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Items: 1 to 50 of 285

1.

Muscle contractility in spinobulbar muscular atrophy.

Dahlqvist JR, Oestergaard ST, Poulsen NS, Knak KL, Thomsen C, Vissing J.

Sci Rep. 2019 Mar 18;9(1):4680. doi: 10.1038/s41598-019-41240-y.

2.

Congenital myopathies are mainly associated with a mild cardiac phenotype.

Petri H, Wahbi K, Witting N, Køber L, Bundgaard H, Kamoun E, Vellieux G, Stojkovic T, Béhin A, Laforet P, Vissing J.

J Neurol. 2019 Mar 14. doi: 10.1007/s00415-019-09267-3. [Epub ahead of print]

PMID:
30874888
3.

Adaptations in Mitochondrial Enzymatic Activity Occurs Independent of Genomic Dosage in Response to Aerobic Exercise Training and Deconditioning in Human Skeletal Muscle.

Fritzen AM, Thøgersen FB, Thybo K, Vissing CR, Krag TO, Ruiz-Ruiz C, Risom L, Wibrand F, Høeg LD, Kiens B, Duno M, Vissing J, Jeppesen TD.

Cells. 2019 Mar 12;8(3). pii: E237. doi: 10.3390/cells8030237.

4.

Relationship between muscle inflammation and fat replacement assessed by MRI in facioscapulohumeral muscular dystrophy.

Dahlqvist JR, Andersen G, Khawajazada T, Vissing C, Thomsen C, Vissing J.

J Neurol. 2019 Feb 18. doi: 10.1007/s00415-019-09242-y. [Epub ahead of print]

PMID:
30778707
5.

Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study.

Pena LDM, Barohn RJ, Byrne BJ, Desnuelle C, Goker-Alpan O, Ladha S, Laforêt P, Mengel KE, Pestronk A, Pouget J, Schoser B, Straub V, Trivedi J, Van Damme P, Vissing J, Young P, Kacena K, Shafi R, Thurberg BL, Culm-Merdek K, van der Ploeg AT; NEO1 Investigator Group.

Neuromuscul Disord. 2019 Mar;29(3):167-186. doi: 10.1016/j.nmd.2018.12.004. Epub 2018 Dec 17.

6.

Long-term safety and efficacy of eculizumab in generalized myasthenia gravis.

Muppidi S, Utsugisawa K, Benatar M, Murai H, Barohn RJ, Illa I, Jacob S, Vissing J, Burns TM, Kissel JT, Nowak RJ, Andersen H, Casasnovas C, de Bleecker JL, Vu TH, Mantegazza R, O'Brien FL, Wang JJ, Fujita KP, Howard JF Jr; Regain Study Group.

Muscle Nerve. 2019 Feb 14. doi: 10.1002/mus.26447. [Epub ahead of print]

PMID:
30767274
7.

Paternal comeback in mitochondrial DNA inheritance.

Vissing J.

Proc Natl Acad Sci U S A. 2019 Jan 29;116(5):1475-1476. doi: 10.1073/pnas.1821192116. Epub 2019 Jan 11. No abstract available.

PMID:
30635426
8.

Refining the spinobulbar muscular atrophy phenotype by quantitative MRI and clinical assessments.

Dahlqvist JR, Oestergaard ST, Poulsen NS, Thomsen C, Vissing J.

Neurology. 2019 Feb 5;92(6):e548-e559. doi: 10.1212/WNL.0000000000006887. Epub 2019 Jan 4.

PMID:
30610091
9.

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.

Alonso-Jimenez A, Kroon RHMJM, Alejaldre-Monforte A, Nuñez-Peralta C, Horlings CGC, van Engelen BGM, Olivé M, González L, Verges-Gil E, Paradas C, Márquez C, Garibaldi M, Gallano P, Rodriguez MJ, Gonzalez-Quereda L, Dominguez Gonzalez C, Vissing J, Fornander F, Eisum AV, García-Sobrino T, Pardo J, García-Figueiras R, Muelas N, Vilchez JJ, Kapetanovic S, Tasca G, Monforte M, Ricci E, Gomez MT, Bevilacqua JA, Diaz-Jara J, Zamorano II, Carlier RY, Laforet P, Pelayo-Negro A, Ramos-Fransi A, Martínez A, Marini-Bettolo C, Straub V, Gutiérrez G, Stojkovic T, Martín MA, Morís G, Fernández-Torrón R, Lopez De Munaín A, Cortes-Vicente E, Querol L, Rojas-García R, Illa I, Diaz-Manera J.

