Alda Sousa
Alda Sousa
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Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)‐type I in Póvoa do Varzim and Vila do Conde (north of Portugal)
A Sousa, T Coelho, J Barros, J Sequeiros
American journal of medical genetics 60 (6), 512-521, 1995
Familial amyloidotic polyneuropathy in Sweden: geographical distribution, age of onset, and prevalence
A Sousa, R Andersson, U Drugge, G Holmgren, O Sandgren
Human heredity 43 (5), 288-294, 1993
Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease
ML Soares, T Coelho, A Sousa, S Batalov, I Conceicao, ML Sales-Luís, ...
Human molecular genetics 14 (4), 543-553, 2005
A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected.
T Coelho, A Sousa, E Lourenco, J Ramalheira
Journal of medical genetics 31 (4), 293-299, 1994
Inherited and acquired risk factors and their combined effects in pediatric stroke
S Barreirinho, A Ferro, M Santos, E lísio Costa, J Pinto-Basto, A Sousa, ...
Pediatric neurology 28 (2), 134-138, 2003
Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis.
U Drugge, R Andersson, F Chizari, M Danielsson, G Holmgren, ...
Journal of medical genetics 30 (5), 388-392, 1993
Compound heterozygotes of transthyretin Met30 and transthyretin Met119 are protected from the devastating effects of familial amyloid polyneuropathy
T Coelho, R Chorao, A Sousa, I Alves, MF Torres, MJM Saraiva
Neuromuscular Disorders 6, S20, 1996
Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype–phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and …
ML Soares, T Coelho, A Sousa, G Holmgren, MJ Saraiva, DL Kastner, ...
European journal of human genetics 12 (3), 225-237, 2004
Large normal and reduced penetrance alleles in Huntington disease: Instability in families and frequency at the laboratory, at the clinic and in the population
IA J Sequeiros, EM Ramos, J Cerqueira, MC Costa, A Sousa, J Pinto-Basto
Clinical Genetics 78 (4), 381-387, 2010
Familial ATTR amyloidosis: microalbuminuria as a predictor of symptomatic disease and clinical nephropathy
L Lobato, I Beirao, M Silva, F Bravo, F Silvestre, S Guimarães, A Sousa, ...
Nephrology Dialysis Transplantation 18 (3), 532-538, 2003
Usefulness of labial salivary gland biopsy in familial amyloid polyneuropathy Portuguese type
B Do Amaral, T Coelho, A Sousa, A Guimarães
Amyloid 16 (4), 232-238, 2009
End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: presentation, survival and prognostic factors
L Lobato, I Beirão, M Silva, I Fonseca, J Queirós, G Rocha, AM Sarmento, ...
Amyloid 11 (1), 27-37, 2004
Identification of genetic risk factors for maxillary lateral incisor agenesis
M Alves-Ferreira, T Pinho, A Sousa, J Sequeiros, C Lemos, I Alonso
Journal of dental research 93 (5), 452-458, 2014
Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M
C Lemos, T Coelho, M Alves-Ferreira, A Martins-da-Silva, J Sequeiros, ...
Journal of Neurology, Neurosurgery & Psychiatry 85 (3), 326-330, 2014
BDNF and CGRP interaction: implications in migraine susceptibility
C Lemos, D Mendonça, J Pereira-Monteiro, J Barros, J Sequeiros, ...
Cephalalgia 30 (11), 1375-1382, 2010
Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal
M Lima, MC Costa, R Montiel, A Ferro, C Santos, C Silva, C Bettencourt, ...
Human heredity 60 (3), 156-163, 2005
Familial aggregation of maxillary lateral incisor agenesis
T Pinho, P Maciel, C Lemos, A Sousa
Journal of dental research 89 (6), 621-625, 2010
Vitreous involvement in familial amyloidotic neuropathy: a genealogical and genetic study
O Sandgren, U Drugge, G Holmgren, A Sousa
Clinical genetics 40 (6), 452-460, 1991
Familial clustering of migraine: further evidence from a Portuguese study
C Lemos, MJ Castro, J Barros, J Sequeiros, J Pereira‐Monteiro, ...
Headache: The Journal of Head and Face Pain 49 (3), 404-411, 2009
Role 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 parent
M Paneque, C Lemos, A Sousa, L Velázquez, M Fleming, J Sequeiros
Journal of genetic counseling 18 (5), 483-493, 2009
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