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Auteur Vissing J |
Documents disponibles écrits par cet auteur



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Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
Scalco RS, Lucia A, Santalla A, et al.
Orphanet journal of rare diseases, 2020, 15, 1, p 330
Revue : Orphanet journal of rare diseases, 15, 1 Titre : Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) Type de document : Article Auteurs : Scalco RS ; Lucia A ; Santalla A ; Martinuzzi A ; Vavla M ; Reni G ; Toscano A ; Musumeci O ; Voermans NC ; Kouwenberg CV ; Laforêt P ; San-Millán B ; Viéitez I ; Siciliano G ; Kühnle E ; Trost R ; Sacconi S ; Stemmerik MG ; Durmus H ; Kierdaszuk B ; Wakelin A ; Andreu AL ; Pinos T ; Marti R ; Quinlivan R ; Vissing J Année de publication : 24/11/2020 Pages : p 330 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33234167 / DOI : 10.1186/s13023-020-01562-x
N° Profil MNM : 2020121 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33234167 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Efficacy and safety of rozanolixizumab in moderate-to-severe generalised myasthenia gravis: A phase 2 RCT
Bril V, Benatar M, Andersen H, et al.
Neurology, 2020
Revue : Neurology Titre : Efficacy and safety of rozanolixizumab in moderate-to-severe generalised myasthenia gravis: A phase 2 RCT Type de document : Article Auteurs : Bril V ; Benatar M ; Andersen H ; Vissing J ; Brock M ; Greve B ; Kiessling P ; Woltering F ; Griffin L ; van den Bergh P Editeur : United States Année de publication : 20/11/2020 Langues : Anglais (eng) Lien associé : NCT03052751 Pubmed / DOI : Pubmed : 33219142 / DOI : 10.1212/WNL.0000000000011108
N° Profil MNM : 2020112 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33219142 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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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Deep phenotyping of Facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging
Giacomucci G, Monforte M, Diaz-Manera J, et al.
European journal of neurology, 2020
Revue : European journal of neurology Titre : Deep phenotyping of Facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging Type de document : Article Auteurs : Giacomucci G ; Monforte M ; Diaz-Manera J ; Mul K ; Fernández-Torrón R ; Maggi L ; Marini Bettolo C ; Dahlqvist JR ; Haberlova J ; Camano P ; Gros M ; Tartaglione T ; Cristiano L ; Gerevini S ; Calandra P ; Deidda G ; Giardina E ; Sacconi S ; Straub V ; Vissing J ; van Engelen B ; Ricci E ; Tasca G Editeur : England Année de publication : 07/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32697863 / DOI : 10.1111/ene.14446
N° Profil MNM : 2020072 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32697863 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Evaluation of inflammatory lesions over 2 years in facioscapulohumeral muscular dystrophy
Dahlqvist JR, Poulsen NS, Østergaard ST, et al.
Neurology, 2020
Revue : Neurology Titre : Evaluation of inflammatory lesions over 2 years in facioscapulohumeral muscular dystrophy Type de document : Article Auteurs : Dahlqvist JR ; Poulsen NS ; Østergaard ST ; Fornander F ; de Stricker Borch J ; Danielsen ER ; Thomsen C ; Vissing J Editeur : United States Année de publication : 07/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32611642 / DOI : 10.1212/WNL.0000000000010155
N° Profil MNM : 2020062 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32611642 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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MRI IN NEUROMUSCULAR DISEASES: AN EMERGING DIAGNOSTIC TOOL AND BIOMARKER FOR PROGNOSIS AND EFFICACY
Dahlqvist JR, Widholm P, Leinhard OD, et al.
Annals of neurology, 2020
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Intrarater reliability and validity of outcome measures in myotonic dystrophy type 1
Knak KL, Sheikh AM, Andersen H, et al.
Neurology, 2020, 94, 24
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Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9
Murphy LB, Schreiber-Katz O, Rafferty K, et al.
Annals of clinical and translational neurology, 2020, 7, 5, p 757
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A new glycogen storage disease caused by a dominant PYGM mutation
Echaniz-Laguna A, Lornage X, Laforêt P, et al.
Annals of neurology, 2020
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'Minimal symptom expression' in patients with acetylcholine receptor antibody-positive refractory generalized myasthenia gravis treated with eculizumab
Vissing J, Jacob S, Fujita KP, et al.
Journal of neurology, 2020
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Titrating a modified ketogenic diet for patients with McArdle disease: A pilot study
Lokken N, Hansen KK, Storgaard JH, et al.
Journal of inherited metabolic disease, 2020
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Physical activity in myotonic dystrophy type 1
Knak KL, Sheikh AM, Witting N, et al.
Journal of neurology, 2020
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Late-onset MADD: a rare cause of cirrhosis and acute liver failure?
Soldath P, Lund A, Vissing J
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2020, 39, 1, p 19
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Responsiveness of outcome measures in myotonic dystrophy type 1
Knak KL, Sheikh AM, Witting N, et al.
Annals of clinical and translational neurology, 2020
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New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
Alonso-Perez J, Gonzalez-Quereda L, Bello L, et al.
Brain : a journal of neurology, 2020, 143, 9, p 2696
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Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1
Hildonen M, Knak KL, Duno M, et al.
Genes, 2020, 11, 8, p 936
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Age-Associated Salivary MicroRNA Biomarkers for Oculopharyngeal Muscular Dystrophy
Raz V, Kroon RHMJM, Mei H, et al.
International Journal of molecular sciences, 2020, 21, 17
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Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies
Verdu-Diaz J, Alonso-Perez J, Nunez-Peralta C, et al.
Neurology, 2020, 94, 10, p e1094
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Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy (MOTOR trial)
Madsen KL, Buch AE, Cohen BH, et al.
Neurology, 2020
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Contractile properties are impaired in congenital myopathies
Eisum AV, Fornander F, Poulsen NS, et al.
Neuromuscular disorders : NMD, 2020, 30, 8, p 649
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Results of an open label feasibility study of sodium valproate in people with McArdle disease
Scalco RS, Stemmerik M, Lokken N, et al.
Neuromuscular disorders : NMD, 2020, 30, 9, p 734
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Exercise therapy for muscle and lower motor neuron diseases
Sheikh AM, Vissing J
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2019, 38, 4, p 215
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MYO-MRI diagnostic protocols in genetic myopathies.
Chardon JW, Diaz-Manera J, Tasca G, et al.
Neuromuscular disorders : NMD, 2019, 29, 11, p 827
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Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment
Laforêt P, Inoue M, Goillot E, et al.
Acta neuropathologica communications, 2019, 7, 1, p 167
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POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy
Vissing J, Johnson K, Töpf A, et al.
Annals of neurology, 2019
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