J Neurol Neurosurg Psychiatry. 2018 Dec 8. pii: jnnp-2018-319578. doi: 10.1136/jnnp-2018-319578. [Epub ahead of print]

PMID:
30530568
10.

Muscle Strength and Aerobic Capacity in Patients with CIDP One Year after Participation in an Exercise Trial.

Markvardsen LK, Carstens AR, Knak KL, Overgaard K, Vissing J, Andersen H.

J Neuromuscul Dis. 2019;6(1):93-97. doi: 10.3233/JND-180344.

PMID:
30507584
11.

Expanding the phenotype of filamin-C-related myofibrillar myopathy.

Borch JS, Eisum AV, Krag T, Vissing J.

Clin Neurol Neurosurg. 2019 Jan;176:30-33. doi: 10.1016/j.clineuro.2018.11.013. Epub 2018 Nov 19.

PMID:
30496909
12.

Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial.

Grunseich C, Miller R, Swan T, Glass DJ, El Mouelhi M, Fornaro M, Petricoul O, Vostiar I, Roubenoff R, Meriggioli MN, Kokkinis A, Guber RD, Budron MS, Vissing J, Soraru G, Mozaffar T, Ludolph A, Kissel JT, Fischbeck KH; BVS857 study group.

Lancet Neurol. 2018 Dec;17(12):1043-1052. doi: 10.1016/S1474-4422(18)30320-X. Epub 2018 Oct 15.

PMID:
30337273
13.

Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression.

Sloth CK, Denti F, Schmitt N, Bentzen BH, Fagerberg C, Vissing J, Gaist D.

Neurol Genet. 2018 Sep 19;4(5):e267. doi: 10.1212/NXG.0000000000000267. eCollection 2018 Oct. No abstract available.

14.

Disease progression and outcome measures in spinobulbar muscular atrophy.

Dahlqvist JR, Fornander F, de Stricker Borch J, Oestergaard ST, Poulsen NS, Vissing J.

Ann Neurol. 2018 Nov;84(5):754-765. doi: 10.1002/ana.25345. Epub 2018 Oct 25.

PMID:
30255951
15.

l-Carnitine Improves Skeletal Muscle Fat Oxidation in Primary Carnitine Deficiency.

Madsen KL, Preisler N, Rasmussen J, Hedermann G, Olesen JH, Lund AM, Vissing J.

J Clin Endocrinol Metab. 2018 Dec 1;103(12):4580-4588. doi: 10.1210/jc.2018-00953.

PMID:
30219858
16.

Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency.

Vissing J, Akman HO, Aasly J, Kahler SG, Bacino CA, DiMauro S, Haller RG.

Neurology. 2018 Sep 11;91(11):e1077-e1082. doi: 10.1212/WNL.0000000000006165. Epub 2018 Aug 15.

PMID:
30111548
17.

Altered somatosensory neurovascular response in patients with Becker muscular dystrophy.

Lindberg U, Kruuse C, Witting N, Jørgensen SL, Vissing J, Rostrup E, Larsson HBW.

Brain Behav. 2018 Jun;8(6):e00985. doi: 10.1002/brb3.985. Epub 2018 Apr 24.

18.

BAG3 myopathy is not always associated with cardiomyopathy.

Andersen AG, Fornander F, Schrøder HD, Krag T, Straub V, Duno M, Vissing J.

Neuromuscul Disord. 2018 Sep;28(9):798-801. doi: 10.1016/j.nmd.2018.06.019. Epub 2018 Jul 5.

PMID:
30061062
19.

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.

