Zuhal Yapici

Istanbul, Turkey

Last Updated: 09/26/2026

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Found 49 publications

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

Very late-onset MPAN presenting with rapid cognitive deterioration.

Very late-onset MPAN presenting with rapid cognitive deterioration.

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

Published: August 03, 2025

Carrier Frequency of Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders in a Middle Eastern Clinical Cohort Based on Retrospective Genetic Testing Data.

Carrier Frequency of Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders in a Middle Eastern Clinical Cohort Based on Retrospective Genetic Testing Data.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: May 23, 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

Lack of SPNS1 results in accumulation of lysolipids and lysosomal storage disease in mouse models.

Lack of SPNS1 results in accumulation of lysolipids and lysosomal storage disease in mouse models.

Journal: JCI insight

Published: September 05, 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

Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity.

Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity.

Journal: Genes & genomics

Published: August 03, 2022

Two cases with mitochondrial membrane protein-associated neurodegeneration: genetic features and long-term clinical follow-up.

Two cases with mitochondrial membrane protein-associated neurodegeneration: genetic features and long-term clinical follow-up.

Journal: Neurocase

Published: February 21, 2022

Adjunctive everolimus therapy for tuberous sclerosis complex-associated refractory seizures: Results from the postextension phase of EXIST-3.

Adjunctive everolimus therapy for tuberous sclerosis complex-associated refractory seizures: Results from the postextension phase of EXIST-3.

Journal: Epilepsia

Published: July 30, 2021

A case report of sudden-onset auditory neuropathy spectrum disorder associated with Brown-Vialetto-Van Laere syndrome (riboflavin transporter deficiency).

A case report of sudden-onset auditory neuropathy spectrum disorder associated with Brown-Vialetto-Van Laere syndrome (riboflavin transporter deficiency).

Journal: International journal of audiology

Published: May 13, 2021

Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL): A Case With Long-term Follow-up.

Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL): A Case With Long-term Follow-up.

Journal: The neurologist

Published: September 14, 2020

Immune alterations in subacute sclerosing panencephalitis reflect an incompetent response to eliminate the measles virus.

Immune alterations in subacute sclerosing panencephalitis reflect an incompetent response to eliminate the measles virus.

Journal: PloS one

Published: August 11, 2020

Showing 1-12 of 49

Last Updated: 09/26/2026