Alda Sousa - Dissemin

Papers authored by Alda Sousa

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2010 J. Sequeiros, Em Ramos, J. Cerqueira, Mc Costa, A. Sousa

, J. Pinto-Basto, I. Alonso

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

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Carolina Lemos, Denisa Mendonca, José Pereira-Monteiro, José Barros, Jorge Sequeiros, Isabel Alonso, Alda Sousa

BDNF and CGRP interaction: Implications in migraine susceptibility

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Patricia Maciel, Teresa Pinho

, Carolina Lemos, Alda Sousa

Familial aggregation of maxillary lateral incisor agenesis

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Carolina Lemos, José Pereira-Monteiro, Denisa Mendonça, Eliana Marisa Ramos, José Barros, Jorge Sequeiros, Isabel Alonso, Alda Sousa

Evidence of Syntaxin 1A Involvement in Migraine Susceptibility

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2009 Barbas do Amaral, Barbas Do Amaral, T. Coelho, Alda Sousa

, A. Guimarães

Usefulness of labial salivary gland biopsy in familial amyloid polyneuropathy Portuguese type

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Milena Paneque

, Carolina Lemos, Alda Sousa

, Luis Velázquez, Manuela Fleming, Jorge Sequeiros

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

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Carolina Lemos, Maria-José Castro, José Barros, Jorge Sequeiros, José Pereira-Monteiro, Denisa Mendonça, Alda Sousa

Familial Clustering of Migraine: Further Evidence From a Portuguese Study

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2008 Anabela Ferro, Maria-José Castro, Carolina Lemos, Mónica Santos, Alda Sousa

, José Pereira-Monteiro, Jorge Sequeiros, Patrícia Maciel

The C677T Polymorphism in MTHFR Is Not Associated with Migraine in Portugal

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2007 Milena Paneque

, Carolina Lemos, Karell Escalona, Lizandra Prieto, Rubén Reynaldo, Mercedes Velázquez, Judith Quevedo, Nieves Santos, Luis Enrique Almaguer, Luis Velázquez, Alda Sousa

, Manuela Fleming, Jorge Sequeiros

Psychological Follow-up of Presymptomatic Genetic Testing for Spinocerebellar Ataxia Type 2 (SCA2) in Cuba

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

2006 A. Sousa

Genetic epidemiology of familial amyloid polyneuropathy,Epidemiologia genética da polineuropatia amiloidótica familiar

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2005 Maria do Carmo Costa, Paula Magalhães, Laura Guimarães

, Patrícia Maciel, Jorge Sequeiros, Alda Sousa

The CAG repeat at the Huntington disease gene in the Portuguese population : insights into its dynamics and to the origin of the mutation

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M. Lima, M. C. Costa, R. Montiel, A. Ferro, C. Santos, C. Silva, C. Bettencourt, A. Sousa

, J. Sequeiros, P. Coutinho, P. Maciel

Population Genetics of Wild-Type CAG Repeats in the <i>Machado-Joseph Disease</i> Gene in Portugal

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2004 Teresa Coelho, Miguel L. Soares

, Alda Sousa

, Serge Batalov

, Isabel Conceição, Maria L. Sales Luís, Marylyn D. Ritchie, Scott M. Williams, Caroline M. Nievergelt, Nicholas J. Schork, Maria João Saraiva, Joel N. Buxbaum

Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: Complexity in a single-gene disease

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Distributing this paper is prohibited by the publisher

Luísa Lobato, Idalina Beirão, Manuela Silva, Isabel Fonseca

, José Queirós, Guilherme Rocha, António Morais Sarmento, Alda Sousa

, Jorge Sequeiros

End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: presentation, survival and prognostic factors

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2003 Miguel Luz Soares

, Teresa Coelho, Alda Sousa

, Gösta Holmgren, Maria João Saraiva, Daniel L. Kastner, Joel N. Buxbaum

Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: Genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden

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Manuela Silva, Frederico Silvestre, Alda Sousa

, Laure-Hélène Noël, Jorge Sequeiros, Idalina Beirão, Fernanda Bravo, Luísa Lobato, Serafim Guimarães

Familial ATTR amyloidosis: Microalbuminuria as a predictor of symptomatic disease and clinical nephropathy

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Sameiro Barreirinho, E. lísio Costa, Anabela Ferro, Manuela Santos, E. lísio Costa

, Jorge Pinto-Basto, Alda Sousa

, Jorge Sequeiros, Patricia Maciel, Clara Barbot, José Barbot

Inherited and acquired risk factors and their combined effects in pediatric stroke

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Maria Do, Mc Costa, Maria do Carmo Costa, Paula Magalhães, Fátima Ferreirinha, Laura Guimarães

, Cristina Januário, Isabel Gaspar, Leal Loureiro

, José Vale, Carolina Garrett, Fj Regateiro, Marina Magalhães, Alda Sousa

, Patrícia Maciel and 1 other authors

Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice

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1999 Miguel Soares

, Joel Buxbaum, Giorgio Sirugo, Teresa Coelho, Alda Sousa

, Daniel Kastner, Maria João Saraiva

Genetic anticipation in Portuguese kindreds with familial amyloidotic polyneuropathy is unlikely to be caused by triplet repeat expansions

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Patrícia Maciel, C. Caspar, Claudia Gaspar, Laura Guimarães

, Jun Goto, Iscia Lopes-Cendes, Sean Hayes, Karin Arvidsson, Aureliano Dias, Jorge Sequeiros, Alda Sousa

, Guy A. Rouleau

Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract

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Papers authored by Alda Sousa