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 …

[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 …

[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 …

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 …

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 …

[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 …

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 …

Survival, mortality, causes and places of death in a European Huntington's disease prospective cohort

…, N Goncalves, L CorreiaGuedes… - 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 …

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 …

[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…