Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study
…, R Bos, J Callaghan, A Come, LC Guedes… - The Lancet …, 2017 - thelancet.com
Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin
gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis …
gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis …
[HTML][HTML] LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study
…, HC Chang, P Parchi, M Melis, LC Guedes… - The Lancet …, 2018 - thelancet.com
Background Most patients with Parkinson's disease, Parkinson's disease dementia, and
dementia with Lewy bodies do not carry mutations in known disease-causing genes. The aim of …
dementia with Lewy bodies do not carry mutations in known disease-causing genes. The aim of …
[HTML][HTML] Posttranslational modifications of blood-derived alpha-synuclein as biochemical markers for Parkinson's disease
H Vicente Miranda, R Cássio, L Correia-Guedes… - Scientific reports, 2017 - nature.com
Parkinson’s disease (PD) is a progressive neurodegenerative disorder known for the typical
motor features associated. Pathologically, it is characterized by the intracellular …
motor features associated. Pathologically, it is characterized by the intracellular …
Substantia nigra neuromelanin‐MR imaging differentiates essential tremor from Parkinson's disease
…, P Pita Lobo, D Neutel, LC Guedes… - Movement …, 2015 - Wiley Online Library
ABSTRACT: Background Essential tremor (ET) is a very common movement disorder that
has no diagnostic markers. Differentiation with Parkinson's disease (PD) can be clinically …
has no diagnostic markers. Differentiation with Parkinson's disease (PD) can be clinically …
Serum lipid alterations in GBA-associated Parkinson's disease
LC Guedes, RB Chan, MA Gomes… - Parkinsonism & related …, 2017 - Elsevier
Introduction Mutations in the GBA gene, encoding for the lysosomal enzyme glucocerebrosidase,
are associated with Gaucher disease. Alterations in plasma sphingolipids have been …
are associated with Gaucher disease. Alterations in plasma sphingolipids have been …
[HTML][HTML] Clinical trials in palliative care: a systematic review of their methodological characteristics and of the quality of their reporting
…, M Rosário, J Alarcão, L Correia-Guedes… - BMC palliative …, 2017 - Springer
Background Over the past decades there has been a significant increase in the number of
published clinical trials in palliative care. However, empirical evidence suggests that there are …
published clinical trials in palliative care. However, empirical evidence suggests that there are …
Do patients with late-stage Parkinson's disease still respond to levodopa?
M Fabbri, M Coelho, D Abreu, LC Guedes… - Parkinsonism & related …, 2016 - Elsevier
Background Late-stage Parkinson’ disease (PD) is dominated by loss of autonomy due to
motor and non-motor symptoms which can be marginally corrected by medications …
motor and non-motor symptoms which can be marginally corrected by medications …
Survival, mortality, causes and places of death in a European Huntington's disease prospective cohort
…, N Goncalves, L Correia‐Guedes… - Movement disorders …, 2017 - Wiley Online Library
Background Huntington's disease ( HD ) is a rare and fatal inherited genetic disorder
characterized by progressive motor, cognitive, and behavioral impairment. It leads to premature …
characterized by progressive motor, cognitive, and behavioral impairment. It leads to premature …
High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal
JJ Ferreira, LC Guedes, MM Rosa… - Movement …, 2007 - Wiley Online Library
Mutations in the Leucine‐Rich Repeat Kinase 2 (LRRK2) gene are the most frequent known
cause of Parkinson's disease (PD), but their prevalence varies markedly between …
cause of Parkinson's disease (PD), but their prevalence varies markedly between …
[HTML][HTML] Speech and voice response to a levodopa challenge in late-stage Parkinson's disease
…, R Cardoso, M Coelho, LC Guedes… - Frontiers in …, 2017 - frontiersin.org
Background Parkinson’s disease (PD) patients are affected by hypokinetic dysarthria,
characterized by hypophonia and dysprosody, which worsens with disease progression. Levodopa…
characterized by hypophonia and dysprosody, which worsens with disease progression. Levodopa…