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Published in 2020 at "Movement Disorders"
DOI: 10.1002/mds.28261
Abstract: The aim of this study was to know the impact of the coronavirus disease 2019 (COVID‐19) pandemic on Spanish patients with Parkinson's disease (PD).
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Keywords:
impact covid;
pandemic parkinson;
spanish patients;
parkinson disease ... See more keywords
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Published in 2017 at "Anales De Pediatria"
DOI: 10.1016/j.anpede.2016.05.006
Abstract: Abstract Introduction Congenital central hypoventilation syndrome (CCHS) is a very rare genetic disease. In 2012 the European Central Hypoventilation Syndrome (EuCHS) Consortium created an online patient registry in order to improve care. Aim To determine…
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Keywords:
spanish patients;
hypoventilation syndrome;
central hypoventilation;
registry ... See more keywords
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Published in 2017 at "Anales de pediatria"
DOI: 10.1016/j.anpedi.2016.05.008
Abstract: INTRODUCTION Congenital Central Hypoventilation Syndrome (CCHS) is a very rare genetic disease. In 2012 the European Central Hypoventilation Syndrome (EuCHS) Consortium created an online patient registry in order to improve care. AIM To determine the…
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Keywords:
spanish patients;
hypoventilation syndrome;
central hypoventilation;
registry ... See more keywords
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Published in 2022 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-021-02079-7
Abstract: Background The limited knowledge about the PTEN hamartoma tumor syndrome (PHTS) makes its diagnosis a challenging task. We aimed to define the clinical and genetic characteristics of this syndrome in the Spanish population and to…
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Keywords:
hamartoma tumor;
clinical genetic;
spanish patients;
pten hamartoma ... See more keywords
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Published in 2021 at "PLoS ONE"
DOI: 10.1371/journal.pone.0260241
Abstract: Background Gaucher’s disease is associated with a high variety of structural and functional abnormalities in the eye, which do not always affect visual acuity. The purpose of this study was to analyse ocular features in…
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Keywords:
patients gaucher;
thickness;
disease type;
disease severity ... See more keywords
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Published in 2020 at "Current Alzheimer research"
DOI: 10.2174/1567205017666201204162837
Abstract: BACKGROUND Although some studies suggest that writing difficulties may be one of the early symptoms of Alzheimer's disease (AD), they have been scarcely studied compared to oral language. Particularly noteworthy is the paucity of longitudinal…
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Keywords:
impairment spanish;
patients alzheimer;
spanish patients;
alzheimer disease ... See more keywords