41
TITLE: Identification of novel genetic causes of Rett syndrome-like phenotypes
AUTHORS: Fatima Lopes; Mafalda Barbosa; Adam Ameur; Gabriela Soares; Joaquim de Sa; Ana Isabel Dias; Guiomar Oliveira; Pedro Cabral; Teresa Temudo; Eulalia Calado; Isabel Fineza Cruz; Jose Pedro Vieira; Renata Oliveira; Sofia Esteves; Sascha Sauer; Inger Jonasson; Ann Christine Syvanen; Ulf Gyllensten; Dalila Pinto; Patricia Maciel;
PUBLISHED: 2016, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 53, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
42
TITLE: DYSREGULATION OF THE ENDOCANNABINOID SIGNALING SYSTEM IN THE CEREBELLUM AND BRAINSTEM IN A TRANSGENIC MOUSE MODEL OF SPINOCEREBELLAR ATAXIA TYPE-3  Full Text
AUTHORS: Carmen Rodriguez Cueto; Mariluz Hernandez Galvez; Cecilia J Hillard; Patricia Maciel; Luis Garcia Garcia; Sara Valdeolivas; Miguel A Pozo; Jose A Ramos; Maria Gomez Ruiz; Javier Fernandez Ruiz;
PUBLISHED: 2016, SOURCE: NEUROSCIENCE, VOLUME: 339
INDEXED IN: Scopus WOS
43
TITLE: Differential mtDNA Damage Patterns in a Transgenic Mouse Model of Machado-Joseph Disease (MJD/SCA3)  Full Text
AUTHORS: Amanda Ramos; Nadiya Kazachkova; Francisca Silva; Patricia Maciel; Anabela Silva Fernandes; Sara Duarte Silva; Cristina Santos; Manuela Lima;
PUBLISHED: 2015, SOURCE: JOURNAL OF MOLECULAR NEUROSCIENCE, VOLUME: 55, ISSUE: 2
INDEXED IN: Scopus WOS
44
TITLE: The Role of the Mammalian DNA End-processing Enzyme Polynucleotide Kinase 3 '-Phosphatase in Spinocerebellar Ataxia Type 3 Pathogenesis  Full Text
AUTHORS: Arpita Chatterjee; Saikat Saha; Anirban Chakraborty; Anabela Silva Fernandes; Santi M Mandal; Andreia Neves Carvalho; Yongping P Liu; Raj K Pandita; Muralidhar L Hegde; Pavana M Hegde; Istvan Boldogh; Tetsuo Ashizawa; Arnulf H Koeppen; Tej K Pandita; Patricia Maciel; Partha S Sarkar; Tapas K Hazra;
PUBLISHED: 2015, SOURCE: PLOS GENETICS, VOLUME: 11, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
45
TITLE: Inactivation of PNKP by Mutant ATXN3 Triggers Apoptosis by Activating the DNA Damage-Response Pathway in SCA3  Full Text
AUTHORS: Rui Gao; Yongping P Liu; Anabela Silva Fernandes; Xiang Fang; Adriana Paulucci Holthauzen; Arpita Chatterjee; Hang L Zhang; Tohru Matsuura; Sanjeev Choudhary; Tetsuo Ashizawa; Arnulf H Koeppen; Patricia Maciel; Tapas K Hazra; Partha S Sarkar;
PUBLISHED: 2015, SOURCE: PLOS GENETICS, VOLUME: 11, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
47
TITLE: Institutionalization and indiscriminate social behavior: Differential-susceptibility versus diathesis-stress models for the 5-HTTLPR and BDNF genotypes  Full Text
AUTHORS: Mesquita, AR; Belsky, J; Li, Z; Baptista, J; Carvalho Correia, E; Maciel, P; Soares, I;
PUBLISHED: 2015, SOURCE: PHYSIOLOGY & BEHAVIOR, VOLUME: 152
INDEXED IN: Scopus WOS CrossRef
48
TITLE: Redefining the MED13L syndrome
AUTHORS: Abidemi Adegbola; Luciana Musante; Bert Callewaert; Patricia Maciel; Hao Hu; Bertrand Isidor; Sylvie Picker Minh; Cedric Le Caignec; Barbara Delle Chiaie; Olivier Vanakker; Bjorn Menten; Annelies Dheedene; Nele Bockaert; Filip Roelens; Karin Decaestecker; Joao Silva; Gabriela Soares; Fatima Lopes; Hossein Najmabadi; Kimia Kahrizi; Gerald F Cox; Steven P Angus; John F Staropoli; Ute Fischer; Vanessa Suckow; Oliver Bartsch; Andrew Chess; Hans Hilger Ropers; Thomas F Wienker; Christoph Hubner; Angela M Kaindl; Vera M Kalscheuer; ...More
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
50
TITLE: Serotonergic signalling suppresses ataxin 3 aggregation and neurotoxicity in animal models of Machado-Joseph disease  Full Text
AUTHORS: Teixeira Castro, A; Jalles, A; Esteves, S; Kang, S; Santos, LD; Silva Fernandes, A; Neto, MF; Brielmann, RM; Bessa, C; Duarte Silva, S; Miranda, A; Oliveira, S; Neves Carvalho, A; Bessa, J; Summavielle, T; Silverman, RB; Oliveira, P ; Morimoto, RI; Maciel, P;
PUBLISHED: 2015, SOURCE: BRAIN, VOLUME: 138, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef
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