Doç. Dr. Gülten Öztürk

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

Seizure, 2026

DOI 10.1016/j.seizure.2026.04.028 PMID 42114232 Source : OpenAlex

Congenital myasthenic syndromes in Türkiye: genetic and clinical spectrum revisited in a nationwide pediatric cohort

Neuromuscular Disorders, 2026

DOI 10.1016/j.nmd.2026.107399 PMID 42727323 1 citation (OpenAlex) Source : OpenAlex

Extreme ambient temperatures and seizure outcomes in children with epilepsy: insights from a survey in Turkey

Epilepsy & Behavior, 2026

DOI 10.1016/j.yebeh.2026.110982 PMID 41797236 1 citation (OpenAlex) Source : OpenAlex

Comparison of Nusinersen Monotherapy Versus Combination Therapy With Nusinersen and Onasemnogene Abeparvovec in Spinal Muscular Atrophy Type 1 Patients With Two SMN2 Copies: A Multicenter Study From Türkiye

Muscle & Nerve, 2026

DOI 10.1002/mus.70191 PMID 41757676 Source : OpenAlex

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

European Journal of Paediatric Neurology, 2026

DOI 10.1016/j.ejpn.2026.08.003 PMID 42580234 Source : OpenAlex

Identification of Cerebrotendinous Xanthomatosis in High-Risk Children Using a Suspicion Index–Based Screening Strategy

Research Square, 2026

DOI 10.21203/rs.3.rs-10809714/v1 Texte intégral en libre accèsSource : OpenAlex

1.56P Timing of therapy in sma type 1: longitudinal clinical and real-world insights

Neuromuscular Disorders, 2026

DOI 10.1016/j.nmd.2026.106641 Source : OpenAlex

Personalized Management and Timing of Thymectomy in Juvenile Myasthenia Gravis: Insights from Routine Clinical Scale Use in a Single-Center Retrospective Cohort—A Case Series

Children, 2025

DOI 10.3390/children12101389 PMID 41153571 Texte intégral en libre accèsSource : OpenAlex

The acylcarnitine profile in patients with PKAN may mimic CPT1 deficiency.

Molecular genetics and metabolism, 2025

DOI 10.1016/j.ymgme.2025.109713 PMID 41475178 2 citations (Europe PMC) Source : ORCID

Does Time and Experience Matter in Pediatric Arterial Ischemic Stroke (AIS) Intervention in Patients with an Initial Clinical Presentation of Mild/Moderate Severity? Long-Term Follow-Up Experience of a Single Tertiary Clinic

Children, 2025

DOI 10.3390/children12040407 PMID 40310024 Texte intégral en libre accèsSource : ORCID

Unclear symptoms, early diagnosis and perfect outcome: a case diagnosed as sepiapterin reductase deficiency hidden behind vitamin B12 deficiency

Journal of pediatric endocrinology & metabolism : JPEM, 2025

DOI 10.1515/jpem-2024-0515 PMID 39903824 1 citation (Europe PMC) Source : Europe PMC

Acute flaccid myelitis in Europe between 2016 and 2023: indicating the need for better registration

Eurosurveillance, 2025

DOI 10.2807/1560-7917.es.2025.30.21.2400579 PMID 40444374 5 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

Nusinersen for children with type I spinal muscular atrophy: 4 years’ clinical experience in Turkish cohort

Frontiers in Neurology, 2025

DOI 10.3389/fneur.2025.1541507 PMID 40212617 7 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

Genetic and clinical spectrum of PIEZO2-related disorders: insights from a multicenter study of 26 patients

Neuromuscular Disorders, 2025

DOI 10.1016/j.nmd.2025.105423 PMID 40674812 4 citations (OpenAlex) Source : OpenAlex

What are The Barriers to Initiating or Sustaining The Ketogenic Diet in Pediatric Patients; Single Centre Experience

Çocuk Dergisi / Journal of Child, 2025

DOI 10.26650/jchild.2025.1722249 Texte intégral en libre accèsSource : OpenAlex

Auditory Evaluation of Three Most Commonly Used Anti-Seizure Medications VPA, CBZ and LEV in School-Aged Children: A Single Center Prospective Study with Extensive Auditory Test Design in a Small Epileptic Cohor

