-
The mouse Trm1-like gene is expressed in neural tissues and plays a role in motor coordination and exploratory behaviour. (Gene 2007, 389:174-85)
Vauti F, Goller T, Beine R, Becker L, Klopstock T, Hölter SM, Wurst W, Fuchs H, Gailus-Durner V, de Angelis MH, Arnold HH
-
Childhood dermatomyositis associated with intracranial tumor and liver cysts. (Eur J Paediatr Neurol 2007, 11:76-80)
Barisi?? N, Jaki??-Razumovi?? J, Harjacek M, Fanin M, Lochmüller H, Lehman I, Angelini C
-
Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy. (Neurogenetics 2007, 8:137-42)
Rudnik-Schöneborn S, Botzenhart E, Eggermann T, Senderek J, Schoser BG, Schröder R, Wehnert M, Wirth B, Zerres K
-
High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia. (Neurology 2006, 67:1926-30)
Beetz C, Nygren AO, Schickel J, Auer-Grumbach M, Bürk K, Heide G, Kassubek J, Klimpe S, Klopstock T, Kreuz F, Otto S, Schüle R, Schöls L, Sperfeld AD, Witte OW, Deufel T
-
Pathological consequences of VCP mutations on human striated muscle. (Brain 2007, 130:381-93)
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 DR, Biermann K, Evert BO, Lochmüller H, Wanker EE, Schoser BG, Noegel AA, Schröder R
-
Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1). (Neuromuscul Disord 2006, 16:541-7)
Wallefeld W, Krause S, Nowak KJ, Dye D, Horváth R, Molnár Z, Szabó M, Hashimoto K, Reina C, De Carlos J, Rosell J, Cabello A, Navarro C, Nishino I, Lochmüller H, Laing NG
-
Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations. (Neurology 2006, 67:1159-64)
Müller JS, Baumeister SK, Rasic VM, Krause S, Todorovic S, Kugler K, Müller-Felber W, Abicht A, Lochmüller H
-
Dok-7 mutations underlie a neuromuscular junction synaptopathy. (Science 2006, 313:1975-8)
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
-
CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn. (Brain 2006, 129:2784-93)
Müller JS, Baumeister SK, Schara U, Cossins J, Krause S, von der Hagen M, Huebner A, Webster R, Beeson D, Lochmüller H, Abicht A
-
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. (Am J Hum Genet 2006, 79:303-12)
Hoffmann K, Muller 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
-
Serum levels of matrix metalloproteinases-2 and -9 and their tissue inhibitors in inflammatory neuromuscular disorders. (Eur Neurol 2006, 55:204-8)
Hurnaus S, Mueller-Felber W, Pongratz D, Schoser BG
-
Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy. (Neuromuscul Disord 2006, 16:432-6)
Müller JS, Piko H, Schoser BG, Schlotter-Weigel B, Reilich P, Gürster S, Born C, Karcagi V, Pongratz D, Lochmüller H, Walter MC
-
Systematic, standardized and comprehensive neurological phenotyping of inbred mice strains in the German Mouse Clinic. (J Neurosci Methods 2006, 157:82-90)
Schneider I, Tirsch WS, Faus-Kessler T, Becker L, Kling E, Busse RL, Bender A, Feddersen B, Tritschler J, Fuchs H, Gailus-Durner V, Englmeier KH, de Angelis MH, Klopstock T
-
DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression. (Hum Mol Genet 2006, 15:1808-15)
Margolis JM, Schoser BG, Moseley ML, Day JW, Ranum LP
-
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. (Brain 2006, 129:1674-84)
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
-
Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine. (Neuromuscul Disord 2006, 16:329-33)
Colomer J, Müller JS, Vernet A, Nascimento A, Pons M, Gonzalez V, Abicht A, Lochmüller H
-
High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. (Nat Genet 2006, 38:515-7)
Bender A, Krishnan KJ, Morris CM, Taylor GA, Reeve AK, Perry RH, Jaros E, Hersheson JS, Betts J, Klopstock T, Taylor RW, Turnbull DM
-
Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. (Hum Genet 2006, 119:422-8)
Wirth B, Brichta L, Schrank B, Lochmüller H, Blick S, Baasner A, Heller R
-
Facing the genetic heterogeneity in neuromuscular disorders: linkage analysis as an economic diagnostic approach towards the molecular diagnosis. (Neuromuscul Disord. 2006 Jan;16(1):4-13. Epub 2005 Dec 27.)
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, Huebner A.
-
Expression of toll-like receptors by human muscle cells in vitro and in vivo: TLR3 is highly expressed in inflammatory and HIV myopathies, mediates IL-8 release and up-regulation of NKG2D-ligands. (FASEB J. 2006 Jan;20(1):118-20. Epub 2005 Nov 17.)
