Repositório do Hospital Prof. Doutor Fernando Fonseca: Search

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Issue Date	Title	Author(s)	Type	Access Type
2005	A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14	Alonso, I; Costa, C; Gomes, A; Ferro, A; Seixas, A; Silva, S; Cruz, V; Coutinho, P; Sequeiros, J; Silveira, I	article
2005	Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea	Costa, MC; Costa, C; Silva, A; Evangelista, P; Santos, L; Ferro, A; Sequeiros, J; Maciel, P	article
2010	Motor uncoordination and neuropathology in a transgenic mouse model of Machado-Joseph disease lacking intranuclear inclusions and ataxin-3 cleavage products	Silva-Fernandes, A; Costa, MC; Duarte-Silva, S; Oliveira, P; Botelho, C; Martins, L; Mariz, J; Ferreira, T; Ribeiro, F; Correia-Neves, M; Costa, C; Maciel, P	article
2008	Long-term follow-up in Stuve–Wiedemann syndrome: a clinical report	Gaspar, I; Saldanha, T; Cabral, P; Vilhena, M; Tuna, M; Costa, C; Dagoneau, N; Daire, V; Hennekam, R	article
2001	Neuronal migration defects in the Dreher (Lmx1a) mutant mouse: role of disorders of the glial limiting membrane	Costa, C; Harding, B; Copp, A	article
2014	Vasculite do SNC a vírus varicela zoster: uma causa tratável de paraparésia espástica progressiva	Santos, M; Costa, C	conferenceObject
2014	Horizontal Gaze Palsy With Progressive Scoliosis and Severe Keratoconus With a Compound Heterozygous Mutation in ROBO3.	Pina, S; Pedrosa, C; Feijóo, B; Machado, S; Prieto, I; Costa, C; Santos, MJ	article
2017	A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia	Seixas, A; Loureiro, R; Costa, C; Ordóñez-Ugalde, A; Marcelino, H; Oliveira, L; Loureiro L, e outros	article
2018	An Adult with Episodic Abnormal Limb Posturing	Santos, M; Rebordão, L; Leitão, L; Costa, C; Lobo, P	article
2014	Crosstalk between genetics, gene expression and biochemical markers supports systemic iron homeostasis dysregulation in alzheimer disease	Crespo, A; Silva, B; Ferreira, C; Marquesa, L; Marcelino, E; Maruta, C; Costa, S; Timóteo, A; Vilares, A; Couto, F; Faustino, P; Correia, AP; Verdelho, A; Porto, G; Guerreiro, M; Herrero Valverde, A; Costa, C; Mendonça, A; Costa, L; Martins, M	conferenceObject