[PDF][PDF] Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage
…, A Begemann, S Unger, S Güngör, S Hiz… - The American Journal of …, 2023 - cell.com
The blood-brain barrier (BBB) is an essential gatekeeper for the central nervous system and
incidence of neurodevelopmental disorders (NDDs) is higher in infants with a history of …
incidence of neurodevelopmental disorders (NDDs) is higher in infants with a history of …
Sleep structure in children with attention-deficit/hyperactivity disorder
G Akinci, I Oztura, S Hiz, O Akdogan… - Journal of child …, 2015 - journals.sagepub.com
The authors evaluated basic sleep architecture and non–rapid eye movement (NREM) sleep
alterations in drug-naïve attention-deficit/hyperactivity disorder (ADHD) children without …
alterations in drug-naïve attention-deficit/hyperactivity disorder (ADHD) children without …
[PDF][PDF] Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
Spermatogenesis-associated 5 like 1 (SPATA5L1) represents an orphan gene encoding a
protein of unknown function. We report 28 bi-allelic variants in SPATA5L1 associated with …
protein of unknown function. We report 28 bi-allelic variants in SPATA5L1 associated with …
[HTML][HTML] Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey
…, G Akinci, A Ünalp, G Aktan, E Bayram, S Hiz… - Acta …, 2018 - ncbi.nlm.nih.gov
The aim of this study is to analyze the epidemiology of the clinical and genetic features of
childhood-onset limb-girdle muscular dystrophies (LGMD) in the Aegean part of Turkey. In total …
childhood-onset limb-girdle muscular dystrophies (LGMD) in the Aegean part of Turkey. In total …
[HTML][HTML] Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects
Background Goltz syndrome (GS) is a X-linked disorder defined by defects of mesodermal-
and ectodermal-derived structures and caused by PORCN mutations. Features include …
and ectodermal-derived structures and caused by PORCN mutations. Features include …
[HTML][HTML] Confirmation of TACO1 as a Leigh syndrome disease gene in two additional families
Background: In 2009, we identified TACO1 as a novel mitochondrial disease gene in a
single family, however no second family has been described to confirm the role of TACO1 in …
single family, however no second family has been described to confirm the role of TACO1 in …
COL4A1-related autosomal recessive encephalopathy in 2 Turkish children
Objective This study presents the neurologic phenotypes of 2 brothers with a novel
homozygous COL4A1 mutation that was identified in a large Turkish consanguineous cohort of …
homozygous COL4A1 mutation that was identified in a large Turkish consanguineous cohort of …
Psychomotor retardation caused by a defective thyroid hormone transporter: report of two families with different MCT8 mutations
…, A Van Mullem, REA Van Herebeek, S Hız… - Hormone Research in …, 2014 - karger.com
Background/Aims: Monocarboxylate transporter 8 (MCT8) is essential for thyroid hormone (TH)
transport in the brain. Mutations in MCT8 are associated with the Allan-Herndon-Dudley …
transport in the brain. Mutations in MCT8 are associated with the Allan-Herndon-Dudley …
The complex genetic landscape of hereditary ataxias in Turkey and implications in clinical practice
…, MO Çorbalı, H Tireli, G Akdal, U Yiş, S Hız… - Movement …, 2021 - Wiley Online Library
Background The genetic and epidemiological features of hereditary ataxias have been
reported in several populations; however, Turkey is still unexplored. Due to high consanguinity, …
reported in several populations; however, Turkey is still unexplored. Due to high consanguinity, …
Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy
Background Biallelic loss‐of‐function NDUFA12 variants have hitherto been linked to
mitochondrial complex I deficiency presenting with heterogeneous clinical and radiological …
mitochondrial complex I deficiency presenting with heterogeneous clinical and radiological …