Publikationen Muskelzentrum Ruhrgebiet (Neurologische Univ
Transcription
Publikationen Muskelzentrum Ruhrgebiet (Neurologische Univ
Publikationen Muskelzentrum Ruhrgebiet (Neurologische Univ.-Klinik Bergmannsheil) Kley, RA, Tarnopolsky, MA, Vorgerd, M. Creatine for treating muscle disorders. Cochrane Database Syst Rev. 2011(2):CD004760. Schwenkreis, P, Voigt, M, Hasenbring, M, Tegenthoff, M, Vorgerd, M, Kley, RA. Central mechanisms during fatiguing muscle exercise in muscular dystrophy and fibromyalgia syndrome: a study with transcranial magnetic stimulation. Muscle Nerve. 2011. 43(4):479–484. Schmidt, J, Vorgerd, M. Therapiestandard bei Myositiden und Muskeldystrophien. Nervenarzt. 2011. 82(6):723–732. Maetzler, W, Reimold, M, Schittenhelm, J, Vorgerd, M, Bornemann, A, Kötter, I, Pfannenberg, C, Reischl, G, Schöls, L. Increased [11C]PIB-PET levels in inclusion body myositis are indicative of amyloid beta deposition. J. Neurol. Neurosurg. Psychiatr. 2011. 82(9):1060–1062. Jacobi, C, Ruscheweyh, R, Vorgerd, M, Weber, M, Storch-Hagenlocher, B, Meinck, HM. Rippling muscle disease: variable phenotype in a family with five afflicted members. Muscle Nerve. 2010. 41(1):128–132. Linnemann, A, van der Ven, PFM, Vakeel, P, Albinus, B, Simonis, D, Bendas, G, Schenk, JA, Micheel, B, Kley, RA, Fürst, DO. The sarcomeric Z-disc component myopodin is a multiadapter protein that interacts with filamin and alpha-actinin. Eur. J. Cell Biol. 2010. 89(9):681–692. Schroers, R, Baraniskin, A, Heute, C, Vorgerd, M, Brunn, A, Kuhnhenn, J, Kowoll, A, Alekseyev, A, Schmiegel, W, Schlegel, U, Deckert, M, Pels, H. Diagnosis of leptomeningeal disease in diffuse large B-cell lymphomas of the central nervous system by flow cytometry and cytopathology. Eur. J. Haematol. 2010. 85(6):520–528. Klauke, B, Kossmann, S, Gaertner, A, Brand, K, Stork, I, Brodehl, A, Dieding, M, Walhorn, V, Anselmetti, D, Gerdes, D, Bohms, B, Schulz, U, Knyphausen, E zu, Vorgerd, M, Gummert, J, Milting, H. De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. Hum. Mol. Genet. 2010. 19(23):4595–4607. Guettsches, A, Kuechler, A, Gal, A, Schmitz, W, Tegenthoff, M, Vorgerd, M. Female carriers of Xchromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy. J. Neurol. 2010. 257(8):1394–1395. Peters, SA, Kley, R, Tegenthoff, M, Vorgerd, M, Nicolas, V, Heyer, CM. MRI in lipid-lowering agentassociated myopathy: a retrospective review of 21 cases. AJR Am J Roentgenol. 2010. 194(4):W323-8. Wattjes, MP, Kley, RA, Fischer, D. Neuromuscular imaging in inherited muscle diseases. Eur Radiol. 2010. 20(10):2447–2460. Joshi, PR, Gläser, D, Schmidt, S, Vorgerd, M, Winterholler, M, Eger, K, Zierz, S, Deschauer, M. Molecular diagnosis of German patients with late-onset glycogen storage disease type II. J. Inherit. Metab. Dis. 2008. 31 Suppl 2:S261-5. Strach, K, Sommer, T, Grohé, C, Meyer, C, Fischer, D, Walter, MC, Vorgerd, M, Reilich, P, Bär, H, Reimann, J, Reuner, U, Germing, A, Goebel, HH, Lochmüller, H, Wintersperger, B, Schröder, R. Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies. Neuromuscul. Disord. 2008. 18(6):475–482. Kley, RA, Tarnopolsky, MA, Vorgerd, M. Creatine treatment in muscle disorders: a meta-analysis of randomised controlled trials. J. Neurol. Neurosurg. Psychiatr. 2008. 