|
Eine Ebene nach oben |
Gruppiert nach:
Dokumententyp
| Veröffentlichungsdatum
Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 3
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
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