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Targeting inherited peripheral neuropathies in the postgenomic era (Neurology. 2011 Jul 13. [Epub ahead of print])
Rautenstrauss B.
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Reducing Body Myopathy and other FHL1 related muscular disorders (Seminars Ped. Neurol. (accepted).)
Schessl J, Feldkirchner S, Kubny C, Schoser B.
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The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene (J Neurol. 2011 May 5. [Epub ahead of print])
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.
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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):E2211-25. doi: 10.1002/humu.21481. Epub 2011 Feb 24.)
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.
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A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A. (J Neurol. 2011 Feb 20. [Epub ahead of print])
Reilich P, Krause S, Schramm N, Klutzny U, Bulst S, Zehetmayer B, Schneiderat P, Walter MC, Schoser B, Lochmüller H
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Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect (Am J Hum Genet. 2011 Feb 11;88(2):162-72.)
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.
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Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle. (Hum Mutat. 2011 Jan 25. doi: 10.1002/humu.21431. [Epub ahead of print])
Ullrich ND, Fischer D, Kornblum C, Walter MC, Niggli E, Zorzato F, Treves S.
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A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy (Brain. 2011 Jan;134(Pt 1):171-82.)
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.
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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. Epub 2010 Oct 28.)
Freilinger T, Ackl N, Ebert A, Schmidt C, Rautenstrauss B, Dichgans M, Danek A.
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