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Zeitschriftenartikel
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; Os, Nienke J. H. van; 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; Warrenburg, Bart vam de; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Timmann, Dagmar; Wolf, Marc E.; Smedley, Damian; Riess, Olaf; Schoels, Ludger; Houlden, Henry; Haack, Tobias B. und Hengel, Holger
(2022):
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
In: Genetics in Medicine, Bd. 24, Nr. 10: S. 2079-2090
Magrinelli, Francesca; Mehta, Sahil; Di Lazzaro, Giulia; Latorre, Anna; Edwards, Mark J.; Balint, Bettina; Basu, Purba; Kobylecki, Christopher; Groppa, Sergiu; Hegde, Anaita; Mulroy, Eoin; Estevez-Fraga, Carlos; Arora, Anshita; Kumar, Hrishikesh; Schneider, Susanne A.; Lewis, Patrick A.; Jaunmuktane, Zane; Revesz, Tamas; Gandhi, Sonia; Wood, Nicholas W.; Hardy, John A.; Tinazzi, Michele; Lal, Vivek; Houlden, Henry und Bhatia, Kailash P.
(2021):
Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.
In: Movement Disorders, Bd. 37, Nr. 1: S. 148-161
Patsopoulos, Nikolas A.; Baranzini, Sergio E.; Santaniello, Adams; Shoostari, Parisa; Cotsapas, Chris; Wong, Garrett; Beecham, Ashley H.; James, Tojo; Replogle, Joseph; Vlachos, Ioannis S.; McCabe, Cristin; Pers, Tune H.; Brandes, Aaron; White, Charles; Keenan, Brendan; Cimpean, Maria; Winn, Phoebe; Panteliadis, Ioannis-Pavlos; Robbins, Allison; Andlauer, Till F. M.; Zarzycki, Onigiusz; Dubois, Bénédicte; Goris, An; Sondergaard, Helle Bach; Sellebjerg, Finn; Sorensen, Per Soelberg; Ullum, Henrik; Thorner, Lise Wegner; Saarela, Janna; Cournu-Rebeix, Isabelle; Damotte, Vincent; Fontaine, Bertrand; Guillot-Noel, Lena; Lathrop, Mark; Vukusic, Sandra; Berthele, Achim; Pongratz, Viola; Pongratz, Viola; Gasperi, Christiane; Graetz, Christiane; Grummel, Verena; Hemmer, Bernhard; Hoshi, Muni; Knier, Benjamin; Korn, Thomas; Lill, Christina M.; Luessi, Felix; Muehlau, Mark; Zipp, Frauke; Dardiotis, Efthimios; Agliardi, Cristina; Amoroso, Antonio; Barizzone, Nadia; Benedetti, Maria D.; Bernardinelli, Luisa; Cavalla, Paola; Clarelli, Ferdinando; Comi, Giancarlo; Cusi, Daniele; Esposito, Federica; Ferre, Laura; Galimberti, Daniela; Guaschino, Clara; Leone, Maurizio A.; Martinelli, Vittorio; Moiola, Lucia; Salvetti, Marco; Sorosina, Melissa; Vecchio, Domizia; Zauli, Andrea; Santoro, Silvia; Mancini, Nicasio; Zuccala, Miriam; Mescheriakova, Julia; van Duijn, Cornelia; Bos, Steffan D.; Celius, Elisabeth G.; Spurkland, Anne; Comabella, Manuel; Montalban, Xavier; Alfredsson, Lars; Bomfim, Izaura L.; Gomez-Cabrero, David; Hillert, Jan; Jagodic, Maja; Linden, Magdalena; Piehl, Fredrik; Jelcic, Ilijas; Martin, Roland; Sospedra, Mirela; Baker, Amie; Ban, Maria; Hawkins, Clive; Hysi, Pirro; Kalra, Seema; Karpe, Fredrik; Khadake, Jyoti; Lachance, Genevieve; Molyneux, Paul; Neville, Matthew; Thorpe, John; Bradshaw, Elizabeth; Caillier, Stacy J.; Calabresi, Peter; Cree, Bruce A. C.; Cross, Anne; Davis, Mary; de Bakker, Paul W. I.; Delgado, Silvia; Dembele, Marieme; Edwards, Keith; Fitzgerald, Kate; Frohlich, Irene Y.; Gourraud, Pierre-Antoine; Haines, Jonathan L.; Hakonarson, Hakon; Kimbrough, Dorlan; Isobe, Noriko; Konidari, Ioanna; Lathi, Ellen; Lee, Michelle H.; Li, Taibo; An, David; Zimmer, Andrew; Madireddy, Lohith; Manrique, Clara P.; Mitrovic, Mitja; Olah, Marta; Patrick, Ellis; Pericak-Vance, Margaret