Search Results - "İpek Polat, Ayşe"
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Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights
Published in Journal of child neurology (01-07-2017)“…Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders of neuromuscular transmission. Most are treatable, but certain subtypes…”
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Cerebellar volume in early-onset schizophrenia and its association with severity of symptoms
Published in Journal of international medical research (01-01-2019)“…Objectives This study aimed to investigate whether early-onset schizophrenia (EOS) cases differ from controls regarding volumes of the total cerebellum and the…”
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Cerebellar volumes in early-onset bipolar disorder: a pilot study of a stereological measurement technique
Published in Klinik psikofarmakoloji bülteni (03-07-2019)“…Recent data from the literature have recognized the importance of cerebellum in bipolar disorder. Brain imaging studies focusing on cerebellar volumetric…”
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Clinical predictors of drug-resistant epilepsy in children
Published in Turkish journal of medical sciences (28-06-2021)Get full text
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Evaluation of Autonomic Dysfunction in Pediatric Migraine Patients
Published in Journal of Behçet Uz Children's Hospital (27-08-2024)“…Objective: Headache during childhood is a common condition. Although recent studies have shown that the autonomic nervous system (ANS) in adult migraine…”
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Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA
Published in Brain & development (Tokyo. 1979) (01-04-2017)“…Abstract Background Dropped head syndrome is an easily recognizable clinical presentation of Lamin A/C -related congenital muscular dystrophy. Patients usually…”
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An infant with hypomotor seizures and cutaneous lesions
Published in Acta neurologica Belgica (01-12-2015)Get full text
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Parieto-occipital encephalomalacia in children; clinical and electrophysiological features of twenty-seven cases
Published in Journal of pediatric neurosciences (01-04-2015)“…Brain injuries occurring at a particular time may cause damages in well-defined regions of brain. Perinatal hypoxic ischemic encephalopathy and hypoglycemia…”
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Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders
Published in Genetics in medicine (01-06-2024)“…We describe 3 families with Charcot-Marie-Tooth neuropathy (CMT), harboring a homozygous NDUFS6 NM_004553.6:c.309+5G>A variant previously linked to fatal Leigh…”
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An Unusual Presentation of Leber Hereditary Optic Neuropathy-Plus Case Caused by a Novel DNAJC30 Variant
Published in American journal of medical genetics. Part A (15-10-2024)“…Leber hereditary optic neuropathy (LHON) is characterized by vision loss due to the degeneration of retinal ganglion cells. LHON-Plus refers to LHON with…”
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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
Published in American journal of human genetics (06-09-2018)“…ADP-ribosylation, the addition of poly-ADP ribose (PAR) onto proteins, is a response signal to cellular challenges, such as excitotoxicity or oxidative stress…”
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Çocuk yoğun bakım ünitesinde izlenen olguların elektroensefalografi sonuçlarının geriye dönük olarak değerlendirilmesi
Published in Pamukkale Medical Journal (01-10-2021)“…Amaç Çocuk Yoğun Bakım ünitesinde izlenen ve elektroensefalogram (EEG) çekilen olguların, çekim nedenlerinin ve EEG sonuçlarının değerlendirilmesi Gereç ve…”
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The impacts of poor glycemic control and disease duration on peripheral nerves in children and adolescents with type 1 diabetes mellitus
Published in Neurology Asia (01-06-2022)“…Objective: To evaluate the risk factors of subclinical neuropathy, and the nerve conduction study (NCS) results in children, and adolescents with type 1…”
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COL4A1-related autosomal recessive encephalopathy in 2 Turkish children
Published in Neurology. Genetics (01-02-2020)“…This study presents the neurologic phenotypes of 2 brothers with a novel homozygous mutation that was identified in a large Turkish consanguineous cohort of…”
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Identification of the largest homozygous glycine decarboxylase gene deletion in a Turkish infant
Published in Pediatrics and neonatology (01-12-2018)Get full text
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Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia
Published in Turkish journal of pediatrics (01-09-2015)“…Schimke immuno-osseous dysplasia is an autosomal recessive multisystem disorder caused by defects in SWI/SNF-related, matrix-associated, actin-dependent…”
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Targeted sequencing with expanded gene profile enables high diagnostic yield in non‐5q‐spinal muscular atrophies
Published in Human mutation (01-09-2018)“…Spinal muscular atrophies (SMAs) are a heterogeneous group of disorders characterized by muscular atrophy, weakness, and hypotonia due to suspected lower motor…”
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Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD)
Published in Clinical immunology (Orlando, Fla.) (01-12-2015)“…Abstract Schimke immuno-osseous dysplasia (SIOD) is an autosomal recessive, fatal childhood disorder associated with skeletal dysplasia, renal dysfunction, and…”
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