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FGF14 repeat length and mosaic interruptions: modifiers of spinocerebellar ataxia 27B? Lass, Joshua; Thomsen, Mirja; Borsche, Max; Luth, Theresa; Prietzsche, Julia C.; Schaake, Susen; Milovanovic, Andona; Macpherson, Hannah; Gustavsson, Emil K.; Saffie Awad, Paula; Dragasevic-Miskovic, Natasa; Laabs, Bjorn-Hergen; Konig, Inke R.; Westenberger, Ana; Pearson, Christopher E.; Bruggemann, Norbert; Klein, Christine; Trinh, Joanne Share Save
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Astrocytic RNA editing regulates the host immune response to alpha-synuclein D'Sa, Karishma; Choi, Minee L.; Wagen, Aaron Z.; Seto-Salvia, Nuria; Kopach, Olga; Evans, James R.; Rodrigues, Margarida; Lopez-Garcia, Patricia; Lachica, Joanne; Clarke, Benjamin E.; Singh, Jaijeet; Ghareeb, Ali; Bayne, James; Grant-Peters, Melissa; Garcia-Ruiz, Sonia; Chen, Zhongbo; Rodriques, Samuel; Athauda, Dilan; Gustavsson, Emil K.; Taliun, Sarah A. Gagliano; Toomey, Christina; Reynolds, Regina H.; Young, George; Strohbuecker, Stephanie; Warner, Thomas; Rusakov, Dmitri A.; Bryant, Clare; Klenerman, David A.; Ryten, Mina Share Save
Splicing accuracy varies across human introns, tissues, age and disease Garcia-Ruiz, S.; Zhang, D.; Gustavsson, E. K.; Rocamora-Perez, G.; Grant-Peters, M.; Fairbrother-Browne, A.; Reynolds, R. H.; Brenton, J. W.; Gil-Martinez, A. L.; Chen, Z.; Rio, D. C.; Botia, J. A.; Guelfi, S.; Collado-Torres, L.; Ryten, M. Share Save
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African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1 Jerez, Pilar Alvarez; Crea, Peter Wild; Ramos, Daniel M.; Gustavsson, Emil K.; Radefeldt, Mandy; Damianov, Andrey; Makarious, Mary B.; Ojo, Oluwadamilola O.; Billingsley, Kimberley J.; Malik, Laksh; Daida, Kensuke; Bromberek, Sarah; Hu, Fangle; Schneider, Zachary; Surapaneni, Aditya L.; Stadler, Julia; Rizig, Mie; Morris, Huw R.; Pantazis, Caroline B.; Leonard, Hampton L.; Screven, Laurel; Qi, Yue A.; Nalls, Mike A.; Bandres-Ciga, Sara; Hardy, John; Houlden, Henry; Eng, Celeste; Burchard, Esteban Gonzalez; Kachuri, Linda; Lin, Chia-Ho; Black, Douglas L.; Singleton, Andrew B.; Fischer, Steffen; Bauer, Peter; Reed, Xylena; Ryten, Mina; Beetz, Christian; Ward, Michael; Okubadejo, Njideka U.; Blauwendraat, Cornelis Share Save
The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder Chen, Zhongbo; Alvarez Jerez, Pilar; Anderson, Claire; Paucar, Martin; Lee, Jasmaine; Nilsson, Daniel; Macpherson, Hannah; Scardamaglia, Annarita; Montgomery, Kylie; Hardy, John; Singleton, Andrew B.; Tucci, Arianna; Mathews, Katherine D.; Fu, Ying-Hui; Engvall, Martin; Laffita-Mesa, Jose; Nennesmo, Inger; Wedell, Anna; Ptacek, Louis J.; Blauwendraat, Cornelis; Gustavsson, Emil K.; Svenningsson, Per; Ryten, Mina; Houlden, Henry Share Save
The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1 Gustavsson, Emil K.; Sethi, Siddharth; Gao, Yujing; Brenton, Jonathan W.; Garcia-Ruiz, Sonia; Zhang, David; Garza, Raquel; Reynolds, Regina H.; Evans, James R.; Chen, Zhongbo; Grant-Peters, Melissa; Macpherson, Hannah; Montgomery, Kylie; Dore, Rhys; Wernick, Anna I.; Arber, Charles; Wray, Selina; Gandhi, Sonia; Esselborn, Julian; Blauwendraat, Cornelis; Douse, Christopher H.; Adami, Anita; Atacho, Diahann A. M.; Kouli, Antonina; Quaegebeur, Annelies; Barker, Roger A.; Englund, Elisabet; Platt, Frances; Jakobsson, Johan; Wood, Nicholas W.; Houlden, Henry; Saini, Harpreet; Bento, Carla F.; Hardy, John; Ryten, Mina Share Save
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4 Chen, Zhongbo; Gustavsson, Emil K.; Macpherson, Hannah; Anderson, Claire; Clarkson, Chris; Rocca, Clarissa; Self, Eleanor; Jerez, Pilar Alvarez; Scardamaglia, Annarita; Pellerin, David; Montgomery, Kylie; Lee, Jasmaine; Gagliardi, Delia; Luo, Huihui; Hardy, John; Polke, James; Singleton, Andrew B.; Blauwendraat, Cornelis; Mathews, Katherine D.; Tucci, Arianna; Fu, Ying-Hui; Houlden, Henry; Ryten, Mina; Ptacek, Louis J. Share Save
Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022) Luo, Huihui; Gustavsson, Emil K.; Macpherson, Hannah; Dominik, Natalia; Zhelcheska, Kristina; Montgomery, Kylie; Anderson, Claire; Yau, Wai Yan; Efthymiou, Stephanie; Turner, Chris; DeTure, Michael; Dickson, Dennis W.; Josephs, Keith A.; Revesz, Tamas; Lashley, Tammaryn; Halliday, Glenda; Rowe, Dominic B.; McCann, Emily; Blair, Ian; Lees, Andrew J.; Tienari, Pentti J.; Suomalainen, Anu; Molina-Porcel, Laura; Kovacs, Gabor G.; Gelpi, Ellen; Hardy, John; Haltia, Matti J.; Tucci, Arianna; Jaunmuktane, Zane; Ryten, Mina; Houlden, Henry; Chen, Zhongbo Share Save
The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases Chen, Zhongbo; Reynolds, Regina H.; Pardinas, Antonio F.; Taliun, Sarah A. Gagliano; van Rheenen, Wouter; Lin, Kuang; Shatunov, Aleksey; Gustavsson, Emil K.; Fogh, Isabella; Jones, Ashley R.; Robberecht, Wim; Corcia, Philippe; Chio, Adriano; Shaw, Pamela J.; Morrison, Karen E.; Veldink, Jan H.; van den Berg, Leonard H.; Shaw, Christopher E.; Powell, John F.; Silani, Vincenzo; Hardy, John A.; Houlden, Henry; Owen, Michael J.; Turner, Martin R.; Ryten, Mina; Al-Chalabi, Ammar Share Save
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia Chen, Zhongbo; Tucci, Arianna; Cipriani, Valentina; Gustavsson, Emil K.; Ibanez, Kristina; Reynolds, Regina H.; Zhang, David; Vestito, Letizia; Garcia, Alejandro Cisterna; Sethi, Siddharth; Brenton, Jonathan W.; Garcia-Ruiz, Sonia; Fairbrother-Browne, Aine; Gil-Martinez, Ana-Luisa; Wood, Nick; Hardy, John A.; Smedley, Damian; Houlden, Henry; Botia, Juan; Ryten, Mina Share Save
Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects Krohn, Lynne; Heilbron, Karl; Blauwendraat, Cornelis; Reynolds, Regina H.; Yu, Eric; Senkevich, Konstantin; Rudakou, Uladzislau; Estiar, Mehrdad A.; Gustavsson, Emil K.; Brolin, Kajsa; Ruskey, Jennifer A.; Freeman, Kathryn; Asayesh, Farnaz; Chia, Ruth; Arnulf, Isabelle; Hu, Michele T. M.; Montplaisir, Jacques Y.; Gagnon, Jean-Francois; Desautels, Alex; Dauvilliers, Yves; Gigli, Gian Luigi; Valente, Mariarosaria; Janes, Francesco; Bernardini, Andrea; Hogl, Birgit; Stefani, Ambra; Ibrahim, Abubaker; Sonka, Karel; Kemlink, David; Oertel, Wolfgang; Janzen, Annette; Plazzi, Giuseppe; Biscarini, Francesco; Antelmi, Elena; Figorilli, Michela; Puligheddu, Monica; Mollenhauer, Brit; Trenkwalder, Claudia; Sixel-Doring, Friederike; De Cock, Valerie Cochen; Monaca, Christelle Charley; Heidbreder, Anna; Ferini-Strambi, Luigi; Dijkstra, Femke; Viaene, Mineke; Abril, Beatriz; Boeve, Bradley F.; Scholz, Sonja W.; Ryte, Mina; Bandres-Ciga, Sara; Noyce, Alastair; Cannon, Paul; Pihlstrom, Lasse; Nalls, Mike A.; Singleton, Andrew B.; Rouleau, Guy A.; Postuma, Ronald B.; Gan-Or, Ziv Share Save
IntroVerse: a comprehensive database of introns across human tissues Garcia-Ruiz, Sonia; Gustavsson, Emil K.; Zhang, David; Reynolds, Regina H.; Chen, Zhongbo; Fairbrother-Browne, Aine; Gil-Martinez, Ana Luisa; Botia, Juan A.; Collado-Torres, Leonardo; Ryten, Mina Share Save
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Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease Lai, Dongbing; Alipanahi, Babak; Fontanillas, Pierre; Schwantes-An, Tae-Hwi; Aasly, Jan; Alcalay, Roy N.; Beecham, Gary W.; Berg, Daniela; Bressman, Susan; Brice, Alexis; Brockman, Kathrin; Clark, Lorraine; Cookson, Mark; Das, Sayantan; Van Deerlin, Vivianna; Follett, Jordan; Farrer, Matthew J.; Trinh, Joanne; Gasser, Thomas; Goldwurm, Stefano; Gustavsson, Emil; Klein, Christine; Lang, Anthony E.; Langston, J. William; Latourelle, Jeanne; Lynch, Timothy; Marder, Karen; Marras, Connie; Martin, Eden R.; McLean, Cory Y.; Mejia-Santana, Helen; Molho, Eric; Myers, Richard H.; Nuytemans, Karen; Ozelius, Laurie; Payami, Haydeh; Raymond, Deborah; Rogaeva, Ekaterina; Rogers, Michael P.; Ross, Owen A.; Samii, Ali; Saunders-Pullman, Rachel; Schule, Birgitt; Schulte, Claudia; Scott, William K.; Tanner, Caroline; Tolosa, Eduardo; Tomkins, James E.; Vilas, Dolores; Trojanowski, John Q.; Uitti, Ryan; Vance, Jeffery M.; Visanji, Naomi P.; Wszolek, Zbigniew K.; Zabetian, Cyrus P.; Mirelman, Anat; Giladi, Nir; Orr Urtreger, Avi; Cannon, Paul; Fiske, Brian; Foroud, Tatiana Share Save
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