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Matthias Vorgerd
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20
Malin, Jean-Pierre
14
Zange, Jochen
11
Kley, Rudolf
11
Schröder, Rolf
10
Lochmüller, Hanns
10
Mortier, Wilhelm
10
Tegenthoff, Martin
8
Ristow, Michael
7
Schöls, Ludger
7
Huebner, Angela
7
Müller, Klaus
7
Fischer, Dirk
6
Epplen, Jörg
6
Walter, Maggie
5
Sindern, Eckhart
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All Publications
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2008: Nolte Kay W; Janecke Andreas R; Vorgerd Matthias; Weis Joachim; Schröder J Michael
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 neuropathologica 2008;116(5):491-506.
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2008: Vorgerd Matthias
Therapeutic options in other metabolic myopathies.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2008;5(4):579-82.
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2008: Strach Katharina; Sommer Torsten; Grohé Christian; Meyer Carsten; Fischer Dirk; Walter Maggie C; Vorgerd Matthias; Reilich Peter; Bär Harald; Reimann Jens; Reuner Ulrike; Germing Alfried; Goebel Hans Hilmar; Lochmüller Hanns; Wintersperger Bernd; Schröder Rolf
Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies.
Neuromuscular disorders : NMD 2008;18(6):475-82.
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2008: Kley R A; Tarnopolsky M A; Vorgerd M
Creatine treatment in muscle disorders: a meta-analysis of randomised controlled trials.
Journal of neurology, neurosurgery, and psychiatry 2008;79(4):366-7.
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2008: Peters S A; Köhler C; Schara U; Hohendahl J; Vorgerd M; Nicolas V; Heyer C M
[Muscular magnetic resonance imaging for evaluation of myopathies in children]
Klinische Pädiatrie 2008;220(1):37-46.
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2007: Kley Rudolf A; Hellenbroich Yorck; van der Ven Peter F M; Fürst Dieter O; Huebner Angela; Bruchertseifer Vera; Peters Sören A; Heyer Christoph M; Kirschner Janbernd; Schröder Rolf; Fischer Dirk; Müller Klaus; Tolksdorf Karen; Eger Katharina; Germing Alfried; Brodherr Turgut; Reum Conny; Walter Maggie C; Lochmüller Hanns; Ketelsen Uwe-Peter; Vorgerd Matthias
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.
Brain : a journal of neurology 2007;130(Pt 12):3250-64.
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2007: Zhang Qiuping; Bethmann Cornelia; Worth Nathalie F; Davies John D; Wasner Christina; Feuer Anja; Ragnauth Cassandra D; Yi Qijian; Mellad Jason A; Warren Derek T; Wheeler Matthew A; Ellis Juliet A; Skepper Jeremy N; Vorgerd Matthias; Schlotter-Weigel Beate; Weissberg Peter L; Roberts Roland G; Wehnert Manfred; Shanahan Catherine M
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.
Human molecular genetics 2007;16(23):2816-33.
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2007: 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 myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2007;26(1):61-3.
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2007: Walter M C; Reilich P; Huebner A; Fischer D; Schröder R; Vorgerd M; Kress W; Born C; Schoser B G; Krause K H; Klutzny U; Bulst S; Frey J R; Lochmüller H
Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.
Brain : a journal of neurology 2007;130(Pt 6):1485-96.
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2007: Löwe Thomas; Kley Rudolf A; van der Ven Peter F M; Himmel Mirko; Huebner Angela; Vorgerd Matthias; Fürst Dieter O
The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy.
Human molecular genetics 2007;16(11):1351-8.
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2007: Deschauer M; Morgenroth A; Joshi P R; Gläser D; Chinnery P F; 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.
Journal of neurology 2007;254(6):797-802.
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2007: Diers Alexander; Carl Miriam; Stoltenburg-Didinger Gisela; Vorgerd Matthias; Spuler Simone
Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF.
Neuromuscular disorders : NMD 2007;17(2):157-62.
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2007: Horvath Rita; Kley Rudolf Andre; Lochmüller Hanns; Vorgerd Matthias
Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys.
Neurology 2007;68(1):56-8.
