, Fanelli L, Messina S, D'Amico A, Catteruccia M, Scutifero M, Frosini S, Lanzillotta V, Colia G, Cavallaro F, Rolle E, De Sanctis R, Forcina N, Petillo R, Barp A, Gardani A, Pini A, Monaco G, D'Angelo MG, Zanin R, Vita GL, Bruno C, Mongini T, Ricci F, Pegoraro E, Bello L, Berardinelli A, Battini R, Sansone V, Albamonte E, Baranello G, Bertini E, Politano L, Sormani MP, Mercuri E. Pane M, et al. Among authors: petillo r. PLoS One. 2018 Jun 20;13(6):e0199223. doi: 10.1371/journal.pone.0199223. eCollection 2018. PLoS One. 2018. PMID: 29924848 Free PMC article.
24 results