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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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Copy number variants from 4800 exomes contribute to ∼7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies Pennings, Maartje; Meijer, Rowdy P. P.; Gerrits, Monique; Janssen, Jannie; Pfundt, Rolph; de Leeuw, Nicole; Gilissen, Christian; Gardeitchik, Thatjana; Schouten, Meyke; Voermans, Nicol; van de Warrenburg, Bart; Kamsteeg, Erik-Jan 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
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4 Parodi, Livia; Barbier, Mathieu; Jacoupy, Maxime; Pujol, Claire; Lejeune, Francois-Xavier; Lallemant-Dudek, Pauline; Esteves, Typhaine; Pennings, Maartje; Kamsteeg, Erik-Jan; Guillaud-Bataille, Marine; Banneau, Guillaume; Coarelli, Giulia; Oumoussa, Badreddine Mohand; Fraidakis, Matthew J.; Stevanin, Giovanni; Depienne, Christel; van de Warrenburg, Bart; Brice, Alexis; Durr, Alexandra 分享 收藏
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy 杂合的UCHL1功能丧失变体导致神经退行性疾病，伴有痉挛，共济失调，神经病和视神经萎缩 Park, Joohyun; Tucci, Arianna; Cipriani, Valentina; Demidov, German; Rocca, Clarissa; Senderek, Jan; Butryn, Michaela; Velic, Ana; Lam, Tanya; Galanaki, Evangelia; Cali, Elisa; Vestito, Letizia; Maroofian, Reza; Deininger, Natalie; Rautenberg, Maren; Admard, Jakob; Hahn, Gesa-Astrid; Bartels, Claudius; van Os, Nienke J. H.; Horvath, Rita; Chinnery, Patrick F.; Tiet, May Yung; Hewamadduma, Channa; Hadjivassiliou, Marios; Tofaris, George K.; Wood, Nicholas W.; Hayer, Stefanie N.; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Klein, Katrin; Huu Phuc Nguyen; Krauss, Joachim K.; Blahak, Christian; Strom, Tim M.; Sturm, Marc; van de Warrenburg, Bart; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Timmann, Dagmar; Wolf, Marc E.; Smedley, Damian; Riess, Olaf; Schoels, Ludger; Houlden, Henry; Haack, Tobias B.; Hengel, Holger 分享 收藏
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Polyglutamine-Expanded Ataxin-3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood 多谷氨酰胺扩展Ataxin-3: 外周血中脊髓小脑性共济失调3型的目标参与标志物 Huebener-Schmid, Jeannette; Kuhlbrodt, Kirsten; Peladan, Julien; Faber, Jennifer; Santana, Magda M.; Hengel, Holger; Jacobi, Heike; Reetz, Kathrin; Garcia-Moreno, Hector; Raposo, Mafalda; van Gaalen, Judith; Infante, Jon; Steiner, Katharina M.; de Vries, Jeroen; Verbeek, Marcel M.; Giunti, Paola; Pereira de Almeida, Luis; Lima, Manuela; van de Warrenburg, Bart; Schoels, Ludger; Klockgether, Thomas; Synofzik, Matthis; Riess, Olaf 分享 收藏
Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield van der Sanden, Bart P. G. H.; Corominas, Jordi; de Groot, Michelle; Pennings, Maartje; Meijer, Rowdy P. P.; Verbeek, Nienke; van de Warrenburg, Bart; Schouten, Meyke; Yntema, Helger G.; Vissers, Lisenka E. L. M.; Kamsteeg, Erik-Jan; Gilissen, Christian 分享 收藏
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The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort Garrelfs, Mark R.; Takada, Sanami; Kamsteeg, Erik-Jan; Pegge, Sjoert; Mancini, Grazia; Engelen, Marc; van de Warrenburg, Bart; Rennings, Alexander; van Gaalen, Judith; Peters, Ivo; Weemaes, Corry; van der Burg, Mirjam; Willemsen, Michel A. 分享 收藏
Assessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and Recommendations 共济失调评定量表和小脑功能测试的评估: 评论和建议 Perez-Lloret, Santiago; van de Warrenburg, Bart; Rossi, Malco; Rodriguez-Blazquez, Carmen; Zesiewicz, Theresa; Saute, Jonas A. M.; Durr, Alexandra; Nishizawa, Masatoyo; Martinez-Martin, Pablo; Stebbins, Glenn T.; Schrag, Anette; Skorvanek, Matej 分享 收藏
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Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients Traschuetz, Andreas; Schirinzi, Tommaso; Laugwitz, Lucia; Murray, Nathan H.; Bingman, Craig A.; Reich, Selina; Kern, Jan; Heinzmann, Anna; Vasco, Gessica; Bertini, Enrico; Zanni, Ginevra; Durr, Alexandra; Magri, Stefania; Taroni, Franco; Malandrini, Alessandro; Baets, Jonathan; de Jonghe, Peter; de Ridder, Willem; Bereau, Matthieu; Demuth, Stephanie; Ganos, Christos; Basak, A. Nazli; Hanagasi, Hasmet; Kurul, Semra Hiz; Bender, Benjamin; Schoels, Ludger; Grasshoff, Ute; Klopstock, Thomas; Horvath, Rita; van de Warrenburg, Bart; Burglen, Lydie; Rougeot, Christelle; Ewenczyk, Claire; Koenig, Michel; Santorelli, Filippo M.; Anheim, Mathieu; Munhoz, Renato P.; Haack, Tobias; Distelmaier, Felix; Pagliarini, David J.; Puccio, Helene; Synofzik, Matthis 分享 收藏
Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice Wilke, Carlo; Haas, Eva; Reetz, Kathrin; Faber, Jennifer; Garcia-Moreno, Hector; Santana, Magda M.; van de Warrenburg, Bart; Hengel, Holger; Lima, Manuela; Filla, Alessandro; Durr, Alexandra; Melegh, Bela; Masciullo, Marcella; Infante, Jon; Giunti, Paola; Neumann, Manuela; de Vries, Jeroen; de Almeida, Luis Pereira; Rakowicz, Maria; Jacobi, Heike; Schule, Rebecca; Kaeser, Stephan A.; Kuhle, Jens; Klockgether, Thomas; Schoels, Ludger; Barro, Christian; Huebener-Schmid, Jeannette; Synofzik, Matthis 分享 收藏
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