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
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
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
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
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
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
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
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
Phrenic nerve studies predict survival in amyotrophic lateral sclerosis
S Pinto, A Pinto, M de Carvalho
Clinical neurophysiology 123 (12), 2454-2459, 2012
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
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
Respiratory exercise in amyotrophic lateral sclerosis
S Pinto, M Swash, M de Carvalho
Amyotrophic Lateral Sclerosis 13 (1), 33-43, 2012
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
What is the relevance of percutaneous endoscopic gastrostomy on the survival of patients with amyotrophic lateral sclerosis?
MJ Pena, P Ravasco, M Machado, A Pinto, S Pinto, L Rocha, ...
Amyotrophic Lateral Sclerosis 13 (6), 550-554, 2012
Association of paraspinal and diaphragm denervation in ALS
M De Carvalho, S Pinto, M Swash
Amyotrophic lateral sclerosis 11 (1-2), 63-66, 2010
Roles of vascular endothelial growth factor in amyotrophic lateral sclerosis
AC Pronto-Laborinho, S Pinto, M de Carvalho
BioMed research international 2014, 2014
Paraspinal and limb motor neuron involvement within homologous spinal segments in ALS
MA de Carvalho, S Pinto, M Swash
Clinical neurophysiology 119 (7), 1607-1613, 2008
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