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Hydroxylated long-chain acylcarnitines are biomarkers of mitochondrial myopathy

The journal of clinical endocrinology and metabolism, 2019-12, Vol.104 (12), p.5968-5976

2019

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Muscle fat replacement and contractility in patients with skeletal muscle sodium channel disorders

Scientific reports, 2023-02, Vol.13 (1), p.2538-2538, Article 2538

2023

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Novel truncating variants in FGD1 detected in two Danish families with Aarskog–Scott syndrome and myopathic features

American journal of medical genetics. Part A, 2022-07, Vol.188 (7), p.2251-2257

2022

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Myopathy can be a key phenotype of membrin (GOSR2) deficiency

Human mutation, 2021-09, Vol.42 (9), p.1101-1106

2021

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Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy

Neuromuscular disorders : NMD, 2023-07, Vol.33 (7), p.539-545

2023

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High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1

Genes, 2022-05, Vol.13 (6), p.970

2022

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Prevalence and Genetics of Leber Hereditary Optic Neuropathy in the Danish Population

Investigative ophthalmology & visual science, 2016-03, Vol.57 (3), p.1370-1375

2016

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Palbociclib in combination with simvastatin induce severe rhabdomyolysis: a case report

BMC neurology, 2019-10, Vol.19 (1), p.247-247, Article 247

2019

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Mutation Load of Single, Large-Scale Deletions of mtDNA in Mitotic and Postmitotic Tissues

Frontiers in genetics, 2020-10, Vol.11, p.547638-547638

2020

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Acetaminophen treatment in children and adults with spinal muscular atrophy: a lower tolerance and higher risk of hepatotoxicity

Neuromuscular disorders : NMD, 2024-01, Vol.34, p.9-18

2024

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Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E

Neurology, 2015-04, Vol.84 (17), p.1772-1781

2015

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Expanding the Spectrum of Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures (CONDSIAS)

Cerebellum (London, England), 2024-04, Vol.23 (2), p.861-871

2024

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Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD)

Journal of the neurological sciences, 2020-08, Vol.415, p.116897-116897, Article 116897

2020

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Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants

Journal of neurology, 2019-03, Vol.266 (3), p.735-744

2019

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Cardiac Involvement in Women With Pathogenic Dystrophin Gene Variants

Frontiers in neurology, 2021-07, Vol.12, p.707838-707838

2021

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Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants

Frontiers in neurology, 2021-09, Vol.12, p.707837-707837

2021

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DNA methylation signature classification of rare disorders using publicly available methylation data

Clinical genetics, 2023-06, Vol.103 (6), p.688-692

2023

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

European journal of medical genetics, 2019-01, Vol.62 (1), p.1-8

2019

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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

Genes, 2020-08, Vol.11 (8), p.936

2020

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Increased risk of sudden death in untreated primary carnitine deficiency

Journal of inherited metabolic disease, 2020-03, Vol.43 (2), p.290-296

2020

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

Journal of bone and mineral research, 2017-10, Vol.32 (10), p.2041-2048

2017

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A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course

European journal of human genetics : EJHG, 2018-10, Vol.26 (10), p.1512-1520

2018

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Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia

Calcified tissue international, 2019-12, Vol.105 (6), p.681-686

2019

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Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption

PloS one, 2013-09, Vol.8 (9), p.e74601-e74601

2013

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Hydroxylated long-chain acylcarnitines are biomarkers of mitochondrial myopathy

Muscle fat replacement and contractility in patients with skeletal muscle sodium channel disorders

Novel truncating variants in FGD1 detected in two Danish families with Aarskog–Scott syndrome and myopathic features

Myopathy can be a key phenotype of membrin (GOSR2) deficiency

Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy

High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1

Prevalence and Genetics of Leber Hereditary Optic Neuropathy in the Danish Population

Palbociclib in combination with simvastatin induce severe rhabdomyolysis: a case report

Mutation Load of Single, Large-Scale Deletions of mtDNA in Mitotic and Postmitotic Tissues

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome

Acetaminophen treatment in children and adults with spinal muscular atrophy: a lower tolerance and higher risk of hepatotoxicity

Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E

Expanding the Spectrum of Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures (CONDSIAS)

Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD)

Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants

Cardiac Involvement in Women With Pathogenic Dystrophin Gene Variants

Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants

DNA methylation signature classification of rare disorders using publicly available methylation data

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

Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1

Increased risk of sudden death in untreated primary carnitine deficiency

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

A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course

Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia

Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption

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