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2007: Kley R A; Vorgerd M; Tarnopolsky M A
Creatine for treating muscle disorders.
Cochrane database of systematic reviews (Online) 2007;(1):CD004760.
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2006: Hoffjan Sabine; Thiels Charlotte; Vorgerd Matthias; Neuen-Jacob Eva; Epplen Jörg T; Kress Wolfram
Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1.
Neuromuscular disorders : NMD 2006;16(11):749-53.
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2006: Meyer C; Carlqvist H; Vorgerd M; Schöls L; Ostenson C-G; Ristow M
Regular insulin secretory oscillations despite impaired ATP synthesis in Friedreich Ataxia patients.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et métabolisme 2006;38(10):683-7.
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2006: Rommel Oliver; Kley Rudolf A; Dekomien Gabriele; Epplen Jörg T; Vorgerd Matthias; Hasenbring Monika
Muscle pain in myophosphorylase deficiency (McArdle's disease): the role of gender, genotype, and pain-related coping.
Pain 2006;124(3):295-304.
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2006: Schroers A; Kley R A; Stachon A; Horvath R; Lochmüller H; Zange J; Vorgerd M
Gentamicin treatment in McArdle disease: failure to correct myophosphorylase deficiency.
Neurology 2006;66(2):285-6.
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2006: von der Hagen M; Schallner J; Kaindl A M; Koehler K; Mitzscherling P; Abicht A; Grieben U; Korinthenberg R; Kress W; von Moers A; Müller J S; Schara U; Vorgerd M; Walter M C; Müller-Reible 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.
Neuromuscular disorders : NMD 2006;16(1):4-13.
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2006: Endo Yoriko; Horinishi Asako; Vorgerd Matthias; Aoyama Yoshiko; Ebara Tetsu; Murase Toshio; Odawara Masato; Podskarbi Teodor; Shin Yoon S; Okubo Minoru
Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.
Journal of human genetics 2006;51(11):958-63.
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2006: Engelfried Kathrin; Vorgerd Matthias; Hagedorn Michaela; Haas Gerhard; Gilles Jürgen; Epplen Jörg T; Meins Moritz
Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).
BMC medical genetics 2006;7():53.
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2005: Busch Verena; Gempel Klaus; Hack Alexandra; Müller Klaus; Vorgerd Matthias; Lochmüller Hanns; Baumeister Friedrich A M
Treatment of glycogenosis type V with ketogenic diet.
Annals of neurology 2005;58(2):341.
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2005: Vorgerd Matthias; van der Ven Peter F M; Bruchertseifer Vera; Löwe Thomas; Kley Rudolf A; Schröder Rolf; Lochmüller Hanns; Himmel Mirko; Koehler Katrin; Fürst Dieter O; Huebner Angela
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.
American journal of human genetics 2005;77(2):297-304.
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2005: Clemen Christoph S; Fischer Dirk; Roth Udo; Simon Stéphanie; Vicart Patrick; Kato Kanefusa; Kaminska Anna M; Vorgerd Matthias; Goldfarb Lev G; Eymard Bruno; Romero Norma B; Goudeau Bertrand; Eggermann Thomas; Zerres Klaus; Noegel Angelika A; Schröder Rolf
Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies.
FEBS letters 2005;579(17):3777-82.
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2005: Saft Carsten; Zange Jochen; Andrich Jürgen; Müller Klaus; Lindenberg Katrin; Landwehrmeyer Bernhard; Vorgerd Matthias; Kraus Peter H; Przuntek Horst; Schöls Ludger
Mitochondrial impairment in patients and asymptomatic mutation carriers of Huntington's disease.
Movement disorders : official journal of the Movement Disorder Society 2005;20(6):674-9.
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2005: Schöls L; Zange J; Abele M; Schillings M; Skipka G; Kuntz-Hehner S; van Beekvelt M C P; Colier W N J M; Müller K; Klockgether T; Przuntek H; Vorgerd M
L-carnitine and creatine in Friedreich's ataxia. A randomized, placebo-controlled crossover trial.
Journal of neural transmission (Vienna, Austria : 1996) 2005;112(6):789-96.
