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Identification of Genetic Risk Factors for Maxillary Lateral Incisor Agenesis

Journal of dental research, 2014-05, Vol.93 (5), p.452-458

2014

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Quantifying Intra-Arterial Verapamil Response as a Diagnostic Tool for Reversible Cerebral Vasoconstriction Syndrome

American journal of neuroradiology : AJNR, 2020-10, Vol.41 (10), p.1869-1875

2020

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Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

Brain (London, England : 1878), 2009-10, Vol.132 (10), p.2688-2698

2009

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Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal

European journal of neurology, 2010-01, Vol.17 (1), p.124-128

2010

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Analysis of (CAG) n expansion in ATXN1, ATXN2 and ATXN3 in Chinese patients with multiple system atrophy

Scientific reports, 2018-03, Vol.8 (1), p.3889-5, Article 3889

2018

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Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil

European journal of neurology, 2017-07, Vol.24 (7), p.892-e36

2017

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Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment

Brain & development (Tokyo. 1979), 2009-01, Vol.31 (1), p.46-51

2009

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Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population

Clinical genetics, 2010-10, Vol.78 (4), p.381-387

2010

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First Mutation in the Voltage-Gated Nav1.1 Subunit Gene SCN1A with Co-Occurring Familial Hemiplegic Migraine and Epilepsy

Cephalalgia, 2009-03, Vol.29 (3), p.308-313

2009

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Genetics Health Professionals’ Views on Quality of Genetic Counseling Service Provision for Presymptomatic Testing in Late-Onset Neurological Diseases in Portugal: Core Components, Specific Challenges and the Need for Assessment Tools

Journal of genetic counseling, 2015-08, Vol.24 (4), p.616-625

2015

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Huntington disease and Huntington disease-like in a case series from Brazil

Clinical genetics, 2014-10, Vol.86 (4), p.373-377

2014

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A non-force-free approach to the topology of magnetic clouds in the solar wind

Journal of Geophysical Research - Space Physics, 2002-01, Vol.107 (A1), p.SSH1-1-SSH 1-7

2002

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Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations

Neurology, 2007-04, Vol.68 (15), p.1183

2007

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Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement

Neurology, 2005-08, Vol.65 (4), p.603

2005

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Psychological aspects of pre-symptomatic testing for Machado-Joseph disease and familial amyloid polyneuropathy type I

Clinical genetics, 2006-04, Vol.69 (4), p.297-305

2006

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Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Póvoa do Varzim and Vila do Conde (north of Portugal)

American journal of medical genetics, 1995-12, Vol.60 (6), p.512-521

1995

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Characterization of movement disorders in a cohort of hereditary cerebellar ataxias

Parkinsonism & related disorders, 2024-05, Vol.122, p.106645, Article 106645

2024

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A role for endothelin receptor type A in migraine without aura susceptibility? A study in Portuguese patients

European journal of neurology, 2011-04, Vol.18 (4), p.649-655

2011

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Magnetic Clouds Observed at 1 Au During the Period 2000–2003

Solar physics, 2005-11, Vol.232 (1-2), p.105-126

2005

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The phenotypic spectra of polyQ expansion versus non-expansion forms in spinocerebellar ataxias

Parkinsonism & related disorders, 2024-05, Vol.122, p.106161, Article 106161

2024

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Huntington disease-like 2: the first patient with apparent European ancestry

Clinical genetics, 2008-05, Vol.73 (5), p.480-485

2008

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Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10

Neurology, 2006-05, Vol.66 (10), p.1602

2006

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Response to Tumas et al

Clinical genetics, 2009-02, Vol.75 (2), p.208-208, Article 208

2009

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Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M

Journal of neurology, neurosurgery and psychiatry, 2014-03, Vol.85 (3), p.326-330

2014

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Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients?

Clinical genetics, 2011-01, Vol.79 (1), p.100-102

2011

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Identification of Genetic Risk Factors for Maxillary Lateral Incisor Agenesis

Quantifying Intra-Arterial Verapamil Response as a Diagnostic Tool for Reversible Cerebral Vasoconstriction Syndrome

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal

Analysis of (CAG) n expansion in ATXN1, ATXN2 and ATXN3 in Chinese patients with multiple system atrophy

Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil

Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment

Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population

First Mutation in the Voltage-Gated Nav1.1 Subunit Gene SCN1A with Co-Occurring Familial Hemiplegic Migraine and Epilepsy

Genetics Health Professionals’ Views on Quality of Genetic Counseling Service Provision for Presymptomatic Testing in Late-Onset Neurological Diseases in Portugal: Core Components, Specific Challenges and the Need for Assessment Tools

Huntington disease and Huntington disease-like in a case series from Brazil

A non-force-free approach to the topology of magnetic clouds in the solar wind

Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations

Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement

Psychological aspects of pre-symptomatic testing for Machado-Joseph disease and familial amyloid polyneuropathy type I

Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Póvoa do Varzim and Vila do Conde (north of Portugal)

Characterization of movement disorders in a cohort of hereditary cerebellar ataxias

A role for endothelin receptor type A in migraine without aura susceptibility? A study in Portuguese patients

Magnetic Clouds Observed at 1 Au During the Period 2000–2003

The phenotypic spectra of polyQ expansion versus non-expansion forms in spinocerebellar ataxias

Huntington disease-like 2: the first patient with apparent European ancestry

Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10

Response to Tumas et al

Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M

Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients?

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