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Publications by Denise Kreuzmann

Aberrant O-GlcNAcylation Disrupts GNE Enzyme Activity in GNE Myopathy

FEBS Journal
BiochemistryCell BiologyMolecular Biology
2016English

Increased Polysialylation of the Neural Cell Adhesion Molecule in a Transgenic Mouse Model of Sialuria

ChemBioChem
Organic ChemistryBiochemistryMolecular MedicineMolecular Biology
2017English

Related publications

GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges

Neurotherapeutics
NeurologyPharmacology
2018English

Non-Specific Accumulation of Glycosphingolipids in GNE Myopathy

Journal of Inherited Metabolic Disease
Genetics
2013English

Clinical and Genetic Characteristics of Nonaka Myopathy (GNE-myopathy) in Russian Patients

Nervno-Myshechnye Bolezni
Neurology
2019English

GNE Myopathy in Turkish Sisters With a Novel Homozygous Mutation

Case Reports in Neurological Medicine
2016English

Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy

Journal of Clinical Neuromuscular Disease
MedicineNeurology
2017English

Development and Preliminary Evidence of the Psychometric Properties of the GNE Myopathy Functional Activity Scale

Journal of Comparative Effectiveness Research
Health Policy
2018English

Novel GNE Mutations in Two Phenotypically Distinct HIBM2 Patients

Neuromuscular Disorders
Child HealthNeurologyPediatricsPerinatologyGenetics
2011English

620. Functional Analysis of GNE Expression Plasmids in Immortalized Human Myoblasts

Molecular Therapy
Molecular MedicineMolecular BiologyPharmacologyMedicineGeneticsDrug Discovery
2013English

GNE Is Involved in the Early Development of Skeletal and Cardiac Muscle

PLoS ONE
Multidisciplinary
2011English

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