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Unravelling the Global Tapestry of Genetic Ataxias: Epidemiology and Genetic Testing Approaches 解析遗传性共济失调的全球图景：流行病学与基因检测方法 Malco Rossi MD, PhD; Christopher D. Stephen MB, ChB, FRCP, SM; Joana Damásio MD, PhD; José Luiz Pedroso MD, PhD; Sheng-Han Kuo MD; Chi-Ying R. Lin MD, MPH; Oluwadamilola Ojo MD; Shaimaa El-Jaafary MD; Woong-Woo Lee MD, PhD; Harutyun Madoev MSc; Orlando G.P. Barsottini MD, PhD; Achal Kumar Srivastava MD, DM; Christine Klein MD; Bart P. van de Warrenburg MD, PhD 分享 收藏
Validation of the Portuguese version of the Movement Disorder Society non-motor rating scale (MDS-NMS) in Parkinson's disease 帕金森氏病中葡萄牙语版本的运动障碍协会非运动评定量表 (mds-nms) 的验证 Vale, Thiago Cardoso; Santos, Daniela Pereira; de Oliveira, Daniel Sabino; Brandao, Pedro Renato de Paula; Pereira, Danilo Assis; Bouca-Machado, Raquel; Silva, Leonardo Oliveira; Rieder, Carlos Roberto de Mello; Barbosa, Egberto Reis; Cury, Rubens Gisbert; Parmera, Jacy Bezerra; Teive, Helio Afonso Ghizoni; Ferreira, Matheus Gomes; Ferraz, Henrique Ballalai; da Silva, Carolina Candeias; Tumas, Vitor; Cunha, Ana Luiza Nunes; Braga-Neto, Pedro; Lima, Danielle Pessoa; Della Colleta, Marcus Vinicius; Maia, Debora; Fontana, Marco de Souza; Damas, Catarina N.; Lobo, Patricia Pita; Rebordao, Leonor; Magalhaes, Andreia D.; Peralta, Ana Rita; Simoes, Rita M.; Lampreia, Tania; Velon, Ana Graca; Carneiro, Diogo; Raimundo, Rita; Gago, Miguel; Mendes, Alexandre; Cha, Nuno Vila; Damasio, Joana; Costa, Sara; Lopes, Rui; Morgadinho, Ana; Mestre, Tiago; Stebbins, Glenn T.; Luo, Sheng; Goetz, Christopher G.; Ferreira, Joaquim J.; Cardoso, Francisco 分享 收藏
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Multisystemic RFC1-Related Disorder: Expanding the Phenotype Beyond Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome Malaquias, 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
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias 非扩张性脊髓小脑共济失调的极端表型异质性 Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M.; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; Charles, Perrine; Stendel, Claudia; Romano, Silvia; Scarlato, Marina; Le Ber, Isabelle; Bassi, Maria Teresa; Serrano, Mercedes; Schmitz-Hubsch, Tanja; Doss, Sarah; Van Velzen, Gijs A. J.; Thomas, Quentin; Trabacca, Antonio; Ortigoza-Escobar, Juan Dario; D'Arrigo, Stefano; Timmann, Dagmar; Pantaleoni, Chiara; Martinuzzi, Andrea; Besse-Pinot, Elsa; Marsili, Luca; Cioffi, Ettore; Nicita, Francesco; Giorgetti, Alejandro; Moroni, Isabella; Romaniello, Romina; Casali, Carlo; Ponger, Penina; Casari, Giorgio; De Bot, Susanne T.; Ristori, Giovanni; Blumkin, Lubov; Borroni, Barbara; Goizet, Cyril; Marelli, Cecilia; Boesch, Sylvia; Anheim, Mathieu; Filla, Alessandro; Houlden, Henry; Bertini, Enrico; Klopstock, Thomas; Synofzik, Matthis; Riant, Florence; Zanni, Ginevra; Magri, Stefania; Di Bella, Daniela; Nanetti, Lorenzo; Sequeiros, Jorge; Oliveira, Jorge; Warrenburg, Bart Van de; Schoels, Ludger; Taroni, Franco; Brice, Alexis; Durr, Alexandra 分享 收藏
