| Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export A Legati, D Giovannini, G Nicolas, U López-Sánchez, B Quintáns, ... Nature genetics 47 (6), 579-581, 2015 | 266 | 2015 |
| New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies A Legati, A Reyes, A Nasca, F Invernizzi, E Lamantea, V Tiranti, ... Biochimica et Biophysica Acta (BBA)-Bioenergetics 1857 (8), 1326-1335, 2016 | 118 | 2016 |
| Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers G Nicolas, C Charbonnier, RR de Lemos, AC Richard, O Guillin, D Wallon, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 168 …, 2015 | 89 | 2015 |
| Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification RR Lemos, EM Ramos, A Legati, G Nicolas, EM Jenkinson, JH Livingston, ... Human mutation 36 (5), 489-495, 2015 | 80 | 2015 |
| Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy A Nasca, A Legati, E Baruffini, C Nolli, I Moroni, A Ardissone, P Goffrini, ... Human mutation 37 (9), 898-903, 2016 | 72 | 2016 |
| LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance C Dallabona, TEM Abbink, R Carrozzo, A Torraco, A Legati, ... Brain 139 (3), 782-794, 2016 | 67 | 2016 |
| Primary brain calcification: an international study reporting novel variants and associated phenotypes EM Ramos, M Carecchio, R Lemos, J Ferreira, A Legati, RL Sears, ... European Journal of Human Genetics 26 (10), 1462-1477, 2018 | 59 | 2018 |
| A novel mutation P112H in the TARDBP gene associated with frontotemporal lobar degeneration without motor neuron disease and abundant neuritic amyloid … F Moreno, GD Rabinovici, A Karydas, Z Miller, SC Hsu, A Legati, J Fong, ... Acta neuropathologica communications 3, 1-13, 2015 | 59 | 2015 |
| A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders A Ardissone, G Piscosquito, A Legati, T Langella, E Lamantea, ... Neurology 84 (21), 2193-2195, 2015 | 58 | 2015 |
| Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations A Nasca, T Rizza, M Doimo, A Legati, A Ciolfi, D Diodato, C Calderan, ... Orphanet journal of rare diseases 12, 1-10, 2017 | 49 | 2017 |
| Familial behavioral variant frontotemporal dementia associated with astrocyte-predominant tauopathy I Ferrer, A Legati, JC García-Monco, M Gomez-Beldarrain, M Carmona, ... Journal of Neuropathology & Experimental Neurology 74 (4), 370-379, 2015 | 45 | 2015 |
| Clinical and biochemical features in a patient with mitochondrial fission factor gene alteration A Nasca, F Nardecchia, A Commone, M Semeraro, A Legati, B Garavaglia, ... Frontiers in genetics 9, 414852, 2018 | 44 | 2018 |
| Clinical‐genetic features and peculiar muscle histopathology in infantile DNM1L‐related mitochondrial epileptic encephalopathy D Verrigni, M Di Nottia, A Ardissone, E Baruffini, A Nasca, A Legati, ... Human mutation 40 (5), 601-618, 2019 | 39 | 2019 |
| ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy L Caporali, S Magri, A Legati, V Del Dotto, F Tagliavini, F Balistreri, ... Annals of neurology 88 (1), 18-32, 2020 | 35 | 2020 |
| KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature A Ardissone, D Tonduti, A Legati, E Lamantea, R Barone, I Dorboz, ... Orphanet Journal of Rare Diseases 13, 1-10, 2018 | 35 | 2018 |
| Clinical findings in a patient with FARS2 mutations and early‐infantile‐encephalopathy with epilepsy F Raviglione, G Conte, D Ghezzi, C Parazzini, A Righini, R Vergaro, ... American Journal of Medical Genetics Part A 170 (11), 3004-3007, 2016 | 34 | 2016 |
| Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults M Charif, A Nasca, K Thompson, S Gerber, C Makowski, N Mazaheri, ... JAMA neurology 75 (1), 105-113, 2018 | 30 | 2018 |
| A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy A Legati, A Reyes, CC Berti, O Stehling, S Marchet, C Lamperti, A Ferrari, ... Journal of Medical Genetics 54 (12), 815-824, 2017 | 29 | 2017 |
| Garfield-ngs: Genomic variants filtering by deep learning models in NGS V Ravasio, M Ritelli, A Legati, E Giacopuzzi Bioinformatics 34 (17), 3038-3040, 2018 | 28 | 2018 |
| Current and new next-generation sequencing approaches to study mitochondrial DNA A Legati, N Zanetti, A Nasca, C Peron, C Lamperti, E Lamantea, D Ghezzi The Journal of Molecular Diagnostics 23 (6), 732-741, 2021 | 27 | 2021 |
