Assessing the impact of age on everyday cognitive function with a virtual environment task: The EcoKitchen

Applied Neuropsychology: Adult

2023 | journal-article

A standardized protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia.

Neuropathology and applied neurobiology

2023 | journal-article

Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.

Movement disorders : official journal of the Movement Disorder Society

2023 | journal-article

Trial of Deferiprone in Parkinson's Disease.

The New England journal of medicine

2022 | journal-article

Mitochondrial and redox modifications in early stages of Huntington's disease.

Redox biology

2022 | journal-article

Classification of Huntington’s Disease Stage with Features Derived from Structural and Diffusion-Weighted Imaging

Journal of Personalized Medicine

2022 | journal-article

Cognition, function and awareness of disease impact in early Parkinson’s and Huntington’s disease

Disability and Rehabilitation

2022 | journal-article

Cerebellar morphometric and spectroscopic biomarkers for Machado-Joseph Disease.

Acta neuropathologica communications

2022 | journal-article

Hereditary spastic paraparesis: The real-world experience from a Neurogenetics outpatient clinic

European Journal of Medical Genetics

2022 | journal-article

Defective mitochondrial-lysosomal axis promotes extracellular vesicles release of mitochondrial components in Huntington’s Disease

2022 | preprint

Mitochondrial and redox modifications in early stages of Huntington’s disease

2022 | preprint

Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity.

Movement disorders : official journal of the Movement Disorder Society

2021 | journal-article

Automatic classification of idiopathic Parkinson’s disease and atypical Parkinsonian syndromes combining [11C]raclopride PET uptake and MRI grey matter morphometry

Journal of Neural Engineering

2021 | journal-article

A link between synaptic plasticity and reorganization of brain activity in Parkinson's disease

Proceedings of the National Academy of Sciences

2021 | journal-article

Correction to: Utility of the Parkinson’s disease-Cognitive Rating Scale for the screening of global cognitive status in Huntington’s disease

Journal of Neurology

2021 | journal-article

Static and Dynamic Ocular Motor Abnormalities as Potential Biomarkers in Spinocerebellar Ataxia Type 3

The Cerebellum

2020 | journal-article

Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3

Science Translational Medicine

2020 | journal-article

Clinical and imagiological features in Portuguese patients with SPG7 mutations

Movement Disorder Society (MDS) International Virtual Congress

2020 | conference-abstract

Overreduced intracellular state detected in Cu-ATSM brain imaging and fibroblasts from prodromal Huntington disease carriers

2020 | conference-abstract

Predictors of quality of life in Machado-Joseph disease: A longitudinal observational study

Movement Disorder Society (MDS) International Virtual Congress

2020 | conference-abstract

The Impact of Deep Brain Stimulation on the Sexual Function of Patients With Parkinson’s Disease

The Neurologist

2020 | journal-article

Dopaminergic Neuronal Imaging in Parkinson's disease parkin mutation patients and potential pathophysiologic insights of simple heterozygous patients: A clinical DAT-SPECT study

Annual Meeting of the American Academy of Neurology

2020 | conference-abstract

A different vision of translational research in biomarker discovery: a pilot study on circulatory mitochondrial proteins as Parkinson's disease potential biomarkers.

Translational neurodegeneration

2020 | journal-article

Protocol for the Characterization of the CAG Tract and Flanking Polymorphisms in Machado-Joseph Disease: Impact on Diagnosis and Development of Gene-Based Therapies.

The Journal of Molecular Diagnostics : JMD

2020 | journal-article

Utility of the Parkinson's disease-Cognitive Rating Scale for the screening of global cognitive status in Huntington's disease.

Journal of neurology

2020 | journal-article

miRNA expression profile of plasma-derived extracellular vesicles distinguishes Machado-Joseph Disease patients from controls

23rd Annual Meeting of the Portuguese Society of Human Genetics

2020 | conference-abstract

Cutaneous adverse drug reaction after continuous subcutaneous apomorphine infusion.

Journal of the European Academy of Dermatology and Venereology : JEADV

2020 | journal-article

The effect of impulsivity and inhibitory control deficits in the saccadic behavior of premanifest Huntington's disease individuals.

Orphanet journal of rare diseases

2019 | journal-article

Freezing of gait and postural instability: the unpredictable response to levodopa in Parkinson's disease.

BMJ case reports

2019 | journal-article

Characterization of a Portuguese cohort of Machado-Joseph disease: besides ataxia

5th Congress of the European Academy of Neurology (EAN)

2019 | conference-abstract

Hereditary spastic paraplegia: from phenotype to molecular diagnosis

5th Congress of the European Academy of Neurology (EAN)

2019 | conference-abstract

Retinal texture biomarkers may help to discriminate between Alzheimer's, Parkinson's, and healthy controls.