Johnson K, Bertoli M, Phillips L, Töpf A, Van den Bergh P, Vissing J, Witting N, Nafissi S, Jamal-Omidi S, Łusakowska A, Kostera-Pruszczyk A, Potulska-Chromik A, Deconinck N, Wallgren-Pettersson C, Strang-Karlsson S, Colomer J, Claeys KG, De Ridder W, Baets J, von der Hagen M, Fernández-Torrón R, Zulaica Ijurco M, Espinal Valencia JB, Hahn A, Durmus H, Willis T, Xu L, Valkanas E, Mullen TE, Lek M, MacArthur DG, Straub V.

Skelet Muscle. 2018 Jul 30;8(1):23. doi: 10.1186/s13395-018-0170-1.

20.

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency.

Abu Bakar N, Voermans NC, Marquardt T, Thiel C, Janssen MCH, Hansikova H, Crushell E, Sykut-Cegielska J, Bowling F, MØrkrid L, Vissing J, Morava E, van Scherpenzeel M, Lefeber DJ.

Transl Res. 2018 Sep;199:62-76. doi: 10.1016/j.trsl.2018.04.008. Epub 2018 May 10.

21.

Muscle contractility of leg muscles in patients with mitochondrial myopathies.

Poulsen NS, Dahlqvist JR, Hedermann G, Løkken N, Vissing J.

Mitochondrion. 2018 Jul 11. pii: S1567-7249(17)30341-0. doi: 10.1016/j.mito.2018.07.001. [Epub ahead of print]

PMID:
30017555
22.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG.

Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241.

PMID:
29691892
23.
24.

Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform.

Vaeth S, Christensen R, Dunø M, Lildballe DL, Thorsen K, Vissing J, Svenstrup K, Hertz JM, Andersen H, Jensen UB.

Eur J Med Genet. 2019 Jan;62(1):1-8. doi: 10.1016/j.ejmg.2018.04.003. Epub 2018 Apr 11.

PMID:
29653220
25.

Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome.

Witting N, Laforêt P, Voermans NC, Roux-Buisson N, Bompaire F, Rendu J, Duno M, Feillet F, Kamsteeg EJ, Poulsen NS, Dahlqvist JR, Romero NB, Fauré J, Vissing J, Behin A.

Acta Neurol Scand. 2018 May;137(5):452-461. doi: 10.1111/ane.12885. Epub 2017 Dec 29.

PMID:
29635721
26.

Progressive fat replacement of muscle contributes to the disease mechanism of patients with single, large-scale deletions of mitochondrial DNA.

Hedermann G, Dahlqvist JR, Løkken N, Vissing CR, Knak KL, Andersen LK, Thomsen C, Vissing J.

Neuromuscul Disord. 2018 May;28(5):408-413. doi: 10.1016/j.nmd.2018.02.008. Epub 2018 Feb 21.

PMID:
29567350
27.

Remodel mitochondria and get energized.

Vissing J, Angelini C.

Neurology. 2018 Apr 3;90(14):633-634. doi: 10.1212/WNL.0000000000005243. Epub 2018 Mar 2. No abstract available.

PMID:
29500288
28.

Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts.

Witting N, Krag T, Werlauff U, Duno M, Oestergaard ST, Dahlqvist JR, Vissing J.

Muscle Nerve. 2018 Jun;57(6):1026-1030. doi: 10.1002/mus.26067. Epub 2018 Feb 5.

PMID:
29342313
29.

Aerobic anti-gravity exercise in patients with Charcot-Marie-Tooth disease types 1A and X: A pilot study.

Knak KL, Andersen LK, Vissing J.

Brain Behav. 2017 Nov 2;7(12):e00794. doi: 10.1002/brb3.794. eCollection 2017 Dec.

30.

Lecocytes mutation load declines with age in carriers of the m.3243A>G mutation: A 10-year Prospective Cohort.

Langdahl JH, Larsen M, Frost M, Andersen PH, Yderstraede KB, Vissing J, Dunø M, Thomassen M, Frederiksen AL.

Clin Genet. 2018 Apr;93(4):925-928. doi: 10.1111/cge.13201.

PMID:
29266179
31.

Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.

