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Publications by Yaprak Secil

GNE Myopathy in Turkish Sisters With a Novel Homozygous Mutation

Case Reports in Neurological Medicine
2016English

Posterior Reversible Encephalopathy Syndrome Triggerred by Alcohol Withdrawal

Turk Psikiyatri Dergisi
MedicinePsychiatryMental Health
2017English

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Aberrant O-GlcNAcylation Disrupts GNE Enzyme Activity in GNE Myopathy

FEBS Journal
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2016English

GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges

Neurotherapeutics
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2018English

Novel Homozygous GBA2 Mutation in a Patient With Complicated Spastic Paraplegia

Clinical Neurology and Neurosurgery
MedicineSurgeryNeurology
2018English

A Novel De Novo Dominant Mutation inISCUassociated With Mitochondrial Myopathy

Journal of Medical Genetics
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2017English

Non-Specific Accumulation of Glycosphingolipids in GNE Myopathy

Journal of Inherited Metabolic Disease
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2013English

Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy

Journal of Clinical Neuromuscular Disease
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2017English

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

Nervno-Myshechnye Bolezni
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2019English

Autosomal Recessive Woolly Hair With Hypotrichosis Caused by a Novel Homozygous Mutation in theP2RY5gene

Experimental Dermatology
BiochemistryDermatologyMolecular Biology
2009English

Myopathy in a 20-Year-Old Female Patient With D4st-1 Deficient Ehlers-Danlos Syndrome Due to a Homozygous CHST14 Mutation

American Journal of Medical Genetics, Part A
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2012English

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