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2005: Bär Harald; Fischer Dirk; Goudeau Bertrand; Kley Rudolf A; Clemen Christoph S; Vicart Patrick; Herrmann Harald; Vorgerd Matthias; Schröder Rolf
Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro.
Human molecular genetics 2005;14(10):1251-60.
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2005: 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.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2005;12(4):300-9.
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2005: Jenne Dieter E; Kley Rudi A; Vorgerd Matthias; Schröder J Michael; Weis Joachim; Reimann Heike; Albrecht Beate; Nürnberg Peter; Thiele Holger; Müller Clemens R; Meng Gerhard; Witt Christian C; Labeit Siegfried
Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.
Biological chemistry 2005;386(1):61-7.
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2005: Schulte-Mattler W J; Kley R A; Rothenfusser-Korber E; Böhm S; Brüning T; Hackemann J; Steinbrecher A; Düring M V; Voss B; Vorgerd M
Immune-mediated rippling muscle disease.
Neurology 2005;64(2):364-7.
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2004: Walter M C; Petersen J A; Stucka R; Fischer D; Schröder R; Vorgerd M; Schroers A; Schreiber H; Hanemann C O; Knirsch U; Rosenbohm A; Huebner A; Barisic N; Horvath R; Komoly S; Reilich P; Müller-Felber W; Pongratz D; Müller J S; Auerswald E A; Lochmüller H
FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients.
Journal of medical genetics 2004;41(4):e50.
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2004: Züchner Stephan; Vorgerd Matthias; Sindern Eckhart; Schröder J Michael
The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.
Neuromuscular disorders : NMD 2004;14(2):147-57.
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2004: Arning Larissa; Jagiello Peter; Schara Ulrike; Vorgerd Matthias; Dahmen Norbert; Gencikova Alexandra; Mortier Wilhelm; Epplen Jörg T; Gencik Martin
Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR.
Journal of neurology 2004;251(1):72-8.
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2003: Walter Maggie C; Braun Christian; Vorgerd Matthias; Poppe Maja; Thirion Christian; Schmidt Carolin; Schreiber Herbert; Knirsch Ursula I; Brummer Dagmar; Müller-Felber Wolfgang; Pongratz Dieter; Müller-Höcker Josef; Huebner Angela; Lochmüller Hanns
Variable reduction of caveolin-3 in patients with LGMD2B/MM.
Journal of neurology 2003;250(12):1431-8.
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2003: Sindern E; Ziemssen F; Ziemssen T; Podskarbi T; Shin Y; Brasch F; Müller K M; Schröder J M; Malin J-P; Vorgerd M
Adult polyglucosan body disease: a postmortem correlation study.
Neurology 2003;61(2):263-5.
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2003: Burwinkel Barbara; Hu Bin; Schroers Anja; Clemens Paula R; Moses Shimon W; Shin Yoon S; Pongratz Dieter; Vorgerd Matthias; Kilimann Manfred W
Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.
European journal of human genetics : EJHG 2003;11(7):516-26.
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2003: Zange Jochen; Grehl Torsten; Disselhorst-Klug Catherine; Rau Günter; Müller Klaus; Schröder Rolf; Tegenthoff Martin; Malin Jean-Pierre; Vorgerd Matthias
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):728-36.
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2003: Kubisch Christian; Schoser Benedikt G H; von Düring Monika; Betz Regina C; Goebel Hans-Hilmar; Zahn Susanne; Ehrbrecht Antje; Aasly Jan; Schroers Anja; Popovic Nikola; Lochmüller Hanns; Schröder J Michael; Brüning Thomas; Malin Jean-Pierre; Fricke Britta; Meinck Hans-Michael; Torbergsen Torberg; Engels Hartmut; Voss Bruno; Vorgerd Matthias
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.
Annals of neurology 2003;53(4):512-20.
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2003: Fischer Dirk; Schroers Anja; Blümcke Ingmar; Urbach Horst; Zerres Klaus; Mortier Wilhelm; Vorgerd Matthias; Schröder Rolf
Consequences of a novel caveolin-3 mutation in a large German family.
