Publications by authors named "Uluc Yis"

100Publications

De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy.

Eur J Med Genet 2020 Dec 31;64(2):104134. Epub 2020 Dec 31.

Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany. Electronic address:

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December 2020

Risk Factors of Post-Stroke Epilepsy in Children; Experience from a Tertiary Center and a Brief Review of the Literature.

J Stroke Cerebrovasc Dis 2021 Jan 13;30(1):105438. Epub 2020 Nov 13.

Department of Pediatric Neurology, Dokuz Eylul University, Faculty of Medicine, İzmir, Narlıdere, Turkey. Electronic address:

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January 2021

Neuroprotective Effects of Lacosamide and Memantine on Hyperoxic Brain Injury in Rats.

Neurochem Res 2020 Aug 22;45(8):1920-1929. Epub 2020 May 22.

Division of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey.

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August 2020

Intravenous Levetiracetam for Treatment of Seizures in Term and Preterm Neonates.

J Pediatr Neurosci 2020 Jan-Mar;15(1):15-20. Epub 2020 Mar 19.

Department of Pediatric Neurology, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey.

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March 2020

Rotavirus encephalopathy with concomitant acute cerebellitis: report of a case and review of the literature.

Turk J Pediatr 2020 ;62(1):119-124

Divisions of Pediatric Neurology, Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey.

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January 2020

Identification of Gene Mutations/Deletions in Patients with Early Onset Epilepsy.

Ann Indian Acad Neurol 2020 Mar-Apr;23(2):206-210. Epub 2020 Feb 25.

Department of Pediatric Genetics, Dokuz Eylül University Medical School, Izmir, Turkey.

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February 2020

-related autosomal recessive encephalopathy in 2 Turkish children.

Neurol Genet 2020 Feb 10;6(1):e392. Epub 2020 Jan 10.

Pediatric Neurology Clinic (A.Y.), Private Office, Diyarbakir, Turkey; Children's Hospital of Eastern Ontario Research Institute (H.L.), University of Ottawa, Canada; Division of Neurology (H.L.), Department of Medicine, The Ottawa Hospital, Canada; John Walton Muscular Dystrophy Research Centre (A.T.), Institute of Genetic Medicine, Newcastle University, UK; Dokuz Eylul University (S.H., E.S., E.Y., Y.O.), Izmir International Biomedicine and Genome Institute, Turkey; Faculty of Medicine (S.H., U.Y., A.I.P., P.E.), Department of Paediatric Neurology, Dokuz Eylul University, Izmir, Turkey; Faculty of Medicine (S.G.), Turgut Ozal Research Center, Department of Paediatric Neurology, Inonu University, Malatya, Turkey; CNAG-CRG (S.L., H.L., S.B.), Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Spain; Universitat Pompeu Fabra (S.L.), Barcelona, Spain; Koc University (A.Y.), School of Medicine, Medical Student, Istanbul, Turkey; Department of Clinical Neurosciences (R.H.), University of Cambridge School of Clinical Medicine, UK; Izmir Biomedicine and Genome Center (Y.O.), Dokuz Eylul University Health Campus, Turkey; and Faculty of Medicine (Y.O.), Department of Medical Biology, Dokuz Eylul University, Izmir, Turkey.

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February 2020

Giant axonal neuropathy: A differential diagnosis of consideration.

Turk J Pediatr 2019 ;61(2):275-278

Division of Child Neurology, Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey.

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July 2020

Herpes simplex virus-1 as a rare etiology of isolated acute cerebellitis: case report and literature review.

J Neurovirol 2020 04 12;26(2):270-272. Epub 2019 Sep 12.

Division of Pediatric Neurology, Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey.

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April 2020

Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family.

J Neuromuscul Dis 2019 ;6(3):377-384

Izmir International Biomedicine and Genom Institute, Dokuz Eylul University, Izmir, Turkey.

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February 2020

Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy.

Am J Med Genet A 2019 08 18;179(8):1580-1584. Epub 2019 May 18.

Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.

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August 2019

A Drug Reaction With Eosinophilia and Systemic Symptoms Syndrome Associated With Clobazam.

Pediatr Emerg Care 2020 Mar;36(3):e175

Department of Pediatrics, Division of Child Neurology, School of Medicine, Dokuz Eylül University İzmir, Turkey

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March 2020

Hypertrophic Neuropathy of the Sciatic Nerve.

Pediatr Neurol 2018 10 22;87:77. Epub 2017 Feb 22.

Division of Pediatric Radiology, Department of Radiology, School of Medicine, Dokuz Eylül University, İzmir, Turkey.