Southern Clinics of Istanbul Eurasia, 2025

DOI 10.14744/scie.2025.54533 Texte intégral en libre accèsSource : OpenAlex

BASIC CONCEPTS AND APPROACHES

Turkiye Klinikleri eBooks, 2025

DOI 10.5336/978-625-395-803-9_p353 Source : OpenAlex

Comparison of Combination Therapy with Nusinersen and Onasemnogene Abeparvovec Versus Nusinersen Monotherapy in Spinal Muscular Atrophy Patients: A Multicenter Retrospective Study

Kocaeli Üniversitesi - AVESİS, 2025

Source : OpenAlex

Unveiling the Respiratory Muscle Strength in Duchenne Muscular Dystrophy: The Impact of Nutrition and Thoracic Deformities, Beyond Spirometry

Children, 2024

DOI 10.3390/children11080994 PMID 39201929 Texte intégral en libre accèsSource : OpenAlex

Can Sniff Nasal Inspiratory Pressure be a guide in detecting of sleep-disordered breathing in children with Duchenne Muscular Dystrophy?

Sleep Medicine, 2024

DOI 10.1016/j.sleep.2024.10.004 PMID 39531786 4 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study

The Cerebellum, 2024

DOI 10.1007/s12311-024-01690-1 PMID 38622473 9 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

OP-104 Utilizing lactate dehydrogenase and aspartate transaminase as diagnostic biomarkers in GM2 gangliosidoses

BMJ Paediatrics Open, 2024

DOI 10.1136/bmjpo-2024-epac.103 Texte intégral en libre accèsSource : OpenAlex

Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study

Neuropediatrics, 2023

DOI 10.1055/a-2034-8528 PMID 36787800 2 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

Depression, anxiety, and sleep quality of caregivers of children with spinal muscular atrophy

Pediatric pulmonology, 2023

DOI 10.1002/ppul.26379 PMID 36856268 8 citations (Europe PMC) Texte intégral en libre accèsSource : Europe PMC

Comparison of Demographic, Respiratory, and Polysomnography-Capnography Results of Patients with Duchenne Muscular Dystrophy

European Respiratory Journal, 2023

DOI 10.1183/13993003.congress-2023.pa2107 Source : OpenAlex

Vincristine-Induced Peripheral Neuropathy in Children With Malignancy and the Effect of Missed Doses on Treatment Success

Cureus, 2023

DOI 10.7759/cureus.46063 PMID 37771936 5 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

Management of acute metabolic crisis in TANGO2 deficiency: a case report

Journal of Pediatric Endocrinology and Metabolism, 2023

DOI 10.1515/jpem-2023-0172 PMID 37381587 12 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

Retracted: Clinical and genetic evaluations of rare childhood epilepsies in Turkey's national cohort

Epileptic Disorders, 2023

DOI 10.1002/epd2.20150 PMID 37584621 Texte intégral en libre accèsSource : OpenAlex

Breastfeeding and Motor Development in Preterm and Term Infants

Springer eBooks, 2023

DOI 10.1007/978-3-031-33278-4_23 Source : OpenAlex

Breastfeeding and Metabolic Programming

Kocaeli Üniversitesi - AVESİS, 2023

Source : OpenAlex

Evaluation of Pediatric Cases With Gullian Barre Syndrome: A National Multicenter Study.

