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| 36736453 | Probable association between mRNA COVID-19 vaccine and opsoclonus-myoclonus-ataxia syndrome. | J AAPOS | 2023 |
| 37659352 | A multicenter study of radiologically isolated syndrome in children and adolescents: Can we predict the course? | Mult Scler Relat Disord | 2023 |
| 37172460 | The Effect of Interleukin-1 Antagonists on Brain Volume and Cognitive Function in Two Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts. | Pediatr Neurol | 2023 |
| 37357451 | Congenital Cytomegalovirus Infection Screening in Newborns From Saliva Samples by Real-Time Polymerase Chain Reaction Analysis. | Turk Arch Pediatr | 2023 |
| 36787800 | Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study. | Neuropediatrics | 2023 |
| 34664705 | Surgical Treatment in Refractory Epilepsy: Seizure Outcome Results Based on Invasive EEG Monitorization. | Turk Neurosurg | 2022 |
| 36514522 | Neurodevelopmental Outcome in Patients with Typical Imaging Features of Injury as a Result of Neonatal Hypoglycemia. | Noro Psikiyatr Ars | 2022 |
| 36158049 | Proteomic Analysis of m.8296A>G Variation in the Mitochondrial <i>tRNA</i> <sup>Lys</sup> Gene. | Mol Syndromol | 2022 |
| 35221871 | <i>BEND4</i> as a Candidate Gene for an Infection-Induced Acute Encephalopathy Characterized by a Cyst and Calcification of the Pons and Cerebellar Atrophy. | Mol Syndromol | 2022 |
| 35098522 | Recurrent Blistering Skin Lesions and Reversible Monocular Abducens Paralysis in a Patient with CD59 Deficiency. | Neuropediatrics | 2022 |
| 35238477 | Angioedema-like presentation as the presenting finding of juvenile myositis and juvenile dermatomyositis in 2 patients. | Int J Rheum Dis | 2022 |
| 33218883 | Acute flaccid myelitis outbreak through 2016-2018: A multicenter experience from Turkey. | Eur J Paediatr Neurol | 2021 |
| 35110050 | Could Maternal COVID-19 Disease be a Risk Factor for Neurodevelopmental Disorders in the Child? | Turk Arch Pediatr | 2021 |
| 34120800 | Cytotoxic lesions of the corpus callosum in children: Etiology, clinical and radiological features, and prognosis. | Brain Dev | 2021 |
| 34058495 | Clinical and electrophysiological predictors of behavioral disorders in patients with benign childhood epilepsy with centrotemporal spikes. | Epilepsy Behav | 2021 |
| 32599536 | Early-onset rapidly progressive myoclonic epilepsy associated with G392R likely pathogenic variant in SERPINI1. | Seizure | 2020 |
| 32691099 | Monogenic lupus due to spondyloenchondrodysplasia with spastic paraparesis and intracranial calcification: case-based review. | Rheumatol Int | 2020 |
| 31353455 | FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems. | Clin Genet | 2019 |
| 32105016 | Acute ophthalmoparesis and persistent mydriasis: expanding the clinical spectrum of anti-GQ1b positive cranial neuropathy in a 5.5-year-old girl. | Turk J Pediatr | 2019 |
| 29395675 | Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up. | Neuromuscul Disord | 2018 |
| 30013181 | Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. | Nat Genet | 2018 |
| 30290857 | Corrigendum to "Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up" [Neuromuscular Disorders 28/4 (2018) 315-322]. | Neuromuscul Disord | 2018 |
| 28434238 | The Characteristics and Long-Term Course of Epilepsy in Lipoid Proteinosis: A Spectrum From Mild to Severe Seizures in Relation to ECM1 Mutations. | Clin EEG Neurosci | 2018 |
| 27894792 | Pyruvate dehydrogenase-E1α deficiency presenting as recurrent acute proximal muscle weakness of upper and lower extremities in an 8-year-old boy. | Neuromuscul Disord | 2017 |
| 28427702 | Long-term clinical and radiologic follow-up of Schilder's disease. | Mult Scler Relat Disord | 2017 |
| 28295203 | PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia. | Clin Genet | 2017 |
| 28343629 | Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. | Am J Hum Genet | 2017 |
| 27935218 | Neonatal sepsis and simple minor neurological dysfunction. | Pediatr Int | 2017 |
| 28051070 | Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A. | Eur J Hum Genet | 2017 |
| 27218417 | Clinical outcomes in children with herpes simplex encephalitis receiving steroid therapy. | J Clin Virol | 2016 |
| 28360767 | Head Circumference Charts for Turkish Children Aged Five to Eighteen Years. | Noro Psikiyatr Ars | 2016 |
| 27666774 | The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study. | Neuromuscul Disord | 2016 |
| 27236449 | SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations. | Seizure | 2016 |
| 25604658 | Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. | Am J Med Genet A | 2015 |
| 27411419 | Clinical and neuroradiologic variability of Aicardi-Goutiéres syndrome: Two siblings with RNASEH2C mutation and a boy with TREX1 mutation. | Turk J Pediatr | 2015 |
| 26701950 | TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family. | Turk J Pediatr | 2015 |
| 26084120 | A CGH array study in nonsyndromic (primary) autism patients: deletions on 16p13.11, 16p11.2, 1q21.1, 2q21.1q21.2, and 8p23.1. | Turk J Med Sci | 2015 |
| 23175752 | Using the modified checklist for autism in toddlers in a well-child clinic in Turkey: adapting the screening method based on culture and setting. | Autism | 2014 |
| 24433453 | Adult phenotype and further phenotypic variability in SRD5A3-CDG. | BMC Med Genet | 2014 |
| 24482476 | Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. | Science | 2014 |
| 22782654 | KCNJ10 gene mutation in an 8-year-old boy with seizures. | Acta Neurol Belg | 2013 |
| 28360545 | Psychiatric and Neurocognitive Evaluation Focused on Frontal Lobe Functions in Rolandic Epilepsy. | Noro Psikiyatr Ars | 2013 |
| 24108130 | New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. | J Biol Chem | 2013 |
| 24192681 | Mild hemolytic anemia, progressive neuromotor retardation and fatal outcome: a disorder of glycolysis, triose- phosphate isomerase deficiency. | Turk J Pediatr | 2013 |
| 23831249 | Seropositive neuromyelitis optica: a pediatric case report and 6-year follow-up. | Pediatr Neurol | 2013 |
| 24012511 | Fine motor skills in children with rolandic epilepsy. | Epilepsy Behav | 2013 |
| 22819295 | Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.8993T>C mutation in the MT-ATP6 gene. | Mol Genet Metab | 2012 |
| 21449903 | Clinical features of nine patients with alternating hemiplegia of childhood. | J Paediatr Child Health | 2011 |
| 21330303 | A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures. | Hum Mol Genet | 2011 |
| 19378896 | Cerebral vasculitis and obsessive-compulsive disorder following varicella infection in childhood. | Turk J Pediatr | 2009 |