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De novo mutations in ATP1A3 cause alternating hemiplegia of childhood EL Heinzen, KJ Swoboda, Y Hitomi, F Gurrieri, S Nicole, B de Vries, ... Nature genetics 44 (9), 1030-1034, 2012 | 426 | 2012 |
Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy C Andreassi, C Angelozzi, FD Tiziano, T Vitali, E De Vincenzi, ... European journal of human genetics 12 (1), 59-65, 2004 | 342 | 2004 |
Deletion of Murine SMN Exon 7 Directed to Skeletal Muscle Leads to Severe Muscular Dystrophy C Cifuentes-Diaz, T Frugier, FD Tiziano, E Lacène, N Roblot, V Joshi, ... The Journal of cell biology 152 (5), 1107-1114, 2001 | 305 | 2001 |
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Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy T Frugier, FD Tiziano, C Cifuentes-Diaz, P Miniou, N Roblot, A Dierich, ... Human molecular genetics 9 (5), 849-858, 2000 | 294 | 2000 |
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Spinal muscular atrophy E Mercuri, CJ Sumner, F Muntoni, BT Darras, RS Finkel Nature Reviews Disease Primers 8 (1), 52, 2022 | 249 | 2022 |
Gene targeting restricted to mouse striated muscle lineage P Miniou, D Tiziano, T Frugier, N Roblot, M Le Meur, J Melki Nucleic acids research 27 (19), e27-e30, 1999 | 242 | 1999 |
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients C Brahe, T Vitali, FD Tiziano, C Angelozzi, AM Pinto, F Borgo, U Moscato, ... European Journal of Human Genetics 13 (2), 256-259, 2005 | 214 | 2005 |
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy E Mercuri, E Bertini, S Messina, A Solari, A D'amico, C Angelozzi, ... Neurology 68 (1), 51-55, 2007 | 203 | 2007 |
Pilot trial of phenylbutyrate in spinal muscular atrophy E Mercuri, E Bertini, S Messina, M Pelliccioni, A D'Amico, F Colitto, ... Neuromuscular Disorders 14 (2), 130-135, 2004 | 181 | 2004 |
Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study TO Crawford, SV Paushkin, DT Kobayashi, SJ Forrest, CL Joyce, ... PloS one 7 (4), e33572, 2012 | 173 | 2012 |
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1 J Zhou, M Tawk, FD Tiziano, J Veillet, M Bayes, F Nolent, V Garcia, ... The American Journal of Human Genetics 91 (1), 5-14, 2012 | 163 | 2012 |
Developmental milestones in type I spinal muscular atrophy R De Sanctis, G Coratti, A Pasternak, J Montes, M Pane, ES Mazzone, ... Neuromuscular Disorders 26 (11), 754-759, 2016 | 161 | 2016 |
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Refined characterization of the expression and stability of the SMN gene products J Vitte, C Fassier, FD Tiziano, C Dalard, S Soave, N Roblot, C Brahe, ... The American journal of pathology 171 (4), 1269-1280, 2007 | 144 | 2007 |
Nusinersen in type 1 spinal muscular atrophy: twelve‐month real‐world data M Pane, G Coratti, VA Sansone, S Messina, C Bruno, M Catteruccia, ... Annals of neurology 86 (3), 443-451, 2019 | 122 | 2019 |