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5' Trans-Splicing Repair of the PLEC1 Gene. (J Invest Dermatol 2007)
Wally V, Klausegger A, Koller U, Lochmüller H, Krause S, Wiche G, Mitchell LG, Hintner H, Bauer JW
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Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia. (Eur J Neurol 2007)
Schickel J, Pamminger T, Ehrsam A, Münch S, Huang X, Klopstock T, Kurlemann G, Hemmerich P, Dubiel W, Deufel T, Beetz C
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Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. (Neurogenetics 2007, 8:279-88)
Hehr U, Uyanik G, Gross C, Walter MC, Bohring A, Cohen M, Oehl-Jaschkowitz B, Bird LM, Shamdeen GM, Bogdahn U, Schuierer G, Topaloglu H, Aigner L, Lochmüller H, Winkler J
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Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission. (Expert Rev Mol Med 2007, 9:1-20)
Müller JS, Mihaylova V, Abicht A, Lochmüller H
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Characterization of hereditary inclusion body myopathy myoblasts: possible primary impairment of apoptotic events. (Cell Death Differ 2007, 14:1916-24)
Amsili S, Shlomai Z, Levitzki R, Krause S, Lochmuller H, Ben-Bassat H, Mitrani-Rosenbaum S
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Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. (J Neurol Sci 2007, 263:100-6)
Rohkamm B, Reilly MM, Lochmüller H, Schlotter-Weigel B, Barisic N, Schöls L, Nicholson G, Pareyson D, Laur? M, Janecke AR, Miltenberger-Miltenyi G, John E, Fischer C, Grill F, Wakeling W, Davis M, Pieber TR, Auer-Grumbach M
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Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. (Neuromuscul Disord 2007, 17:698-706)
Müller-Felber W, Horvath R, Gempel K, Podskarbi T, Shin Y, Pongratz D, Walter MC, Baethmann M, Schlotter-Weigel B, Lochmüller H, Schoser B
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Deconstructing pompe disease by analyzing single muscle fibers: to see a world in a grain of sand...''. (Autophagy , 3:546-52)
Raben N, Takikita S, Pittis MG, Bembi B, Marie SK, Roberts A, Page L, Kishnani PS, Schoser BG, Chien YH, Ralston E, Nagaraju K, Plotz PH
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Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited. (Neuropathol Appl Neurobiol 2007, 33:544-59)
Schoser BG, Müller-Höcker J, Horvath R, Gempel K, Pongratz D, Lochmüller H, Müller-Felber W
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Accuracy of botulinum toxin injections in myofascial pain. Response to Gobel et al. Pain 2006;125:82-8. (Pain 2007, 130:299; author reply 299-300)
Reilich P, Schoser BG
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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, 130:1485-96)
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, 130:1497-506)
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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Creatine improves health and survival of mice. (Neurobiol Aging 2007)
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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The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. (Brain 2007, 130:2037-44)
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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The ubiquitin-selective chaperone CDC-48/p97 links myosin assembly to human myopathy. (Nat Cell Biol 2007, 9:379-90)
Janiesch PC, Kim J, Mouysset J, Barikbin R, Lochmüller H, Cassata G, Krause S, Hoppe T
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Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. (Am J Hum Genet 2007, 80:478-84)
Mayr JA, Merkel O, Kohlwein SD, Gebhardt BR, Böhles H, Fötschl U, Koch J, Jaksch M, Lochmüller H, Horváth R, Freisinger P, Sperl W
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A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay. (Neuromuscul Disord 2007, 17:148-56)
Milic A, Daniele N, Lochmüller H, Mora M, Comi GP, Moggio M, Noulet F, Walter MC, Morandi L, Poupiot J, Roudaut C, Bittner RE, Bartoli M, Richard I
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Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. (Brain. 2007 Dec;130(Pt 12):3250-64.)
Kley RA, Hellenbroich Y, van der Ven PF, Fürst DO, Huebner A, Bruchertseifer V, Peters SA, Heyer CM, Kirschner J, Schröder R, Fischer D, Müller K, Tolksdorf K, Eger K, Germing A, Brodherr T, Reum C, Walter MC, Lochmüller H, Ketelsen UP, Vorgerd M.
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GNE protein expression and subcellular distribution are unaltered in HIBM. (Neurology. 2007 Aug 14;69(7):655-9.)
Krause S, Aleo A, Hinderlich S, Merlini L, Tournev I, Walter MC, Argov Z, Mitrani-Rosenbaum S, Lochmüller H.
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Ocular myositis: diagnostic assessment, differential diagnoses, and therapy of a rare muscle disease - five new cases and review. (Clin Ophthalmol. 2007 Mar;1(1):37-42.)
Schoser BG.
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A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene. (Muscle Nerve. 2007 May;35(5):599-606.)
Schoser BG, Schröder JM, Grimm T, Sternberg D, Kress W.
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McLeod myopathy revisited: more neurogenic and less benign. (Brain. 2007 Dec;130(Pt 12):3285-96.)
Hewer E, Danek A, Schoser BG, Miranda M, Reichard R, Castiglioni C, Oechsner M, Goebel HH, Heppner FL, Jung HH.
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Brain imaging and neuropsychology in late-onset dementia due to a novel mutation (R93C) of valosin-containing protein. (Clin Neuropathol. 2007 Sep-Oct;26(5):232-40.)
Krause S, Göhringer T, Walter MC, Schoser BG, Reilich P, Linn J, Pöpperl GE, Frölich L, Hentschel F, Lochmüller H, Danek A.
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Cardiac transplantation in a 14-yr-old patient with mitochondrial encephalomyopathy. (Pediatr Transplant. 2007 Aug;11(5):560-2.)
Schmauss D, Sodian R, Klopstock T, Deutsch MA, Kaczmarek I, Roemer U, Reichart B, Daebritz SH.
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Current status of gene therapy for muscle diseases. (Drug News Perspect. 2007 Jul-Aug;20(6):357-63.)
Thirion C, Lochmüller H.
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What message does the nuclear envelope hold? (Neurology. 2007 May 29;68(22):1879-80.)
Lochmüller H, Wehnert M.
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Linker molecules between laminins and dystroglycan ameliorate laminin-alpha2-deficient muscular dystrophy at all disease stages. (J Cell Biol. 2007 Mar 26;176(7):979-93.)
Meinen S, Barzaghi P, Lin S, Lochmüller H, Ruegg MA.
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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, Lochmüller H, Vorgerd M.
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Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. (Hum Mol Genet. 2007 Dec 1;16(23):2816-33. Epub 2007 Aug 29.)
Zhang Q, Bethmann C, Worth NF, Davies JD, Wasner C, Feuer A, Ragnauth CD, Yi Q, Mellad JA, Warren DT, Wheeler MA, Ellis JA, Skepper JN, Vorgerd M, Schlotter-Weigel B, Weissberg PL, Roberts RG, Wehnert M, Shanahan CM.
