Rojan Ipek

Dicle, Turkey

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 20 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

Misophonia, Autistic Traits, and Obsessive-Compulsive Symptoms in Migraine: A Controlled Comparative Study.

Misophonia, Autistic Traits, and Obsessive-Compulsive Symptoms in Migraine: A Controlled Comparative Study.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: February 15, 2026

Expanding the Phenotypic Spectrum of NDUFS6-Related Disease: From Neonatal Mitochondrial Encephalopathy to Childhood-Onset Axonal Neuropathy.

Expanding the Phenotypic Spectrum of NDUFS6-Related Disease: From Neonatal Mitochondrial Encephalopathy to Childhood-Onset Axonal Neuropathy.

Journal: International journal of molecular sciences

Published: January 09, 2026

Genotypic and Phenotypic Characterization of Axonal Charcot-Marie-Tooth Disease in Childhood: Identification of One Novel and Four Known Mutations.

Genotypic and Phenotypic Characterization of Axonal Charcot-Marie-Tooth Disease in Childhood: Identification of One Novel and Four Known Mutations.

Journal: Genes

Published: June 27, 2025

The fourth family in the world with a novel variant in the ATP5MK gene: four siblings with complex V (ATP synthase) deficiency.

The fourth family in the world with a novel variant in the ATP5MK gene: four siblings with complex V (ATP synthase) deficiency.

Journal: Neurogenetics

Published: December 16, 2024

Evaluation of posterior ocular structures in pediatric migraine patients with and without aura.

Evaluation of posterior ocular structures in pediatric migraine patients with and without aura.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: October 18, 2024

Could headache in children be a biomarker for dyslipidemia?

Could headache in children be a biomarker for dyslipidemia?

Journal: Acta neurologica Belgica

Published: March 31, 2024

Alterations in the tear film and ocular surface in pediatric migraine patients.

Alterations in the tear film and ocular surface in pediatric migraine patients.

Journal: Indian journal of ophthalmology

Published: September 24, 2023

A Rare Case of Rotavirus-related Acute Benign Myositis.

A Rare Case of Rotavirus-related Acute Benign Myositis.

Journal: The Pediatric infectious disease journal

Published: July 05, 2023

COL12A1 Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy.

COL12A1 Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy.

Journal: Molecular syndromology

Published: June 29, 2023

Two Sibling Cases of Spastic Paraplegia-45 with a Novel Pathogenic Variant in NT5C2 Gene: Concomitant RYR1 Gene in One Sibling.

Two Sibling Cases of Spastic Paraplegia-45 with a Novel Pathogenic Variant in NT5C2 Gene: Concomitant RYR1 Gene in One Sibling.

Journal: Molecular syndromology

Published: January 02, 2023

Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.

Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.

Journal: Nature communications

Published: November 14, 2022

Showing 1-12 of 20

Last Updated: 09/26/2026