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October 2018

A boy with neck weakness.

Neuromuscul Disord 2018 03 5;28(3):236-237. Epub 2017 Dec 5.

Department of Pediatrics, University Hospital Cologne, Kerpener Str. 62, 50931 Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Str. 21, 50931 Cologne, Germany.

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March 2018

Changes of primary headache related white matter lesions in pediatric patients.

Turk J Pediatr 2018 ;60(4):380-384

Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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May 2019

PRUNE1: a disease-causing gene for secondary microcephaly.

Brain 2017 10;140(10):e61

Institute of Human Genetics, Center for Molecular Medicine Cologne, and Institute of Genetics, University of Cologne, Cologne, Germany.

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October 2017

Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE).

Eur J Paediatr Neurol 2017 Sep 13;21(5):773-782. Epub 2017 May 13.

Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey. Electronic address:

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September 2017

Acanthocytosis and HyperCKemia

Turk J Haematol 2018 11 17;35(4):296-297. Epub 2017 May 17.

University Hospital Cologne, Department of Pediatrics, Cologne, Germany

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November 2018

A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia.

Neurosciences (Riyadh) 2017 04;22(2):131-133

Division of Pediatric Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey.

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April 2017

Expanding spectrum of SCN1A-related phenotype with novel mutations.

Turk J Pediatr 2017 ;59(5):570-575

Divisions of Pediatric Genetics, Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey.

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January 2019

Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA.

Brain Dev 2017 Apr 19;39(4):361-364. Epub 2016 Nov 19.

Children's National Medical Center, Research Center for Genetic Medicine, 20010 Washington DC, USA; University Children's Hospital Cologne, 50931 Cologne, Germany; Center for Molecular Medicine, 50931 Cologne, Germany. Electronic address:

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April 2017

Schwartz-Jampel syndrome with gastroduodenal bleeding.

J Pediatr Neurosci 2016 Jul-Sep;11(3):255-257

Department of Pediatrics, Division of Child Neurology, School of Medicine, Dokuz Eylul University, Izmir, Turkey.

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November 2016

Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia.

Turk J Pediatr 2015 Sep-Oct;57(5):509-13

Division of Pediatric Neurology, Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey.

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September 2017

Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies.

Biomed Res Int 2016 31;2016:3128735. Epub 2016 Mar 31.

University Hospital of Cologne, Institute of Human Genetics, 50931 Cologne, Germany; University Hospital of Cologne, Department of Pediatrics, 50931 Cologne, Germany; Center for Molecular Medicine, 50931 Cologne, Germany.

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January 2017

Posterior reversible leukoencephalopathy syndrome with spinal cord involvement in a 9-year-old girl.

Brain Dev 2016 Jan 26;38(1):154-7. Epub 2015 Jul 26.

Dokuz Eylül University, School of Medicine, Department of Pediatrics, Division of Pediatric Nephrology, İzmir, Turkey.

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January 2016

Parieto-occipital encephalomalacia in children; clinical and electrophysiological features of twenty-seven cases.

J Pediatr Neurosci 2015 Apr-Jun;10(2):103-7

Department of Pediatric Neurology, Dokuz Eylul University Medical School, 35340, Inciraltı, Izmir, Turkey.

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July 2015

Life-Threatening and Rare Adverse Effects of Phenytoin.

Pediatr Emerg Care 2015 Jul;31(7):e3

Department of Pediatrics Division of Pediatric Neurology Dokuz Eylul University Izmir, Turkey

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July 2015

A case of acute post-streptococcal glomerulonephritis that developed posterior reversible encephalopathy syndrome.

Turk Pediatri Ars 2014 Dec 1;49(4):348-52. Epub 2014 Dec 1.

Clinic of Pediatric Neurology, Gaziantep Childrens' Hospital, Gaziantep, Turkey.

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December 2014

Importance of acrocyanosis in delayed walking.

J Pediatr Neurosci 2015 Jan-Mar;10(1):80-1

Department of Pediatrics, Division of Child Neurology, School of Medicine, Dokuz Eylül University, İzmir, Turkey.

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April 2015

Williams Syndrome with Infantile Spasms.

Indian J Pediatr 2015 Aug 14;82(8):757-8. Epub 2015 Mar 14.

Department of Pediatric Neurology, Dokuz Eylul University Hospital, Mithatpasa Cad., Narlidere, 35320, Izmir, Turkey,

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August 2015

An infant with hypomotor seizures and cutaneous lesions.

