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DateNumber of items: 10.
Journal article
Iankova, Vassilena; Sparber, Peter; Rohani, Mohammad; Dusek, Petr; Buechner, Boriana; Karin, Ivan; Schneider, Susanne A.; Gorriz, Juan M.; Kmiec, Tomasz und Klopstock, Thomas
(2024):
Phenotype and natural history of mitochondrial membrane protein-associated neurodegeneration.
In: Brain, Vol. 147, No. 4: pp. 1389-1398
Cordts, Isabell; Oender, Demet; Traschuetz, Andreas; Kobeleva, Xenia; Karin, Ivan; Minnerop, Martina; Koertvelyessy, Peter; Biskup, Saskia; Forchhammer, Stephan; Binder, Johannes; Tzschach, Andreas; Meiss, Frank; Schmidt, Axel; Kreiss, Martina; Cremer, Kirsten; Mensah, Martin A.; Park, Joohyun; Rautenberg, Maren; Deininger, Natalie; Sturm, Marc; Lingor, Paul; Klopstock, Thomas; Weiler, Markus; Marxreiter, Franz; Synofzik, Matthis; Posch, Christian; Sirokay, Judith; Klockgether, Thomas; Haack, Tobias B. und Deschauer, Marcus
(2022):
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin.
In: Movement Disorders, Vol. 37, No. 8: pp. 1707-1718
[PDF, 7MB]
Bux, Esther Marie; Solis-Mezarino, Victor; Kuhm, Christoph; Northoff, Bernd H.; Karin, Ivan; Klopstock, Thomas; Holdt, Lesca M.; Voelker-Albert, Moritz; Imhof, Axel und Peleg, Shahaf
(2020):
Determining histone H4 acetylation patterns in human peripheral blood mononuclear cells using mass spectrometry.
In: Clinical Mass Spectrometry, Vol. 15: pp. 54-60
Hayer, Stefanie Nicole; Liepelt, Inga; Barro, Christian; Wilke, Carlo; Kuhle, Jens; Martus, Peter; Schoels, Ludger; Schulz, Jörg Bernhard; Reetz, Kathrin; Fedosov, Kathrin; Didszun, Claire; Klockgether, Thomas; Giordano, Ilaria; Pandolfo, Massimo; Depondt, Chantal; Rai, Myriam; Boesch, Sylvia; Nachbauer, Wolfgang; Eigentler, Andreas; Indelicato, Elisabetta; Giunti, Paola; Parkinson, Michael; Manso, Katarina; Thomas-Black, Gilbert; Garcia-Moreno, Hector; Solanky, Nita; Abeti, Rosella; Polke, James; Labrum, Robin; Garrido, Rodriguez de Rivera Francisco Javier; Mascias, Javier; Velasco, Sanchez Sara; Garcia, Secades Sergio; Mariotti, Caterina; Nanetti, Lorenzo; Castaldo, Anna; Mongelli, Alessia; Fichera, Mario; Klopstock, Thomas; Karin, Ivan; Stendel, Claudia; Radelfahr, Florentine; Durr, Alexandra; Biet, Marie; Charles, Perrine; Ewenczyk, Claire; Just, Jennifer; Koutsis, Georgios; Walsh, Richard und Bertini, Enrico
(2020):
NfL and pNfH are increased in Friedreich's ataxia.
In: Journal of Neurology, Vol. 267, No. 5: pp. 1420-1430
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, Vol. 18, No. 7: pp. 631-642
Karin, Ivan; Borggräfe, Ingo; Catarino, Claudia B.; Kuhm, Christoph; Hörtnagel, Konstanze; Biskup, Saskia; Opladen, Thomas; Blau, Nenad; Heinen, Florian und Klopstock, Thomas
(2017):
Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient.
In: Journal of Neurology, Vol. 264, No. 3: pp. 578-582
Ikenberg, Elena; Karin, Ivan; Ertl-Wagner, Birgit; Abicht, Angela; Bulst, Stefanie; Sabine, Krause; Schoser, Benedikt; Reilich, Peter und Walter, Maggie C.
(2017):
Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient.
In: Neuromuscular Disorders, Vol. 27, No. 9: pp. 856-860
This list was generated on Sun Dec 1 04:28:33 2024 CET.