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Childhood vertigo: A retrospective series of 791 cases

Neurology Asia, 2024-03, Vol.29 (1), p.229-236

2024

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Epidemiology of type 1 diabetes mellitus in children and adolescents: A 50‐year, single‐center experience

Journal of diabetes, 2024-05, Vol.16 (5), p.e13562-n/a

2024

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Clinical and laboratory features of children with tremor: a single-center experience

Acta neurologica Belgica, 2022-04, Vol.122 (2), p.479-484

2022

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Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature

Human genome variation, 2019-05, Vol.6 (1), p.24-24, Article 24

2019

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Diagnostic Pathway to Nonsense Mutation Dystrophinopathy: A Tertiary-Center, Retrospective Experience

Neuropediatrics, 2019-02, Vol.50 (1), p.41-45

2019

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Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials

Annals of clinical and translational neurology, 2020-11, Vol.7 (11), p.2288-2296

2020

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Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency

European journal of paediatric neurology, 2024-03, Vol.49, p.66-72

2024

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Rare skin manifestation of juvenile dermatomyositis: peri-orbital oedema and facial swelling

Paediatrics and international child health, 2024-10, p.1-5

2024

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High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy

Annals of human genetics, 2023-05, Vol.87 (3), p.104-114

2023

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Unraveling neuronal ceroid lipofuscinosis type 2 (CLN2) disease: A tertiary center experience for determinants of diagnostic delay

European journal of paediatric neurology, 2021-07, Vol.33, p.94-98

2021

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ETIOLOGY, DIAGNOSIS, AND MANAGEMENT OF CHILDHOOD MICROCEPHALY: A SINGLE-CENTER RETROSPECTIVE STUDY

MNJ (Malang Neurology Journal) (Online), 2022-07, Vol.8 (2), p.88-93

2022

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Long-term effects of vagus nerve stimulation in refractory pediatric epilepsy: A single-center experience

Epilepsy & behavior, 2020-09, Vol.110, p.107147-107147, Article 107147

2020

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A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement

Neuromuscular disorders : NMD, 2019-06, Vol.29 (6), p.448-455

2019

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Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation

Neuromuscular disorders : NMD, 2017-03, Vol.27 (3), p.239-242

2017

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Reversible Hypertensive Myelopathy-The Spinal Cord Variant of Posterior Reversible Encephalopathy Syndrome

Neuropediatrics, 2017-04, Vol.48 (2), p.115-118

2017

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FXR1 -related congenital myopathy: expansion of the clinical and genetic spectrum

Journal of medical genetics, 2022-11, Vol.59 (11), p.1069-1074

2022

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Clinical and genetic characteristics of patients with neuronal ceroid lipofuscinosis over a 20-year period in Turkey

European journal of paediatric neurology, 2017-06, Vol.21, p.e162-e163

2017

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Clinical characteristics of type 1 diabetes over a 40 year period in Turkey: secular trend towards earlier age of onset

Journal of Pediatric Endocrinology and Metabolism, 2014-07, Vol.27 (7-8), p.635

2014

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Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

American journal of human genetics, 2016-11, Vol.99 (5), p.1086-1105

2016

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Neonatal-Onset Recurrent Guillain–Barré Syndrome-Like Disease: Clues for Inherited CD59 Deficiency

Neuropediatrics, 2017-12, Vol.48 (6), p.477-481

2017

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Cerebral Hyperperfusion in a Child with Stroke-Like Migraine Attacks after Radiation Therapy Syndrome

Neuropediatrics, 2016-08, Vol.47 (4), p.259-262

2016

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A rare cause of developmental delay and epilepsy in two siblings: Asparagine synthetase deficiency

European journal of paediatric neurology, 2017-06, Vol.21, p.e126-e127

2017

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Niemann-Pick disease type C in the newborn period: Reflections from 10 patients

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S123-S123

2016

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Evaluation and Management of the First Unprovoked Seizure in Children: Single-Center Experience First Unprovoked Seizure in Children

Annals of medical research, 2022, Vol.29 (11), p.1

2022

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Childhood vertigo: A retrospective series of 791 cases

Epidemiology of type 1 diabetes mellitus in children and adolescents: A 50‐year, single‐center experience

Clinical and laboratory features of children with tremor: a single-center experience

Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature

Diagnostic Pathway to Nonsense Mutation Dystrophinopathy: A Tertiary-Center, Retrospective Experience

Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials

Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency

Rare skin manifestation of juvenile dermatomyositis: peri-orbital oedema and facial swelling

High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy

Unraveling neuronal ceroid lipofuscinosis type 2 (CLN2) disease: A tertiary center experience for determinants of diagnostic delay

ETIOLOGY, DIAGNOSIS, AND MANAGEMENT OF CHILDHOOD MICROCEPHALY: A SINGLE-CENTER RETROSPECTIVE STUDY

Long-term effects of vagus nerve stimulation in refractory pediatric epilepsy: A single-center experience

Targeted sequencing with expanded gene profile enables high diagnostic yield in non‐5q‐spinal muscular atrophies

A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement

Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation

Reversible Hypertensive Myelopathy-The Spinal Cord Variant of Posterior Reversible Encephalopathy Syndrome

FXR1 -related congenital myopathy: expansion of the clinical and genetic spectrum

Clinical and genetic characteristics of patients with neuronal ceroid lipofuscinosis over a 20-year period in Turkey

Clinical characteristics of type 1 diabetes over a 40 year period in Turkey: secular trend towards earlier age of onset

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

Neonatal-Onset Recurrent Guillain–Barré Syndrome-Like Disease: Clues for Inherited CD59 Deficiency

Cerebral Hyperperfusion in a Child with Stroke-Like Migraine Attacks after Radiation Therapy Syndrome

A rare cause of developmental delay and epilepsy in two siblings: Asparagine synthetase deficiency

Niemann-Pick disease type C in the newborn period: Reflections from 10 patients

Evaluation and Management of the First Unprovoked Seizure in Children: Single-Center Experience First Unprovoked Seizure in Children

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