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Auteur Vorgerd M |
Documents disponibles écrits par cet auteur



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Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
Pinos T, Andreu AL, Bruno C, et al.
Orphanet journal of rare diseases, 2020, 15, 1, p 187
Revue : Orphanet journal of rare diseases, 15, 1 Titre : Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry) Type de document : Article Auteurs : Pinos T ; Andreu AL ; Bruno C ; Hadjigeorgiou GM ; Haller RG ; Laforêt P ; Lucia A ; Martin MA ; Martinuzzi A ; Navarro C ; Oflazer P ; Pouget J ; Quinlivan R ; Sacconi S ; Scalco RS ; Toscano A ; Vissing J ; Vorgerd M ; Wakelin A ; Marti R Année de publication : 15/10/2020 Pages : p 187 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33054807 / DOI : 10.1186/s13023-020-01455-z
N° Profil MNM : 2020102 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33054807 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Chaperones in sporadic inclusion body myositis-Validation of proteomic data
Guttsches AK, Jacobsen F, Schreiner A, et al.
Muscle & Nerve, 2019
Revue : Muscle & Nerve Titre : Chaperones in sporadic inclusion body myositis-Validation of proteomic data Type de document : Article Auteurs : Guttsches AK, Auteur ; Jacobsen F ; Schreiner A ; Mertens-Rill J ; Tegenthoff M ; Marcus K ; Vorgerd M ; Kley RA Editeur : United States Année de publication : 10/2019 Langues : Anglais (eng) Mots-clés : étude cas-témoins ; maladie neuromusculaire ; myopathie inflammatoire ; myosite à inclusions ; protéine chaperonne Pubmed / DOI : Pubmed : 31644823 / DOI : 10.1002/mus.26742
N° Profil MNM : 2019102 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31644823 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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The heterozygous R155C VCP mutation: Toxic in humans! Harmless in mice?
Clemen CS, Clemen CS, Winter L, et al.
Biochemical and biophysical research communications, 2018, 503, 4, p 2770
Revue : Biochemical and biophysical research communications, 503, 4 Titre : The heterozygous R155C VCP mutation: Toxic in humans! Harmless in mice? Type de document : Article Auteurs : Clemen CS, Auteur ; Clemen CS ; Winter L ; Strucksberg KH ; Berwanger C ; Türk M ; Kornblum C ; Florin A ; Aguilar-Pimentel JA ; Amarie OV ; Becker L ; Garrett L ; Hans W ; Moreth K ; Neff F ; Pingen L ; Rathkolb B ; Racz I ; Rozman J ; Treise I ; Fuchs H ; Gailus-Durner V ; de Angelis MH ; Vorgerd M ; Eichinger L ; Schröder R Année de publication : 2018 Pages : p 2770 Langues : Anglais (eng) Pubmed / DOI : DOI : 10.1016/j.bbrc.2018.08.038 / Pubmed : 30100055
N° Profil MNM : 2018081 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/30100055 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Treadmill Training with HAL Exoskeleton-A Novel Approach for Symptomatic Therapy in Patients with Limb-Girdle Muscular Dystrophy-Preliminary Study
Sczesny-Kaiser M, Kowalewski R, Schildhauer TA, et al.
Frontiers in neuroscience, 2017, 11
Revue : Frontiers in neuroscience, 11 Titre : Treadmill Training with HAL Exoskeleton-A Novel Approach for Symptomatic Therapy in Patients with Limb-Girdle Muscular Dystrophy-Preliminary Study Type de document : Article Auteurs : Sczesny-Kaiser M, Auteur ; Kowalewski R ; Schildhauer TA ; Aach M ; Jansen O ; Grasmucke D ; Guttsches AK ; Vorgerd M ; Tegenthoff M Année de publication : 2017 Langues : Anglais (eng) Mots-clés : adulte ; aide technique ; dystrophie musculaire des ceintures ; féminin ; groupe de patients ; marche ; masculin ; médecine physique et de réadaptation Pubmed / DOI : DOI : 10.3389/fnins.2017.00449 / Pubmed : 28848377
En ligne : http://www.ncbi.nlm.nih.gov/pubmed/28848377 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement
Unger A, Dekomien G, Guttsches A, et al.