PloS one

2019 | journal-article

Dopamine dysregulation syndrome induced by proxy.

BMJ case reports

2019 | journal-article

Early-onset oromandibular-laryngeal dystonia and Charlot gait: New phenotype of DYT-KMT2B.

Neurology

2019 | journal-article

Characterization and follow-up of the Coimbra cohort of Machado-Joseph disease patients

2019 | conference-abstract

Clinical and genetic characteristics of late-onset Huntington's disease

Parkinsonism & Related Disorders

2019 | journal-article

A Novel Ecological Approach Reveals Early Executive Function Impairments in Huntington’s Disease

Frontiers in Psychology

2019 | journal-article

Impulsivity across reactive, proactive and cognitive domains in Parkinson's disease on dopaminergic medication: Evidence for multiple domain impairment

PLOS ONE

2019 | journal-article

"Stiff Young Woman": Case report

International Congress of Parkinson's Disease and Movement Disorders

2018 | conference-abstract

A Young Man with Multiple System Atrophy: A Case Report

International Congress of Parkinson's Disease and Movement Disorders

2018 | conference-abstract

Atypical presentation of PANK2 mutation: A case report

International Congress of Parkinson's Disease and Movement Disorders

2018 | conference-abstract

Clinical and genetic heterogeneity in portuguese patients with Hereditary Spastic Paraplegia

International Congress of Parkinson's Disease and Movement Disorders

2018 | conference-abstract

Early-onset Parkinson's disease in seven patients with heterozygosity for parkin mutation

International Congress of Parkinson's Disease and Movement Disorders

2018 | conference-abstract

Radiologic Biomarkers of Acute Non-Ketotic Hyperglycemic Chorea: A Systematic Review

International Congress of Parkinson's Disease and Movement Disorders

2018 | conference-abstract

A young man with multiple system atrophy - how does polysomnography help?

24th Congress of the European Sleep Research Society (ESRS)

2018 | conference-abstract

ASSESSMENT OF FUNCTIONAL COGNITION IN HUNTINGTON AND PARKINSON DISEASE - A COMPARISON STUDY

Plenary Meeting of the European Huntington's Disease Network (EHDN)

2018 | conference-abstract

Parkinson’s disease with hypocalcaemia: adult presentation of 22q11.2 deletion syndrome

BMJ Case Reports

2018 | journal-article

“Pinball” intrusions in spinocerebellar ataxia type 3

Neurology

2018 | journal-article

Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study.

Journal of Huntington's disease

2018 | journal-article

Assessing Executive Function in Huntington's Disease: A Comparison Between a Virtual Reality Task and Conventional Neuropsychological Tests

2018 | conference-abstract

Clinical Features of Machado-Joseph Disease

Polyglutamine Disorders

2018 | book-chapter

Apathy Profile in Parkinson’s and Huntington’s Disease: A Comparative Cross-Sectional Study

European Neurology

2017 | journal-article

Asymptomatic and transitory postoperative hypodense lesion around deep brain stimulation electrode

21st International Congress of Parkinson's Disease and Movement Disorders

2017 | conference-abstract

Corticobasal degeneration and frontotemporal dementia - an overlapping continuum

21st International Congress of Parkinson's Disease and Movement Disorders

2017 | conference-abstract

Early-Onset Parkinson's disease with Hypocalcemia: Adult Presentation of 22q11.2 Deletion Syndrome

21st International Congress of Parkinson's Disease and Movement Disorders

2017 | conference-abstract

Early-Onset Parkinson's disease with Hypocalcemia: Adult Presentation of 22q11.2 Deletion Syndrome

21st International Congress of Parkinson's Disease and Movement Disorders

2017 | conference-abstract

Pre-synaptic dopaminergic deficit in a patient with familial FTD

21st International Congress of Parkinson's Disease and Movement Disorders

2017 | conference-abstract

Progressive supranuclear palsy presenting with corticobasal syndrome: a case report

21st International Congress of Parkinson's Disease and Movement Disorders

2017 | conference-abstract

Hereditary Spastic Paraplegias - experience of a tertiary center in Portugal

2017 | conference-abstract

Spinocerebellar Ataxia Type 3-characterization of a Portuguese cohort

2017 | conference-abstract

Cognitive decline in Huntington's disease expansion gene carriers

Cortex

2017 | journal-article

Cortical control of vertical and horizontal saccades in progressive supranuclear palsy: An exploratory fMRI study

