about
Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in PortugalAssessing risk factors for migraine: differences in gender transmission.Interaction between γ-aminobutyric acid A receptor genes: new evidence in migraine susceptibilityVariants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M)Familial amyloid polyneuropathy in Portugal: New genes modulating age-at-onsetOvercoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M.BDNF and CGRP interaction: implications in migraine susceptibility.Inherited and acquired risk factors and their combined effects in pediatric stroke.Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden.Familial aggregation of maxillary lateral incisor agenesis.Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice.Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population.The CAG repeat at the Huntington disease gene in the Portuguese population: insights into its dynamics and to the origin of the mutation.Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large Portuguese family.Usefulness of labial salivary gland biopsy in familial amyloid polyneuropathy Portuguese type.A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal.Psychological follow-up of presymptomatic genetic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba.mtDNA copy number associated with age of onset in familial amyloid polyneuropathy.Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Póvoa do Varzim and Vila do Conde (north of Portugal).A role for endothelin receptor type A in migraine without aura susceptibility? A study in Portuguese patients.Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene diseaseEnd-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: presentation, survival and prognostic factorsFamilial ATTR amyloidosis: microalbuminuria as a predictor of symptomatic disease and clinical nephropathyIdentification of Genetic Risk Factors for Maxillary Lateral Incisor AgenesisFamilial Clustering of Migraine: Further Evidence From a Portuguese StudyRole of the Disease in the Psychological Impact of Pre-Symptomatic Testing for SCA2 and FAP ATTRV30M: Experience with the Disease, Kinship and Gender of the Transmitting Parentand modify age-at-onset in familial amyloid polyneuropathy patientsCraniofacial repercussions in maxillary lateral incisors agenesisLarge normal alleles of ATXN2 decrease age at onset in transthyretin familial amyloid polyneuropathy Val30Met patients
P50
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P50
description
hulumtuese
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researcher
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հետազոտող
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name
Alda Sousa
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Alda Sousa
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Alda Sousa
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Alda Sousa
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Alda Sousa
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Alda Sousa
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Alda Sousa
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Alda Sousa
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Alda Sousa
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Alda Sousa
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Alda Sousa
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Alda Sousa
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Alda Sousa
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Alda Sousa
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Alda Sousa
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P106
P1153
7202484490
P21
P31
P496
0000-0001-5441-1815