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Publications by Mehmet Celebisoy

GNE Myopathy in Turkish Sisters With a Novel Homozygous Mutation

Case Reports in Neurological Medicine

English

Related publications

Aberrant O-GlcNAcylation Disrupts GNE Enzyme Activity in GNE Myopathy

Molecular Biology

English

GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges

Neurotherapeutics

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Novel Homozygous GBA2 Mutation in a Patient With Complicated Spastic Paraplegia

Clinical Neurology and Neurosurgery

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A Novel De Novo Dominant Mutation inISCUassociated With Mitochondrial Myopathy

Journal of Medical Genetics

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Non-Specific Accumulation of Glycosphingolipids in GNE Myopathy

Journal of Inherited Metabolic Disease

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Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy

Journal of Clinical Neuromuscular Disease

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

Nervno-Myshechnye Bolezni

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

Experimental Dermatology

Molecular Biology

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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

English