Journal of the Neurological Sciences

2017 | journal-article

Prevalence of Parkinson's disease: a population-based study in Portugal

European Journal of Neurology

2017 | journal-article

Reliability and validity of 39-item Parkinson’s disease questionnaire and Parkinson’s disease quality of life questionnaire | Fiabilidade e validade do questionário de doença de Parkinson-39 e do questionário de qualidade de vida na doença de Parkinson

Acta Medica Portuguesa

2017 | journal-article

Visual and ocular motor function in the atypical form of neurodegeneration with brain iron accumulation type I

British Journal of Ophthalmology

2017 | journal-article

EVERYDAY EXECUTIVE FUNCTION IN HUNTINGTON'S DISEASE: EARLY DEFICITS ASSESSED BY A VIRTUAL REALITY TASK

2016 | conference-abstract

Clinical manifestations of intermediate allele carriers in Huntington disease

Neurology

2016 | journal-article

Apraxia in Parkinson's disease

20th International Congress of Parkinson's Disease and Movement Disorders

2016 | conference-abstract

Disconjugate horizontal eye movements in spinocerebellar ataxia type 3 (SCA3)

2016 | conference-abstract

Going to the root of the problem: Horner syndrome caused by T1-T2 disc herniation

2016 | conference-abstract

Neurocognitive domains of impulsivity in Parkinson's disease (PD) and the effects of dopaminergic replacement therapy (DRT)

20th International Congress of Parkinson's Disease and Movement Disorders

2016 | conference-abstract

PET examination of the monoamine transporter with 11C-beta-CIT

20th International Congress of Parkinson's Disease and Movement Disorders

2016 | conference-abstract

Peripheral Nervous System involvement in spinocerebellar ataxia type 3-clinical and neurophysiological evaluation

2016 | conference-abstract

Predictors of quality of life in Huntington's disease. A longitudinal observational study

20th International Congress of Parkinson's Disease and Movement Disorders

2016 | conference-abstract

Two cases of Parkinsonism with atypical genetics

20th International Congress of Parkinson's Disease and Movement Disorders

2016 | conference-abstract

Validation of the Portuguese version of the 39-item Parkinson's disease questionnaire

2016 | conference-abstract

Classification of Huntington’s disease stage with support vector machines: A study on oculomotor performance

Behavior Research Methods

2016 | journal-article

Cognition and meaning

Medical Hypotheses

2016 | journal-article

Distinct functional properties of the vertical and horizontal saccadic network in Health and Parkinson's disease: An eye-tracking and fMRI study

Brain Research

2016 | journal-article

Fibroblasts of Machado Joseph Disease patients reveal autophagy impairment

Scientific Reports

2016 | journal-article

Parametric fMRI of paced motor responses uncovers novel whole-brain imaging biomarkers in spinocerebellar ataxia type 3

Human Brain Mapping

2016 | journal-article

Substantia nigra hyperechogenicity does not correlate with motor features in Parkinson's disease

Journal of the Neurological Sciences

2016 | journal-article

Transcranial Sonography and Da TSCAN in early stage Parkinson's disease and essential tremor

European Neurology

2016 | journal-article

Tremor Frequency Assessment by iPhone® Applications: Correlation with EMG Analysis

Journal of Parkinson's Disease

2016 | journal-article

Apathy in Movement Disorders: A cross-sectional study

19th International Congress of Parkinson's Disease and Movement Disorders

2015 | conference-abstract

Hereditary spastic paraplegias - characterization of a family with a SPG11 mutation

1st Congress of the European-Academy-of-Neurology

2015 | conference-abstract

Neuro-ophthalmologic findings in neurodegeneration with brain iron accumulation type I

1st Congress of the European-Academy-of-Neurology

2015 | conference-abstract

Neurodegeneration with Brain Iron Accumulation type I: clinical, genetic, radiographic delineation and impact on quality of life

1st Congress of the European Academy of Neurology

2015 | conference-abstract

x-linked adrenoleucodistrophy - an unpredictable phenotype?

