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Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. (Brain. 2008 Mar;131(Pt 3):747-59.)
Mihaylova V, Müller JS, Vilchez JJ, Salih MA, Kabiraj MM, D'Amico A, Bertini E, Wölfle J, Schreiner F, Kurlemann G, Rasic VM, Siskova D, Colomer J, Herczegfalvi A, Fabriciova K, Weschke B, Scola R, Hoellen F, Schara U, Abicht A, Lochmüller H.
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An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. (Am J Hum Genet. 2008 Jan;82(1):88-99.)
Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, Löscher WN, Wagner K, Lochmüller H, Vincent JB, Quasthoff S.
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GNE protein expression and subcellular distribution are unaltered in HIBM. (Neurology. 2007 Aug 14;69(7):655-9.Click here to read )
Krause S, Aleo A, Hinderlich S, Merlini L, Tournev I, Walter MC, Argov Z, Mitrani-Rosenbaum S, Lochmüller H.
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Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. (Brain. 2007 Jun;130(Pt 6):1485-96.)
Walter MC, Reilich P, Huebner A, Fischer D, Schröder R, Vorgerd M, Kress W, Born C, Schoser BG, Krause KH, Klutzny U, Bulst S, Frey JR, Lochmüller H.
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Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. (Brain. 2007 Jun;130(Pt 6):1497-506.)
Müller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, Santos M, Schara U, Deschauer M, Shevell M, Poulin C, Dias A, Soudo A, Hietala M, Aärimaa T, Krahe R, Karcagi V, Huebner A, Beeson D, Abicht A, Lochmüller H.
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The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. (Brain. 2007 Aug;130(Pt 8):2037-44.)
Gempel K, Topaloglu H, Talim B, Schneiderat P, Schoser BG, Hans VH, Pálmafy B, Kale G, Tokatli A, Quinzii C, Hirano M, Naini A, DiMauro S, Prokisch H, Lochmüller H, Horvath R.
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Creatine improves health and survival of mice. (Neurobiol Aging. 2007 Apr 6)
Bender A, Beckers J, Schneider I, Hölter SM, Haack T, Ruthsatz T, Vogt-Weisenhorn DM, Becker L, Genius J, Rujescu D, Irmler M, Mijalski T, Mader M, Quintanilla-Martinez L, Fuchs H, Gailus-Durner V, de Angelis MH, Wurst W, Schmidt J, Klopstock T
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Linker molecules between laminins and dystroglycan ameliorate laminin-{alpha}2-deficient muscular dystrophy at all disease stages. (J Cell Biol. 2007 Mar 26;176(7):979-93)
Meinen S, Barzaghi P, Lin S, Lochmuller H, Ruegg MA
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The ubiquitin-selective chaperone CDC-48/p97 links myosin assembly to human myopathy. (Nat Cell Biol. 2007 Mar 18)
Janiesch PC, Kim J, Mouysset J, Barikbin R, Lochmuller H, Cassata G, Krause S, Hoppe T
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Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys (Neurology. 2007 Jan 2;68(1):56-8)
Horvath R, Kley RA, Lochmuller H, Vorgerd M
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A large german kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene (Muscle Nerve. 2007 Jan 9)
Schoser BG, Schroder JM, Grimm T, Sternberg D, Kress W
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Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. (Am J Hum Genet. 2007 Mar;80(3):478-84.)
