Publikationen 2012
- Binder JS, Weidemann F, Schoser B, Niemann M, Machann W, Beer M, Plank G, Schmidt A, Bisping E, Poparic I, Lafer I, Stojakovic T, Quasthoff S, Vincent JB, Rienmueller R, Speicher MR, Berghold A, Pieske B, Windpassinger C. Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene. Circ Cardiovasc Genet. 2012 Oct 1;5(5):490–502.
- Blonsky K, Monckton D, Wieringa B, Schoser B, Day JW, Engelen B van. 2010 Marigold therapeutic strategies for myotonic dystrophy. Neuromuscul Disord. 2012 Jan;22(1):87–94.
- Bulst S, Holinski-Feder E, Payne B, Abicht A, Krause S, Lochmüller H, Chinnery PF, Walter MC, Horvath R. In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion. Mol Genet Metab. 2012 Sep;107(1-2):95–103.
- Faenza I, Blalock W, Bavelloni A, Schoser B, Fiume R, Pacella S, Piazzi M, D’Angelo A, Cocco L. A role for PLCβ1 in myotonic dystrophies type 1 and 2. FASEB J. 2012 Jul;26(7):3042–8.
- Feldkirchner S, Schessl J, Müller S, Schoser B, Hanisch F-G. Patient-specific protein aggregates in myofibrillar myopathies: laser microdissection and differential proteomics for identification of plaque components. Proteomics. 2012 Dec;12(23-24):3598–609.
- Fledrich R, Schlotter-Weigel B, Schnizer TJ, Wichert SP, Stassart RM, Meyer zu Hörste G, Klink A, Weiss BG, Haag U, Walter MC, Rautenstrauss B, Paulus W, Rossner MJ, Sereda MW. A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients. Brain. 2012 Jan;135(Pt 1):72–87.
- Horvath R, Holinski-Feder E, Neeve VCM, Pyle A, Griffin H, Ashok D, Foley C, Hudson G, Rautenstrauss B, Nürnberg G, Nürnberg P, Kortler J, Neitzel B, Bässmann I, Rahman T, Keavney B, Loughlin J, Hambleton S, Schoser B, Lochmüller H, Santibanez-Koref M, Chinnery PF. A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy. Mov Disord. 2012 May;27(6):789–93.
- Patel TT, Banugaria SG, Case LE, Wenninger S, Schoser B, Kishnani PS. The impact of antibodies in late-onset Pompe disease: a case series and literature review. Mol Genet Metab. 2012 Jul;106(3):301–9.
- Pevzner A, Schoser B, Peters K, Cosma N-C, Karakatsani A, Schalke B, Melms A, Kröger S. Anti-LRP4 autoantibodies in AChR- and MuSK-antibody-negative myasthenia gravis. J Neurol. 2012 Mar;259(3):427–35.
- Regnery C, Kornblum C, Hanisch F, Vielhaber S, Strigl-Pill N, Grunert B, Müller-Felber W, Glocker FX, Spranger M, Deschauer M, Mengel E, Schoser B. 36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy. J Inherit Metab Dis. 2012 Sep;35(5):837–45.
- Sarkozy A, Deschauer M, Carlier R-Y, Schrank B, Seeger J, Walter MC, Schoser B, Reilich P, Leturq F, Radunovic A, Behin A, Laforet P, Eymard B, Schreiber H, Hicks D, Vaidya SS, Gläser D, Carlier PG, Bushby K, Lochmüller H, Straub V. Muscle MRI findings in limb girdle muscular dystrophy type 2L. Neuromuscul Disord. 2012 Oct 1;22 Suppl 2:S122–129.
- Schessl J, Kress W, Schoser B. Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy. Muscle Nerve. 2012 May;45(5):740–2.
- Schoser B. State of the Art – Therapie erworbener und erblicher Myopathien. PharmaFocus ZNS. 2012;9:48–50.
- Schüller A, Schoser B. Aktuelle Aspekte zur Klinik, Diagnose und Therapie von Muskelerkrankungen. Neurol Rehabil. 2012;18:3–18.
- Schüller A, Wenninger S, Strigl-Pill N, Schoser B. Toward deconstructing the phenotype of late-onset Pompe disease. Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):80–8.
- Tedesco FS, Gerli MFM, Perani L, Benedetti S, Ungaro F, Cassano M, Antonini S, Tagliafico E, Artusi V, Longa E, Tonlorenzi R, Ragazzi M, Calderazzi G, Hoshiya H, Cappellari O, Mora M, Schoser B, Schneiderat P, Oshimura M, Bottinelli R, Sampaolesi M, Torrente Y, Broccoli V, Cossu G. Transplantation of genetically corrected human iPSC-derived progenitors in mice with limb-girdle muscular dystrophy. Sci Transl Med. 2012 Jun 27;4(140):140ra89.