1st Congress of the European-Academy-of-Neurology

2015 | conference-abstract

Diagnostic accuracy of transcranial sonography and DaTSCAN in early stages of Parkinson's disease

20th Meeting of the European Society of Neurosonology and Cerebral Hemodynamics

2015 | conference-abstract

The Impact of Mitochondrial Fusion and Fission Modulation in Sporadic Parkinson's Disease

Mol Neurobiol

2015 | journal-article

The Upshot of LRRK2 Inhibition to Parkinson's Disease Paradigm

Mol Neurobiol

2015 | journal-article

The concept of meaning: the key to clarify the human cognition and psychopathology

Med Hypotheses

2015 | journal-article

COGNITIVE AND OCULOMOTOR PERFORMANCE IN PREMANIFEST HUNTINGTON DISEASE: ONE-YEAR FOLLOW-UP

8th European-Huntington's-Disease-Network Plenary Meeting

2014 | conference-abstract

NEUROIMAGING IN HUNTINGTON'S DISEASE: ON BRAIN FUNCTION, AND ON BRAIN STRUCTURE FROM CLASSICAL APPROACHES TO APPLICATION OF MULTIVOXEL PATTERN ANALYSIS

8th European-Huntington's-Disease-Network Plenary Meeting

2014 | conference-abstract

Tourette's syndrome and associated disorders: a systematic review

Trends in Psychiatry and Psychotherapy

2014 | journal-article

Adult post-streptococcal basal ganglia encephalitis

Joint Congress of European Neurology

2014 | conference-abstract

FMR1 gene premutation in a family with early onset Parkinson's disease

18th International Congress of Parkinson's Disease and Movement Disorders

2014 | conference-abstract

Invasive brain aspergillosis following alemtuzumab therapy

Joint Congress of European Neurology

2014 | conference-abstract

Characterizing Parkinson's Disease Speech by Acoustic and Phonetic Features

11th International Conference on Computational Processing of Portuguese (PROPOR)

2014 | conference-abstract

Suicidal ideation in a European Huntington's disease population

Journal of Affective Disorders

2013 | journal-article

The V471A Polymorphism in Autophagy-Related Gene ATG7 Modifies Age at Onset Specifically in Italian Huntington Disease Patients

PLoS ONE

2013 | journal-article

Levodopa-responsive dystonia-Parkinsonism syndrome associated with a novel ATP1A3 gene mutation

2013 | conference-abstract

Parkinson's disease LRRK2 gene mutations in the central region of Portugal

2013 | conference-abstract

Tremor modulations across periods with and without voluntary motion and limb load task demands using movement quantification.

Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference

2013 | journal-article

Mitochondrial respiratory chain complex activity and bioenergetic alterations in human platelets derived from pre-symptomatic and symptomatic Huntington's disease carriers

Mitochondrion

2013 | journal-article

Tremor modulations across periods with and without voluntary motion and limb load task demands using movement quantification

35th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC)

2013 | conference-abstract

A COMPARISON OF THE MINI MENTAL STATE EXAM TO THE MONTREAL COGNITIVE ASSESSMENT IN EARLY STAGES OF HUNTINGTON'S DISEASE

Plenary Meeting of the European Huntington's Disease Network (EHDN)

2012 | conference-abstract

APATHY PREVALENCE AND CLINICAL CORRELATIONS IN HUNTINGTON'S DISEASE

Plenary Meeting of the European Huntington's Disease Network (EHDN)

2012 | conference-abstract

Implicit contextual learning in prodromal and early stage Huntington's disease patients

J Int Neuropsychol Soc

2012 | journal-article

Posterior reversible encephalopathy syndrome: the importance of early diagnosis

BMJ Case Rep

2012 | journal-article

Scanning Patterns of Faces do not Explain Impaired Emotion Recognition in Huntington Disease: Evidence for a High Level Mechanism

Front Psychol

2012 | journal-article

Ubiquitin proteasome system in Parkinson's disease: a keeper or a witness?

Exp Neurol

2012 | journal-article

Earliest disfunction in Huntington's disease

21st Meeting of the European Neurological Society

2011 | conference-abstract

Earliest disfunction in Huntington's disease

15th International Congress of Parkinsons Disease and Movement Disorders

2011 | conference-abstract

Screening for glucocerebrosidase mutations in patients with parkinsonism, eye movement abnormalities and cognitive decline

21st Meeting of the European-Neurological-Society

2011 | conference-abstract

Spectrum of the mutations in Portuguese Parkinson's patients

21st Meeting of the European Neurological Society

2011 | conference-abstract

Bioenergetic dysfunction in Huntington's disease human cybrids

Exp Neurol

2011 | journal-article

Specific impairment of visual spatial covert attention mechanisms in Parkinson's disease

Neuropsychologia

2011 | journal-article

Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY

Journal of Neurology, Neurosurgery & Psychiatry

2010 | journal-article

Behavioural changes in presymptomatic Huntington's disease

14th Congress of European Federation of Neurological Societies

2010 | conference-abstract

Health-related quality of life in Huntington's disease

14th Congress of European Federation of Neurological Societies

2010 | conference-abstract

Hereditary spastic paraplegias in the neurogenetic unit of Coimbra's University Hospital

14th Congress of European Federation of Neurological Societies

2010 | conference-abstract

Parkinson's disease - do patients with parkin gene mutations share a common phenotype?