Ben Yaou R, Hubert A, Nelson I, Dahlqvist JR, Gaist D, Streichenberger N, Beuvin M, Krahn M, Petiot P, Parisot F, Michel F, Malfatti E, Romero N, Carlier RY, Eymard B, Labrune P, Duno M, Krag T, Cerino M, Bartoli M, Bonne G, Vissing J, Laforet P, Petit FM.

Neurol Genet. 2017 Dec 18;3(6):e208. doi: 10.1212/NXG.0000000000000208. eCollection 2017 Dec.

32.

Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study.

Jeppesen TD, Al-Hashimi N, Duno M, Wibrand F, Andersen G, Vissing J.

Clin Case Rep. 2017 Nov 2;5(12):2034-2039. doi: 10.1002/ccr3.1096. eCollection 2017 Dec.

33.

Limb girdle muscular dystrophy due to mutations in POMT2.

Østergaard ST, Johnson K, Stojkovic T, Krag T, De Ridder W, De Jonghe P, Baets J, Claeys KG, Fernández-Torrón R, Phillips L, Topf A, Colomer J, Nafissi S, Jamal-Omidi S, Bouchet-Seraphin C, Leturcq F, MacArthur DG, Lek M, Xu L, Nelson I, Straub V, Vissing J.

J Neurol Neurosurg Psychiatry. 2018 May;89(5):506-512. doi: 10.1136/jnnp-2017-317018. Epub 2017 Nov 24.

PMID:
29175898
34.

Exercising with blocked muscle glycogenolysis: Adaptation in the McArdle mouse.

Nielsen TL, Pinós T, Brull A, Vissing J, Krag TO.

Mol Genet Metab. 2018 Jan;123(1):21-27. doi: 10.1016/j.ymgme.2017.11.006. Epub 2017 Nov 21.

PMID:
29174367
35.

Muscle glycogen synthesis and breakdown are both impaired in glycogenin-1 deficiency.

Stemmerik MG, Madsen KL, Laforêt P, Buch AE, Vissing J.

Neurology. 2017 Dec 12;89(24):2491-2494. doi: 10.1212/WNL.0000000000004752. Epub 2017 Nov 15.

PMID:
29142088
36.

Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study.

Howard JF Jr, Utsugisawa K, Benatar M, Murai H, Barohn RJ, Illa I, Jacob S, Vissing J, Burns TM, Kissel JT, Muppidi S, Nowak RJ, O'Brien F, Wang JJ, Mantegazza R; REGAIN Study Group.

Lancet Neurol. 2017 Dec;16(12):976-986. doi: 10.1016/S1474-4422(17)30369-1. Epub 2017 Oct 20. Erratum in: Lancet Neurol. 2017 Dec;16(12 ):954.

PMID:
29066163
37.

Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene: a case report.

Soldath P, Madsen KL, Buch AE, Duno M, Wibrand F, Vissing J.

BMC Musculoskelet Disord. 2017 Oct 19;18(1):419. doi: 10.1186/s12891-017-1781-0.

38.

The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized study.

Andersen G, Hedermann G, Witting N, Duno M, Andersen H, Vissing J.

Brain. 2017 Sep 1;140(9):2295-2305. doi: 10.1093/brain/awx192.

PMID:
29050397
39.

Treatment Opportunities in Patients With Metabolic Myopathies.

Ørngreen MC, Vissing J.

Curr Treat Options Neurol. 2017 Sep 21;19(11):37. doi: 10.1007/s11940-017-0473-2. Review.

PMID:
28932990
40.

MRI in sarcoglycanopathies: a large international cohort study.

Tasca G, Monforte M, Díaz-Manera J, Brisca G, Semplicini C, D'Amico A, Fattori F, Pichiecchio A, Berardinelli A, Maggi L, Maccagnano E, Løkken N, Marini-Bettolo C, Munell F, Sanchez A, Alshaikh N, Voermans NC, Dastgir J, Vlodavets D, Haberlová J, Magnano G, Walter MC, Quijano-Roy S, Carlier RY, van Engelen BGM, Vissing J, Straub V, Bönnemann CG, Mercuri E, Muntoni F, Pegoraro E, Bertini E, Udd B, Ricci E, Bruno C.