Annals of neurology 2003;53(2):233-41.
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2002: Vorgerd Matthias; Zange Jochen
Carbohydrate oxidation disorders of skeletal muscle.
Current opinion in clinical nutrition and metabolic care 2002;5(6):611-7.
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2002: Schara Ulrike; Vorgerd Matthias; Popovic Nikola; Schoser Benedikt G H; Ricker Kenneth; Mortier Wilhelm
Rippling muscle disease in childhood.
Journal of child neurology 2002;17(7):483-90.
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2002: 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.
Annals of neurology 2002;52(1):126; author reply 126-7.
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2002: Postler E; Sindern E; Vorgerd M; Schmitz I; Malin J P; Müller K M
[Fatal cardiomyopathy in adult in polyglucosan body disease]
Der Pathologe 2002;23(3):229-34.
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2002: Vorgerd Matthias; Zange Jochen; Kley Rudolf; Grehl T; Hüsing Anika; Jäger Matthias; Müller Klaus; Schröder Rolf; Mortier Wilhelm; Fabian Klaus; Malin Jean-Pierre; Luttmann Alwin
Effect of high-dose creatine therapy on symptoms of exercise intolerance in McArdle disease: double-blind, placebo-controlled crossover study.
Archives of neurology 2002;59(1):97-101.
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2001: Vorgerd M; Ricker K; Ziemssen F; Kress W; Goebel H H; Nix W A; Kubisch C; Schoser B G; Mortier W
A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation.
Neurology 2001;57(12):2273-7.
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2001: Betz R C; Schoser B G; Kasper D; Ricker K; Ramírez A; Stein V; Torbergsen T; Lee Y A; Nöthen M M; Wienker T F; Malin J P; Propping P; Reis A; Mortier W; Jentsch T J; Vorgerd M; Kubisch C
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
Nature genetics 2001;28(3):218-9.
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2001: Schöls L; Vorgerd M; Schillings M; Skipka G; Zange J
Idebenone in patients with Friedreich ataxia.
Neuroscience letters 2001;306(3):169-72.
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2001: Vorgerd M; Gencik M; Mortier J; Epplen J T; Malin J P; Mortier W
Isolated loss of gamma-sarcoglycan: diagnostic implications in autosomal recessive limb-girdle muscular dystrophies.
Muscle & nerve 2001;24(3):421-4.
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2000: Schulz J B; Dehmer T; Schöls L; Mende H; Hardt C; Vorgerd M; Bürk K; Matson W; Dichgans J; Beal M F; Bogdanov M B
Oxidative stress in patients with Friedreich ataxia.
Neurology 2000;55(11):1719-21.
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2000: Hebinck J; Hardt C; Schöls L; Vorgerd M; Briedigkeit L; Kahn C R; Ristow M
Heterozygous expansion of the GAA tract of the X25/frataxin gene is associated with insulin resistance in humans.
Diabetes 2000;49(9):1604-7.
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2000: Bonne G; Mercuri E; Muchir A; Urtizberea A; Bécane H M; Recan D; Merlini L; Wehnert M; Boor R; Reuner U; Vorgerd M; Wicklein E M; Eymard B; Duboc D; Penisson-Besnier I; Cuisset J M; 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.
Annals of neurology 2000;48(2):170-80.
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2000: Vorgerd M; Schöls L; Hardt C; Ristow M; Epplen J T; Zange J
Mitochondrial impairment of human muscle in Friedreich ataxia in vivo.
Neuromuscular disorders : NMD 2000;10(6):430-5.
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2000: 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 J P
Creatine therapy in myophosphorylase deficiency (McArdle disease): a placebo-controlled crossover trial.
Archives of neurology 2000;57(7):956-63.
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2000: Ziemssen F; Sindern E; Schröder J M; Shin Y S; Zange J; Kilimann M W; Malin J P; Vorgerd M
Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.
Annals of neurology 2000;47(4):536-40.
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1999: Sindern E; Patzold T; Vorgerd M; Shin Y S; Podskarbi T; Schröder J M; Malin J P
[Adult polyglucosan antibody disease. Case report with predominant involvement of the central and peripheral nervous system and branching enzyme defect in leukocytes]
Der Nervenarzt 1999;70(8):745-9.