20th Meeting of the European Neurological Society

2010 | conference-abstract

Mitochondrial-dependent apoptosis in Huntington's disease human cybrids

Exp Neurol

2010 | journal-article

Spinocerebellar ataxia 3 presenting as Parkinson disease case series

2009 | conference-abstract

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

New England Journal of Medicine

2009 | journal-article

Early onset Parkinson disease and spinocerebellar ataxia type 3

13th Congress of the European Federation of Neurological Societies

2009 | conference-abstract

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal

Neurobiology of Aging

2009 | journal-article

CORTICOBASAL DEGENERATION PRESENTING WITH DEPRESSION AND DYSTONIA: A CASE REPORT

2009 | conference-abstract

Motion integration deficits are independent of magnocellular impairment in Parkinson's disease

Neuropsychologia

2009 | journal-article

The role of the basal ganglia in implicit contextual learning: a study of Parkinson's disease

Neuropsychologia

2009 | journal-article

Lack of replication of association between GIGYF2 variants and Parkinson disease

Human Molecular Genetics

2008 | journal-article

PARK2 mutation in a patient with multiple system atrophy

12th Congress of the European Federation of Neurological Societies

2008 | conference-abstract

Effects of Nebicapone on Levodopa Pharmacokinetics, Catechol-O-methyltransferase Activity, and Motor Fluctuations in Patients with Parkinson Disease

Clinical Neuropharmacology

2008 | journal-article

Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2

BMC Neurol

2008 | journal-article

Evidence of apoptosis and mitochondrial abnormalities in peripheral blood cells of Huntington's disease patients

Biochem Biophys Res Commun

2008 | journal-article

Mitochondrial function in Parkinson's disease cybrids containing an nt2 neuron-like nuclear background

Mitochondrion

2008 | journal-article

Pathological laughter as a presenting symptom of corticobasal degeneration

12th International Congress of Parkinsons Disease and Movement Disorders

2008 | conference-abstract

Combined [I-123]FP-CIT SPECT and Tc-99m-HMPAO SPECT for the diagnosis of dementia with Lewy bodies

2007 | conference-abstract

The effect of Parkinson's disease on implicit spatial context learning

2007 | conference-abstract

Sporadic Creutzfeldt-Jakob disease: Clinical, neuropathological, biochemistry and genetic aspects

2006 | conference-abstract

Tetrabenazine in refractory hyperkinetic movement disorders

2006 | conference-abstract

Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort

BMC Neurology

2006 | journal-article

A double-blind, randomized, placebo- and entacapone-controlled study to investigate the effect of nebicapone on levodopa pharmacokinetics, COMT activity and motor response in PD patients

10th International Congress of Parkinson's Disease and Movement Disorders

2006 | conference-abstract

Genes and Parkinson's disease - A clinic-based study in a Portuguese cohort

1st World Parkinson Congress

2006 | conference-abstract

Mutations in LRRK2 - A clinical and genetic study in a Portuguese population

1st World Parkinson Congress

2006 | conference-abstract

Specific retinotopically based magnocellular impairment in a patient with medial visual dorsal stream damage

Neuropsychologia

2006 | journal-article

Huntington's disease in Portugal: Seven year experience of the reference laboratory

World Congress on Huntingtons Disease

2005 | conference-abstract

G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort

Mov Disord

2005 | journal-article

Independent patterns of damage within magno-, parvo- and koniocellular pathways in Parkinson's disease

Brain

2005 | journal-article

Patterns of damage within magno, parvo, and koniocellular pathways in Parkinson's disease

9th International Congress of Parkinsons Disease and Movement Disorders

2005 | conference-abstract

Retinotopic magnocellular impairment with preserved motion-coherence perception: Evidence for functional segregation of medial and lateral visual dorsal streams

2005 | conference-abstract

Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice

European Journal of Human Genetics

2003 | journal-article

Parkinson's disease and mitochondrial DNA NADH dehydrogenase subunit 1 nucleotides 3337-3340: study in a population from the central region of Portugal (Coimbra).

European neurology

2003 | journal-article

Parkinson's disease and mitochondrial DNA NADH dehydrogenase subunit 1 nucleotides 3337-3340: study in a population from the central region of Portugal (Coimbra)

Eur Neurol

2003 | journal-article

Trinucleotide Repeats in 202 Families With Ataxia

Archives of Neurology

2002 | journal-article