| Nusinersen versus sham control in infantile-onset spinal muscular atrophy RS Finkel, E Mercuri, BT Darras, AM Connolly, NL Kuntz, J Kirschner, ... New England Journal of Medicine 377 (18), 1723-1732, 2017 | 1985 | 2017 |
| Emerging therapies and challenges in spinal muscular atrophy MA Farrar, SB Park, S Vucic, KA Carey, BJ Turner, TH Gillingwater, ... Annals of neurology 81 (3), 355-368, 2017 | 250 | 2017 |
| Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy VA Gupta, G Ravenscroft, R Shaheen, EJ Todd, LC Swanson, M Shiina, ... The American Journal of Human Genetics 93 (6), 1108-1117, 2013 | 168 | 2013 |
| The genetics of spinal muscular atrophy: progress and challenges MA Farrar, MC Kiernan Neurotherapeutics 12 (2), 290-302, 2015 | 165 | 2015 |
| Pathophysiological insights derived by natural history and motor function of spinal muscular atrophy MA Farrar, S Vucic, HM Johnston, D du Sart, MC Kiernan The Journal of pediatrics 162 (1), 155-159, 2013 | 160 | 2013 |
| Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial KA Strauss, MA Farrar, F Muntoni, K Saito, JR Mendell, L Servais, ... Nature medicine 28 (7), 1381-1389, 2022 | 143 | 2022 |
| 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 | 137 | 2021 |
| Thrombotic microangiopathy following onasemnogene abeparvovec for spinal muscular atrophy: a case series DH Chand, C Zaidman, K Arya, R Millner, MA Farrar, FE Mackie, ... The Journal of pediatrics 231, 265-268, 2021 | 135 | 2021 |
| The implementation of newborn screening for spinal muscular atrophy: the Australian experience D Kariyawasam, JS Russell, V Wiley, IE Alexander, MA Farrar Genetics in Medicine 22 (3), 557-565, 2020 | 128 | 2020 |
| Clinical characteristics and functional motor outcomes of enterovirus 71 neurological disease in children HL Teoh, SS Mohammad, PN Britton, T Kandula, MS Lorentzos, R Booy, ... JAMA neurology 73 (3), 300-307, 2016 | 123 | 2016 |
| Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial KA Strauss, MA Farrar, F Muntoni, K Saito, JR Mendell, L Servais, ... Nature medicine 28 (7), 1390-1397, 2022 | 118 | 2022 |
| Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions G Ho, M Cardamone, M Farrar World journal of clinical pediatrics 4 (4), 66, 2015 | 113 | 2015 |
| Congenital titinopathy: comprehensive characterization and pathogenic insights EC Oates, KJ Jones, S Donkervoort, A Charlton, S Brammah, JE Smith III, ... Annals of neurology 83 (6), 1105-1124, 2018 | 109 | 2018 |
| Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia C Michot, L Hubert, NB Romero, A Gouda, A Mamoune, S Mathew, E Kirk, ... Journal of inherited metabolic disease 35, 1119-1128, 2012 | 109 | 2012 |
| Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: evidence of clinical utility and cost effectiveness EE Palmer, D Schofield, R Shrestha, T Kandula, R Macintosh, JA Lawson, ... Molecular genetics & genomic medicine 6 (2), 186-199, 2018 | 100 | 2018 |
| Pediatric chemotherapy induced peripheral neuropathy: a systematic review of current knowledge T Kandula, SB Park, RJ Cohn, AV Krishnan, MA Farrar Cancer treatment reviews 50, 118-128, 2016 | 99 | 2016 |
| An integrated safety analysis of infants and children with symptomatic spinal muscular atrophy (SMA) treated with nusinersen in seven clinical trials BT Darras, MA Farrar, E Mercuri, RS Finkel, R Foster, SG Hughes, I Bhan, ... CNS drugs 33, 919-932, 2019 | 93 | 2019 |
| Chemotherapy-induced peripheral neuropathy in long-term survivors of childhood cancer: clinical, neurophysiological, functional, and patient-reported outcomes T Kandula, MA Farrar, RJ Cohn, D Mizrahi, K Carey, K Johnston, ... JAMA neurology 75 (8), 980-988, 2018 | 91 | 2018 |
| Neurophysiological and clinical outcomes in chemotherapy-induced neuropathy in cancer T Kandula, MA Farrar, MC Kiernan, AV Krishnan, D Goldstein, L Horvath, ... Clinical Neurophysiology 128 (7), 1166-1175, 2017 | 73 | 2017 |
| Nusinersen for SMA: expanded access programme MA Farrar, HL Teoh, KA Carey, A Cairns, R Forbes, K Herbert, S Holland, ... Journal of Neurology, Neurosurgery & Psychiatry 89 (9), 937-942, 2018 | 61 | 2018 |