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Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort 拥抱单基因帕金森病: MJFF全球遗传PD队列 Vollstedt, Eva-Juliane; Schaake, Susen; Lohmann, Katja; Padmanabhan, Shalini; Brice, Alexis; Lesage, Suzanne; Tesson, Christelle; Vidailhet, Marie; Wurster, Isabel; Hentati, Faycel; Mirelman, Anat; Giladi, Nir; Marder, Karen; Waters, Cheryl; Fahn, Stanley; Kasten, Meike; Bruggemann, Norbert; Borsche, Max; Foroud, Tatiana; Tolosa, Eduardo; Garrido, Alicia; Annesi, Grazia; Gagliardi, Monica; Bozi, Maria; Stefanis, Leonidas; Ferreira, Joaquim J.; Guedes, Leonor Correia; Avenali, Micol; Petrucci, Simona; Clark, Lorraine; Fedotova, Ekaterina Y.; Abramycheva, Natalya Y.; Alvarez, Victoria; Menendez-Gonzalez, Manuel; Maestre, Silvia Jesus; Gomez-Garre, Pilar; Mir, Pablo; Belin, Andrea Carmine; Ran, Caroline; Lin, Chin-Hsien; Kuo, Ming-Che; Crosiers, David; Wszolek, Zbigniew K.; Ross, Owen A.; Jankovic, Joseph; Nishioka, Kenya; Funayama, Manabu; Clarimon, Jordi; Williams-Gray, Caroline H.; Camacho, Marta; Cornejo-Olivas, Mario; Torres-Ramirez, Luis; Wu, Yih-Ru; Lee-Chen, Guey-Jen; Morgadinho, Ana; Pulkes, Teeratorn; Termsarasab, Pichet; Berg, Daniela; Kuhlenbaumer, Gregor; Kuhn, Andrea A.; Borngraeber, Friederike; de Michele, Giuseppe; De Rosa, Anna; Zimprich, Alexander; Puschmann, Andreas; Mellick, George D.; Dorszewska, Jolanta; Carr, Jonathan; Ferese, Rosangela; Gambardella, Stefano; Chase, Bruce; Markopoulou, Katerina; Satake, Wataru; Toda, Tatsushi; Rossi, Malco; Merello, Marcelo; Lynch, Timothy; Olszewska, Diana A.; Lim, Shen-Yang; Ahmad-Annuar, Azlina; Tan, Ai Huey; Al-Mubarak, Bashayer; Hanagasi, Hasmet; Koziorowski, Dariusz; Ertan, Sibel; Genc, Gencer; Aguiar, Patricia de Carvalho; Barkhuizen, Melinda; Pimentel, Marcia M. G.; Saunders-Pullman, Rachel; van de Warrenburg, Bart; Bressman, Susan; Toft, Mathias; Appel-Cresswell, Silke; Lang, Anthony E.; Skorvanek, Matej; Boon, Agnita J. W.; Kruger, Rejko; Sammler, Esther M.; Tumas, Vitor; Zhang, Bao-Rong; Garraux, Gaetan; Chung, Sun Ju; Kim, Yun Joong; Winkelmann, Juliane; Sue, Carolyn M.; Tan, Eng-King; Damasio, Joana; Klivenyi, Peter; Kostic, Vladimir S.; Arkadir, David; Martikainen, Mika; Borges, Vanderci; Hertz, Jens Michael; Brighina, Laura; Spitz, Mariana; Suchowersky, Oksana; Riess, Olaf; Das, Parimal; Mollenhauer, Brit; Gatto, Emilia M.; Petersen, Maria Skaalum; Hattori, Nobutaka; Wu, Ruey-Meei; Illarioshkin, Sergey N.; Valente, Enza Maria; Aasly, Jan O.; Aasly, Anna; Alcalay, Roy N.; Thaler, Avner; Farrer, Matthew J.; Brockmann, Kathrin; Corvol, Jean-Christophe; Klein, Christine 分享 收藏
Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia 葡萄牙遗传性小脑共济失调患者的分子特征 Santos, Mariana; Damasio, Joana; Carmona, Susana; Neto, Joao Luis; Dehghani, Nadia; Guedes, Leonor Correia; Barbot, Clara; Barros, Jose; Bras, Jose; Sequeiros, Jorge; Guerreiro, Rita 分享 收藏
Peripheral neuropathy in Parkinson's disease: prevalence and functional impact on gait and balance Corra, 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
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Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations Hoshino, Kyoko; Sweadner, Kathleen J.; Kawarai, Toshitaka; Saute, Jonas Alex; Freitas, Joel; Damasio, Joana; Donis, Karina C.; Kimura, Kazue; Fukuda, Hideki; Hayashi, Masaharu; Higuchi, Tetsuya; Ikeda, Yoshio; Ozelius, Laurie J.; Kaji, Ryuji 分享 收藏
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