| 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 | 423 | 2012 |
| An international, multicentered, evidence-based reappraisal of genes reported to cause congenital long QT syndrome A Adler, V Novelli, AS Amin, E Abiusi, M Care, EA Nannenberg, ... Circulation 141 (6), 418-428, 2020 | 339 | 2020 |
| Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death R Walsh, A Adler, AS Amin, E Abiusi, M Care, H Bikker, S Amenta, ... European heart journal 43 (15), 1500-1510, 2022 | 94 | 2022 |
| Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy R De Sanctis, M Pane, G Coratti, C Palermo, D Leone, MC Pera, E Abiusi, ... Neuromuscular Disorders 28 (1), 24-28, 2018 | 68 | 2018 |
| Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1 G Rubboli, P Veggiotti, A Pini, A Berardinelli, G Cantalupo, E Bertini, ... Epilepsia 56 (5), 692-698, 2015 | 44 | 2015 |
| Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita A Laquerriere, D Jaber, E Abiusi, J Maluenda, D Mejlachowicz, A Vivanti, ... Journal of medical genetics 59 (6), 559-567, 2022 | 43 | 2022 |
| Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol FD Tiziano, R Lomastro, E Abiusi, MB Pasanisi, L Di Pietro, S Fiori, ... Journal of Medical Genetics 56 (5), 293-300, 2019 | 40 | 2019 |
| Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening M Pane, MA Donati, C Cutrona, R De Sanctis, M Pirinu, G Coratti, M Ricci, ... European Journal of Pediatrics 181 (7), 2821-2829, 2022 | 32 | 2022 |
| Biobanca e Registro Clinico per l'Emiplegia Alternante (IB AHC) Consortium EL Heinzen, KJ Swoboda, Y Hitomi, F Gurrieri, S Nicole, B de Vries, ... European Network for Research on Alternating Hemiplegia (ENRAH) for Small …, 2012 | 32 | 2012 |
| Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: Towards specific guidelines and standard operating procedures for the molecular diagnosis E Abiusi, A Vaisfeld, S Fiori, A Novelli, S Spartano, MV Faggiano, ... Journal of medical genetics 60 (7), 697-705, 2023 | 28 | 2023 |
| SMA-miRs (miR-181a-5p,-324-5p, and-451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples E Abiusi, P Infante, C Cagnoli, L Lospinoso Severini, M Pane, G Coratti, ... elife 10, e68054, 2021 | 21 | 2021 |
| Longitudinal assessments in discordant twins with SMA M Pane, L Lapenta, E Abiusi, R De Sanctis, M Luigetti, C Palermo, ... Neuromuscular Disorders 27 (10), 890-893, 2017 | 13 | 2017 |
| Phosphatase and tensin homolog (PTEN) variants and epilepsy: a multicenter case series N Ronzano, M Scala, E Abiusi, I Contaldo, C Leoni, MS Vari, T Pisano, ... Seizure: European Journal of Epilepsy 100, 82-86, 2022 | 10 | 2022 |
| Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis E Abiusi, M D’alessandro, K Dieterich, L Quevarec, S Turczynski, ... Human Molecular Genetics 26 (20), 3989-3994, 2017 | 9 | 2017 |
| P. 6.4 Salbutamol tolerability and efficacy in adult type III SMA patients: Results of a multicentric, molecular and clinical, double-blind, placebo-controlled study L Morandi, E Abiusi, MB Pasanisi, R Lomastro, S Fiori, L Di Pietro, ... Neuromuscular Disorders 23 (9), 771, 2013 | 7 | 2013 |
| Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene E Panagiotakaki, FD Tiziano, MA Mikati, LS Vijfhuizen, S Nicole, G Lesca, ... European Journal of Human Genetics 32 (2), 224-231, 2024 | 5 | 2024 |
| 270th ENMC international workshop: Consensus for SMN2 genetic analysis in SMA patients 10–12 March, 2023, Hoofddorp, the Netherlands E Abiusi, M Costa-Roger, ES Bertini, FD Tiziano, EF Tizzano Neuromuscular Disorders 34, 114-122, 2024 | 5 | 2024 |
| Plasma miR-151-3p as a candidate diagnostic biomarker for head and neck cancer: a cross-sectional study within the INHANCE consortium R Pastorino, M Sassano, F Danilo Tiziano, L Giraldi, R Amore, D Arzani, ... Cancer Epidemiology, Biomarkers & Prevention 31 (12), 2237-2243, 2022 | 4 | 2022 |
| Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome? M Pane, G Stanca, C Ticci, C Cutrona, R De Sanctis, M Pirinu, G Coratti, ... European Journal of Pediatrics, 1-5, 2024 | 1 | 2024 |
| Atrofia muscolare spinale: aspetti genetici e patogenetici E Abiusi, A Vaisfeld, FD Tiziano Giornale di NEUROPSICHIATRIA dell’ETÀ EVOLUTIVA 39, 79-85, 2019 | 1 | 2019 |
