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TITLE: Co-occurrence of neurofibromatosis type 1, caused by Alu insertion, and 16p13.11 microduplication  Full Text
AUTHORS: Quental, Rita; Pinho, Diana; Tkachenko, Natalia; Gonzaga, Diana; Mota, Maria do Ceu; Garrido, Cristina; Carmona, Carla; Quental, Sofia; Fortuna, Ana Maria; Soares, Celia Azevedo;
PUBLISHED: 2024, SOURCE: EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, VOLUME: 25, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
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TITLE: Early predictors of reading success in first grade  Full Text
AUTHORS: Sucena, Ana; Garrido, Cristina; Marques, Catia; Lousada, Marisa ;
PUBLISHED: 2023, SOURCE: FRONTIERS IN PSYCHOLOGY, VOLUME: 14
INDEXED IN: Scopus WOS
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TITLE: Child Friendly App for Spelling Training
AUTHORS: Ana Sucena Santos ; Ana Filipa Silva; Cristina Garrido; Catia Marques; Raquel Santos; Joao Falcao Carneiro ; Abreu, P ; Teresa Restivo;
PUBLISHED: 2020, SOURCE: INTERNATIONAL JOURNAL OF ONLINE AND BIOMEDICAL ENGINEERING, VOLUME: 16, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
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TITLE: PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression  Full Text
AUTHORS: Alejandra Darling; Sergio Aguilera Albesa; Cristina A Aisha Tello; Mercedes Serrano; Miguel Tomas; Rafael Camino Leon; Joaquin Fernandez Ramos; Adriano Jimenez Escrig; Pilar Poo; Mar O'Callaghan; Carlos Ortez; Andres Nascimento; Ramon Candau F Fernandez Mesaque; Marcos Madruga; Luisa Arrabal; Susana Roldan; Hilario Gomez Martin; Cristina Garrido; Teresa Temudo; Cristina Jou Munoz; Jordi Muchart; Thierry A G M Huisman; Andrea Poretti; Vincenzo Lupo; Carmen Espinos; Belen Perez Duenas; ...More
PUBLISHED: 2019, SOURCE: PARKINSONISM & RELATED DISORDERS, VOLUME: 61
INDEXED IN: Scopus WOS
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TITLE: Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients
AUTHORS: Joana Martins; Alejandra Darling; Cristina Garrido; Carmen Espinos; Maria J Jose Marti; Belen P Perez Duenas; Teresa Temudo;
PUBLISHED: 2019, SOURCE: MOVEMENT DISORDERS CLINICAL PRACTICE, VOLUME: 6, ISSUE: 8
INDEXED IN: Scopus WOS
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TITLE: Refractory epilepsy in Norrie disease  Full Text
AUTHORS: Goncalo Cacao; Cristina Garrido; Vasco Miranda; Jorge Pinto Basto; Joao Chaves; Rui Chorao;
PUBLISHED: 2018, SOURCE: NEUROLOGICAL SCIENCES, VOLUME: 39, ISSUE: 9
INDEXED IN: WOS
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TITLE: HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign genera lized epilepsy and beyond  Full Text
AUTHORS: Carla Marini; Alessandro Porro; Agnes Rastetter; Carine Dalle; Ilaria Rivolta; Daniel Bauer; Renske Oegema; Caroline Nava; Elena Parrini; Davide Mei; Catherine Mercer; Radhika Dhamija; Chelsea Chambers; Christine Coubes; Julien Thevenon; Paul Kuentz; Sophie Julia; Laurent Pasquier; Christele Dubourg; Wilfrid Carre; Anna Rosati; Federico Melani; Tiziana Pisano; Maria Giardino; Micheil M Innes; Yves Alembik; Sophie Scheidecker; Manuela Santos; Sonia Figueiroa; Cristina Garrido; Carlo Fusco; Daniele Frattini; Carlotta Spagnoli; Anna Binda; Tiziana Granata; Francesca Ragona; Elena Freri; Silvana Franceschetti; Laura Canafoglia; Barbara Castellotti; Cinzia Gellera; Raffaella Milanesi; Maria Margherita Mancardi; Damien R Clark; Fernando Kok; Katherine L Helbig; Shoji Ichikawa; Laurie Sadler; Jana Neupauerova; Petra Lassuthova; Katalin Sterbova; Annick Laridon; Eva Brilstra; Bobby Koeleman; Johannes R Lemke; Federico Zara; Pasquale Striano; Julie Soblet; Guillaume Smits; Nicolas Deconinck; Andrea Barbuti; Dario DiFrancesco; Eric LeGuern; Renzo Guerrini; Bina Santoro; Kay Hamacher; Gerhard Thiel; Anna Moroni; Jacopo C DiFrancesco; Christel Depienne; ...More
PUBLISHED: 2018, SOURCE: BRAIN, VOLUME: 141, ISSUE: 11
INDEXED IN: Scopus WOS
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TITLE: Enterovirus 71 Meningoencephalitis With Extensive White Matter Damage
AUTHORS: Joana Correia; Jose Eduardo Alves; Paula Ferreira; Manuela Ferreira; Paula Pires; Cristina Garrido;
PUBLISHED: 2016, SOURCE: PEDIATRIC INFECTIOUS DISEASE JOURNAL, VOLUME: 35, ISSUE: 11
INDEXED IN: Scopus WOS
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TITLE: D-Bifunctional Protein Deficiency: A Cause of Neonatal Onset Seizures and Hypotonia  Full Text
AUTHORS: Joao Nascimento; Ceu Mota; Lucia Lacerda; Sara Pacheco; Rui Chorao; Esmeralda Martins ; Cristina Garrido;
PUBLISHED: 2015, SOURCE: PEDIATRIC NEUROLOGY, VOLUME: 52, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef