Alda Sousa - Dissemin

All papers authored by Alda Sousa

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2024 Estefânia Carvalho

, Andreia Dias

, Teresa Coelho, Alda Sousa

, Miguel Alves-Ferreira

, Mariana Santos

, Carolina Lemos

Hereditary transthyretin amyloidosis: a myriad of factors that influence phenotypic variability

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2023 Andreia Dias, Mariana Santos, Estefânia Carvalho, Daniela Felício, Paulo Silva, Ivânia Alves, Teresa Pinho

, Alda Sousa

, Miguel Alves‐Ferreira, Carolina Lemos

Functional characterization of a novel PRRT2 variant found in a Portuguese patient with hemiplegic migraine

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2022 Estefânia Carvalho

, Andreia Dias

, Alda Sousa

, Alexandra M. Lopes, Sandra Martins, Nádia Pinto, Carolina Lemos, Miguel Alves-Ferreira

A High Methylation Level of a Novel −284 bp CpG Island in the RAMP1 Gene Promoter Is Potentially Associated with Migraine in Women

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2021 Andreia Dias, Tiago Mariz, Alda Sousa

, Carolina Lemos, Miguel Alves-Ferreira

A review of migraine genetics: gathering genomic and transcriptomic factors

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Miguel Alves-Ferreira, Marlene Quintas, Jorge Sequeiros, Alda Sousa

, José Pereira-Monteiro, Isabel Alonso, João Luís Neto, Carolina Lemos

A genetic interaction of NRXN2 with GABRE, SYT1 and CASK in migraine patients: a case-control study

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Miguel Alves-Ferreira

, Ana Azevedo

, Teresa Coelho, Diana Santos

, Jorge Sequeiros

, Isabel Alonso

, Alda Sousa

, Carolina Lemos

Beyond Val30Met transthyretin (TTR): variants associated with age-at-onset in hereditary ATTRv amyloidosis

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2020 Marlene Quintas, João Luís Neto, Jorge Sequeiros, Alda Sousa

, José Pereira‐Monteiro, Carolina Lemos, Isabel Alonso

Going Deep into Synaptic Vesicle Machinery Genes and Migraine Susceptibility – A Case‐Control Association Study

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2019 Andreia Dias, Diana Santos, Teresa Coelho, Miguel Alves‐Ferreira, Jorge Sequeiros, Isabel Alonso, Alda Sousa

, Carolina Lemos

C1QA and C1QC modify age‐at‐onset in familial amyloid polyneuropathy patients

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Diana Santos, Teresa Coelho, Miguel Alves-Ferreira, Jorge Sequeiros, Denisa Mendonça, Isabel Alonso, Alda Sousa

, Carolina Lemos

Large normal alleles of ATXN2 decrease age at onset in transthyretin familial amyloid polyneuropathy Val30Met patients

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2017 Diana Santos, Maria João Santos, Miguel Alves-Ferreira, Teresa Coelho, Jorge Sequeiros, Isabel Alonso, Pedro Oliveira, Alda Sousa

, Carolina Lemos, Manuela Grazina

mtDNA copy number associated with age of onset in familial amyloid polyneuropathy

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Miguel Alves-Ferreira, Teresa Coelho, Diana Santos, Jorge Sequeiros, Isabel Alonso, Alda Sousa

, Carolina Lemos

A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal

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2016 Diana Santos, Teresa Coelho, Miguel Alves-Ferreira, Jorge Sequeiros, Denisa Mendonça, Isabel Alonso, Carolina Lemos, Alda Sousa

Familial amyloid polyneuropathy in Portugal: New genes modulating age-at-onset

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2015 Diana Santos, Teresa Coelho, Miguel Alves-Ferreira, Jorge Sequeiros, Denisa Mendonça, Isabel Alonso, Carolina Lemos

, Alda Sousa

Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M)

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2014 M. Alves Ferreira, T. Pinho

, A. Sousa

, J. Sequeiros, C. Lemos, I. Alonso

Identification of Genetic Risk Factors for Maxillary Lateral Incisor Agenesis

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2013 C. Lemos, T. Coelho, M. Alves-Ferreira, A. Martins-Da-Silva, J. Sequeiros, D. Mendonca, A. Sousa

Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M

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Marlene Quintas, João Luís Neto, José Pereira-Monteiro, José Barros, Jorge Sequeiros, Alda Sousa

, Isabel Alonso, Carolina Lemos

Interaction between γ-Aminobutyric Acid A Receptor Genes: New Evidence in Migraine Susceptibility

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José Barros, Joana Damásio, Assunção Tuna, Ivânia Alves, Isabel Silveira, José Pereira-Monteiro, Jorge Sequeiros, Isabel Alonso, Alda Sousa

, Paula Coutinho

Cerebellar Ataxia, Hemiplegic Migraine, and Related Phenotypes Due to a CACNA1A Missense Mutation

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2012 Carolina Lemos, Isabel Alonso, José Barros, Jorge Sequeiros, José Pereira-Monteiro, Denisa Mendonça, Alda Sousa

Assessing Risk Factors for Migraine: Differences in Gender Transmission

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2011 Teresa Pinho

, Cristina Pollmann, Maria João Calheiros-Lobo, Alda Sousa

, Carolina Lemos

Craniofacial repercussions in maxillary lateral incisors agenesis

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2010 C. Lemos, J. L. Neto, J. Pereira-Monteiro, D. Mendonça, J. Barros, J. Sequeiros, I. Alonso, A. Sousa

A role for endothelin receptor type A in migraine without aura susceptibility? A study in Portuguese patients

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All papers authored by Alda Sousa