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Anzahl der Publikationen: 7
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
van der Lee, Sven J.; Conway, Olivia J.; Jansen, Iris; Carrasquillo, Minerva M.; Kleineidam, Luca; van den Akker, Erik; Hernandez, Isabel; van Eijk, Kristel R.; Stringa, Najada; Chen, Jason A.; Zettergren, Anna; Andlauer, Till F. M.; Diez-Fairen, Monica; Simon-Sanchez, Javier; Lleo, Alberto; Zetterberg, Henrik; Nygaard, Marianne; Blauwendraat, Cornelis; Savage, Jeanne E.; Mengel-From, Jonas; Moreno-Grau, Sonia; Wagner, Michael; Fortea, Juan; Keogh, Michael J.; Blennow, Kaj; Skoog, Ingmar; Friese, Manuel A.; Pletnikova, Olga; Zulaica, Miren; Lage, Carmen; de Rojas, Itziar; Riedel-Heller, Steffi; Illan-Gala, Ignacio; Wei, Wei; Jeune, Bernard; Orellana, Adelina; Bergh, Florian Then; Wang, Xue; Hulsman, Marc; Beker, Nina; Tesi, Niccolo; Morris, Christopher M.; Indakoetxea, Begona; Collij, Lyduine E.; Scherer, Martin; Morenas-Rodriguez, Estrella; Ironside, James W.; van Berckel, Bart N. M.; Alcolea, Daniel; Wiendl, Heinz; Strickland, Samantha L.; Pastor, Pau; Rodriguez Rodriguez, Eloy; Boeve, Bradley F.; Petersen, Ronald C.; Ferman, Tanis J.; van Gerpen, Jay A.; Reinders, Marcel J. T.; Uitti, Ryan J.; Tarraga, Lluis; Maier, Wolfgang; Dols-Icardo, Oriol; Kawalia, Amit; Dalmasso, Maria Carolina; Boada, Merce; Zettl, Uwe K.; van Schoor, Natasja M.; Beekman, Marian; Allen, Mariet; Masliah, Eliezer; Lopez de Munain, Adolfo; Pantelyat, Alexander; Wszolek, Zbigniew K.; Ross, Owen A.; Dickson, Dennis W.; Graff-Radford, Neill R.; Knopman, David; Rademakers, Rosa; Lemstra, Afina W.; Pijnenburg, Yolande A. L.; Scheltens, Philip; Gasser, Thomas; Chinnery, Patrick F.; Hemmer, Bernhard; Huisman, Martijn A.; Troncoso, Juan; Moreno, Fermin; Nohr, Ellen A.; Sorensen, Thorkild I. A.; Heutink, Peter; Sanchez-Juan, Pascual; Posthuma, Danielle; Clarimon, Jordi; Christensen, Kaare; Ertekin-Taner, Nilufer; Scholz, Sonja W.; Ramirez, Alfredo; Ruiz, Agustin; Slagboom, Eline; van der Flier, Wiesje M. und Holstege, Henne
(2019):
A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.
In: Acta Neuropathologica, Bd. 138, Nr. 2: S. 237-250
[PDF, 1MB]
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]