Mustafa Komur
Mersin, Turkey
Last Updated: 09/26/2026
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Found 53 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.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: March 15, 2026
Urine protein/osmolality and creatinine/osmolality ratios for assessing proteinuria and motor function in children with spinal muscular atrophy.
Journal: Brain & development
Published: February 09, 2026
From Misdiagnosis to Treatment: Genetic Landscape and Genotype-Phenotype Correlations of Hyperekplexia.
Journal: Pediatric neurology
Published: January 22, 2026
The genetic landscape of childhood-onset dystonia in a nationwide Turkish cohort: Clinical spectrum, molecular diagnostics, and therapeutic implications.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: June 30, 2025
Genetic and clinical spectrum of PIEZO2-related disorders: insights from a multicenter study of 26 patients.
Journal: Neuromuscular disorders : NMD
Published: March 02, 2025
Nusinersen for children with type I spinal muscular atrophy: 4 years' clinical experience in Turkish cohort.
Journal: Frontiers in neurology
Published: December 07, 2024
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.
Journal: Cerebellum (London, England)
Published: March 27, 2024
Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children.
Journal: Journal of neuromuscular diseases
Published: June 25, 2023
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
Pediatric-Onset Chronic Inflammatory Demyelinating Polyneuropathy: A Multicenter Study.
Journal: Pediatric neurology
Published: December 26, 2022
Treatment Dilemma in Juvenile Huntington's Patient Presenting with Psychiatric Symptoms.
Journal: Noro psikiyatri arsivi
Published: November 02, 2021
Last Updated: 09/26/2026