- Variable reduction of caveolin-3 in patients with LGMD2B/MM. (J Neurol)
Walter MC, Braun C, Vorgerd M, Poppe M, Thirion C, Schmidt C, Schreiber H, Knirsch UI, Brummer D, Müller-Felber W, Pongratz D, Müller-Höcker J, Huebner A, Lochmüller H
- A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation. (Neuromuscul Disord)
Krause S, Schlotter-Weigel B, Walter MC, Najmabadi H, Wiendl H, Müller-Höcker J, Müller-Felber W, Pongratz D, Lochmüller H
- [Importance of inflammatory myopathies in practice] (Schmerz)
Pongratz D
- Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. (Am J Hum Genet)
Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, Chrast R, Verheijen MH, Lemke G, Battaloglu E, Parman Y, Erdem S, Tan E, Topaloglu H, Hahn A, Müller-Felber W, Rizzuto N, Fabrizi GM, Stuhrmann M, Rudnik-Schöneborn S, Züchner S, Michael Schröder J, Buchheim E, Straub V, Klepper J, Huehne K, Rautenstrauss B, Büttner R, Nelis E, Zerres K
- Characterization of neuronal nicotinic acetylcholine receptors in the membrane of unmyelinated human C-fiber axons by in vitro studies. (J Neurophysiol)
Lang PM, Burgstahler R, Sippel W, Irnich D, Schlotter-Weigel B, Grafe P
- [Diagnostics and therapy of myositis] (Fortschr Neurol Psychiatr)
Müller-Felber W
- A tRNA(Ala) mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy. (J Med Genet)
Horváth R, Lochmüller H, Scharfe C, Do BH, Oefner PJ, Müller-Höcker J, Schoser BG, Pongratz D, Auer DP, Jaksch M
- Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers. (J Neurol)
Butz M, Koch MC, Müller-Felber W, Lemmers RJ, van der Maarel SM, Schreiber H
- Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases. (Eur J Hum Genet)
Burwinkel B, Hu B, Schroers A, Clemens PR, Moses SW, Shin YS, Pongratz D, Vorgerd M, Kilimann MW
- Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. (Neurology)
Müller JS, Mildner G, Müller-Felber W, Schara U, Krampfl K, Petersen B, Petrova S, Stucka R, Mortier W, Bufler J, Kurlemann G, Huebner A, Merlini L, Lochmüller H, Abicht A
- Successful treatment of muscle sarcoidosis with thalidomide. (Acta Myol)
Walter MC, Lochmüller H, Schlotter-Weigel B, Meindl T, Müller-Felber W
- Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. (Ann Neurol)
Kubisch C, Schoser BG, von Düring M, Betz RC, Goebel HH, Zahn S, Ehrbrecht A, Aasly J, Schroers A, Popovic N, Lochmüller H, Schröder JM, Brüning T, Malin JP, Fricke B, Meinck HM, Torbergsen T, Engels H, Voss B, Vorgerd M
- [Diagnosis and therapy of vasculitic neuropathy. Consensus statement of the German Centers for Neuromuscular Disease] (Fortschr Neurol Psychiatr)
Heuss D, Schlotter-Weigel B, Sommer C,
- Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase. (Neuromuscul Disord)
Schmidt C, Abicht A, Krampfl K, Voss W, Stucka R, Mildner G, Petrova S, Schara U, Mortier W, Bufler J, Huebner A, Lochmüller H
- [Neuromuscular complications after allogeneic bone marrow transplantation] (Nervenarzt)
Padovan CS, Sostak P, Reich P, Kolb HJ, Müller-Felber W, Straube A
