| Spinal muscular atrophy S Nicolau, MA Waldrop, AM Connolly, JR Mendell Seminars in pediatric neurology 37, 100878, 2021 | 72 | 2021 |
| The transcription factor Pitx3 is expressed selectively in midbrain dopaminergic neurons susceptible to neurodegenerative stress KC Luk, VV Rymar, P van den Munckhof, S Nicolau, C Steriade, P Bifsha, ... Journal of neurochemistry 125 (6), 932-943, 2013 | 58 | 2013 |
| Trouble at the junction: when myopathy and myasthenia overlap S Nicolau, JC Kao, T Liewluck Muscle & nerve 60 (6), 648-657, 2019 | 45 | 2019 |
| Therapeutic approaches for Duchenne muscular dystrophy: old and new SJ Mackenzie, S Nicolau, AM Connolly, JR Mendell Seminars in Pediatric Neurology 37, 100877, 2021 | 32 | 2021 |
| A form of muscular dystrophy associated with pathogenic variants in JAG2 S Coppens, AM Barnard, S Puusepp, S Pajusalu, K Õunap, ... The American Journal of Human Genetics 108 (5), 840-856, 2021 | 22 | 2021 |
| Congenital myopathies in the adult neuromuscular clinic: Diagnostic challenges and pitfalls S Nicolau, T Liewluck, JA Tracy, RS Laughlin, M Milone Neurology: Genetics 5 (4), e341, 2019 | 22 | 2019 |
| A novel heterozygous mutation in the C-terminal region of HSPB8 leads to limb-girdle rimmed vacuolar myopathy S Nicolau, T Liewluck, JL Elliott, AG Engel, M Milone Neuromuscular Disorders 30 (3), 236-240, 2020 | 18 | 2020 |
| Myopathies with finger flexor weakness: not only inclusion‐body myositis S Nicolau, T Liewluck, M Milone Muscle & Nerve 62 (4), 445-454, 2020 | 14 | 2020 |
| A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre-and postsynaptic defects of neuromuscular transmission S Nicolau, T Liewluck, XM Shen, D Selcen, AG Engel, M Milone Neuromuscular Disorders 29 (8), 614-617, 2019 | 14 | 2019 |
| Guidelines for genetic testing of muscle and neuromuscular junction disorders S Nicolau, M Milone, T Liewluck Muscle & Nerve 64 (3), 255-269, 2021 | 13 | 2021 |
| The electrophysiology of presynaptic congenital myasthenic syndromes with and without facilitation: from electrodiagnostic findings to molecular mechanisms S Nicolau, M Milone Frontiers in Neurology 10, 447538, 2019 | 13 | 2019 |
| Immune‐mediated necrotizing myopathy: unusual presentations of a treatable disease S Nicolau, M Milone, JA Tracy, JR Mills, JD Triplett, T Liewluck Muscle & nerve 64 (6), 734-739, 2021 | 12 | 2021 |
| Automated immunofluorescence analysis for sensitive and precise dystrophin quantification in muscle biopsies TA Vetter, S Nicolau, AJ Bradley, EC Frair, KM Flanigan Neuropathology and applied neurobiology 48 (3), e12785, 2022 | 10 | 2022 |
| Cardiac involvement in facioscapulohumeral muscular dystrophy (FSHD) A Ducharme-Smith, S Nicolau, CAA Chahal, K Ducharme-Smith, ... Frontiers in neurology 12, 668180, 2021 | 10 | 2021 |
| Expanded genetic insight and clinical experience of DNMT1-complex disorder H Bi, K Hojo, M Watanabe, C Yee, K Maski, S Saba, J Graff-Radford, ... Neurology: Genetics 6 (4), e456, 2020 | 10 | 2020 |
| TFG: At the crossroads of motor neuron disease and myopathy S Nicolau, T Liewluck Muscle & Nerve 60 (6), 645-647, 2019 | 9 | 2019 |
| Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes AP Meyer, ME Forrest, S Nicolau, W Wiszniewski, MP Bland, CY Tsao, ... Human mutation 43 (7), 869-876, 2022 | 5 | 2022 |
| A molecular diagnosis of LGMDR1 established by RNA sequencing S Nicolau, K Choquet, E Bareke, YH Shao, B Brais, EK O’Ferrall, ... Canadian Journal of Neurological Sciences 48 (2), 293-296, 2021 | 5 | 2021 |
| Molecular signatures of inherited and acquired sporadic late onset nemaline myopathies S Nicolau, A Dasgupta, S Dasari, MC Charlesworth, KL Johnson, ... Acta Neuropathologica Communications 11 (1), 20, 2023 | 4 | 2023 |
| Novel desmin mutation causing myofibrillar myopathy in a Hmong family S Nicolau, BM Howe, E Naddaf Frontiers in Neurology 10, 482888, 2020 | 4 | 2020 |
