Ayten Gulec

Kayseri, Turkey

Last Updated: 09/26/2026

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Found 19 publications

From Leukaemia to MOGAD, From Refractive Error to Dural Fistula: Torticollis as the Presenting Sign of Serious Disease in Children.

From Leukaemia to MOGAD, From Refractive Error to Dural Fistula: Torticollis as the Presenting Sign of Serious Disease in Children.

Journal: Journal of paediatrics and child health

Published: April 07, 2026

Corrigendum to "Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome" [Biochim. Biophys. Acta Mol. Basis Dis. 1872 (2026)/168184].

Corrigendum to "Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome" [Biochim. Biophys. Acta Mol. Basis Dis. 1872 (2026)/168184].

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: March 12, 2026

"Severe intellectual disability with cardiac and dermatologic involvement due to homozygous METTL23 frameshift mutation: a case report of two Turkish sisters".

"Severe intellectual disability with cardiac and dermatologic involvement due to homozygous METTL23 frameshift mutation: a case report of two Turkish sisters".

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: December 21, 2025

Neonatal-onset genetic epilepsies: Insights from a large multicentre cohort.

Neonatal-onset genetic epilepsies: Insights from a large multicentre cohort.

Journal: Seizure

Published: October 28, 2025

Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome.

Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: October 07, 2025

Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome.

Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: October 07, 2025

Acute Disseminated Encephalomyelitis in Children and Adolescents: A Multicenter Retrospective Study of Relapse and Outcome.

Acute Disseminated Encephalomyelitis in Children and Adolescents: A Multicenter Retrospective Study of Relapse and Outcome.

Journal: Journal of child neurology

Published: May 09, 2025

L-DOPA in diurnal fluctuating dystonia: two different clinical presentations, one treatment.

L-DOPA in diurnal fluctuating dystonia: two different clinical presentations, one treatment.

Journal: Neurogenetics

Published: March 25, 2025

Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families.

Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families.

Journal: Neurogenetics

Published: December 03, 2024

Molecular analysis of SMN2, NAIP, and GTF2H2 gene deletions and relationships with clinical subtypes of spinal muscular atrophy.

Molecular analysis of SMN2, NAIP, and GTF2H2 gene deletions and relationships with clinical subtypes of spinal muscular atrophy.

Journal: Journal of neurogenetics

Published: September 25, 2024

Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype.

Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype.

Journal: Neurogenetics

Published: August 27, 2024

The clinical presentation and genetic diagnosis of Tangier disease in the pediatric age group.

The clinical presentation and genetic diagnosis of Tangier disease in the pediatric age group.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: July 13, 2024

Showing 1-12 of 19

Last Updated: 09/26/2026