11
TITLE: Psychological Well-Being and Family Satisfaction Levels Five Years After Being Confirmed as a Carrier of the Machado-Joseph Disease Mutation
AUTHORS: Carlos Gonzalez; Elisabete Gomes; Nadiya Kazachkova ; Conceicao Bettencourt; Mafalda Raposo; Teresa Taylor Kay; Patrick MacLeod; Joao Vasconcelos; Manuela Lima ;
PUBLISHED: 2012, SOURCE: GENETIC TESTING AND MOLECULAR BIOMARKERS, VOLUME: 16, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef
12
TITLE: Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report  Full Text
AUTHORS: Conceicao Bettencourt; Cristina Santos; Paula Coutinho ; Patrizia Rizzu; Joao Vasconcelos; Teresa Kay; Teresa Cymbron ; Mafalda Raposo; Peter Heutink; Manuela Lima ;
PUBLISHED: 2011, SOURCE: BMC NEUROLOGY, VOLUME: 11, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
13
TITLE: Dyskeratosis Congenita-Two Siblings with a New Missense Mutation in the DKC1 Gene. Brief Reports  Full Text
AUTHORS: JOANA DIAS COELHO; SARA LESTRE; TERESA KAY; MARIA JOÃO PAIVA LOPES; TERESA FIADEIRO; MARGARIDA APETATO;
PUBLISHED: 2011, SOURCE: Pediatric Dermatology, VOLUME: 28, ISSUE: 4
INDEXED IN: CrossRef
14
TITLE: The (CAG)(n) tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls  Full Text
AUTHORS: Conceicao Bettencourt; Cristina Santos; Rafael Montiel; Teresa Kay; Joao Vasconcelos; Patricia Maciel ; Manuela Lima ;
PUBLISHED: 2010, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 18, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
16
TITLE: Mutations in the MECP2 Gene Are Not a Major Cause of Rett Syndrome-Like or Related Neurodevelopmental Phenotype in Male Patients
AUTHORS: Minica Santos; Teresa Temudo; Teresa Kay; Ines Carrilho; Ana Medeira; Helena Cabral; Roseli Gomes; Maria Teresa Lourenco; Margarida Venancio; Eulalia Calado; Ana Moreira; Guiomar Oliveira ; Patricia Maciel ;
PUBLISHED: 2009, SOURCE: JOURNAL OF CHILD NEUROLOGY, VOLUME: 24, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
17
TITLE: Analysis of segregation patterns in Machado-Joseph disease pedigrees  Full Text
AUTHORS: Conceicao Bettencourt; Cristina Santos; Teresa Kay; Joao Vasconcelos; Manuela Lima ;
PUBLISHED: 2008, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 53, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
Page 2 of 2. Total results: 17.