Search Results - "Sousa, Alda"

A review of migraine genetics: gathering genomic and transcriptomic factors by Dias, Andreia, Mariz, Tiago, Sousa, Alda, Lemos, Carolina, Alves-Ferreira, Miguel

“…Migraine is a common and complex neurologic disorder that affects approximately 15–18% of the general population. Although the cause of migraine is unknown,…”
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Large normal alleles of ATXN2 decrease age at onset in transthyretin familial amyloid polyneuropathy Val30Met patients by Santos, Diana, Coelho, Teresa, Alves‐Ferreira, Miguel, Sequeiros, Jorge, Mendonça, Denisa, Alonso, Isabel, Sousa, Alda, Lemos, Carolina

“…Objective Transthyretin (TTR)‐related familial amyloid polyneuropathy (FAP) is an autosomal dominant neurological disease, caused most frequently by a Val30Met…”
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A genetic interaction of NRXN2 with GABRE, SYT1 and CASK in migraine patients: a case-control study by Alves-Ferreira, Miguel, Quintas, Marlene, Sequeiros, Jorge, Sousa, Alda, Pereira-Monteiro, José, Alonso, Isabel, Neto, João Luís, Lemos, Carolina

“…Background Migraine is a multifactorial disorder that is more frequent (two to four times) in women than in men. In recent years, our research group has…”
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Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M) by Santos, Diana, Coelho, Teresa, Alves-Ferreira, Miguel, Sequeiros, Jorge, Mendonça, Denisa, Alonso, Isabel, Lemos, Carolina, Sousa, Alda

“…Familial amyloid polyneuropathy (FAP) ATTRV30M is a neurodegenerative disorder due to point mutations in the transthyretin gene, with V30M being the commonest…”
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Interaction between γ-aminobutyric acid A receptor genes: new evidence in migraine susceptibility by Quintas, Marlene, Neto, João Luís, Pereira-Monteiro, José, Barros, José, Sequeiros, Jorge, Sousa, Alda, Alonso, Isabel, Lemos, Carolina

“…Migraine is a common neurological episodic disorder with a female-to-male prevalence 3- to 4-fold higher, suggesting a possible X-linked genetic component. Our…”
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Assessing risk factors for migraine: differences in gender transmission by Lemos, Carolina, Alonso, Isabel, Barros, José, Sequeiros, Jorge, Pereira-Monteiro, José, Mendonça, Denisa, Sousa, Alda

“…Our aim was to assess which specific factors are contributing to an increased risk of migraine in a group of 131 Portuguese families. We studied 319…”
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A High Methylation Level of a Novel -284 bp CpG Island in the RAMP1 Gene Promoter Is Potentially Associated with Migraine in Women by Carvalho, Estefânia, Dias, Andreia, Sousa, Alda, Lopes, Alexandra M, Martins, Sandra, Pinto, Nádia, Lemos, Carolina, Alves-Ferreira, Miguel

“…Migraine is a complex neurovascular disorder affecting one billion people worldwide, mainly females. It is characterized by attacks of moderate to severe…”
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C1QA and C1QC modify age‐at‐onset in familial amyloid polyneuropathy patients by Dias, Andreia, Santos, Diana, Coelho, Teresa, Alves‐Ferreira, Miguel, Sequeiros, Jorge, Alonso, Isabel, Sousa, Alda, Lemos, Carolina

“…Objectives Transthyretin (TTR) familial amyloid polyneuropathy (FAP) (OMIM 176300) shows a variable age‐at‐onset (AO), including within families. We…”
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Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease by Soares, Miguel L., Coelho, Teresa, Sousa, Alda, Batalov, Serge, Conceição, Isabel, Sales-Luís, Maria L., Ritchie, Marylyn D., Williams, Scott M., Nievergelt, Caroline M., Schork, Nicholas J., Saraiva, Maria João, Buxbaum, Joel N.

“…Familial amyloid polyneuropathy type I is an autosomal dominant disorder caused by mutations in the transthyretin (TTR) gene; however, carriers of the same…”
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Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Póvoa do Varzim and Vila do Conde (north of Portugal) by Sousa, A, Coelho, T, Barros, J, Sequeiros, J

“…Familial amyloidotic polyneuropathy (FAP-type I) was first described in Portugal by Andrade in 1952, a time when 54 among 64 patients (belonging to 25…”
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The CAG repeat at the Huntington disease gene in the Portuguese population: insights into its dynamics and to the origin of the mutation by Costa, Maria do Carmo, Magalhães, Paula, Guimarães, Laura, Maciel, P., Sequeiros, Jorge, Sousa, Alda

“…Huntington disease (HD) is caused by an expansion of a CAG repeat. This repeat is a dynamic mutation that tends to undergo intergenerational instability. We…”
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Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden by LUZ SOARES, Miguel, COELHO, Teresa, SOUSA, Alda, HOLMGREN, Gösta, JOAO SARAIVA, Maria, KASTNER, Daniel L, BUXBAUM, Joel N

“…Familial amyloid polyneuropathy (FAP) is a lethal autosomal dominant disorder in which fibrils derived from mutant forms of transthyretin (TTR), the normal…”
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Psychological Follow‐up of Presymptomatic Genetic Testing for Spinocerebellar Ataxia Type 2 (SCA2) in Cuba by Paneque, Milena, Lemos, Carolina, Escalona, Karell, Prieto, Lizandra, Reynaldo, Rubén, Velázquez, Mercedes, Quevedo, Judith, Santos, Nieves, Almaguer, Luis Enrique, Velázquez, Luis, Sousa, Alda, Fleming, Manuela, Sequeiros, Jorge

“…Presymptomatic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba started five years ago. We have now investigated the psychological impact of test…”
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Hereditary transthyretin amyloidosis: a myriad of factors that influence phenotypic variability by Carvalho, Estefânia, Dias, Andreia, Coelho, Teresa, Sousa, Alda, Alves-Ferreira, Miguel, Santos, Mariana, Lemos, Carolina

“…Hereditary transthyretin-related amyloidosis (ATTRv amyloidosis) is a rare and progressively debilitating disease characterized by the deposition of…”
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POLÍTICAS PÚBLICAS PARA O ENSINO MÉDIO: em análise a escola de tempo integral regular by Maria Alda de Sousa Alves, Marciana Silva de Oliveira

“…The paper discusses the regular full-time school as coming from the new policies for high school, considering its expansion in the state of Ceará. Using…”
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A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal by Alves-Ferreira, Miguel, Coelho, Teresa, Santos, Diana, Sequeiros, Jorge, Alonso, Isabel, Sousa, Alda, Lemos, Carolina

“…Although all familial amyloid polyneuropathy (FAP) ATTRV30M patients carry the same causative mutation, early (<40) and late-onset forms (≥50 years) of FAP may…”
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mtDNA copy number associated with age of onset in familial amyloid polyneuropathy by Santos, Diana, Santos, Maria João, Alves-Ferreira, Miguel, Coelho, Teresa, Sequeiros, Jorge, Alonso, Isabel, Oliveira, Pedro, Sousa, Alda, Lemos, Carolina, Grazina, Manuela

“…BackgroundTransthyretin-related familial amyloid polyneuropathy (TTR-FAP Val30Met) shows a wide variation in age-at-onset (AO) between generations and genders,…”
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Going Deep into Synaptic Vesicle Machinery Genes and Migraine Susceptibility – A Case‐Control Association Study by Quintas, Marlene, Neto, João Luís, Sequeiros, Jorge, Sousa, Alda, Pereira‐Monteiro, José, Lemos, Carolina, Alonso, Isabel

“…Objective A number of observations, including among our study population, have implicated variants in the syntaxin‐1A, a component of the synaptic vesicles, in…”
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Functional characterization of a novel PRRT2 variant found in a Portuguese patient with hemiplegic migraine by Dias, Andreia, Santos, Mariana, Carvalho, Estefânia, Felício, Daniela, Silva, Paulo, Alves, Ivânia, Pinho, Teresa, Sousa, Alda, Alves‐Ferreira, Miguel, Lemos, Carolina

“…Familial hemiplegic migraine (FHM) is a rare autosomal‐dominant form of migraine with aura. Three disease‐causing genes have been identified for FHM: CACNA1A,…”
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Beyond Val30Met transthyretin (TTR): variants associated with age-at-onset in hereditary ATTRv amyloidosis by Alves-Ferreira, Miguel, Azevedo, Ana, Coelho, Teresa, Santos, Diana, Sequeiros, Jorge, Alonso, Isabel, Sousa, Alda, Lemos, Carolina

“…V30M in transthyretin (TTR) gene is causative for hereditary ATTRv amyloidosis (familial amyloid polyneuropathy). ATTRv amyloidosis shows a wide variation in…”
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