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Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy. (Neuromuscul Disord 2005, 15:851-7)
Horváth R, Schoser BG, Müller-Höcker J, Völpel M, Jaksch M, Lochmüller H
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Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. (Nat Genet 2005, 37:1312-4)
Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schöneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schröder JM, Lochmüller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K
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Mutations in dynamin 2 cause dominant centronuclear myopathy. (Nat Genet 2005, 37:1207-9)
Bitoun M, Maugenre S, Jeannet PY, Lacène E, Ferrer X, Laforêt P, Martin JJ, Laporte J, Lochmüller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P
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Promoter dependence of plasmid-pluronics targeted alpha galactosidase A expression in skeletal muscle of Fabry mice. (Mol Ther 2005, 12:985-90)
Lavigne MD, Pohlschmidt M, Novo JF, Higgins B, Alakhov V, Lochmuller H, Sakuraba H, Goldspink G, MacDermot K, Górecki DC
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A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. (Am J Hum Genet 2005, 77:297-304)
Vorgerd M, van der Ven PF, Bruchertseifer V, Lowe T, Kley RA, Schroder R, Lochmuller H, Himmel M, Koehler K, Furst DO, Huebner A
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Mitochondrial changes in skeletal muscle in amyotrophic lateral sclerosis and other neurogenic atrophies. (Brain 2005, 128:1870-6)
Krasnianski A, Deschauer M, Neudecker S, Gellerich FN, Müller T, Schoser BG, Krasnianski M, Zierz S
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HIV-induced chorea: evidence for basal ganglia dysregulation by SPECT. (J Neurol 2005, 252:356-8)
Sporer B, Linke R, Seelos K, Paul R, Klopstock T, Pfister HW
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Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. (J Neurol 2005, 252:538-47)
Fischer D, Walter MC, Kesper K, Petersen JA, Aurino S, Nigro V, Kubisch C, Meindl T, Lochmüller H, Wilhelm K, Urbach H, Schröder R
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LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. (Brain 2005, 128:732-42)
Sáenz A, Leturcq F, Cobo AM, Poza JJ, Ferrer X, Otaegui D, Camaño P, Urtasun M, Vílchez J, Gutiérrez-Rivas E, Emparanza J, Merlini L, Paisán C, Goicoechea M, Blázquez L, Eymard B, Lochmuller H, Walter M, Bonnemann C, Figarella-Branger D, Kaplan JC, Urtizberea JA, Martí-Massó JF, López de Munain A
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An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome. (Neurology. 2005 Aug 9;65(3):463-5)
Müller JS, Stucka R, Neudecker S, Zierz S, Schmidt C, Huebner A, Lochmüller H, Abicht A.
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An Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X). (J Neurol Neurosurg Psychiatry. 2005 Jul;76(7):1039-40)
Soltanzadeh P, Müller JS, Ghorbani A, Abicht A, Lochmüller H, Soltanzadeh A.
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Localization of UDP-GlcNAc 2-epimerase/ManAc kinase (GNE) in the Golgi complex and the nucleus of mammalian cells. (Exp Cell Res. 2005 Apr 1;304(2):365-79. Epub 2004 Dec 19.)
Krause S, Hinderlich S, Amsili S, Horstkorte R, Wiendl H, Argov Z, Mitrani-Rosenbaum S, Lochmüller H.
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No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation. (Biochem Biophys Res Commun. 2005 Mar 4;328(1):221-6.)
Salama I, Hinderlich S, Shlomai Z, Eisenberg I, Krause S, Yarema K, Argov Z, Lochmuller H, Reutter W, Dabby R, Sadeh M, Ben-Bassat H, Mitrani-Rosenbaum S.
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Evoked potentials during active horizontal head rotations in patients with vertigo. (Neurol Res. 2005 Sep;27(6):666-71.)
Schoser BG, Lorenz J, Zangemeister WH.
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Lipid lowering drug and other toxic myopathies (Internist (Berl). 2005 Nov;46(11):1198-206.)
Schoser BG, Pongratz D.
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Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H. (Ann Neurol. 2005 Apr;57(4):591-5.)
Schoser BG, Frosk P, Engel AG, Klutzny U, Lochmüller H, Wrogemann K.
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Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype. (Neurology. 2005 Jan 25;64(2):368-70.)
Anneser JM, Pongratz DE, Podskarbi T, Shin YS, Schoser BG.
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Long-term MRI and clinical follow-up of symptomatic and presymptomatic carriers of dysferlin gene mutations. (Acta Myol. 2005 Jul;24(1):6-16.)
Brummer D, Walter MC, Palmbach M, Knirsch U, Karitzky J, Tomczak R, Braun C, Grundhoff N, Bornemann A, Müller CR, Lochmüller H, Schreiber H.
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Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family (Ideggyogy Sz. 2005 Jan 20;58(1-2):52-8.)
Horváth R, Walter MC, Lochmüller H, Hübner A, Karcagi V, Pikó H, Timár L, Komoly S.
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Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy. (Neuromuscul Disord. 2005 Jan;15(1):40-4.)
Walter MC, Witt TN, Weigel BS, Reilich P, Richard P, Pongratz D, Bonne G, Wehnert MS, Lochmüller H.
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Treatment of glycogenosis type V with ketogenic diet. (Ann Neurol. 2005 Aug;58(2):341.)
Busch V, Gempel K, Hack A, Müller K, Vorgerd M, Lochmüller H, Baumeister FA.
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126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands. (Neuromuscul Disord. 2005 Jul;15(7):498-512.)
Beeson D, Hantaï D, Lochmüller H, Engel AG.
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Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. (Ann Neurol. 2005 Mar;57(3):415-24.)
Auer-Grumbach M, Schlotter-Weigel B, Lochmüller H, Strobl-Wildemann G, Auer-Grumbach P, Fischer R, Offenbacher H, Zwick EB, Robl T, Hartl G, Hartung HP, Wagner K, Windpassinger C; Austrian Peripheral Neuropathy Study Group.
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Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants. (Eur J Paediatr Neurol. 2005;9(1):7-12. Epub 2004 Dec 13.)
Barisic N, Müller JS, Paucic-Kirincic E, Gazdik M, Lah-Tomulic K, Pertl A, Sertic J, Zurak N, Lochmüller H, Abicht A.
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125th ENMC International Workshop: Neuromuscular disorders in the Roma (Gypsy) population, 23-25 April 2004, Naarden, The Netherlands. (Neuromuscul Disord. 2005 Jan;15(1):65-71. Epub 2004 Nov 26.)
Kalaydjieva L, Lochmüller H, Tournev I, Baas F, Beres J, Colomer J, Guergueltcheva V, Herrmann R, Karcagi V, King R, Miyata T, Müllner-Eidenböck A, Okuda T, Milic Rasic V, Santos M, Talim B, Vilchez J, Walter M, Urtizberea A, Merlini L.
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Antisense oligonucleotides and short interfering RNAs silencing the cyclin-dependent kinase inhibitor p21 improve proliferation of Duchenne muscular dystrophy patients' primary skeletal myoblasts. (J Mol Med. 2005 Jan;83(1):64-71. Epub 2004 Nov 5.)
Endesfelder S, Kliche A, Lochmüller H, von Moers A, Speer A.
