| human | Q5 |
| P7893 | CIÊNCIAVITAE ID | 641B-34DE-1038 |
| P496 | ORCID iD | 0000-0001-8549-6903 |
| P3829 | Publons author ID | 2621042 |
| P1053 | ResearcherID | I-4307-2013 |
| P1153 | Scopus author ID | 14022380700 |
| P69 | educated at | Instituto de Ciências Biomédicas Abel Salazar | Q62080174 |
| Faculty of Sciences of the University of Porto | Q10279390 | ||
| P108 | employer | Institute for Molecular and Cell Biology | Q10302765 |
| Centre for Neuroscience and Cell Biology | Q5062526 | ||
| Institute of Molecular Pathology and Immunology of the University of Porto | Q6040646 | ||
| P735 | given name | Isabel | Q4218918 |
| Isabel | Q4218918 | ||
| P106 | occupation | researcher | Q1650915 |
| P21 | sex or gender | female | Q6581072 |
| Q50346732 | A Portuguese rapid-onset dystonia-parkinsonism case with atypical features |
| Q48119093 | A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal. |
| Q28251552 | A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine |
| Q54405607 | A role for endothelin receptor type A in migraine without aura susceptibility? A study in Portuguese patients. |
| Q34100691 | A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations. |
| Q36008185 | Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia |
| Q57949646 | Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations |
| Q33411293 | Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10) |
| Q34491551 | Assessing risk factors for migraine: differences in gender transmission |
| Q38080763 | Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey |
| Q44354952 | BDNF and CGRP interaction: implications in migraine susceptibility. |
| Q30416270 | Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset |
| Q45721808 | Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large Portuguese family. |
| Q35214662 | Chromosome substitution strain assessment of a Huntington's disease modifier locus |
| Q50020980 | Clinical spectrum of C9orf72 expansion in a cohort of Huntington's disease phenocopies |
| Q57949748 | Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2) |
| Q53120805 | DJ-1 linked parkinsonism (PARK7) is associated with Lewy body pathology. |
| Q92324096 | Determinants of age at onset in a Portuguese cohort of autosomal dominant spastic paraplegia |
| Q51893862 | Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients? |
| Q41733044 | EMQN Best Practice Guidelines for molecular genetic testing of SCAs. |
| Q34483947 | EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH). |
| Q35061105 | FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes |
| Q37620178 | Familial amyloid polyneuropathy in Portugal: New genes modulating age-at-onset |
| Q57949541 | Familial hemiplegic migraine due to L263V SCN1A mutation: Discordance for epilepsy between two kindreds from Douro Valley |
| Q92692819 | GNAO1 mutation presenting as dyskinetic cerebral palsy |
| Q37621910 | Genetic Contributors to Intergenerational CAG Repeat Instability in Huntington's Disease Knock-In Mice. |
| Q92726593 | Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism |
| Q36868772 | Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD. |
| Q37221971 | Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease |
| Q34340805 | Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study |
| Q34145392 | High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles |
| Q45295295 | Huntington disease and Huntington disease-like in a case series from Brazil |
| Q57949553 | Identification of Genetic Risk Factors for Maxillary Lateral Incisor Agenesis |
| Q34989746 | Interaction between γ-aminobutyric acid A receptor genes: new evidence in migraine susceptibility |
| Q45305559 | Intergenerational instability in Huntington disease: extreme repeat changes among 134 transmissions |
| Q45297024 | Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population |
| Q35966933 | Large-Scale Functional RNAi Screen in C. elegans Identifies TGF-β and Notch Signaling Pathways as Modifiers of CACNA1A. |
| Q42691767 | Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias |
| Q57949901 | Motor and cognitive deficits in the heterozygous leaner mouse, a Cav2.1 voltage-gated Ca2+ channel mutant |
| Q48347257 | Paternal transmission of subcortical band heterotopia through DCX somatic mosaicism. |
| Q28198668 | Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family |
| Q30424048 | Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset |
| Q45306693 | Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients |
| Q45304534 | Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder |
| Q91317754 | Proinflammatory and anti-inflammatory cytokines in the CSF of patients with Alzheimer's disease and their correlation with cognitive decline |
| Q47928785 | Rare Neurodegenerative Diseases: Clinical and Genetic Update. |
| Q47336511 | Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10 |
| Q42876815 | Sensory neuronopathy in ataxia with oculomotor apraxia type 2. |
| Q28088559 | Shifting the CARASIL paradigm: report of a non-Asian family and literature review |
| Q48352825 | Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil. |
| Q57258722 | Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings |
| Q43600913 | The prevalence of familial hemiplegic migraine with cerebellar ataxia and spinocerebellar ataxia type 6 in Portugal. |
| Q37058522 | Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M) |
| Q52660887 | When Decrease Aβ1-42 in CSF May Not Mean Alzheimer's Disease: Insights From Two Case Reports With Early Onset Dementia. |
| Q50091454 | mtDNA copy number associated with age of onset in familial amyloid polyneuropathy |
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