| Genetic basis of limb-girdle muscular dystrophies: the 2014 update V Nigro, M Savarese Acta Myologica 33 (1), 1-12, 2014 | 335 | 2014 |
| Increasing role of titin mutations in neuromuscular disorders M Savarese, J Sarparanta, A Vihola, B Udd, P Hackman Journal of neuromuscular diseases 3 (3), 293-308, 2016 | 145 | 2016 |
| The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients M Savarese, G Di Fruscio, A Torella, C Fiorillo, F Magri, M Fanin, ... Neurology 87 (1), 71-76, 2016 | 109 | 2016 |
| The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis F Magri, V Nigro, C Angelini, T Mongini, M Mora, I Moroni, A Toscano, ... Muscle & nerve 55 (1), 55-68, 2017 | 106 | 2017 |
| MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients C Fiorillo, G Astrea, M Savarese, D Cassandrini, G Brisca, F Trucco, ... Orphanet journal of rare diseases 11, 1-14, 2016 | 89 | 2016 |
| Interpreting genetic variants in titin in patients with muscle disorders M Savarese, L Maggi, A Vihola, PH Jonson, G Tasca, L Ruggiero, L Bello, ... JAMA neurology 75 (5), 557-565, 2018 | 84 | 2018 |
| TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations YJ Lee, PH Jonson, J Sarparanta, J Palmio, M Sarkar, A Vihola, A Evilä, ... The Journal of clinical investigation 128 (3), 1164-1177, 2018 | 84 | 2018 |
| MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples M Savarese, G Di Fruscio, M Mutarelli, A Torella, F Magri, FM Santorelli, ... Acta neuropathologica communications 2, 1-13, 2014 | 84 | 2014 |
| Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F A Torella, M Fanin, M Mutarelli, E Peterle, F Del Vecchio Blanco, R Rispoli, ... PloS one 8 (5), e63536, 2013 | 81 | 2013 |
| GRASP65 and GRASP55 sequentially promote the transport of C-terminal valine-bearing cargos to and through the Golgi complex G D'Angelo, L Prencipe, L Iodice, G Beznoussenko, M Savarese, ... Journal of biological chemistry 284 (50), 34849-34860, 2009 | 80 | 2009 |
| Next generation sequencing on patients with LGMD and nonspecific myopathies: findings associated with ANO5 mutations M Savarese, G Di Fruscio, G Tasca, L Ruggiero, S Janssens, ... Neuromuscular Disorders 25 (7), 533-541, 2015 | 72 | 2015 |
| The complexity of titin splicing pattern in human adult skeletal muscles M Savarese, PH Jonson, S Huovinen, L Paulin, P Auvinen, B Udd, ... Skeletal Muscle 8, 1-9, 2018 | 69 | 2018 |
| Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases B Zurek, K Ellwanger, LELM Vissers, R Schüle, M Synofzik, A Töpf, ... European journal of human genetics 29 (9), 1325-1331, 2021 | 67 | 2021 |
| Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders G Piluso, M Dionisi, F Del Vecchio Blanco, A Torella, S Aurino, ... Clinical chemistry 57 (11), 1584-1596, 2011 | 67 | 2011 |
| Loss of the Otx2-binding site in the Nanog promoter affects the integrity of embryonic stem cell subtypes and specification of inner cell mass-derived epiblast D Acampora, D Omodei, G Petrosino, A Garofalo, M Savarese, V Nigro, ... Cell reports 15 (12), 2651-2664, 2016 | 61 | 2016 |
| Next-generation sequencing approaches for the diagnosis of skeletal muscle disorders V Nigro, M Savarese Current Opinion in Neurology 29 (5), 621-627, 2016 | 57 | 2016 |
| Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy A Evilä, J Palmio, A Vihola, M Savarese, G Tasca, S Penttilä, S Lehtinen, ... Molecular Neurobiology 54, 7212-7223, 2017 | 54 | 2017 |
| Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway G Di Fruscio, A Schulz, R De Cegli, M Savarese, M Mutarelli, G Parenti, ... Autophagy 11 (6), 928-938, 2015 | 50 | 2015 |
| Genotype–phenotype correlations in recessive titinopathies M Savarese, A Vihola, EC Oates, R Barresi, C Fiorillo, G Tasca, M Jokela, ... Genetics in Medicine 22 (12), 2029-2040, 2020 | 41 | 2020 |
| Expanding the importance of HMERF titinopathy: new mutations and clinical aspects J Palmio, S Leonard-Louis, S Sacconi, M Savarese, S Penttilä, ... Journal of neurology 266, 680-690, 2019 | 38 | 2019 |
