Sibel A. Iseri-Ugur

Istanbul, Turkey

Last Updated: 09/26/2026

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Found 27 publications

Missense variants in PKAN: insights from a multi-patient genetic analysis.

Missense variants in PKAN: insights from a multi-patient genetic analysis.

Journal: Neurogenetics

Published: September 17, 2025

QSM-Based Evidence of Brain Iron Accumulation in THAP1 Dystonia with Biallelic Mutation.

QSM-Based Evidence of Brain Iron Accumulation in THAP1 Dystonia with Biallelic Mutation.

Journal: Movement disorders clinical practice

Published: August 05, 2025

XhetRel: a pipeline for X heterozygosity and relatedness analysis of sequencing data.

XhetRel: a pipeline for X heterozygosity and relatedness analysis of sequencing data.

Journal: Bioinformatics advances

Published: June 21, 2025

A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series.

A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series.

Journal: Annals of clinical and translational neurology

Published: March 13, 2025

Quantitative Iron Measurements in the Basal Ganglia of NBIA Patients Using QSM: Insights From a Tertiary Center.

Quantitative Iron Measurements in the Basal Ganglia of NBIA Patients Using QSM: Insights From a Tertiary Center.

Journal: Annals of clinical and translational neurology

Published: February 27, 2025

Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).

Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).

Journal: Human mutation

Published: July 14, 2023

Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring.

Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring.

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

Published: June 27, 2023

Targeted resequencing reveals high-level mosaicism for a novel frameshift variant in WDR45 associated with beta-propeller protein-associated neurodegeneration.

Targeted resequencing reveals high-level mosaicism for a novel frameshift variant in WDR45 associated with beta-propeller protein-associated neurodegeneration.

Journal: The International journal of neuroscience

Published: April 26, 2023

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Journal: medRxiv : the preprint server for health sciences

Published: March 03, 2023

Epilepsy or neurodevelopmental disorders are associated with homozygous and pathogenic ELP2 variation in three siblings.

Epilepsy or neurodevelopmental disorders are associated with homozygous and pathogenic ELP2 variation in three siblings.

Journal: Neurocase

Published: February 14, 2023

Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.

Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.

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

Published: November 10, 2022

An Extraordinary EEG Phenomenon Misdiagnosed as Nonconvulsive Status Epilepticus: Frequent Subclinical Periodic Discharges Terminated by Sudden Auditory Stimuli.

An Extraordinary EEG Phenomenon Misdiagnosed as Nonconvulsive Status Epilepticus: Frequent Subclinical Periodic Discharges Terminated by Sudden Auditory Stimuli.

Journal: Clinical EEG and neuroscience

Published: October 05, 2022

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Last Updated: 09/26/2026