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1999: Ristow M; Carlqvist H; Hebinck J; Vorgerd M; Krone W; Pfeiffer A; Müller-Wieland D; Ostenson C G
Deficiency of phosphofructo-1-kinase/muscle subtype in humans is associated with impairment of insulin secretory oscillations.
Diabetes 1999;48(8):1557-61.
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1999: Burwinkel B; Kreuder J; Schweitzer S; Vorgerd M; Gempel K; Gerbitz K D; Kilimann M W
Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality.
Biochemical and biophysical research communications 1999;261(2):484-7.
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1999: Vorgerd M; Bolz H; Patzold T; Kubisch C; Malin J P; Mortier W
Phenotypic variability in rippling muscle disease.
Neurology 1999;52(7):1453-9.
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1999: Ristow M; Vorgerd M; Möhlig M; Schatz H; Pfeiffer A
Insulin resistance and impaired insulin secretion due to phosphofructo-1-kinase-deficiency in humans.
Journal of molecular medicine (Berlin, Germany) 1999;77(1):96-103.
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1998: Grehl T; Müller K; Vorgerd M; Tegenthoff M; Malin J P; Zange J
Impaired aerobic glycolysis in muscle phosphofructokinase deficiency results in biphasic post-exercise phosphocreatine recovery in 31P magnetic resonance spectroscopy.
Neuromuscular disorders : NMD 1998;8(7):480-8.
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1998: Ristow M; Giannakidou E; Hebinck J; Busch K; Vorgerd M; Kotzka J; Knebel B; Mueller-Berghaus J; Epplen C; Pfeiffer A; Kahn C R; 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):851-4.
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1998: Vorgerd M; Burwinkel B; Reichmann H; Malin J P; Kilimann M W
Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.
Neurogenetics 1998;1(3):205-11.
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1998: Vorgerd M; Kubisch C; Burwinkel B; Reichmann H; Mortier W; Tettenborn B; Pongratz D; Lindemuth R; Tegenthoff M; Malin J P; Kilimann M W
Mutation analysis in myophosphorylase deficiency (McArdle's disease).
Annals of neurology 1998;43(3):326-31.
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1998: Vorgerd M; Benkmann H G; Tegenthoff M; Gal A; Malin J P
[Adrenoleukodystrophy and adrenomyeloneuropathy. Clinical biochemical and molecular genetic findings]
Der Nervenarzt 1998;69(2):174-9.
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1997: 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.
The Journal of clinical investigation 1997;100(11):2833-41.
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1996: Vorgerd M; Karitzky J; Ristow M; Van Schaftingen E; Tegenthoff M; Jerusalem F; Malin J P
Muscle phosphofructokinase deficiency in two generations.
Journal of the neurological sciences 1996;141(1-2):95-9.
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1996: Tegenthoff M; Vorgerd M; Juskowiak F; Roos V; Malin J P
Postexcitatory inhibition after transcranial magnetic single and double brain stimulation in Huntington's disease.
Electroencephalography and clinical neurophysiology 1996;101(4):298-303.
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1996: Wessel K; Tegenthoff M; Vorgerd M; Otto V; Nitschke M F; Malin J P
Enhancement of inhibitory mechanisms in the motor cortex of patients with cerebellar degeneration: a study with transcranial magnetic brain stimulation.
Electroencephalography and clinical neurophysiology 1996;101(4):273-80.
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1996: Vorgerd M; Tegenthoff M; Kühne D; Malin J P
Spinal MRI in progressive myeloneuropathy associated with vitamin E deficiency.
Neuroradiology 1996;38 Suppl 1():S111-3.
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1995: Vorgerd M; Fuchs S; Tegenthoff M; Malin J P
A missense point mutation (Ser515Phe) in the adrenoleukodystrophy gene in a family with adrenomyeloneuropathy: a clinical, biochemical, and genetic study.
Journal of neurology, neurosurgery, and psychiatry 1995;58(2):229-31.
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