79(4):366–367. Fischer, D, Kley, RA, Strach, K, Meyer, C, Sommer, T, Eger, K, Rolfs, A, Meyer, W, Pou, A, Pradas, J, Heyer, CM, Grossmann, A, Huebner, A, Kress, W, Reimann, J, Schröder, R, Eymard, B, Fardeau, M, Udd, B, Goldfarb, L, Vorgerd, M, Olivé, M. Distinct muscle imaging patterns in myofibrillar myopathies. Neurology. 2008. 71(10):758–765. Nolte, KW, Janecke, AR, Vorgerd, M, Weis, J, Schröder, JM. Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene. Acta Neuropathol. 2008. 116(5):491–506. Peters, SA, Köhler, C, Schara, U, Hohendahl, J, Vorgerd, M, Nicolas, V, Heyer, CM. Myopathien im Kindesalter - Evaluation mittels Kernspintomografie der Muskulatur. Klin Padiatr. 2008. 220(1):37–46. Vorgerd, M. Therapeutic options in other metabolic myopathies. Neurotherapeutics. 2008. 5(4):579– 582. Roggenland, D, Heyer, CM, Vorgerd, M, Nicolas, V. Das Nervus-interosseus-anterior-Syndrom (KilohNevin-Syndrom)--Diagnostik mittels MRT. Rofo. 2008. 180(6):561–562. Kohlhaas, K, Brechmann, T, Vorgerd, M. Hepatitis-B-assoziierte Panarteriitis nodosa mit zerebraler Vaskulitis. Dtsch. Med. Wochenschr. 2007. 13234-35:1748–1752. Löwe, T, Kley, RA, van der Ven, PFM, Himmel, M, Huebner, A, Vorgerd, M, Fürst, DO. The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy. Hum. Mol. Genet. 2007. 16(11):1351–1358. Kley, RA, Vorgerd, M, Tarnopolsky, MA. Creatine for treating muscle disorders. Cochrane Database Syst Rev. 2007(1):CD004760. Kley, RA, Hellenbroich, Y, van der Ven, PFM, 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, U, Vorgerd, M. Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. Brain. 2007. 130Pt 12:3250–3264. 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. 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. 16(23):2816–2833. 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. Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. Brain. 2007. 130Pt 6:1485–1496. Diers, A, Carl, M, Stoltenburg-Didinger, G, Vorgerd, M, Spuler, S. Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF. Neuromuscul. Disord. 2007. 17(2):157–162. Vorgerd, M, Zange, J. Treatment of glycogenosys type V (McArdle disease) with creatine and ketogenic diet with clinical scores and with 31P-MRS on working leg muscle. Acta Myol. 2007. 26(1):61–63. Deschauer, M, Morgenroth, A, Joshi, PR, Gläser, D, Chinnery, PF, Aasly, J, Schreiber, H, Knape, M, Zierz, S, Vorgerd, M. Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations. J. Neurol. 2007. 254(6):797–802. Horvath, R, Kley, RA, Lochmüller, H, Vorgerd, M. Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys. Neurology. 2007. 68(1):56–58. Schroers, A, Kley, RA, Stachon, A, Horvath, R, Lochmüller, H, Zange, J, Vorgerd, M. Gentamicin treatment in McArdle disease: failure to correct myophosphorylase deficiency. Neurology. 2006. 66(2):285–286. Hoffjan, S, Thiels, C, Vorgerd, M, Neuen-Jacob, E, Epplen, JT, Kress, W. Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1. Neuromuscul. Disord. 2006. 16(11):749–753. Peters, S, Vorgerd, M, Heyer, CM. Chronisch progressive externe Ophthalmoplegie plus: Diagnostik durch Muskelkernspintomographie. Rofo. 2006. 178(10):1030–1032. Meyer, C, Carlqvist, H, Vorgerd, M, Schöls, L, Ostenson, C, Ristow, M. Regular insulin secretory oscillations despite impaired ATP synthesis in Friedreich Ataxia patients. Horm. Metab. Res. 2006. 