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收藏Exome sequencing of a Portuguese cohort of early-onset Alzheimer's disease implicates the X-linked lysosomal gene GLA
Tabuas-Pereira, Miguel; Bras, Jose; Taipa, Ricardo; Del Tredici, Kelly; Paquette, Kimberly; Chaudhry, Sophia; Denhaan, Kaitlyn; Duraes, Joao; Lima, Marisa; Bernardes, Catarina; Carmona, Susana; Baldeiras, Ines; Almeida, Rosario; Santana, Isabel; Guerreiro, Rita 分享 收藏 Brain MRI in patients with V30M hereditary transthyretin amyloidosisSousa, Luisa; Pinto, Catarina; Azevedo, Ana; Igreja, Liliana; Marta, Ana; Fernandes, Joana; Oliveira, Pedro; Cardoso, Marcio; Alves, Cristina; da Silva, Ana Martins; Pinto, Miguel Mendonca; Sousa, Ana Paula; Coelho, Teresa; Taipa, Ricardo 分享 收藏 α-Synuclein triggers cofilin pathology and dendritic spine impairment via a PrP©-CCR5 dependent pathwayOliveira da Silva, Marina I.; Santejo, Miguel; Babcock, Isaac W.; Magalhaes, Ana; Minamide, Laurie S.; Won, Seok-Joon; Castillo, Erika; Gerhardt, Ellen; Fahlbusch, Christiane; Swanson, Raymond A.; Outeiro, Tiago F.; Taipa, Ricardo; Ruff, Michael; Bamburg, James R.; Liz, Marcia A. 分享 收藏 分享 收藏 Multisystemic RFC1-Related Disorder: Expanding the Phenotype Beyond Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia SyndromeMalaquias, Maria Joao; Braz, Luis; Silva, Claudia Santos; Damasio, Joana; Jorge, Andre; Lemos, Joao M.; Campos, Catarina F.; Garcez, Daniela; Oliveira Santos, Miguel; Velon, Ana G.; Caetano, Andre; Calejo, Margarida; Fernandes, Preza; Rego, Angela; Castro, Sandra; Sousa, Ana P.; Cardoso, Marcio Neves; Fernandes, Marco; Pinto, Miguel M.; Taipa, Ricardo; Lopes, Ana M.; Oliveira, Jorge; Magalhaes, Marina 分享 收藏 分享 收藏 Cadherin-3 is a novel oncogenic biomarker with prognostic value in glioblastomaMartins, Eduarda P.; Goncalves, Celine S.; Pojo, Marta; Carvalho, Rita; Ribeiro, Ana S.; Miranda-Goncalves, Vera; Taipa, Ricardo; Pardal, Fernando; Pinto, Afonso A.; Custodia, Carlos; Faria, Claudia C.; Baltazar, Fatima; Sousa, Nuno; Paredes, Joana; Costa, Bruno M. 分享 收藏 Parkinson's disease and multiple system atrophy patient iPSC-derived oligodendrocytes exhibit alpha-synuclein-induced changes in maturation and immune reactive properties帕金森氏病和多系统萎缩患者iPSC衍生的少突胶质细胞表现出 α-突触核蛋白诱导的成熟和免疫反应特性的变化Azevedo, Carla; Teku, Gabriel; Pomeshchik, Yuriy; Reyes, Juan F.; Chumarina, Margarita; Russ, Kaspar; Savchenko, Ekaterina; Hammarberg, Anna; Lamas, Nuno Jorge; Collin, Anna; Gouras, Gunnar K.; Klementieva, Oxana; Hallbeck, Martin; Taipa, Ricardo; Vihinen, Mauno; Roybon, Laurent 分享 收藏 Peripheral neuropathy in Parkinson's disease: prevalence and functional impact on gait and balanceCorra, Marta Francisca; Vila-Cha, Nuno; Sardoeira, Ana; Hansen, Clint; Sousa, Ana Paula; Reis, Ines; Sambayeta, Firmina; Damasio, Joana; Calejo, Margarida; Schicketmueller, Andreas; Laranjinha, Ines; Salgado, Paula; Taipa, Ricardo; Magalhaes, Rui; Correia, Manuel; Maetzler, Walter; Maia, Luis F. 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Advantages of an Automated Method Compared With Manual Methods for the Quantification of Intraepidermal Nerve Fiber in Skin BiopsyCorra, Marta Francisca; Sousa, Mafalda; Reis, Ines; Tanganelli, Fabiana; Vila-Cha, Nuno; Sousa, Ana Paula; Magalhaes, Rui; Sampaio, Paula; Taipa, Ricardo; Maia, Luis 分享 收藏 分享 收藏 Leprosy presenting as remitting seronegative symmetrical synovitis with pitting oedema syndrome - a case reportGuerra, Miguel Gomes; Ferreira Cardoso Videira, Taciana Marta; Gomes Morais, Hugo Alexandre; Resse Nunes Santos, Telma Cristiana; Ferreira Taipa, Ricardo Jorge; Abreu, Miguel Araujo; Carvalho Vieira, Romana Carisa; Goncalves Guimaraes da Fonseca, Diogo Miranda; Abelha Aleixo dos Santos, Joana Patricia; Abreu Monteiro Pinto, Sandra Patricia 分享 收藏 Proinflammatory and anti-inflammatory cytokines in the CSF of patients with Alzheimer's disease and their correlation with cognitive decline阿尔茨海默病患者脑脊液中促炎和抗炎细胞因子及其与认知功能下降的相关性Taipa, Ricardo; das Neves, Sofia P.; Sousa, Ana L.; Fernandes, Joana; Pinto, Claudia; Correia, Ana P.; Santos, Ernestina; Pinto, Pedro S.; Carneiro, Paula; Costa, Patricio; Santos, Diana; Alonso, Isabel; Patna, Joana; Marques, Fernanda; Cavaco, Sara; Sousa, Nuno 分享 收藏 分享 收藏 LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypesOliveira, Jorge; Gruber, Angela; Cardoso, Marcio; Taipa, Ricardo; Fineza, Isabel; Goncalves, Ana; Laner, Andreas; Winder, Thomas L.; Schroeder, Jocelyn; Rath, Julie; Oliveira, Marcia E.; Vieira, Emilia; Sousa, Ana Paula; Vieira, Jose Pedro; Lourenco, Teresa; Almendra, Luciano; Negrao, Luis; Santos, Manuela; Melo-Pires, Manuel; Coelho, Teresa; den Dunnen, Johan T.; Santos, Rosario; Sousa, Mario 分享 收藏 
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