J Neurol Neurosurg Psychiatry. 2018 Jan;89(1):72-77. doi: 10.1136/jnnp-2017-316736. Epub 2017 Sep 9.

PMID:
28889091
41.

Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency.

Preisler N, Cohen J, Vissing CR, Madsen KL, Heinicke K, Sharp LJ, Phillips L, Romain N, Park SY, Newby M, Wyrick P, Mancias P, Galbo H, Vissing J, Haller RG.

Mol Genet Metab. 2017 Nov;122(3):117-121. doi: 10.1016/j.ymgme.2017.08.007. Epub 2017 Aug 25.

PMID:
28882528
42.

Screening for late-onset Pompe disease in western Denmark.

Hansen JS, Pedersen EG, Gaist D, Bach FW, Vilholm OJ, Sandal B, Weitemeyer L, Nielsen K, Schlesinger FE, Preisler N, Vissing J, Andersen H.

Acta Neurol Scand. 2018 Jan;137(1):85-90. doi: 10.1111/ane.12811. Epub 2017 Aug 22.

PMID:
28832912
43.

Update on new muscle glycogenosis.

Laforêt P, Malfatti E, Vissing J.

Curr Opin Neurol. 2017 Oct;30(5):449-456. doi: 10.1097/WCO.0000000000000484. Review.

PMID:
28737584
44.

DOK7 congenital myasthenia may be associated with severe mitral valve insufficiency.

Gaist D, Mogensen J, Pedersen EG, Schrøder HD, Vissing J, Andersen H, Hertz JM.

J Neurol Sci. 2017 Aug 15;379:217-218. doi: 10.1016/j.jns.2017.06.005. Epub 2017 Jun 7. No abstract available.

PMID:
28716243
45.

Mitochondrial Point Mutation m.3243A>G Associates With Lower Bone Mineral Density, Thinner Cortices, and Reduced Bone Strength: A Case-Control Study.

Langdahl JH, Frederiksen AL, Hansen SJ, Andersen PH, Yderstraede KB, Dunø M, Vissing J, Frost M.

J Bone Miner Res. 2017 Oct;32(10):2041-2048. doi: 10.1002/jbmr.3193. Epub 2017 Jul 18.

46.

1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15-16 November 2016, Evry, France.

Marsolier J, Laforet P, Pegoraro E, Vissing J, Richard I; Sarcoglycanopathies Working Group.

Neuromuscul Disord. 2017 Jul;27(7):683-692. doi: 10.1016/j.nmd.2017.02.011. Epub 2017 Mar 3. No abstract available.

PMID:
28521973
47.

Skeletal muscle metabolism during prolonged exercise in Pompe disease.

Preisler N, Laforêt P, Madsen KL, Husu E, Vissing CR, Hedermann G, Galbo H, Lindberg C, Vissing J.

Endocr Connect. 2017 Aug;6(6):384-394. doi: 10.1530/EC-17-0042. Epub 2017 May 10.

48.

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience.

van der Ploeg AT, Kruijshaar ME, Toscano A, Laforêt P, Angelini C, Lachmann RH, Pascual Pascual SI, Roberts M, Rösler K, Stulnig T, van Doorn PA, Van den Bergh PYK, Vissing J, Schoser B; European Pompe Consortium.

Eur J Neurol. 2017 Jun;24(6):768-e31. doi: 10.1111/ene.13285. Epub 2017 May 6. Review.

PMID:
28477382
49.

High-intensity interval training in facioscapulohumeral muscular dystrophy type 1: a randomized clinical trial.

Andersen G, Heje K, Buch AE, Vissing J.

J Neurol. 2017 Jun;264(6):1099-1106. doi: 10.1007/s00415-017-8497-9. Epub 2017 May 3.

PMID:
28470591
50.

Glycogen Synthesis in Glycogenin 1-Deficient Patients: A Role for Glycogenin 2 in Muscle.

Krag TO, Ruiz-Ruiz C, Vissing J.

J Clin Endocrinol Metab. 2017 Aug 1;102(8):2690-2700. doi: 10.1210/jc.2017-00399.

PMID:
28453664

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