A.; Piccio, Laura; Schaefer, Cathy; Weiner, Howard; Lage, Kasper; Scott, Rodney J.; Lechner-Scott, Jeannette; Leal, Rod; Moscato, Pablo; Booth, David R.; Stewart, Graeme J.; Vucic, Stephen; Pame, Grant; BamettO, Michael; Mason, Deborah; GriffithS, Lyn; Broadley, Simon; Tajouri, Lotti; Baxter, Alan; Slee, Mark; Taylor, Bruce V.; Charlesworth, Jac; Kilpatrick, Trevor J.; Rubio, Justin; Jokubaitis, Vilija; Wiley, James; Butzkueven, Helmut; Leslie, Stephen; Motyer, Allan; Stankovich, Jim; Carroll, William M.; Kermode, Allan G.; Edrin, Marzena; Barclay, Murray; Peyrin-Biroulet, Laurent; Chamaillard, Mathias; Colombe, Jean-Frederick; Cottone, Mario; Croft, Anthony; D'Inca, Renata; Halfvarson, Jonas; Hanigan, Katherine; Henderson, Paul; Hugot, Jean-Pierre; Karban, Amir; Kennedy, Nicholas A.; Khan, Mohammed Azam; Lemann, Marc; Levine, Arie; Massey, Dunecan; Milla, Monica; Motoey, Grant W.; Ng, Sok Meng Evelyn; Oikonomnou, Joannis; Peeters, Harald; Proctor, Deborah D.; Rahier, Jean-Francois; Roberts, Rebecca; Rutgeerts, Paul; Seibold, Frank; Stronati, Laura; Taylor, Kirstin M.; Torkvist, Leif; Ublick, Kullak; Van Limbergen, Johan; Van Gossum, Andre; Vatn, Morten H.; Zhang, Hu; Zhang, Wei; Donnelly, Peter; Barroso, Ines; Blackwe, Jenefer M.; Bramon, Elvira; Brown, Matthew A.; Casas, Juan P.; Corvin, Aiden; Deloukas, Panos; Duncanson, Audrey; Jankowski, Janusz; Markus, Hugh S.; Mathew, Christopher G.; Palmer, Colin N. A.; Plomin, Robert; Rautanen, Anna; Sawcer, Stephen J.; Trembath, Richard C.; Viswanathan, Ananth C.; Wood, Nicholas W.; Spencer, Chris C. A.; Band, Gavin; Bellenguez, Celine; Freeman, Colin; Hellenthal, Garrett; Giannoulatou, Eleni; Pirinen, Matti; Pearson, Richard; Strange, Amy; Sul, Zhan; Vukcevic, Damj An; Donnelly, Peter; Langford, Cordelia; Hunt, Sarah E.; Edkins, Sarah; Gwilliam, Rhian; Blackburn, Hannah; Bumpstead, Suzannah J.; Dronov, Serge; Gillman, Matthew; Gray, Emma; Hammond, Naomi; Jayakumar, Alagurevathi; McCann, Owen T.; Liddle, Jennifer; Potter, Simon C.; Ravindrarajah, Radhi; Ricketts, Michelle; Waller, Matthew; Weston, Paul; Widaa, Sara; Whittaker, Pamela; Barroso, Ines; Deloukas, Panos; Mathew, Christopher G.; Blackwe, Jenefer M.; Brown, Matthew A.; Corvin, Aiden; Spencer, Chris C. A.; Compston, Alastair; Hafler, David; Harbo, Hanne F.; Hauser, Stephen L.; Stewart, Graeme; D'Alfonso, Sandra; Hadjigeorgiou, Georgios; Taylor, Bruce; Barcellos, Lisa F.; Booth, David; Hintzen, Rogier; Kockum, Ingrid; Martinelli-Boneschi, Filippo; McCauley, Jacob L.; Oksenberg, Jorge R.; Oturai, Annette; Sawcer, Stephen; Ivinson, Adrian J.; Olsson, Tomas und De Jager, Philip L.
(2019):
Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility.
In: Science, Bd. 365, Nr. 6460, eaav7188:
1417-+
[PDF, 1MB]
Boot, Erik; Butcher, Nancy J.; Udow, Sean; Marras, Connie; Mok, Kin Y.; Kaneko, Satoshi; Barrett, Matthew J.; Prontera, Paolo; Berman, Brian D.; Masellis, Mario; Dufournet, Boris; Nguyen, Karine; Charles, Perrine; Mutez, Eugenie; Danaila, Teodor; Jacquette, Aurelia; Colin, Olivier; Drapier, Sophie; Borg, Michel; Fiksinski, Ania M.; Vergaelen, Elfi; Swillen, Ann; Vogels, Annick; Plate, Annika; Perandones, Claudia; Gasser, Thomas; Clerinx, Kristien; Bourdain, Frederic; Mills, Kelly; Williams, Nigel M.; Wood, Nicholas W.; Booij, Jan; Lang, Anthony E. und Bassett, Anne S.
(2018):
Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2.
In: Neurology, Bd. 90, Nr. 23, E2059-E2067