Mayr JA, Merkel O, Kohlwein SD, Gebhardt BR, Bohles H, Fotschl U, Koch J, Jaksch M, Lochmuller H, Horvath R, Freisinger P, Sperl W
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Dok-7 Mutations Underlie a Neuromuscular Junction Synaptopathy. (Science 2006, Aug 17)
Beeson D, Higuchi O, Palace J, Cossins J, Spearman H, Maxwell S, Newsom-Davis J, Burke G, Fawcett P, Motomura M, Müller JS, Lochmüller H, Slater C, Vincent A, Yamanashi Y
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Pathological consequences of mutant VCP/p97 on human striated muscle and in vitro. (Brain 2006, Aug 17)
Hübbers CU, Clemen CS, Kesper K, Böddrich A, Hofmann A, Kämäräinen O, Tolksdorf K, Stumpf M, Reichelt J, Roth U, Krause S, Watts G, Kimonis V, Wattjes MP, Reimann J, Thal DO, Biermann K, Evert BO, Lochmüller H, Wanker EE, Schoser BG, Noegel AA, Schröder R
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Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1). (Neuromusc Disord 2006, 16:541-547)
Wallefeld W, Krause S, Nowak KJ, Horvath R, Molnar Z, Szabo M, Nishino I, Lochmüller H, Laing NG
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Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. (Am J Hum Genet 2006, 79:303-312)
Hoffmann K, Müller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I, Delague V, Boltshauser E, Talim B, Horvath R, Robinson PN, Lochmüller H, Hübner C, Mundlos S
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Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. (Brain 2006, 129:1674-1684)
Horvath R, Hudson G, Ferrari G, Futterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M, Chinnery PF
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Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA). (J Neurol Neurosurg Psychiatry. 2006 Jan;77(1):74-6.)
Horváth R, Abicht A, Holinski-Feder E, Laner A, Gempel K, Prokisch H, Lochmüller H, Klopstock T, Jaksch M
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Impaired receptor clustering in CMS patients with novel RAPSN mutations. (Neurology 2006, 67:1159-1164)
Müller JS, Baumeister SK, Milic-Rasic V, Krause S, Todorovic S, Kugler K, Müller-Felber W, Abicht A, Lochmüller H
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CHRND mutation causes a congenital myasthenic syndrome by impairing coclustering of the acetylcholine receptor with rapsyn. (Brain 2006, 129:2784-2793)
Müller JS, Baumeister SK, Schara U, Krause S, von der Hagen M, Huebner A, Lochmüller H, Abicht A
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Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. (Brain. 2006 Jul;129(Pt 7):1674-84)
Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M, Chinnery PF
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Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy. (Neuromusc Disord 2006, 16:432-436)
Müller JS, Piko H, Schoser BGH, Schlotter-Weigel B, Reilich P, Gürstner S, Born C, Karcagi V, Pongratz D, Lochmüller H, Walter MC
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Chronic progressive external ophthalmoplegia: MR spectroscopy and MR diffusion studies in the brain. (AJR Am J Roentgenol. 2006 Sep;187(3):820-4)
Heidenreich JO, Klopstock T, Schirmer T, Saemann P, Mueller-Felber W, Auer DP
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Long-term improvement of a slow-channel congenital myasthenic syndrome with fluoxetine. (Neuromusc Disord 2006, 16:329-333)
Colomer J, Müller JS, Vernet A, Nascimeinto A, Pons M, Gonzalez V, Abicht A, Lochmüller H
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Adenovirus vectors based on human Ad19a have a high potential for human muscle-directed gene therapy. (Hum Gene Ther 2006, 17:193-205)
Thirion C, Lochmüller H, Ruzsics Z, Boelhauve M, König C, Thedieck C, Kutik S, Geiger C, Kochanek S, Volpers C, Burgert HG
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Coenzyme Q10 deficiency may cause isolated myopathy. (Neurology 2006, 66:253-255)
Horvath R, Schneiderat P, Schoser BGH, Gempel K, Neuen-Jakob E, Plöger H, Müller-Höcker J, Pongratz DE, Naini A, DiMauro S, Lochmüller H
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Facing the genetic heterogeneity in neuromuscular disorders - linkage analysis as an economic diagnostic approach towards molecular diagnosis. (Neuromuscul Disord 2006; 16:4-13)
Von der Hagen M, Schallner J, Kaindl AM, Koehler K, Mitzscherling P, Abicht A, Grieben U, Korinthenberg R, Kress W, von Moers A, Müller JS, Schara U, Vorgerd M, Walter MC, Müller-Reible C, Hübner C, Lochmüller H, Hübner A
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DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression. (Hum Mol Genet. 2006; 15:1808-1815)
Margolis JM, Schoser BG, Moseley ML, Day JW, Ranum LP
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Outcome and effect of pregnancy in myotonic dystrophy type 2. (Neurology. 2006; 66:579-580)
Rudnik-Schöneborn S, Schneider-Gold C, Raabe U, Kress W, Zerres K, Schoser BG
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