Publikationen 2011
- Abicht A, Kröger S, Schoser B. Neuromuskuläre Signalübertragung im Erwachsenenalter. Nervenarzt. 2011 Jun 1;82(6):707–11.
- Freilinger T, Ackl N, Ebert A, Schmidt C, Rautenstrauss B, Dichgans M, Danek A. A novel mutation in CACNA1A associated with hemiplegic migraine, cerebellar dysfunction and late-onset cognitive decline. J Neurol Sci. 2011 Jan 15;300(1-2):160–3.
- Fugier C, Klein AF, Hammer C, Vassilopoulos S, Ivarsson Y, Toussaint A, Tosch V, Vignaud A, Ferry A, Messaddeq N, Kokunai Y, Tsuburaya R, de la Grange P, Dembele D, Francois V, Precigout G, Boulade-Ladame C, Hummel M-C, Lopez de Munain A, Sergeant N, Laquerrière A, Thibault C, Deryckere F, Auboeuf D, Garcia L, Zimmermann P, Udd B, Schoser B, Takahashi MP, Nishino I, Bassez G, Laporte J, Furling D, Charlet-Berguerand N. Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. Nat Med. 2011 Jun;17(6):720–5.
- Guergueltcheva V, Müller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Mallebrera CJ, Nascimento A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A, Lochmüller H. Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations. J Neurol. 2011 Oct 6;
- Hicks D, Sarkozy A, Muelas N, Koehler K, Huebner A, Hudson G, Chinnery PF, Barresi R, Eagle M, Polvikoski T, Bailey G, Miller J, Radunovic A, Hughes PJ, Roberts R, Krause S, Walter MC, Laval SH, Straub V, Lochmüller H, Bushby K. A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy. Brain. 2011 Jan;134(Pt 1):171–82.
- Jones K, Jin B, Iakova P, Huichalaf C, Sarkar P, Schneider-Gold C, Schoser B, Meola G, Shyu A-B, Timchenko N, Timchenko L. RNA Foci, CUGBP1, and ZNF9 are the primary targets of the mutant CUG and CCUG repeats expanded in myotonic dystrophies type 1 and type 2. Am J Pathol. 2011 Nov;179(5):2475–89.
- Klymiuk N, Thirion C, Burkhardt K, Wuensch A, Krause S, Richter A, Kessler B, Zakhartchenko V, Kurome M, Nagashima H, Schoser B, Lochmüller H, Walter MC, Wolf E. 238 tailored pig model of duchenne muscular dystrophy. Reprod Fertil Dev. 2011;24(1):231–231.
- Lehtokari V-L, Pelin K, Herczegfalvi A, Karcagi V, Pouget J, Franques J, Pellissier JF, Figarella-Branger D, von der Hagen M, Huebner A, Schoser B, Lochmüller H, Wallgren-Pettersson C. Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. Neuromuscul Disord. 2011 Aug;21(8):556–62.
- Mayr JA, Zimmermann FA, Horváth R, Schneider H-C, Schoser B, Holinski-Feder E, Czermin B, Freisinger P, Sperl W. Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children. Neuromuscul Disord. 2011 Nov;21(11):803–8.
- Poparic I, Schreibmayer W, Schoser B, Desoye G, Gorischek A, Miedl H, Hochmeister S, Binder J, Quasthoff S, Wagner K, Windpassinger C, Malle E. Four and a half LIM protein 1C (FHL1C): a binding partner for voltage-gated potassium channel K(v1.5). PLoS ONE. 2011;6(10):e26524.
- Rautenstrauss B. Targeting inherited peripheral neuropathies in the postgenomic era. Neurology. 2011 Aug 9;77(6):520–1.
- Reilich P, Horvath R, Krause S, Schramm N, Turnbull DM, Trenell M, Hollingsworth KG, Gorman GS, Hans VH, Reimann J, MacMillan A, Turner L, Schollen A, Witte G, Czermin B, Holinski-Feder E, Walter MC, Schoser B, Lochmüller H. The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene. J Neurol. 2011 Nov;258(11):1987–97.
- Reilich P, Krause S, Schramm N, Klutzny U, Bulst S, Zehetmayer B, Schneiderat P, Walter MC, Schoser B, Lochmüller H. A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A). J Neurol. 2011 Aug;258(8):1437–44.
- Rotthier A, Penno A, Rautenstrauss B, Auer-Grumbach M, Stettner GM, Asselbergh B, Van Hoof K, Sticht H, Lévy N, Timmerman V, Hornemann T, Janssens K. Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I. Hum Mutat. 2011 Jun;32(6):E2211–2225.
- Schessl J, Schuberth M, Reilich P, Schneiderat P, Strigl-Pill N, Walter MC, Schlotter-Weigel B, Schoser B. Long-term efficiency of intravenously administered immunoglobulin in anti-Yo syndrome with paraneoplastic cerebellar degeneration. J Neurol. 2011 May;258(5):946–7.
- Schessl J, Feldkirchner S, Kubny C, Schoser B. Reducing body myopathy and other FHL1-related muscular disorders. Semin Pediatr Neurol. 2011 Dec;18(4):257–63.
- Schoser PDB, Zierz S. Neuromuskuläre Erkrankungen. Nervenarzt. 2011 Jun 1;82(6):695–6.
- Scott AP, Laing NG, Mastaglia F, Needham M, Walter MC, Dalakas MC, Allcock RJN. Recombination mapping of the susceptibility region for sporadic inclusion body myositis within the major histocompatibility complex. J Neuroimmunol. 2011 Jun;235(1-2):77–83.
- Senderek J, Müller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Mallebrera CJ, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hübner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmüller H. Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am J Hum Genet. 2011 Feb 11;88(2):162–72.
- Udd B, Meola G, Krahe R, Wansink DG, Bassez G, Kress W, Schoser B, Moxley R. Myotonic dystrophy type 2 (DM2) and related disorders report of the 180th ENMC workshop including guidelines on diagnostics and management 3-5 December 2010, Naarden, The Netherlands. Neuromuscul Disord. 2011 Jun;21(6):443–50.
- Ullrich ND, Fischer D, Kornblum C, Walter MC, Niggli E, Zorzato F, Treves S. Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle. Hum Mutat. 2011 Mar;32(3):309–17.
- Wenninger S, Schoser PDB. Angeborene und endogene endokrine Myopathien. Z Rheumatol. 2011 Nov 1;70(9):760–6.
- Wenninger S, Schoser B. Therapie neuromuskulärer Erkrankungen. Von symptomatischen Maßnahmen bis zu komplexen Stufentherapien. DNP. 2011;12(7-8):35–46.
- Zu T, Gibbens B, Doty NS, Gomes-Pereira M, Huguet A, Stone MD, Margolis J, Peterson M, Markowski TW, Ingram MAC, Nan Z, Forster C, Low WC, Schoser B, Somia NV, Clark HB, Schmechel S, Bitterman PB, Gourdon G, Swanson MS, Moseley M, Ranum LPW. Non-ATG-initiated translation directed by microsatellite expansions. Proc Natl Acad Sci USA. 2011 Jan 4;108(1):260–5.
