| 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 | 282 | 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 | 171 | 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 | 134 | 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 | 122 | 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 | 108 | 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 | 106 | 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 | 95* | 1996 |
| 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 | 93 | 2003 |
| 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 | 86 | 2014 |
| 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 | 82 | 2009 |
| 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 | 76 | 2010 |
| 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 | 75 | 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 | 74 | 2014 |
| 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 | 69 | 2004 |
| Familial aggregation of maxillary lateral incisor agenesis T Pinho, P Maciel, C Lemos, A Sousa Journal of dental research 89 (6), 621-625, 2010 | 63 | 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, 2006 | 61 | 2006 |
| 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 | 60 | 2010 |
| Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)~ n tract P Maciel, C Gaspar, L Guimaraes, J Goto, I Lopes-Cendes, S Hayes, ... European Journal of Human Genetics 7 (2), 147-156, 1999 | 52 | 1999 |
| Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M) D Santos, T Coelho, M Alves-Ferreira, J Sequeiros, D Mendonça, I Alonso, ... European Journal of Human Genetics 24 (5), 756-760, 2016 | 49 | 2016 |
| 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 | 49 | 1991 |
Jorge SequeirosICBAS; UnIGENe and CGPP, IBMC / i3S; Universidade do PortoVerifierad e-postadress på ibmc.up.pt