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TITLE: Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
AUTHORS: van de Kamp, JM; Betsalel, OT; Mercimek Mahmutoglu, S; Abulhoul, L; Gruenewald, S; Anselm, I; Azzouz, H; Bratkovic, D; de Brouwer, A; Hamel, B; Kleefstra, T; Yntema, H; Campistol, J; Vilaseca, MA; Cheillan, D; D'Hooghe, M; Diogo, L; Garcia, P; Valongo, C; Fonseca, M; Frints, S; Wilcken, B; von der Haar, S; Meijers Heijboer, HE; Hofstede, F; Johnson, D; Kant, SG; Lion Francois, L; Pitelet, G; Longo, N; Maat Kievit, JA; Monteiro, JP; Munnich, A; Muntau, AC; Nassogne, MC; Osaka, H; Ounap, K; Pinard, JM; Quijano Roy, S; Poggenburg, I; Poplawski, N; Abdul Rahman, O; Ribes, A; Arias, A; Yaplito Lee, J; Schulze, A; Schwartz, CE; Schwenger, S; Soares, G; Sznajer, Y; Valayannopoulos, V; Van Esch, H; Waltz, S; Wamelink, MMC; Pouwels, PJW; Errami, A; van der Knaap, MS; Jakobs, C; Mancini, GM; Salomons, GS; ...More
PUBLISHED: 2013, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 50, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 41
52
TITLE: Functional interaction between pre-synaptic α6β2-containing nicotinic and adenosine A 2A receptors in the control of dopamine release in the rat striatum . Striatal A 2A receptors control α6β2*nACh receptors   Full Text
AUTHORS: Garção, P; Szabó, EC; Wopereis, S; Castro, AA; Â R Tomé; Prediger, RD; Cunha, RA; Agostinho, P; Köfalvi, A;
PUBLISHED: 2013, SOURCE: British Journal of Pharmacology - Br J Pharmacol, VOLUME: 169, ISSUE: 7
INDEXED IN: CrossRef: 11
IN MY: ORCID
53
TITLE: Juvenile Pompe Disease: Retrospective Clinical Study  Full Text
AUTHORS: Filipa Loureiro Neves; Paula Cristina Garcia; Nuria Madureira; Henriqueta Araujo; Fidjy Rodrigues; Maria Helena Estevao; Lucia Lacerda; Luisa Maria Diogo Matos;
PUBLISHED: 2013, SOURCE: ACTA MEDICA PORTUGUESA, VOLUME: 26, ISSUE: 4
INDEXED IN: WOS
54
TITLE: Mitochondrial DNA 8993T > G Mutation in a Child With Ornithine Transcarbamylase Deficiency and Leigh Syndrome: An Unexpected Association
AUTHORS: Margarida Henriques; Luisa Diogo; Paula Garcia; Joao Pratas; Marta Simoes; Manuela Grazina ;
PUBLISHED: 2012, SOURCE: JOURNAL OF CHILD NEUROLOGY, VOLUME: 27, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 4
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TITLE: Phenotypic Variability in a Portuguese Family With X-Linked Creatine Transport Deficiency  Full Text
AUTHORS: Paula Garcia; Fidjy Rodrigues; Carla Valongo; Gajja S Salomons; Luisa Diogo;
PUBLISHED: 2012, SOURCE: PEDIATRIC NEUROLOGY, VOLUME: 46, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 5
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TITLE: Blockade of adenosine A2A receptors prevents interleukin-1β-induced exacerbation of neuronal toxicity through a p38 mitogen-activated protein kinase pathway  Full Text
AUTHORS: Ana Simões; João A Duarte; Fabienne Agasse; Paula Canas; Angelo R Tomé; Paula Agostinho; Rodrigo A Cunha;
PUBLISHED: 2012, SOURCE: Journal of Neuroinflammation - J Neuroinflammation, VOLUME: 9, ISSUE: 1
INDEXED IN: CrossRef: 26
IN MY: ORCID
59
TITLE: Value of Brain Magnetic Resonance Imaging in Mitochondrial Respiratory Chain Disorders  Full Text
AUTHORS: Luisa Diogo; Miguel Cordeiro; Paula Garcia; Isabel Fineza; Cristina Moura; Catarina Resende Oliveira ; Margarida Veiga; Teresa Garcia; Manuela Grazina ;
PUBLISHED: 2010, SOURCE: PEDIATRIC NEUROLOGY, VOLUME: 42, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 9
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