Publications by authors named "Teresa Kay"

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Blood DDIT4 and TRIM13 Transcript Levels Mark the Early Stages of Machado-Joseph Disease.
Ana F Ferreira, Mafalda Raposo, Emily D Shaw, Louisa Liu, João Vasconcelos, Teresa Kay

Ann Neurol· July 2025

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Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph disease.
Ahmed M Sidky, Ana Rosa Vieira Melo, Teresa T Kay, Mafalda Raposo, Manuela Lima

Hum Genet· November 2024

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Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease.
Mafalda Raposo, Jeannette Hübener-Schmid, Rebecca Tagett, Ana F Ferreira, Ana Rosa Vieira Melo, Teresa Kay

Neurobiol Dis· April 2024

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Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3.
Mafalda Raposo, Jeannette Hübener-Schmid, Ana F Ferreira, Ana Rosa Vieira Melo, João Vasconcelos, Teresa Kay

Brain· October 2023

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Tissue-Specific Vulnerability to Apoptosis in Machado-Joseph Disease.
Ana F Ferreira, Mafalda Raposo, Emily D Shaw, Naila S Ashraf, Filipa Medeiros, Teresa Kay

Cells· May 2023

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The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research.
Manuela Lima, Mafalda Raposo, Ana Ferreira, Ana Rosa Vieira Melo, Sara Pavão, Teresa Kay

Biomedicines· January 2023

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Early onset obesity due to a mutation in the human leptin receptor gene.
Carolina Chaves, Teresa Kay, João Anselmo

Endocrinol Diabetes Metab Case Rep· August 2022

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Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing.
Mafalda Raposo, Conceição Bettencourt, Ana Rosa Vieira Melo, Ana F Ferreira, Isabel Alonso, Teresa Kay

Neurobiol Dis· January 2022

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Promoter Variation and Expression Levels of Inflammatory Genes IL1A, IL1B, IL6 and TNF in Blood of Spinocerebellar Ataxia Type 3 (SCA3) Patients.
Mafalda Raposo, Conceição Bettencourt, Amanda Ramos, Nadiya Kazachkova, João Vasconcelos, Teresa Kay

Neuromolecular Med· March 2017

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Triplet Repeat Primed PCR (TP-PCR) in Molecular Diagnostic Testing for Spinocerebellar Ataxia Type 3 (SCA3).
Ana Rosa Vieira Melo, Amanda Ramos, Nadiya Kazachkova, Mafalda Raposo, Bruno Filipe Bettencourt, Teresa Kay

Mol Diagn Ther· December 2016

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Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease.
Mafalda Raposo, Conceição Bettencourt, Patrícia Maciel, Fuying Gao, Amanda Ramos, Teresa Kay

Mov Disord· June 2015

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Nystagmus as an early ocular alteration in Machado-Joseph disease (MJD/SCA3).
Mafalda Raposo, João Vasconcelos, Conceição Bettencourt, Teresa Kay, Paula Coutinho

BMC Neurol· January 2014

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Nonoptical massive parallel DNA sequencing of BRCA1 and BRCA2 genes in a diagnostic setting.
José Luis Costa, Sónia Sousa, Ana Justino, Teresa Kay, Susana Fernandes

Hum Mutat· April 2013

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Sequence analysis of 5' regulatory regions of the Machado-Joseph disease gene (ATXN3).
Conceição Bettencourt, Mafalda Raposo, Nadiya Kazachkova, Cristina Santos, Teresa Kay

Cerebellum· December 2012

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Psychological well-being and family satisfaction levels five years after being confirmed as a carrier of the Machado-Joseph disease mutation.
Carlos Gonzalez, Elisabete Gomes, Nadiya Kazachkova, Conceição Bettencourt, Mafalda Raposo, Teresa Taylor Kay

Genet Test Mol Biomarkers· December 2012

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Dyskeratosis congenita--two siblings with a new missense mutation in the DKC1 gene.
Joana Dias Coelho, Sara Lestre, Teresa Kay, Maria João Paiva Lopes, Teresa Fiadeiro

Pediatr Dermatol· December 2011

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The APOE ε2 allele increases the risk of earlier age at onset in Machado-Joseph disease.
Conceição Bettencourt, Mafalda Raposo, Nadiya Kazachkova, Teresa Cymbron, Cristina Santos, Teresa Kay

Arch Neurol· December 2011

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Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report.
Conceição Bettencourt, Cristina Santos, Paula Coutinho, Patrizia Rizzu, João Vasconcelos, Teresa Kay

BMC Neurol· October 2011

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Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3).
Conceição Bettencourt, Cristina Santos, Rafael Montiel, Maria do Carmo Costa, Pablo Cruz-Morales, Teresa Kay

Neurogenetics· May 2010

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The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls.
Conceição Bettencourt, Cristina Santos, Rafael Montiel, Teresa Kay, João Vasconcelos

Eur J Hum Genet· May 2010

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Mutation of the MIF type II receptor in two brothers.
Margarida Rosal-Gonçalves, Catarina Almeida, José Barber, Teresa Kay, Catarina Limbert

J Pediatr Endocrinol Metab· March 2010

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Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients.
Mónica Santos, Teresa Temudo, Teresa Kay, Inês Carrilho, Ana Medeira

J Child Neurol· January 2009

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Analysis of segregation patterns in Machado-Joseph disease pedigrees.
Conceição Bettencourt, Cristina Santos, Teresa Kay, João Vasconcelos, Manuela Lima

J Hum Genet· November 2008

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CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions.
Ana Friães, Ana Toste Rêgo, José Maria Aragüés, Luís Francisco Moura, Alice Mirante, Teresa Taylor Kay

Mol Genet Metab· May 2006

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Short-term psychological impact of predictive testing for Machado-Joseph disease: depression and anxiety levels in individuals at risk from the Azores (Portugal).
Carlos Gonzalez, Manuela Lima, Teresa Kay, Catarina Silva, Cristina Santos

Community Genet· May 2005

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