Publikationen 2016
- Altmann J, Büchner B, Nadaj-Pakleza A, Schäfer J, Jackson S, Lehmann D, Deschauer M, Kopajtich R, Lautenschläger R, Kuhn KA, Karle K, Schöls L, Schulz JB, Weis J, Prokisch H, Kornblum C, Claeys KG, Klopstock T. Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry. J Neurol. 2016 Mar 19;
- Bender A, Klopstock T. Creatine for neuroprotection in neurodegenerative disease: end of story?. Amino Acids. 2016 Jan 9;
- Harris E, Bladen C, Mayhew A, James M, Bettinson, Moore U, Smith F, Rufibach L, Cnaan A, Bharucha-Goebel D, Blamire A, Bravver E, Carlier P, Day J, Diaz-Manera J, Eagle M, Grieben U, Harms M, Jones K, Lochmüller H, Mendell J, Mori-Yoshimura M, Paradas C, Pegoraro E, Pestronk A, Salort-Campana E, Schreiber-Katz O, Semplicini C, Spuler S, Stojkovic T, Straub V, Takeda S, Tesi R, Walter M, for the Jain COS Consortium, Bushby K. The Clinical Outcome Study for Dysferlinopathy: an international multicentre study. Neurology Genetics. 2016;
- Klug C, Schreiber-Katz O, Thiele S, Schorling E, Zowe J, Reilich P, Walter M, Nagels K. Disease burden of Spinal Muscular Atrophy in Germany. OJRD. 2016;
- Kremer LS, Distelmaier F, Alhaddad B, Hempel M, Iuso A, Küpper C, Mühlhausen C, Kovacs-Nagy R, Satanovskij R, Graf E, Berutti R, Eckstein G, Durbin R, Sauer S, Hoffmann GF, Strom TM, Santer R, Meitinger T, Klopstock T, Prokisch H, Haack TB. Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy. Am J Hum Genet. 2016 Feb 4;98(2):358–62.
- Kuhn M, Gläser D, Joshi PR, Zierz S, Wenninger S, Schoser B, Deschauer M. Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy. J Neurol. 2016 Apr;263(4):743–50.
- Kumar S, Rathkolb B, Kemter E, Sabrautzki S, Michel D, Adler T, Becker L, Beckers J, Busch DH, Garrett L, Hans W, Hölter SM, Horsch M, Klingenspor M, Klopstock T, Rácz I, Rozman J, Vargas Panesso IL, Vernaleken A, Zimmer A, Fuchs H, Gailus-Durner V, Hrabě de Angelis M, Wolf E, Aigner B. Generation and Standardized, Systemic Phenotypic Analysis of Pou3f3L423P Mutant Mice. PLoS ONE. 2016;11(3):e0150472.
- Küpper C, Levin J, Klopstock T. Eisen im alternden Gehirn. Aktuelle Neurologie. 2016 Feb 9;43(01):32–40.
- Lawlor MW, Beggs AH, Buj-Bello A, Childers MK, Dowling JJ, James ES, Meng H, Moore SA, Prasad S, Schoser B, Sewry CA. Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons. J Neuropathol Exp Neurol. 2016 Jan 28;
- Lukacs Z, Nieves-Cobos P, Wenninger S, Evangelista T, Roberts M, Guglieri M, Straub V, Zierz S, Schlotter-Weigel B, Walter M, Reilich P, Klopstock T, Quinlivan R, Hilton-Jones D, Deschauer M, Müller-Felber W, Schoser B. Prevalence of Pompe disease in 3076 patients with hyperCKemia and limb-girdle muscular weakness. Neurology. 2016;
- Maerkens A, Olivé M, Schreiner A, Feldkirchner S, Schessl J, Uszkoreit J, Barkovits K, Güttsches AK, Theis V, Eisenacher M, Tegenthoff M, Goldfarb LG, Schröder R, Schoser B, van der Ven PFM, Fürst DO, Vorgerd M, Marcus K, Kley RA. New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses. Acta Neuropathologica Communications. 2016 Dec;4(1).
- Montagnese F, Wenninger S, Schoser B. “Orbiting around” the orbital myositis: clinical features, differential diagnosis and therapy. J Neurol. 2016 Apr;263(4):631–40.
- Oh SJ, Shcherbakova N, Kostera-Pruszczyk A, Alsharabati M, Dimachkie M, Blanco JM, Brannagan T, Lavrnić D, Shieh PB, Vial C, Meisel A, Komoly S, Schoser B, Sivakumar K, So Y, LEMS Study Group. Amifampridine phosphate (Firdapse ® ) is effective and safe in a phase 3 clinical trial in LEMS: Amifampridine phosphate in LEMS. Muscle & Nerve. 2016 May;53(5):717–25.
- Peleg S, Feller C, Forne I, Schiller E, Sévin DC, Schauer T, Regnard C, Straub T, Prestel M, Klima C, Schmitt Nogueira M, Becker L, Klopstock T, Sauer U, Becker PB, Imhof A, Ladurner AG. Life span extension by targeting a link between metabolism and histone acetylation in Drosophila. EMBO Rep. 2016 Mar;17(3):455–69.
- Schüle R, Wiethoff S, Martus P, Karle KN, Otto S, Klebe S, Klimpe S, Gallenmüller C, Kurzwelly D, Henkel D, Rimmele F, Stolze H, Kohl Z, Kassubek J, Klockgether T, Vielhaber S, Kamm C, Klopstock T, Bauer P, Züchner S, Liepelt-Scarfone I, Schöls L. Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients. Ann Neurol. 2016 Apr;79(4):646–58.
- Stahl K, Wenninger S, Schüller A, Montagnese F, Schoser B. Educational and Professional Qualifications of Adults With Myotonic Dystrophies - A Misleading Perception by the Myopathic Face?. Fortschr Neurol Psychiatr. 2016 Apr;84(4):211–6.
- Sunderkötter C, Nast A, Worm M, Dengler R, Dörner T, Ganter H, Hohlfeld R, Melms A, Melzer N, Rösler K, Schmidt J, Sinnreich M, Walter MC, Wanschitz J, Wiendl H. Guidelines on dermatomyositis - excerpt from the interdisciplinary S2k guidelines on myositis syndromes by the German Society of Neurology. J Dtsch Dermatol Ges. 2016 Mar;14(3):321–38.
- Sunderkötter C, Nast A, Worm M, Dengler R, Dörner T, Ganter H, Hohlfeld R, Melms A, Melzer N, Rösler K, Schmidt J, Sinnreich M, Walter MC, Wanschitz J, Wiendl H. Leitlinie Dermatomyositis - Auszug aus der interdisziplinären S2k-Leitlinie zu Myositissyndromen der deutschen Gesellschaft für Neurologie. JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 2016 Mar;14(3):e1–20.
- Suriyanarayanan S, Auranen M, Toppila J, Paetau A, Shcherbii M, Palin E, Wei Y, Lohioja T, Schlotter-Weigel B, Schön U, Abicht A, Rautenstrauss B, Tyynismaa H, Walter MC, Hornemann T, Ylikallio E. The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy. Neuromolecular Med. 2016 Mar;18(1):81–90.
- Xue Y, Schoser B, Rao AR, Quadrelli R, Vaglio A, Rupp V, Beichler C, Nelson SF, Schapacher-Tilp G, Windpassinger C, Wilcox WR. Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac DeathCLINICAL PERSPECTIVE. Circulation: Cardiovascular Genetics. 2016 Apr;9(2):130–5.
- Yu-Wai-Man P, Hudson G, Klopstock T, Chinnery PF. Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion. Brain. 2016 Mar;139(Pt 3):e18.