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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
Hydroxylated long-chain acylcarnitines are biomarkers of mitochondrial myopathy
Vissing CR, Duno M, Wibrand F, et al.
Journal of clinical endocrinology and metabolism (The), 2019
BAG3 myopathy is not always associated with cardiomyopathy
Andersen AG, Fornander F, Schroder HD, et al.
Neuromuscular disorders : NMD, 2018, 28, 9, p 798
Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome.
Witting N, Laforêt P, Voermans NC, et al.
Acta neurologica Scandinavica, 2018, 137, 5, p. 452-461
Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform.
Vaeth S, Christensen R, Duno M, et al.
European journal of medical genetics, 2018, Epub, 8 p.
Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts.
Witting N, Krag T, Werlauff U, et al.
Muscle & Nerve, 2018, Epub, 5 p.
Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.
Ben Yaou R, Hubert A, Nelson I, et al.
Neurology. Genetics, 2017, 3, 6, e208, 10 p.
The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized study.
Andersen G, Hedermann G, Witting N, et al.
Brain : a journal of neurology, 2017, 140, 9, p. 2295-2305
Reply: Dominant LGMD2A: alternative diagnosis or hidden digenism?
Vissing J, Duno M
Brain : a journal of neurology, 2017, 140, Pt 2, p. e8
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy
Vissing J, Barresi R, Witting N, et al.
Brain : a journal of neurology, 2016, Epub, 10 p.
Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E.
Semplicini C, Vissing J, Dahlqvist JR, et al.
Neurology, 2015, 84, 17, p. 1772-81
Clinical and neurophysiological response to pharmacological treatment of DOK7 congenital myasthenia in an older patient.
Witting N, Crone C, Duno M, et al.
Clinical neurology and neurosurgery, 2015, 130C, Epub, p. 168-170
Cardiac involvement in myotonic dystrophy: a nationwide cohort study.
Lund M, Diaz LJ, Ranthe MF, et al.
European heart journal, 2014, 35, 32, p. 2158-64
Risk of cancer in relatives of patients with myotonic dystrophy: a population-based cohort study.
Lund M, Diaz LJ, Gørtz S, et al.
European journal of neurology : the official journal of the European Federation of Neurological Societies, 2014, Epub
Severe axial myopathy in McArdle Disease
Witting N, Duno M, Piraud M, et al.
JAMA neurology, 2014, 71, 1, p. 88-90
Anoctamin 5 muscular dystrophy in Denmark : prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression
Witting N, Duno M, Petri H, et al.
Journal of neurology, 2013, 260, 8, p. 2084-2093
Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2
Witting N, Duno M, Vissing J
Neuromuscular disorders : NMD, 2013, 23, 1, p. 25-28
Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies
Preisler N, Lukacs Z, Vinge L, et al.
Molecular genetics and metabolism, 2013, 110, 3, p. 287-289
LGMD2L with bone affection : overlapping phenotype of dominant and recessive ANO5-induced disease
Witting N, Duno M, Born AP, et al.
Muscle & Nerve, 2012, 46, 5, p. 829-830
Endocrine function in 97 patients with myotonic dystrophy type 1
Orngreen MC, Arlien-Soborg P, Duno M, et al.
Journal of neurology, 2012, 259, 5, p. 912-920
Deletion of exon 26 of the dystrophin gene is associated with a mild Becker muscular dystrophy phenotype
Witting N, Duno M, Vissing J
Acta myologica, 2011, 30, 3, p. 182-184
cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark
Duno M, Sveen ML, Schwartz M, et al.
European journal of human genetics, 2008, 16, 8, p. 935-940
Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations
Orngreen MC, Duno M, Ejstrup R, et al.
Annals of neurology, 2005, 57, 1, p. 60-66
Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method
Schwartz M, Duno M
Genetic testing, 2004, 8, 4, p. 361-367
