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Gruppiert nach: Dokumententyp | Veröffentlichungsdatum
Anzahl der Publikationen: 6

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

Klopstock, Thomas; Tricta, Fernando; Neumayr, Lynne; Karin, Ivan; Zorzi, Giovanna; Fradette, Caroline; Kmiec, Tomasz; Buchner, Boriana; Steele, Hannah E.; Horvath, Rita; Chinnery, Patrick F.; Basu, Anna; Kupper, Clemens; Neuhofer, Christiane; Kalman, Bernadette; Dusek, Petr; Yapici, Zuhal; Wilson, Ian; Zhao, Feng; Zibordi, Federica; Nardocci, Nardo; Aguilar, Christine; Hayflick, Susan J.; Spino, Michael; Blamire, Andrew M.; Hogarth, Penelope und Vichinsky, Elliott (2019): Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study. In: Lancet Neurology, Bd. 18, Nr. 7: S. 631-642

Minnerop, Martina; Kurzwelly, Delia; Wagner, Holger; Söhn, Anne S.; Reichbauer, Jennifer; Tao, Feifei; Rattay, Tim W.; Peitz, Michael; Rehbach, Kristina; Giorgetti, Alejandro; Pyle, Angela; Thiele, Holger; Altmüller, Janine; Timmann, Dagmar; Karaca, Ilker; Lennarz, Martina; Bäts, Jonathan; Hengel, Holger; Synofzik, Matthis; Atasu, Burcu; Feely, Shawna; Kennerson, Marina; Stendel, Claudia; Lindig, Tobias; Gonzalez, Michael A.; Stirnberg, Rüdiger; Sturm, Marc; Röske, Sandra; Jung, Johanna; Bauer, Peter; Lohmann, Ebba; Herms, Stefan; Heilmann-Heimbach, Stefanie; Nicholson, Garth; Mahanjah, Muhammad; Sharkia, Rajech; Carloni, Paolo; Brüstle, Oliver; Klopstock, Thomas; Mathews, Katherine D.; Shy, Michael E.; Jonghe, Peter de; Chinnery, Patrick F.; Horvath, Rita; Kohlhase, Jürgen; Schmitt, Ina; Wolf, Michael; Greschus, Susanne; Amunts, Katrin; Maier, Wolfgang; Schöls, Ludger; Nürnberg, Peter; Zuchner, Stephan; Klockgether, Thomas; Ramirez, Alfredo und Schüle, Rebecca (2017): Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. In: Brain, Bd. 140: S. 1561-1578

Yu-Wai-Man, Patrick; Hudson, Gavin; Klopstock, Thomas und Chinnery, Patrick F. (2016): Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion. In: Brain, Bd. 139, e18

Haghighi, Alireza; Haack, Tobias B.; Atiq, Mehnaz; Mottaghi, Hassan; Haghighi-Kakhki, Hamidreza; Bashir, Rani A.; Ahting, Uwe; Feichtinger, Rene G.; Mayr, Johannes A.; Rötig, Agnes; Lebre, Anne-Sophie; Klopstock, Thomas; Dworschak, Andrea; Pulido, Nathan; Saeed, Mahmood A.; Saleh-Gohari, Nasrollah; Holzerova, Eliska; Chinnery, Patrick F.; Taylor, Robert W. und Prokisch, Holger (2014): Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients. In: Orphanet Journal of Rare Diseases 9:119 [PDF, 2MB]

McNeill, Alisdair; Birchall, Daniel; Straub, Volker; Goldfarb, Lev; Reilich, Peter; Walter, Maggie C.; Schramm, Nicolai; Lochmueller, Hanns und Chinnery, Patrick F. (2009): Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation. In: European Neurology, Nr. 3: S. 161-166 [PDF, 198kB]

Diese Liste wurde am Sun Apr 14 01:22:29 2024 CEST erstellt.