Anzahl der Publikationen: 3
Zeitschriftenartikel
Hohenfeld, Christian; Terstiege, Ulrich; Dogan, Imis; Giunti, Paola; Parkinson, Michael H.; Mariotti, Caterina; Nanetti, Lorenzo; Fichera, Mario; Durr, Alexandra; Ewenczyk, Claire; Boesch, Sylvia; Nachbauer, Wolfgang; Klopstock, Thomas; Stendel, Claudia; de Rivera Garrido, Francisco Javier Rodriguez; Schoels, Ludger; Hayer, Stefanie N.; Klockgether, Thomas; Giordano, Ilaria; Didszun, Claire; Rai, Myriam; Pandolfo, Massimo; Rauhut, Holger ORCID: https://orcid.org/0000-0003-4750-5092; Schulz, Joerg B. und Reetz, Kathrin
(2022):
Prediction of the disease course in Friedreich ataxia.
In: Scientific Reports, Bd. 12, Nr. 1, 19173
[PDF, 1MB]
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
Reetz, Kathrin; Dogan, Imis; Hilgers, Ralf-Dieter; Giunti, Paola; Parkinson, Michael H.; Mariotti, Caterina; Nanetti, Lorenzo; Durr, Alexandra; Ewenczyk, Claire; Boesch, Sylvia; Nachbauer, Wolfgang; Klopstock, Thomas; Stendel, Claudia; de Rivera Garrido, Francisco Javier Rodriguez; Rummey, Christian; Schoels, Ludger; Hayer, Stefanie N.; Klockgether, Thomas; Giordano, Ilaria; Didszun, Claire; Rai, Myriam; Pandolfo, Massimo und Schulz, Jorg B.
(2021):
Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study.
In: Lancet Neurology, Bd. 20, Nr. 5: S. 362-372
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