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McArdle disease: a clinical review

Journal of neurology, neurosurgery and psychiatry, 2010-11, Vol.81 (11), p.1182-1188

2010

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Successful treatment with dupilumab of an adult with Netherton syndrome

Clinical and experimental dermatology, 2020-10, Vol.45 (7), p.915-917

2020

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Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy

Journal of medical genetics, 2010-10, Vol.47 (10), p.665-669

2010

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First case of cystic fibrosis in Greenland – diagnosed by neonatal screening

Journal of cystic fibrosis, 2020-05, Vol.19 (3), p.e14-e15

2020

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Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis‐myalgia syndrome

Acta neurologica Scandinavica, 2018-05, Vol.137 (5), p.452-461

2018

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Osteogenesis imperfecta and the teeth, eyes, and ears—a study of non-skeletal phenotypes in adults

Osteoporosis international, 2018-12, Vol.29 (12), p.2781-2789

2018

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Mitochondrial dysfunction and risk of cancer

British journal of cancer, 2015-03, Vol.112 (6), p.1134-1140

2015

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Skeletal phenotypes in adult patients with osteogenesis imperfecta—correlations with COL1A1/COL1A2 genotype and collagen structure

Osteoporosis international, 2016-11, Vol.27 (11), p.3331-3341

2016

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Characteristics of patients with familial Mediterranean fever in Denmark: a retrospective nationwide register-based cohort study

Scandinavian journal of rheumatology, 2020-11, Vol.49 (6), p.489-497

2020

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Quality improvement in clinical NGS through a peer-driven Nordic collaboration

EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, Vol.27, p.1622

2019

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Endocrine function in 97 patients with myotonic dystrophy type 1

Journal of neurology, 2012-05, Vol.259 (5), p.912-920

2012

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Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2

Neuromuscular disorders : NMD, 2013-01, Vol.23 (1), p.25-28

2013

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Ocular, bulbar, limb, and cardiopulmonary involvement in oculopharyngeal muscular dystrophy

Acta neurologica Scandinavica, 2014-08, Vol.130 (2), p.125-130

2014

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Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort

Spinal cord, 2014-01, Vol.52 (1), p.77-79

2014

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Individual pharmacokinetic variation leads to underdosing of ciprofloxacin in some cystic fibrosis patients

Pediatric pulmonology, 2017-03, Vol.52 (3), p.319-323

2017

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P.17.17 McArdle disease with pronounced axial myopathy

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.831-831

2013

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A new mutation of the fukutin gene causing late-onset limb girdle muscular dystrophy

Neuromuscular disorders : NMD, 2013-07, Vol.23 (7), p.562-567

2013

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Risk of cancer in relatives of patients with myotonic dystrophy: a population-based cohort study

European journal of neurology, 2014-09, Vol.21 (9), p.1192-1197

2014

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G.P.80 Non-sense mutation in exon two of the dystrophin gene results in mild Becker muscular dystrophy with generalized muscle hypertrophy

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.836-836

2012

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O.22 Dominant inheritance of limb girdle muscular dystrophy type 2A

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.750-750

2011

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G.P.115 Recurrent myoglobinuria and deranged acyl-carnitines due to mutation of the COII gene of mtDNA

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.890-890

2012

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Muscle regeneration in mitochondrial myopathies

Mitochondrion, 2013-03, Vol.13 (2), p.63-70

2013

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116 Pharmacokinetic variability of ciprofloxacin in cystic fibrosis – is CYP3A4 involved?

Journal of cystic fibrosis, 2015-06, Vol.14, p.S86-S86

2015

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Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency

Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.235-239

2009

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Molecular Dissection of Interactions between Rad51 and Members of the Recombination-Repair Group

Molecular and Cellular Biology, 2001-02, Vol.21 (3), p.966-976

2001

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McArdle disease: a clinical review

Successful treatment with dupilumab of an adult with Netherton syndrome

Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy

First case of cystic fibrosis in Greenland – diagnosed by neonatal screening

Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis‐myalgia syndrome

Osteogenesis imperfecta and the teeth, eyes, and ears—a study of non-skeletal phenotypes in adults

Mitochondrial dysfunction and risk of cancer

Skeletal phenotypes in adult patients with osteogenesis imperfecta—correlations with COL1A1/COL1A2 genotype and collagen structure

Characteristics of patients with familial Mediterranean fever in Denmark: a retrospective nationwide register-based cohort study

Quality improvement in clinical NGS through a peer-driven Nordic collaboration

Endocrine function in 97 patients with myotonic dystrophy type 1

Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2

Ocular, bulbar, limb, and cardiopulmonary involvement in oculopharyngeal muscular dystrophy

Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort

Individual pharmacokinetic variation leads to underdosing of ciprofloxacin in some cystic fibrosis patients

P.17.17 McArdle disease with pronounced axial myopathy

A new mutation of the fukutin gene causing late-onset limb girdle muscular dystrophy

Risk of cancer in relatives of patients with myotonic dystrophy: a population-based cohort study

G.P.80 Non-sense mutation in exon two of the dystrophin gene results in mild Becker muscular dystrophy with generalized muscle hypertrophy

O.22 Dominant inheritance of limb girdle muscular dystrophy type 2A

G.P.115 Recurrent myoglobinuria and deranged acyl-carnitines due to mutation of the COII gene of mtDNA

Muscle regeneration in mitochondrial myopathies

116 Pharmacokinetic variability of ciprofloxacin in cystic fibrosis – is CYP3A4 involved?

Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency

Molecular Dissection of Interactions between Rad51 and Members of the Recombination-Repair Group

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