Schreiner B, Voss J, Wischhusen J, Dombrowski Y, Steinle A, Lochmüller H, Dalakas M, Melms A, Wiendl H.
-
Myotonic dystrophies type 1 and 2: a summary on current aspects. (Semin Pediatr Neurol. 2006 Jun;13(2):71-9.)
Schara U, Schoser BG.
-
Extraocular mitochondrial myopathies and their differential diagnoses. (Strabismus. 2006 Jun;14(2):107-13.)
Schoser BG, Pongratz D.
-
140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management. (Neuromuscul Disord. 2006 Jun;16(6):403-13. Epub 2006 May 8.)
Udd B, Meola G, Krahe R, Thornton C, Ranum LP, Bassez G, Kress W, Schoser B, Moxley R.
-
Age related profiles of free amino acids in human skeletal muscle. (Neuro Endocrinol Lett. 2006 Feb-Apr;27(1-2):133-6.)
Stuerenburg HJ, Stangneth B, Schoser BG.
-
Outcome and effect of pregnancy in myotonic dystrophy type 2. (Neurology. 2006 Feb 28;66(4):579-80.)
Rudnik-Schöneborn S, Schneider-Gold C, Raabe U, Kress W, Zerres K, Schoser BG.
-
Prediction of response to IVIg treatment in patients with lower motor neurone disorders. (Eur J Neurol. 2006 Feb;13(2):135-40.)
Strigl-Pill N, König A, Schröder M, Beranek H, Schoser BG, Spaeth M, Pongratz D, Müller-Felber W.
-
Coenzyme Q10 deficiency and isolated myopathy. (Neurology. 2006 Jan 24;66(2):253-5.)
Horvath R, Schneiderat P, Schoser BG, Gempel K, Neuen-Jacob E, Plöger H, Müller-Höcker J, Pongratz DE, Naini A, DiMauro S, Lochmüller H.
-
LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filaments. (Acta Myol. 2006 Oct;25(2):73-6.)
Reilich P, Petersen JA, Vielhaber S, Mawrin C, Schneider-Gold C, Sommer C, Reiners K, Deschauer M, Pongratz D, Lochmüller H, Walter MC.
-
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.
-
Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy. (Biochemistry. 2006 Mar 7;45(9):2968-77.)
Penner J, Mantey LR, Elgavish S, Ghaderi D, Cirak S, Berger M, Krause S, Lucka L, Voit T, Mitrani-Rosenbaum S, Hinderlich S.
-
Unusual features in a boy with the rapsyn N88K mutation. (Neurology. 2006 Dec 26;67(12):2262-3.)
Skeie GO, Aurlien H, Müller JS, Lochmüller H, Norgârd G, Bindoff LA.
-
Stages of sleep pathology in spinocerebellar ataxia type 2 (SCA2). (Neurology. 2006 Dec 12;67(11):1966-72.)
Tuin I, Voss U, Kang JS, Kessler K, Rüb U, Nolte D, Lochmüller H, Tinschert S, Claus D, Krakow K, Pflug B, Steinmetz H, Auburger G.
-
Simultaneous dystrophin and dysferlin deficiencies associated with high-level expression of the coxsackie and adenovirus receptor in transgenic mice. (Am J Pathol. 2006 Dec;169(6):2148-60.)
Shaw CA, Larochelle N, Dudley RW, Lochmuller H, Danialou G, Petrof BJ, Karpati G, Holland PC, Nalbantoglu J.
-
Increased susceptibility to ATP via alteration of P2X receptor function in dystrophic mdx mouse muscle cells. (FASEB J. 2006 Apr;20(6):610-20.)
Yeung D, Zablocki K, Lien CF, Jiang T, Arkle S, Brutkowski W, Brown J, Lochmuller H, Simon J, Barnard EA, Górecki DC.
-
Adenovirus vectors based on human adenovirus type 19a have high potential for human muscle-directed gene therapy. (Hum Gene Ther. 2006 Feb;17(2):193-205.)
Thirion C, Lochmüller H, Ruzsics Z, Boelhauve M, König C, Thedieck C, Kutik S, Geiger C, Kochanek S, Volpers C, Burgert HG.
-
Gentamicin treatment in McArdle disease: failure to correct myophosphorylase deficiency. (Neurology. 2006 Jan 24;66(2):285-6.)
Schroers A, Kley RA, Stachon A, Horvath R, Lochmüller H, Zange J, Vorgerd M.
-
Identification of a 94-bp GC-rich element in the smooth muscle myosin heavy-chain promoter controlling vascular smooth muscle cell-specific gene expression. (Cell Biochem Biophys. 2006;45(3):279-88.)
Deindl E, Middeler G, Müller OJ, Selbert S, Schlenke P, Marienfeld U, Thirion C, Katus HA, Franz WM.