38(10):683–687. Hagen, M von der, Schallner, J, Kaindl, AM, Koehler, K, Mitzscherling, P, Abicht, A, Grieben, U, Korinthenberg, R, Kress, W, Moers, A von, Müller, JS, Schara, U, Vorgerd, M, Walter, MC, MüllerReible, C, Hübner, C, Lochmüller, H, Huebner, A. Facing the genetic heterogeneity in neuromuscular disorders: linkage analysis as an economic diagnostic approach towards the molecular diagnosis. Neuromuscul. Disord. 2006. 16(1):4–13. Endo, Y, Horinishi, A, Vorgerd, M, Aoyama, Y, Ebara, T, Murase, T, Odawara, M, Podskarbi, T, Shin, YS, Okubo, M. Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey. J. Hum. Genet. 2006. 51(11):958–963. Engelfried, K, Vorgerd, M, Hagedorn, M, Haas, G, Gilles, J, Epplen, JT, Meins, M. Charcot-MarieTooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2). BMC Med. Genet. 2006. 7:53. Rommel, O, Kley, RA, Dekomien, G, Epplen, JT, Vorgerd, M, Hasenbring, M. Muscle pain in myophosphorylase deficiency (McArdle's disease): the role of gender, genotype, and pain-related coping. Pain. 2006. 124(3):295–304. Saft, C, Zange, J, Andrich, J, Müller, K, Lindenberg, K, Landwehrmeyer, B, Vorgerd, M, Kraus, PH, Przuntek, H, Schöls, L. Mitochondrial impairment in patients and asymptomatic mutation carriers of Huntington's disease. Mov. Disord. 2005. 20(6):674–679. Jenne, DE, Kley, RA, Vorgerd, M, Schröder, JM, Weis, J, Reimann, H, Albrecht, B, Nürnberg, P, Thiele, H, Müller, CR, Meng, G, Witt, CC, Labeit, S. Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3. Biol. Chem. 2005. 386(1):61–67. Bär, H, Fischer, D, Goudeau, B, Kley, RA, Clemen, CS, Vicart, P, Herrmann, H, Vorgerd, M, Schröder, R. Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro. Hum. Mol. Genet. 2005. 14(10):1251–1260. Schöls, L, Zange, J, Abele, M, Schillings, M, Skipka, G, Kuntz-Hehner, S, van Beekvelt, MCP, Colier, WNJM, Müller, K, Klockgether, T, Przuntek, H, Vorgerd, M. L-carnitine and creatine in Friedreich's ataxia. A randomized, placebo-controlled crossover trial. J Neural Transm. 2005. 112(6):789–796. Clemen, CS, Fischer, D, Roth, U, Simon, S, Vicart, P, Kato, K, Kaminska, AM, Vorgerd, M, Goldfarb, LG, Eymard, B, Romero, NB, Goudeau, B, Eggermann, T, Zerres, K, Noegel, AA, Schröder, R. Hsp272D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies. FEBS Lett. 2005. 579(17):3777–3782. Kornblum, C, Schröder, R, Müller, K, Vorgerd, M, Eggers, J, Bogdanow, M, Papassotiropoulos, A, Fabian, K, Klockgether, T, Zange, J. Creatine has no beneficial effect on skeletal muscle energy metabolism in patients with single mitochondrial DNA deletions: a placebo-controlled, double-blind 31P-MRS crossover study. Eur. J. Neurol. 2005. 12(4):300–309. Schulte-Mattler, WJ, Kley, RA, Rothenfusser-Korber, E, Böhm, S, Brüning, T, Hackemann, J, Steinbrecher, A, Düring, MV, Voss, B, Vorgerd, M. Immune-mediated rippling muscle disease. Neurology. 2005. 64(2):364–367. Busch, V, Gempel, K, Hack, A, Müller, K, Vorgerd, M, Lochmüller, H, Baumeister, FAM. Treatment of glycogenosis type V with ketogenic diet. Ann. Neurol. 2005. 58(2):341. Vorgerd, M, van der Ven, PFM, Bruchertseifer, V, Löwe, T, Kley, RA, Schröder, R, Lochmüller, H, Himmel, M, Koehler, K, Fürst, DO, Huebner, A. A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am. J. Hum. Genet. 2005. 77(2):297–304. Walter, MC, Petersen, JA, Stucka, R, Fischer, D, Schröder, R, Vorgerd, M, Schroers, A, Schreiber, H, Hanemann, CO, Knirsch, U, Rosenbohm, A, Huebner, A, Barisic, N, Horvath, R, Komoly, S, Reilich, P, Müller-Felber, W, Pongratz, D, Müller, JS, Auerswald, EA, Lochmüller, H. FKRP (826CA) frequently causes limb-girdle muscular dystrophy in German patients. J. Med. Genet. 