John Vissing
Clinical Professor
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Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders.
Angelini, C., Federico, A., Reichmann, H., Lombes, A., Vianey-Saban, C., Chinnery, P., Turnbull, D. & Vissing, John, 2011, Task force guidelines handbook.: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders.. 2 ed. Blackwell Publishing, Vol. 1. p. 501-511Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research › peer-review
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A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging
Anvar, S. Y., Raz, Y., Verway, N., van der Sluijs, B., Venema, A., Goeman, J. J., Vissing, John, van der Maarel, S. M., 't Hoen, P. A. C., van Engelen, B. G. M. & Raz, V., 2013, In: Aging. 5, 6, p. 412-26 15 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Deregulation of the ubiquitin-proteasome system is the predominant molecular pathology in OPMD animal models and patients
Anvar, S. Y., hoen, P. A., Venema, A., van der Sluijs, B., van Engelen, B., Snoeck, M., Vissing, John, Trollet, C., Dickson, G., Chartier, A., Simonelig, M., van Ommen, G. B., van der Maarel, S. M. & Raz, V., 2011, In: Skeletal Muscle. 1, 1, p. 15Research output: Contribution to journal › Journal article › Research › peer-review
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Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies
Bachmann, C., Franchini, M., Van Den Bersselaar, L. R., Kruijt, N., Voermans, N. C., Bouman, K., Kamsteeg, E. J., Knop, K. C., Ruggiero, L., Santoro, L., Nevo, Y., Wilmshurst, J., Vissing, John, Sinnreich, M., Zorzato, D., Muntoni, F., Jungbluth, H., Zorzato, F. & Treves, S., 2022, In: Brain Communications. 4, 5, fcac224.Research output: Contribution to journal › Journal article › Research › peer-review
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Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies
Bachmann, C., Noreen, F., Voermans, N. C., Schär, P. L., Vissing, John, Fock, J. M., Bulk, S., Kusters, B., Moore, S. A., Beggs, A. H., Mathews, K. D., Meyer, M., Genetti, C. A., Meola, G., Cardani, R., Mathews, E., Jungbluth, H., Muntoni, F., Zorzato, F. & Treves, S., Jul 2019, In: Human Mutation. 40, 7, p. 962-974 13 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy
Barington, M., Dunø, M., Birkedal, U., Vissing, John, Born, A. P., Krag, T., Hansen, Thomas van Overeem & Østergaard, Elsebet, 2023, In: Neuromuscular Disorders. 33, 7, p. 539-545 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
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European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)
Barp, A., Laforet, P., Bello, L., Tasca, G., Vissing, J., Monforte, M., Ricci, E., Choumert, A., Stojkovic, T., Malfatti, E., Pegoraro, E., Semplicini, C., Stramare, R., Scheidegger, O., Haberlova, J., Straub, V., Marini-Bettolo, C., Løkken, N., Diaz-Manera, J., Urtizberea, J. A. & 4 others, , Jan 2020, In: Journal of Neurology. 267, 1, p. 45-56 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Nampt controls skeletal muscle development by maintaining Ca2+ homeostasis and mitochondrial integrity
Basse, A. L., Agerholm, M., Farup, J., Dalbram, E., Nielsen, J., Ørtenblad, N., Altıntaş, A., Ehrlich, A. M., Krag, T., Bruzzone, S., Dall, M., de Guia, R. M., Jensen, J. B., Møller, A. B., Karlsen, A., Kjær, M., Barrès, R., Vissing, J., Larsen, S., Jessen, N. & 1 others, , 2021, In: Molecular Metabolism. 53, 101271.Research output: Contribution to journal › Journal article › Research › peer-review
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Novel truncating variants in FGD1 detected in two Danish families with Aarskog–Scott syndrome and myopathic features
Bayat, A., Krett, B., Dunø, M., Torring, P. M. & Vissing, John, 2022, In: American Journal of Medical Genetics, Part A. 188, 7, p. 2251-2257 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency
Ben Yaou, R., Hubert, A., Nelson, I., Dahlqvist, J. R., Gaist, D., Streichenberger, N., Beuvin, M., Krahn, M., Petiot, P., Parisot, F., Michel, F., Malfatti, E., Romero, N., Carlier, R. Y., Eymard, B., Labrune, P., Duno, M., Krag, T., Cerino, M., Bartoli, M. & 4 others, , Dec 2017, In: Neurology: Genetics. 3, 6, 11 p., e208.Research output: Contribution to journal › Journal article › Research › peer-review
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Anti-gravity training improves walking capacity and postural balance in patients with muscular dystrophy
Berthelsen, M. P., Husu, E., Christensen, S. B., Prahm, K. P., Vissing, John & Jensen, B. R., 2014, In: Neuromuscular Disorders. 24, 6, p. 492-498 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Diagnosis and management of metabolic myopathies
Bhai, S. F. & Vissing, John, 2023, In: Muscle & Nerve. 68, 3, p. 250-256 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study