Kocaeli Üniversitesi - AVESİS, 2022

Source : OpenAlex

Evaluation Of Pediatric Cases With Gullian Barre Syndrome: A National Multicenter Study

Bursa Uludag University - AVESIS, 2022

Source : OpenAlex

Pediatrik Nöroloji: Algoritmalar ve İlaç Rehberi

Akademisyen Kitabevi eBooks, 2022

DOI 10.37609/akya.2035 Texte intégral en libre accèsSource : OpenAlex

Depression, anxiety and sleep quality of caregivers of children with spinal muscular atrophy

European Respiratory Journal, 2022

DOI 10.1183/13993003.congress-2022.899 1 citation (OpenAlex) Source : OpenAlex

Respiratory outcome of spinal muscular atrophy type 1 patients treated with nusinersen

Pediatrics International, 2022

DOI 10.1111/ped.15175 PMID 35522792 18 citations (OpenAlex) Source : OpenAlex

The outcome of two SMA cases treated with nusinersen at seven hours and at three days of life: the earliest ever

Neuromuscular Disorders, 2022

DOI 10.1016/j.nmd.2022.06.002 PMID 35752576 3 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

Comparison of telerehabilitation versus home-based video exercise in patients with Duchenne muscular dystrophy: a single-blind randomized study

Acta Neurologica Belgica, 2022

DOI 10.1007/s13760-022-01975-4 PMID 35616780 30 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

Effect of Nusinersen treatment on motor functions in children and adolescents with spinal muscular atrophy who gave a break to physiotherapy during COVID-19 pandemic

Turkish Journal of Physical Medicine and Rehabilitation, 2022

DOI 10.5606/tftrd.2022.9105 PMID 35949963 1 citation (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

Permanent impairment of language in an adolescent case of autoimmune encephalitis

Nöro Psikiyatri Arşivi, 2022

DOI 10.29399/npa.28018 PMID 36514514 Texte intégral en libre accèsSource : OpenAlex

Validity and Reliability of Quick Motor Function Test in Ambulatory Duchenne Muscular Dystrophy Patients

Journal of Pediatric Neurology, 2022

DOI 10.1055/s-0042-1743434 Texte intégral en libre accèsSource : OpenAlex

A case report of adolescent anti-NMDAR encephalitis with depressive symptoms (eng)

Journal of Clinical Psychiatry, 2022

DOI 10.5505/kpd.2022.83436 Texte intégral en libre accèsSource : OpenAlex

Stress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) Presenting with Torticollis Attacks

Annals of Indian Academy of Neurology, 2021

DOI 10.4103/aian.aian_314_21 PMID 35693655 8 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

The Burden of Primary Caregivers of Spinal Muscular Atrophy Patients and Their Needs

Turkish archives of pediatrics, 2021

DOI 10.5152/turkarchpediatr.2021.20117 PMID 35005732 13 citations (Europe PMC) Texte intégral en libre accèsSource : Europe PMC

The Effects of Neurodevelopmental Therapy on Feeding and Swallowing Activities in Children with Cerebral Palsy

Dysphagia, 2021

DOI 10.1007/s00455-021-10329-w PMID 34173063 33 citations (OpenAlex) Source : OpenAlex

Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous population

International Journal of Neuroscience, 2021

DOI 10.1080/00207454.2021.1967349 PMID 34380004 6 citations (OpenAlex) Source : OpenAlex

Neurodevelopmental Findings and Epilepsy in Malformations of Cortical Development

Turkish Archives of Pediatrics, 2021

DOI 10.5152/turkarchpediatr.2021.20148 PMID 35005731 4 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

CLB add-on treatment in patients with epileptic encephalopathy: a single center experience with long-term follow-up

Acta Neurologica Belgica, 2021

DOI 10.1007/s13760-021-01606-4 PMID 33782854 2 citations (OpenAlex) Source : OpenAlex

How do presentation age and CSF opening pressure level affect long-term prognosis of pseudotumor cerebri syndrome in children? Experience of a single tertiary clinic

Child s Nervous System, 2021

DOI 10.1007/s00381-021-05365-8 PMID 34568960 2 citations (OpenAlex) Source : OpenAlex

Acute flaccid myelitis outbreak through 2016–2018: A multicenter experience from Turkey

European Journal of Paediatric Neurology, 2020

DOI 10.1016/j.ejpn.2020.10.011 PMID 33218883 2 citations (Europe PMC) Source : OpenAlex

Acute flaccid myelitis outbreak through 2016-2018-multi-centre experience from Turkey

Kocaeli Üniversitesi - AVESİS, 2019

Source : OpenAlex