| Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia A Freischmidt, T Wieland, B Richter, W Ruf, V Schaeffer, K Müller, ... Nature neuroscience 18 (5), 631-636, 2015 | 819 | 2015 |
| Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis W Van Rheenen, A Shatunov, AM Dekker, RL McLaughlin, FP Diekstra, ... Nature genetics 48 (9), 1043-1048, 2016 | 588 | 2016 |
| Genome-wide analyses identify KIF5A as a novel ALS gene A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ... Neuron 97 (6), 1268-1283. e6, 2018 | 576 | 2018 |
| Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model HJ Westeneng, TPA Debray, AE Visser, RPA van Eijk, JPK Rooney, ... The Lancet Neurology 17 (5), 423-433, 2018 | 423 | 2018 |
| Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology W Van Rheenen, RAA Van Der Spek, MK Bakker, JJFA Van Vugt, PJ Hop, ... Nature genetics 53 (12), 1636-1648, 2021 | 275 | 2021 |
| Hot-spot KIF5A mutations cause familial ALS D Brenner, R Yilmaz, K Müller, T Grehl, S Petri, T Meyer, J Grosskreutz, ... Brain 141 (3), 688-697, 2018 | 192 | 2018 |
| Home telemonitoring of non-invasive ventilation decreases healthcare utilisation in a prospective controlled trial of patients with amyotrophic lateral sclerosis A Pinto, JP Almeida, S Pinto, J Pereira, AG Oliveira, M De Carvalho Journal of Neurology, Neurosurgery & Psychiatry 81 (11), 1238-1242, 2010 | 155 | 2010 |
| A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories C Akimoto, AE Volk, M van Blitterswijk, M Van den Broeck, CS Leblond, ... Journal of medical genetics 51 (6), 419-424, 2014 | 141 | 2014 |
| Genetic correlation between amyotrophic lateral sclerosis and schizophrenia VJH McLaughlin RL, Schijven D, van Rheenen W, van Eijk KR, O'Brien M, Kahn ... Nat Commun 21, 2017 | 135* | 2017 |
| A randomized, placebo-controlled trial of memantine for functional disability in amyotrophic lateral sclerosis M De Carvalho, S Pinto, J Costa, T Evangelista, B Ohana, A Pinto Amyotrophic Lateral Sclerosis 11 (5), 456-460, 2010 | 129 | 2010 |
| Quality of life in amyotrophic lateral sclerosis patients and caregivers: impact of assistive communication from early stages A Londral, A Pinto, S Pinto, L Azevedo, M De Carvalho Muscle & nerve 52 (6), 933-941, 2015 | 95 | 2015 |
| Ultrasound for assessment of diaphragm in ALS S Pinto, P Alves, B Pimentel, M Swash, M de Carvalho Clinical Neurophysiology 127 (1), 892-897, 2016 | 90 | 2016 |
| Predicting respiratory insufficiency in amyotrophic lateral sclerosis: the role of phrenic nerve studies S Pinto, A Turkman, A Pinto, M Swash, M de Carvalho Clinical neurophysiology 120 (5), 941-946, 2009 | 88 | 2009 |
| Delayed diagnosis in ALS: the problem continues H Nzwalo, D de Abreu, M Swash, S Pinto, M de Carvalho Journal of the Neurological Sciences 343 (1-2), 173-175, 2014 | 87 | 2014 |
| Respiratory exercise in amyotrophic lateral sclerosis S Pinto, M Swash, M de Carvalho Amyotrophic Lateral Sclerosis 13 (1), 33-43, 2012 | 79 | 2012 |
| Phrenic nerve studies predict survival in amyotrophic lateral sclerosis S Pinto, A Pinto, M de Carvalho Clinical neurophysiology 123 (12), 2454-2459, 2012 | 70 | 2012 |
| Does surgery accelerate progression of amyotrophic lateral sclerosis? S Pinto, M Swash, M de Carvalho Journal of Neurology, Neurosurgery & Psychiatry 85 (6), 643-646, 2014 | 67 | 2014 |
| Roles of vascular endothelial growth factor in amyotrophic lateral sclerosis AC Pronto-Laborinho, S Pinto, M De Carvalho BioMed research international 2014, 2014 | 60 | 2014 |
| Correlation between forced vital capacity and slow vital capacity for the assessment of respiratory involvement in amyotrophic lateral sclerosis: a prospective study S Pinto, M de Carvalho Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 18 (1-2), 86-91, 2017 | 57 | 2017 |
| Changes of the phrenic nerve motor response in amyotrophic lateral sclerosis: longitudinal study S Pinto, R Geraldes, N Vaz, A Pinto, M de Carvalho Clinical neurophysiology 120 (12), 2082-2085, 2009 | 55 | 2009 |
Mamede de CarvalhoFaculdade de Medicina, Instituto de Medicina Molecular, Universidade de Lisboa, Lisbon, PortugalGeverifieerd e-mailadres voor fm.ul.pt
