Bilimsel çalışmalar

Doç. Dr. Gülten Öztürk

50 yayın. Her yayının yanında bilginin kaynağı yazar.

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

    Seizure, 2026

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

  2. 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 atıf (OpenAlex) Kaynak: OpenAlex

  3. 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 atıf (OpenAlex) Kaynak: OpenAlex

  4. 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 Kaynak: OpenAlex

  5. 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 Kaynak: OpenAlex

  6. 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 Açık erişimli tam metinKaynak: OpenAlex

  7. 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 Kaynak: OpenAlex

  8. 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 Açık erişimli tam metinKaynak: OpenAlex

  9. 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 atıf (Europe PMC) Kaynak: ORCID

  10. 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 Açık erişimli tam metinKaynak: ORCID

  11. 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 atıf (Europe PMC) Kaynak: Europe PMC

  12. 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 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  13. 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 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  14. 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 atıf (OpenAlex) Kaynak: OpenAlex

  15. 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 Açık erişimli tam metinKaynak: OpenAlex

  16. 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 Açık erişimli tam metinKaynak: OpenAlex

  17. BASIC CONCEPTS AND APPROACHES

    Turkiye Klinikleri eBooks, 2025

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

  18. 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

    Kaynak: OpenAlex

  19. 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 Açık erişimli tam metinKaynak: OpenAlex

  20. 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 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  21. 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 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  22. 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 Açık erişimli tam metinKaynak: OpenAlex

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

    Neuropediatrics, 2023

    DOI 10.1055/a-2034-8528 PMID 36787800 2 atıf (Europe PMC) Açık erişimli tam metinKaynak: OpenAlex

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

    Pediatric pulmonology, 2023

    DOI 10.1002/ppul.26379 PMID 36856268 8 atıf (Europe PMC) Açık erişimli tam metinKaynak: Europe PMC

  25. 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 Kaynak: OpenAlex

  26. 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 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  27. 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 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

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

    Epileptic Disorders, 2023

    DOI 10.1002/epd2.20150 PMID 37584621 Açık erişimli tam metinKaynak: OpenAlex

  29. Breastfeeding and Motor Development in Preterm and Term Infants

    Springer eBooks, 2023

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

  30. Breastfeeding and Metabolic Programming

    Kocaeli Üniversitesi - AVESİS, 2023

    Kaynak: OpenAlex

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

    Kocaeli Üniversitesi - AVESİS, 2022

    Kaynak: OpenAlex

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

    Bursa Uludag University - AVESIS, 2022

    Kaynak: OpenAlex

  33. Pediatrik Nöroloji: Algoritmalar ve İlaç Rehberi

    Akademisyen Kitabevi eBooks, 2022

    DOI 10.37609/akya.2035 Açık erişimli tam metinKaynak: OpenAlex

  34. 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 atıf (OpenAlex) Kaynak: OpenAlex

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

    Pediatrics International, 2022

    DOI 10.1111/ped.15175 PMID 35522792 18 atıf (OpenAlex) Kaynak: OpenAlex

  36. 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 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  37. 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 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  38. 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 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  39. Permanent impairment of language in an adolescent case of autoimmune encephalitis

    Nöro Psikiyatri Arşivi, 2022

    DOI 10.29399/npa.28018 PMID 36514514 Açık erişimli tam metinKaynak: OpenAlex

  40. 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 Açık erişimli tam metinKaynak: OpenAlex

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

    Journal of Clinical Psychiatry, 2022

    DOI 10.5505/kpd.2022.83436 Açık erişimli tam metinKaynak: OpenAlex

  42. 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 atıf (Europe PMC) Açık erişimli tam metinKaynak: OpenAlex

  43. 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 atıf (Europe PMC) Açık erişimli tam metinKaynak: Europe PMC

  44. 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 atıf (OpenAlex) Kaynak: OpenAlex

  45. 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 atıf (OpenAlex) Kaynak: OpenAlex

  46. Neurodevelopmental Findings and Epilepsy in Malformations of Cortical Development

    Turkish Archives of Pediatrics, 2021

    DOI 10.5152/turkarchpediatr.2021.20148 PMID 35005731 4 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  47. 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 atıf (OpenAlex) Kaynak: OpenAlex

  48. 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 atıf (OpenAlex) Kaynak: OpenAlex

  49. 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 atıf (Europe PMC) Kaynak: OpenAlex

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

    Kocaeli Üniversitesi - AVESİS, 2019

    Kaynak: OpenAlex