| Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care E Mercuri, RS Finkel, F Muntoni, B Wirth, J Montes, M Main, ES Mazzone, ... Neuromuscular disorders 28 (2), 103-115, 2018 | 878 | 2018 |
| Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits H Puccio, D Simon, M Cossée, P Criqui-Filipe, F Tiziano, J Melki, ... Nature genetics 27 (2), 181-186, 2001 | 800 | 2001 |
| Spinal muscular atrophy A D'Amico, E Mercuri, FD Tiziano, E Bertini Orphanet journal of rare diseases 6, 1-10, 2011 | 640 | 2011 |
| 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 | 402 | 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 | 333 | 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 | 296 | 2001 |
| 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 | 292 | 2000 |
| Psoriasis is associated with pleiotropic susceptibility loci identified in type II diabetes and Crohn disease N Wolf, M Quaranta, NJ Prescott, M Allen, R Smith, AD Burden, ... Journal of medical genetics 45 (2), 114-116, 2008 | 284* | 2008 |
| Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders L Boccuto, M Lauri, SM Sarasua, CD Skinner, D Buccella, A Dwivedi, ... European Journal of Human Genetics 21 (3), 310-316, 2013 | 266 | 2013 |
| 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 | 237 | 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 | 208 | 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 | 200 | 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 | 178 | 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 | 162 | 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 | 154 | 2012 |
| Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients E Panagiotakaki, E De Grandis, M Stagnaro, EL Heinzen, C Fons, ... Orphanet journal of rare diseases 10, 1-13, 2015 | 148 | 2015 |
| 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 | 145 | 2016 |
| 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 | 132 | 2007 |
| Phenotypic spectrum of STRA6 mutations: from Matthew‐Wood syndrome to non‐lethal anophthalmia N Chassaing, C Golzio, S Odent, L Lequeux, A Vigouroux, ... Human mutation 30 (5), E673-E681, 2009 | 116 | 2009 |
| Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I C Brahe, O Clermont, S Zappata, F Tiziano, J Melki, G Neri Human molecular genetics 5 (12), 1971-1976, 1996 | 116 | 1996 |