2004. 41(4):e50. Arning, L, Jagiello, P, Schara, U, Vorgerd, M, Dahmen, N, Gencikova, A, Mortier, W, Epplen, JT, Gencik, M. Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR. J. Neurol. 2004. 251(1):72–78. Züchner, S, Vorgerd, M, Sindern, E, Schröder, JM. The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-MarieTooth neuropathy. Neuromuscul. Disord. 2004. 14(2):147–157. Zange, J, Grehl, T, Disselhorst-Klug, C, Rau, G, Müller, K, Schröder, R, Tegenthoff, M, Malin, J, Vorgerd, M. Breakdown of adenine nucleotide pool in fatiguing skeletal muscle in McArdle's disease: a noninvasive 31P-MRS and EMG study. Muscle Nerve. 2003. 27(6):728–736. Kubisch, C, Schoser, BGH, Düring, M von, Betz, RC, Goebel, H, Zahn, S, Ehrbrecht, A, Aasly, J, Schroers, A, Popovic, N, Lochmüller, H, Schröder, JM, Brüning, T, Malin, J, Fricke, B, Meinck, H, Torbergsen, T, Engels, H, Voss, B, Vorgerd, M. Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. Ann. Neurol. 2003. 53(4):512–520. Walter, MC, Braun, C, Vorgerd, M, Poppe, M, Thirion, C, Schmidt, C, Schreiber, H, Knirsch, UI, Brummer, D, Müller-Felber, W, Pongratz, D, Müller-Höcker, J, Huebner, A, Lochmüller, H. Variable reduction of caveolin-3 in patients with LGMD2B/MM. J. Neurol. 2003. 250(12):1431–1438. Fischer, D, Schroers, A, Blümcke, I, Urbach, H, Zerres, K, Mortier, W, Vorgerd, M, Schröder, R. Consequences of a novel caveolin-3 mutation in a large German family. Ann. Neurol. 2003. 53(2):233–241. Burwinkel, B, Hu, B, Schroers, A, Clemens, PR, Moses, SW, Shin, YS, Pongratz, D, Vorgerd, M, Kilimann, MW. Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases. Eur. J. Hum. Genet. 2003. 11(7):516–526. Sindern, E, Ziemssen, F, Ziemssen, T, Podskarbi, T, Shin, Y, Brasch, F, Müller, KM, Schröder, JM, Malin, J, Vorgerd, M. Adult polyglucosan body disease: a postmortem correlation study. Neurology. 2003. 61(2):263–265. Schara, U, Vorgerd, M, Popovic, N, Schoser, BGH, Ricker, K, Mortier, W. Rippling muscle disease in childhood. J. Child Neurol. 2002. 17(7):483–490. Vorgerd, M, Zange, J. Carbohydrate oxidation disorders of skeletal muscle. Curr Opin Clin Nutr Metab Care. 2002. 5(6):611–617. Vorgerd, M, Zange, J, Kley, R, Grehl, T, Hüsing, A, Jäger, M, Müller, K, Schröder, R, Mortier, W, Fabian, K, Malin, J, Luttmann, A. Effect of high-dose creatine therapy on symptoms of exercise intolerance in McArdle disease: double-blind, placebo-controlled crossover study. Arch. Neurol. 2002. 59(1):97–101. Zange, J, Kornblum, C, Müller, K, Kurtscheid, S, Heck, H, Schröder, R, Grehl, T, Vorgerd, M. Creatine supplementation results in elevated phosphocreatine/adenosine triphosphate (ATP) ratios in the calf muscle of athletes but not in patients with myopathies. Ann. Neurol. 2002. 52(1):126; author reply 126-7. Postler, E, Sindern, E, Vorgerd, M, Schmitz, I, Malin, JP, Müller, KM. Letale Kardiomyopathie bei adulter Polyglukosankörperkrankheit. Pathologe. 2002. 23(3):229–234. Vorgerd, M, Gencik, M, Mortier, J, Epplen, JT, Malin, JP, Mortier, W. Isolated loss of gammasarcoglycan: diagnostic implications in autosomal recessive limb-girdle muscular dystrophies. Muscle Nerve. 2001. 24(3):421–424. Schöls, L, Vorgerd, M, Schillings, M, Skipka, G, Zange, J. Idebenone in patients with Friedreich ataxia. Neurosci. Lett. 2001. 