Neurology, 2016, 87, 21, p 2235
Revue : Neurology, 87, 21 Titre : Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement Type de document : Article Auteurs : Unger A, Auteur ; Dekomien G ; Guttsches A ; Dreps T ; Kley R ; Tegenthoff M ; Ferbert A ; Weis J ; Heyer C ; Linke WA ; Martinez-Carrera L ; Storbeck M ; Wirth B ; Hoffjan S ; Vorgerd M Année de publication : 2016 Pages : p 2235 Langues : Anglais (eng) Pubmed / DOI : DOI : 10.1212/WNL.0000000000003360 / Pubmed : 27784775
En ligne : http://www.ncbi.nlm.nih.gov/pubmed/27784775 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Muscle imaging data in late-onset Pompe disease reveal a correlation between the pre-existing degree of lipomatous muscle alterations and the efficacy of long-term enzyme replacement therapy
Gruhn KM, Heyer CM, Guttsches AK, et al.
Molecular genetics and metabolism reports, 2015, 3, p 58
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50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation
Walter MC, Rossius M, Zitzelsberger M, et al.
Neuromuscular disorders : NMD, 2015, 25, 7, p 577
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Urge Incontinence and Gastrointestinal Symptoms in Adult Patients With Pompe Disease: A Cross-Sectional Survey
Karabul N, Skudlarek A, Berndt J, et al.
JIMD reports, 2014, 17, p 53
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Pregnancy and delivery in women with Pompe disease
Karabul N, Berndt J, Kornblum C, et al.
Molecular genetics and metabolism, 2014, 112, 2, p 148
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Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies
Semmler AL, Sacconi S, Bach J, et al.
Orphanet journal of rare diseases, 2014, 9
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Creatine for treating muscle disorders (Review)
Kley RA, Tarnopolsky MA, Vorgerd M
Cochrane Database of Systematic Reviews, 2013, 6, CD004760, p. 1-56
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Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy
Maerkens A, Kley RA, Olivé M, et al.
Journal of Proteomics, 2013, 90, p. 14-27
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Treatment of dysferlinopathy with deflazacort : a double-blind, placebo-controlled clinical trial
Walter MC, Reilich P, Thiele S, et al.
Orphanet journal of rare diseases, 2013, 8, 1, 26, p. 1-15
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Rippling muscle disease : variable phenotype in a family with five afflicted members
Jacobi C, Ruscheweyh R, Vorgerd M, et al.
Muscle & Nerve, 2010, 41, 1, p. 128-132
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Therapeutic options in other metabolic myopathies
Vorgerd M
Neurotherapeutics, 2008, 5, 4, p. 579-582
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Distinct muscle imaging patterns in myofibrillar myopathies
Fischer D, Kley RA, Strach K, et al.
Neurology, 2008, 71, 10, p 758
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Phenotype of three putative novel limb girdle muscular dystrophies (LGMD) – Exclusion of all known LGMD loci with microsatellite analysis (Poster)
Collectif, von der Hagen M, Walter MC, et al.
Neuromuscular disorders : NMD, 2008, 18, 9-10, p. 818-819
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The phenotype of myofibrillar myopathy associated with p.W2710X mutation in filamin C : a study of 31 German patients
Collectif, Kley RA, Kirschner J, et al.
Neuromuscular disorders : NMD, 2008, 18, 9-10, p. 725
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Treatment of glycogenosys type V (McArdle disease) with creatine and ketogenic diet with clinical scores and with 31P-MRS on working leg muscle
Vorgerd M, Zange J
Acta myologica, 2007, XXVI, 1, p. 61-63
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Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF
Diers A, Carl M, Stoltenburg-Didinger G, et al.
Neuromuscular disorders : NMD, 2007, 17, 2, p. 157-162
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Clinical and morphological phenotype of the filamin myopathy : a study of 31 German patients
Kley RA, Hellenbroich Y, van der Ven PFM, et al.
Brain, 2007, 130, 12, p. 3250-3264
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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
Walter MC, Reilich P, Huebner A, et al.
Brain, 2007, 130, 6, p. 1485-1496
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The pathomechanism of filaminopathy : altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy
Lowe T, Kley RA, van der Ven PFM, et al.
Human molecular genetics, 2007, 16, 11, p. 1351-1358
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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
Zhang Q, Bethmann C, Worth NF, et al.
Human molecular genetics, 2007, 16, 23, p. 2816-2833
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Gentamicin treatment in McArdle disease : failure to correct myophosphorylase deficiency
Schroers A, Kley RA, Stachon A, et al.
Neurology, 2006, 66, 2, p. 285-286
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