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Publications by Heinz Jungbluth

Aberrant Regulation of Epigenetic Modifiers Contributes to the Pathogenesis in Patients With Selenoprotein N ‐ Related Myopathies

Human Mutation
Genetics
2019English

Biochemical and Epigenetic Modifications Occur in Muscles of Patients With Selenoprotein N Related Congenital Myopathy

Biophysical Journal
Biophysics
2019English

Fetal Acetylcholine Receptor Inactivation Syndrome

Neurology: Neuroimmunology and NeuroInflammation
Neurology
2014English

240th ENMC Workshop: The Involvement of Skeletal Muscle Stem Cells in the Pathology of Muscular Dystrophies 25 – 27 January 2019, Hoofddorp, the Netherlands

Neuromuscular Disorders
Child HealthNeurologyPediatricsPerinatologyGenetics
2019English

Fatal Awake Malignant Hyperthermia Episodes in a Family With Malignant Hyperthermia Susceptibility: A Case Series

Canadian Journal of Anaesthesia
MedicineAnesthesiologyPain Medicine
2019English

GP230 Fetal Acetylcholine Receptor Inactivation Due to Maternal Myasthenia Gravis: An Underrecognised, Devastating but Potentially Preventable and Treatable Disorder

2019English

Central Core Disease

Orphanet Journal of Rare Diseases
MedicineGeneticsPharmacology
2007English

Functional Effects of Mutations Identified in Patients With Multiminicore Disease

IUBMB Life
BiochemistryGeneticsClinical BiochemistryCell BiologyMolecular Biology
2007English

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