Ozlem Y. Koken

Antalya, Turkey

Last Updated: 09/26/2026

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Found 13 publications

Effects of newborn screening and nusinersen on survival and functional outcomes in spinal muscular atrophy with two SMN2 copies: A nationwide multicentre real-world study from Turkey.

Effects of newborn screening and nusinersen on survival and functional outcomes in spinal muscular atrophy with two SMN2 copies: A nationwide multicentre real-world study from Turkey.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: March 15, 2026

Clinical and laboratory outcomes of ketogenic versus glycine-restricted diet in nonketotic hyperglycinemia: A comparative study.

Clinical and laboratory outcomes of ketogenic versus glycine-restricted diet in nonketotic hyperglycinemia: A comparative study.

Journal: Molecular genetics and metabolism

Published: January 04, 2026

Expandingthe Phenotypic Spectrum of PUS3 Deficiency: A p.Tyr71Cys Case Demonstrating a Stable, Nonprogressive Leukoencephalopathy Pattern.

Expandingthe Phenotypic Spectrum of PUS3 Deficiency: A p.Tyr71Cys Case Demonstrating a Stable, Nonprogressive Leukoencephalopathy Pattern.

Journal: Molecular syndromology

Published: December 11, 2025

Epilepsy and Neurocognitive Profile in Dystrophinopathies: Insights from Caregiver Perspectives.

Epilepsy and Neurocognitive Profile in Dystrophinopathies: Insights from Caregiver Perspectives.

Journal: Annals of Indian Academy of Neurology

Published: October 01, 2025

CAPOS and Beyond: ATP1A3 Variants in Pediatric Movement Disorders - Case Reports.

CAPOS and Beyond: ATP1A3 Variants in Pediatric Movement Disorders - Case Reports.

Journal: Molecular syndromology

Published: July 03, 2025

Self-Limited Epilepsy with Centrotemporal Spikes in Younger Ages: Worse but Real!

Self-Limited Epilepsy with Centrotemporal Spikes in Younger Ages: Worse but Real!

Journal: Annals of Indian Academy of Neurology

Published: May 16, 2025

Pelvic obliquity, trunk control, and motor function: an exploratory study in a non-ambulatory Duchenne muscular dystrophy cohort.

Pelvic obliquity, trunk control, and motor function: an exploratory study in a non-ambulatory Duchenne muscular dystrophy cohort.

Journal: Revista da Associacao Medica Brasileira (1992)

Published: July 30, 2024

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations.

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations.

Journal: Annals of clinical and translational neurology

Published: May 22, 2024

Neuromuscular disease genetics in under-represented populations: increasing data diversity.

Neuromuscular disease genetics in under-represented populations: increasing data diversity.

Journal: Brain : a journal of neurology

Published: May 22, 2023

High diagnostic yield with algorithmic molecular approach on hereditary neuropathies.

High diagnostic yield with algorithmic molecular approach on hereditary neuropathies.

Journal: Revista da Associacao Medica Brasileira (1992)

Published: August 30, 2022

Neurologic Manifestations of COVID 19 in Children: Prospective Study in a Single Center.

Neurologic Manifestations of COVID 19 in Children: Prospective Study in a Single Center.

Journal: Annals of Indian Academy of Neurology

Published: March 16, 2021

Utility of estimated glucose disposal rate for predicting metabolic syndrome in children and adolescents with type-1 diabetes.

Utility of estimated glucose disposal rate for predicting metabolic syndrome in children and adolescents with type-1 diabetes.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: January 08, 2020

Showing 1-12 of 13

Last Updated: 09/26/2026