| Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go T Dangouloff, E Vrščaj, L Servais, D Osredkar, T Adoukonou, O Aryani, ... Neuromuscular Disorders 31 (6), 574-582, 2021 | 136 | 2021 |
| TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features S Balestrini, M Milh, C Castiglioni, K Lüthy, MJ Finelli, P Verstreken, ... Neurology 87 (1), 77-85, 2016 | 119 | 2016 |
| Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores N Monnier, I Marty, J Faure, C Castiglioni, C Desnuelle, S Sacconi, ... Human mutation 29 (5), 670-678, 2008 | 106 | 2008 |
| Phenomenology and clinical course of movement disorder in GNAO1 variants: results from an analytical review T Schirinzi, G Garone, L Travaglini, G Vasco, S Galosi, L Rios, ... Parkinsonism & Related Disorders 61, 19-25, 2019 | 67 | 2019 |
| McLeod myopathy revisited: more neurogenic and less benign E Hewer, A Danek, BG Schoser, M Miranda, R Reichard, C Castiglioni, ... Brain 130 (12), 3285-3296, 2007 | 67 | 2007 |
| Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review C Castiglioni, D Verrigni, C Okuma, A Diaz, K Alvarez, T Rizza, ... European Journal of Paediatric Neurology 19 (5), 497-503, 2015 | 60 | 2015 |
| Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study S Groeneweg, FS van Geest, A Abacı, A Alcantud, GP Ambegaonkar, ... The Lancet Diabetes & Endocrinology 8 (7), 594-605, 2020 | 58 | 2020 |
| The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series RN Villar-Quiles, M von Der Hagen, C Métay, V Gonzalez, S Donkervoort, ... Neurology 95 (11), e1512-e1527, 2020 | 46 | 2020 |
| Severe brain involvement in 5q spinal muscular atrophy type 0 RH Mendonça, AJ Rocha, A Lozano‐Arango, AB Diaz, C Castiglioni, ... Annals of neurology 86 (3), 458-462, 2019 | 39 | 2019 |
| Broadening the imaging phenotype of dysferlinopathy at different disease stages J Díaz, L Woudt, L Suazo, C Garrido, P Caviedes, AM CÁrdenas, ... Muscle & nerve 54 (2), 203-210, 2016 | 38 | 2016 |
| Atrofia muscular espinal: Caracterización clínica, electrofisiológica y molecular de 26 pacientes C Castiglioni, J Levicán, E Rodillo, MA Garmendia, A Díaz, L Pizarro, ... Revista médica de Chile 139 (2), 197-204, 2011 | 38 | 2011 |
| Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy A Sferra, F Fattori, T Rizza, E Flex, E Bellacchio, A Bruselles, S Petrini, ... Human molecular genetics 27 (11), 1892-1904, 2018 | 35 | 2018 |
| Insights from genotype–phenotype correlations by novel SPEG mutations causing centronuclear myopathy H Wang, C Castiglioni, AK Bayram, F Fattori, S Pekuz, D Araneda, H Per, ... Neuromuscular Disorders 27 (9), 836-842, 2017 | 35 | 2017 |
| Phenotypic variability of a distinct deletion in McLeod syndrome M Miranda, C Castiglioni, BM Frey, M Hergersberg, A Danek, HH Jung Movement disorders: official journal of the Movement Disorder Society 22 (9 …, 2007 | 32 | 2007 |
| Aripiprazole for the treatment of Tourette syndrome. Experience in 10 patients G de la Tourette Rev Med Chile 135, 773-776, 2007 | 32 | 2007 |
| Toward an objective measure of functional disability in dysferlinopathy L Woudt, GA Di Capua, M Krahn, C Castiglioni, R Hughes, M Campero, ... Muscle & nerve 53 (1), 49-57, 2016 | 30 | 2016 |
| PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins C Castiglioni, I López, F Riant, E Bertini, A Terracciano european journal of paediatric neurology 17 (3), 254-258, 2013 | 30 | 2013 |
| Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity M Tordjman, I Dabaj, P Laforet, A Felter, A Ferreiro, M Biyoukar, B Law-Ye, ... European radiology 28, 5293-5303, 2018 | 29 | 2018 |
| Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor J Breckpot, M Vercruyssen, E Weyts, S Vandevoort, G D'Haenens, ... European journal of medical genetics 59 (9), 436-443, 2016 | 29 | 2016 |
| International retrospective natural history study of LMNA-related congenital muscular dystrophy R Ben Yaou, P Yun, I Dabaj, G Norato, S Donkervoort, H Xiong, ... Brain communications 3 (3), fcab075, 2021 | 23 | 2021 |
ENRICO BERTINIHead of the Research Unit of Neuromuscular and Neurodegenerative Disorders, Ospedale PediatricoDirección de correo verificada de opbg.net