306(3):169–172. Betz, RC, Schoser, BG, Kasper, D, Ricker, K, Ramírez, A, Stein, V, Torbergsen, T, Lee, YA, Nöthen, MM, Wienker, TF, Malin, JP, Propping, P, Reis, A, Mortier, W, Jentsch, TJ, Vorgerd, M, Kubisch, C. Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Nat. Genet. 2001. 28(3):218–219. Vorgerd, M, Ricker, K, Ziemssen, F, Kress, W, Goebel, HH, Nix, WA, Kubisch, C, Schoser, BG, Mortier, W. A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. Neurology. 2001. 57(12):2273–2277. Bonne, G, Mercuri, E, Muchir, A, Urtizberea, A, Bécane, HM, Recan, D, Merlini, L, Wehnert, M, Boor, R, Reuner, U, Vorgerd, M, Wicklein, EM, Eymard, B, Duboc, D, Penisson-Besnier, I, Cuisset, JM, Ferrer, X, Desguerre, I, Lacombe, D, Bushby, K, Pollitt, C, Toniolo, D, Fardeau, M, Schwartz, K, Muntoni, F. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann. Neurol. 2000. 48(2):170–180. Vorgerd, M, Grehl, T, Jager, M, Muller, K, Freitag, G, Patzold, T, Bruns, N, Fabian, K, Tegenthoff, M, Mortier, W, Luttmann, A, Zange, J, Malin, JP. Creatine therapy in myophosphorylase deficiency (McArdle disease): a placebo-controlled crossover trial. Arch. Neurol. 2000. 57(7):956–963. Schulz, JB, Dehmer, T, Schöls, L, Mende, H, Hardt, C, Vorgerd, M, Bürk, K, Matson, W, Dichgans, J, Beal, MF, Bogdanov, MB. Oxidative stress in patients with Friedreich ataxia. Neurology. 2000. 55(11):1719–1721. Hebinck, J, Hardt, C, Schöls, L, Vorgerd, M, Briedigkeit, L, Kahn, CR, Ristow, M. Heterozygous expansion of the GAA tract of the X25/frataxin gene is associated with insulin resistance in humans. Diabetes. 2000. 49(9):1604–1607. Ziemssen, F, Sindern, E, Schröder, JM, Shin, YS, Zange, J, Kilimann, MW, Malin, JP, Vorgerd, M. Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. Ann. Neurol. 2000. 47(4):536–540. Bührer, C, van Landeghem, F, Brück, W, Felderhoff-Müser, U, Vorgerd, M, Obladen, M. Fetal-onset severe skeletal muscle glycogenosis associated with phosphorylase-b kinase deficiency. Neuropediatrics. 2000. 31(2):104–106. Vorgerd, M, Schöls, L, Hardt, C, Ristow, M, Epplen, JT, Zange, J. Mitochondrial impairment of human muscle in Friedreich ataxia in vivo. Neuromuscul. Disord. 2000. 10(6):430–435. Ristow, M, Vorgerd, M, Möhlig, M, Schatz, H, Pfeiffer, A. Insulin resistance and impaired insulin secretion due to phosphofructo-1-kinase-deficiency in humans. J. Mol. Med. 1999. 77(1):96–103. Sindern, E, Patzold, T, Vorgerd, M, Shin, YS, Podskarbi, T, Schröder, JM, Malin, JP. Adulte Polyglukosankörperkrankheit. Fallbeispiel mit überwiegender Beteiligung des zentralen und peripheren Nervensystems und Branchingenzymdefekt in Leukozyten. Nervenarzt. 1999. 70(8):745– 749. Schwenkreis, P, Vorgerd, M, Malin, JP, Tegenthoff, M. Assessment of postexcitatory inhibition in patients with focal dystonia. Acta Neurol. Scand. 1999. 100(4):260–264. Ristow, M, Carlqvist, H, Hebinck, J, Vorgerd, M, Krone, W, Pfeiffer, A, Müller-Wieland, D, Ostenson, CG. Deficiency of phosphofructo-1-kinase/muscle subtype in humans is associated with impairment of insulin secretory oscillations. Diabetes. 1999. 48(8):1557–1561. Vorgerd, M, Bolz, H, Patzold, T, Kubisch, C, Malin, JP, Mortier, W. Phenotypic variability in rippling muscle disease. Neurology. 1999. 52(7):1453–1459. Burwinkel, B, Kreuder, J, Schweitzer, S, Vorgerd, M, Gempel, K, Gerbitz, KD, Kilimann, MW. Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality. Biochem. Biophys. Res. Commun. 1999. 261(2):484–487. Voigt, E, Griga, T, Tromm, A, Henschel, MG, Vorgerd, M, May, B. Polymyositis of the skeletal muscles as an extraintestinal complication in quiescent ulcerative colitis. Int J Colorectal Dis. 1999. 14(6):304–307. Grehl, T, Müller, K, Vorgerd, M, Tegenthoff, M, Malin, JP, Zange, J. Impaired aerobic glycolysis in muscle phosphofructokinase deficiency results in biphasic post-exercise phosphocreatine recovery in 31P magnetic resonance spectroscopy. Neuromuscul. Disord. 1998. 8(7):480–488. Vorgerd, M, Benkmann, HG, Tegenthoff, M, Gal, A, Malin, JP. Adrenoleukodystrophie und Adrenomyeloneuropathie. Klinische, biochemische und molekulargenetische Befunde. Nervenarzt. 1998. 69(2):174–179. Liepert, J, Wessel, K, Schwenkreis, P, Trillenberg, P, Otto, V, Vorgerd, M, Malin, JP, Tegenthoff, M. Reduced intracortical facilitation in patients with cerebellar degeneration. Acta Neurol. Scand. 1998. 98(5):318–323. Ristow, M, Giannakidou, E, Hebinck, J, Busch, K, Vorgerd, M, Kotzka, J, Knebel, B, Mueller-Berghaus, J, Epplen, C, Pfeiffer, A, Kahn, CR, Doria, A, Krone, W, Mueller-Wieland, D. An association between NIDDM and a GAA trinucleotide repeat polymorphism in the X25/frataxin (Friedreich's ataxia) gene. Diabetes. 1998. 47(5):851–854. Vorgerd, M, Kubisch, C, Burwinkel, B, Reichmann, H, Mortier, W, Tettenborn, B, Pongratz, D, Lindemuth, R, Tegenthoff, M, Malin, JP, Kilimann, MW. Mutation analysis in myophosphorylase deficiency (McArdle's disease). Ann. Neurol. 1998. 43(3):326–331. Vorgerd, M, Burwinkel, B, Reichmann, H, Malin, JP, Kilimann, MW. Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients. Neurogenetics. 1998. 1(3):205–211. Ristow, M, Vorgerd, M, Möhlig, M, Schatz, H, Pfeiffer, A. Deficiency of phosphofructo-1-kinase/muscle subtype in humans impairs insulin secretion and causes insulin resistance. J. Clin. Invest. 1997. 100(11):2833–2841. Schöls, L, Gispert, S, Vorgerd, M, Menezes Vieira-Saecker, AM, Blanke, P, Auburger, G, Amoiridis, G, Meves, S, Epplen, JT, Przuntek, H, Pulst, SM, Riess, O. Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds. Arch. Neurol. 1997. 54(9):1073–1080. Vorgerd, M, Tegenthoff, M, Kühne, D, Malin, JP. Spinal MRI in progressive myeloneuropathy associated with vitamin E deficiency. Neuroradiology. 1996. 38 Suppl 1:S111-3. Tegenthoff, M, Vorgerd, M, Juskowiak, F, Roos, V, Malin, JP. Postexcitatory inhibition after transcranial magnetic single and double brain stimulation in Huntington's disease. Electroencephalogr Clin Neurophysiol. 1996. 101(4):298–303. Vorgerd, M, Karitzky, J, Ristow, M, van Schaftingen, E, Tegenthoff, M, Jerusalem, F, Malin, JP. Muscle phosphofructokinase deficiency in two generations. J. Neurol. Sci. 1996. 1411-2:95–99. Wessel, K, Tegenthoff, M, Vorgerd, M, Otto, V, Nitschke, MF, Malin, JP. Enhancement of inhibitory mechanisms in the motor cortex of patients with cerebellar degeneration: a study with transcranial magnetic brain stimulation. Electroencephalogr Clin Neurophysiol. 1996. 101(4):273–280. Vorgerd, M, Fuchs, S, Tegenthoff, M, Malin, JP. A missense point mutation (Ser515Phe) in the adrenoleukodystrophy gene in a family with adrenomyeloneuropathy: a clinical, biochemical, and genetic study. J. Neurol. Neurosurg. Psychiatr. 1995. 58(2):229–231.