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Publications by Anna Kostera-Pruszczyk
Bi-Allelic ADPRHL2 Mutations Cause Neurodegeneration With Developmental Delay, Ataxia, and Axonal Neuropathy
American Journal of Human Genetics
Genetics
Correction To: Eight Years After an International Workshop on Myotonic Dystrophy Patient Registries: Case Study of a Global Collaboration for a Rare Disease
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences
Journal of Neuromuscular Diseases
Neurology
Propafenone Is Not Effective for Severe Ventricular Arrhythmias in Andersen-Tawil Syndrome
Archives of Medical Science
Medicine
A Novel Homozygous Mutation in the WNK1/HSN2 Gene Causing Hereditary Sensory Neuropathy Type 2.
Acta Biochimica Polonica
Biochemistry
Genetics
Molecular Biology
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Spatial Organization and Signal Transduction at Intercellular Junctions
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Talins and Kindlins: Partners in Integrin-Mediated Adhesion
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Molecular Control of Endothelial Cell Behaviour During Blood Vessel Morphogenesis
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Multidimensional Proteomics for Cell Biology
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DNA Methylation Pathways and Their Crosstalk With Histone Methylation
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Transcriptional Integration of Metabolism by the Nuclear Sterol-Activated Receptors LXR and FXR
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Tail-Anchored Membrane Protein Insertion Into the Endoplasmic Reticulum
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Dynamin, a Membrane-Remodelling GTPase
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