Susana Pinto
Susana Pinto
Translational and Clinical Physiology Unit, Instituto de Medicina Molecular, Lisboa, Portugal
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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
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
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
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
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
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
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
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
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
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
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
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
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
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
Respiratory exercise in amyotrophic lateral sclerosis
S Pinto, M Swash, M de Carvalho
Amyotrophic Lateral Sclerosis 13 (1), 33-43, 2012
Phrenic nerve studies predict survival in amyotrophic lateral sclerosis
S Pinto, A Pinto, M de Carvalho
Clinical neurophysiology 123 (12), 2454-2459, 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
Roles of vascular endothelial growth factor in amyotrophic lateral sclerosis
AC Pronto-Laborinho, S Pinto, M De Carvalho
BioMed research international 2014, 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
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
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