Björkman, K., Vissing, John, Østergaard, Elsebet, Bindoff, L. A., de Coo, I. F. M., Engvall, M., Hikmat, O., Isohanni, P., Kollberg, G., Lindberg, C., Majamaa, K., Naess, K., Uusimaa, J., Tulinius, M. & Darin, N., 2023, In: Journal of Medical Genetics. 60, 1, p. 65-73 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Three novel FHL1 variants cause a mild phenotype of Emery-Dreifuss muscular dystrophy
Borch, J. D. S., Krag, T., Holm-Yildiz, S. D., Cetin, H., Solheim, T. A., Fornander, F., Straub, V., Duno, M. & Vissing, John, 2022, In: Human Mutation. 43, 9, p. 1234-1238 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Expanding the phenotype of filamin-C-related myofibrillar myopathy
Borch, J. D. S., Eisum, A. S. V., Krag, T. & Vissing, John, 2019, In: Clinical Neurology and Neurosurgery. 176, p. 30-33 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
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A mitochondrial tRNA(Met) mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood
Born, A. P., Duno, M., Rafiq, J., Risom, L., Wibrand, F., Østergaard, Elsebet & Vissing, John, Jan 2015, In: European Journal of Paediatric Neurology. 19, 1, p. 69-71 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation
Born, A. P., Müller, K., Marquart, Hanne Vibeke Hansen, Heilmann, C., Schejbel, L. & Vissing, John, 1 Feb 2010, In: Neuromuscular Disorders. 20, 2, p. 136-8 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Efficacy and Safety of Rozanolixizumab in Moderate to Severe Generalized Myasthenia Gravis: A Phase 2 Randomized Control Trial
MG0002 Investigators, M. I., 9 Feb 2021, In: Neurology. 96, 6, p. e853-e865 14 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Phenotypic spectrum of α-dystroglycanopathies associated with the c.919t>a variant in the FKRP gene in humans and mice
Brown, S. C., Fernandez-Fuente, M., Muntoni, F. & Vissing, John, 2020, In: Journal of Neuropathology and Experimental Neurology. 79, 12, p. 1257-1264 8 p.Research output: Contribution to journal › Review › Research › peer-review
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Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy
Bryen, S. J., Ewans, L. J., Pinner, J., MacLennan, S. C., Donkervoort, S., Castro, D., Töpf, A., O'Grady, G., Cummings, B., Chao, K. R., Weisburd, B., Francioli, L., Faiz, F., Bournazos, A. M., Hu, Y., Grosmann, C., Malicki, D. M., Doyle, H., Witting, N., Vissing, J. & 15 others, , 29 Oct 2020, In: Human Mutation. 41, 2, p. 403-411 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Energy metabolism during exercise in patients with β-enolase deficiency (GSDXIII)
Buch, A. E., Musumeci, O., Wigley, R., Stemmerik, M. P. G., Eisum, A. S. V., Madsen, K. L., Preisler, N., Hilton-Jones, D., Quinlivan, R., Toscano, A. & Vissing, John, 2021, In: JIMD Reports. 61, 1, p. 60-66Research output: Contribution to journal › Journal article › Research › peer-review
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Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy
Böhm, J., Biancalana, V., Dechene, E. T., Bitoun, M., Pierson, C. R., Schaefer, E., Karasoy, H., Dempsey, M. A., Klein, F., Dondaine, N., Kretz, C., Haumesser, N., Poirson, C., Toussaint, A., Greenleaf, R. S., Barger, M. A., Mahoney, L. J., Kang, P. B., Zanoteli, E., Vissing, J. & 48 others, , 2012, In: Human Mutation. 33, 6, p. 949-59 11 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Muscle strength in myasthenia gravis
Cejvanovic, S. & Vissing, John, Jun 2014, In: Acta Neurologica Scandinavica. 129, 6, p. 367-373 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
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MYO-MRI diagnostic protocols in genetic myopathies
Chardon, J. W., Díaz-Manera, J., Tasca, G., Bönnemann, C. G., Gómez-Andrés, D., Heerschap, A., Mercuri, E., Muntoni, F., Pichiecchio, A., Ricci, E., Walter, M. C., Hanna, M., Jungbluth, H., Morrow, J. M., Torrón, R. F., Udd, B., Vissing, J., Yousry, T., Quijano-Roy, S., Straub, V. & 2 others, , Nov 2019, In: Neuromuscular Disorders. 29, 11, p. 827-841Research output: Contribution to journal › Review › Research › peer-review
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Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy
Citirak, G., Witting, N., Duno, M., Werlauff, U., Petri, H. & Vissing, John, Apr 2014, In: Neuromuscular Disorders. 24, 4, p. 325-30 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 915367
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245
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Skeletal muscle metabolism during prolonged exercise in Pompe disease
Research output: Contribution to journal › Journal article › Research › peer-review
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225
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Reliability of the 2- and 6-minute walk tests in neuromuscular diseases
Research output: Contribution to journal › Letter › Research › peer-review
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186
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Aerobic Training in Patients with Congenital Myopathy
Research output: Contribution to journal › Journal article › Research › peer-review
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