Acta Neurol Belg 2015 Dec 31;115(4):687-8. Epub 2014 Dec 31.

Division of Child Neurology, Department of Pediatrics, School of Medicine, Dokuz Eylül University, İzmir, Turkey.

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December 2015

A novel NTRK1 mutation in a patient with congenital insensitivity to pain with anhidrosis.

Acta Neurol Belg 2015 Sep 18;115(3):509-11. Epub 2014 Dec 18.

Division of Child Neurology, Department of Pediatrics, School of Medicine, Dokuz Eylül University, Izmir, Turkey,

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September 2015

Importance of acylcarnitine profile analysis for disorders of lipid metabolism in adolescent patients with recurrent rhabdomyolysis: Report of two cases.

Ann Indian Acad Neurol 2014 Oct;17(4):437-40

Department of Pediatrics, Division of Pediatric Neurology, Dokuz Eylul University Medical Faculty, Izmir, Turkey.

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October 2014

The Paediatric migraine disability assessment score is a useful tool for evaluating prophylactic migraine treatment.

Acta Paediatr 2014 Nov 23;103(11):e484-9. Epub 2014 Sep 23.

Division of Pediatric Neurology, Dokuz Eylul University Hospital, Izmir, Turkey.

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November 2014

Capillary malformation-arteriovenous malformation syndrome with spinal involvement.

Pediatr Dermatol 2014 Nov-Dec;31(6):744-6. Epub 2014 Jul 14.

Division of Child Neurology, Department of Pediatrics, School of Medicine, Dokuz Eylül University, İzmir, Turkey.

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November 2015

Effects of hyperglycemia on the developing brain in newborns.

Pediatr Neurol 2014 Aug 18;51(2):239-45. Epub 2014 Apr 18.

Department of Neonatology, Denizli T.C. Public Health Hospital, Denizli, Turkey.

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August 2014

Zonisamide attenuates hyperoxia-induced apoptosis in the developing rat brain.

Neurol Sci 2014 Nov 11;35(11):1769-75. Epub 2014 Jun 11.

Division of Pediatric Neurology, Department of Pediatrics, Dokuz Eylul University Medical Faculty, İzmir, Turkey,

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November 2014

Expression patterns of micro-RNAs 146a, 181a, and 155 in subacute sclerosing panencephalitis.

J Child Neurol 2015 Jan 30;30(1):69-74. Epub 2014 Apr 30.

School of Medicine, Department of Pediatrics, Division of Child Neurology, Dokuz Eylül University, İzmir, Turkey.

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January 2015

Carnitine palmitoyl transferase II deficiency in an adolescent presenting with rhabdomyolysis and acute renal failure.

Pediatr Emerg Care 2014 May;30(5):343-4

From the *Division of Pediatric Neurology, Department of Pediatrics, Dokuz Eylul University Medical Faculty; and †Dr Behcet Uz Child Disease and Pediatric Surgery Training and Research Hospital, Montro, İzmir, Turkey.

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May 2014

A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with Prader Willi syndrome.

J Child Neurol 2015 Mar 25;30(3):378-81. Epub 2014 Apr 25.

Department of Pediatrics, Division of Child Neurology, Dokuz Eylül University, School of Medicine, İzmir, Turkey.

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March 2015

Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1.

Pediatr Neurol 2014 May 7;50(5):491-7. Epub 2014 Jan 7.

Dokuz Eylül University, School of Medicine, Department of Pediatrics, Division of Child Neurology, İzmir, Turkey.

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May 2014

Clinical syndromes or ciliopathies associated with molar tooth sign.

Pediatr Neurol 2014 Jun 13;50(6):e16. Epub 2014 Feb 13.

Division of Child Neurology, Department of Pediatrics, Near East University, Lefkoşa, Turkish Republic of Northern Cyprus.

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June 2014

Kabuki syndrome and perisylvian cortical dysplasia in a Turkish girl.

J Pediatr Neurosci 2013 Sep;8(3):259-60

Department of Pediatrics, Division of Child Neurology, School of Medicine, Dokuz Eylül University, İzmir, Turkey.

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September 2013

The combination of thermal dysregulation and agenesis of corpus callosum: Shapiro's or/and reverse Shapiro's syndrome.

Ann Indian Acad Neurol 2013 Oct;16(4):716-9

Department of Pediatrics, Dokuz Eylul University Medical Faculty, Division of Pediatric Neurology, İzmir, Turkey.

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October 2013

Involuntary movements misdiagnosed as seizure during vitamin B12 treatment.

Pediatr Emerg Care 2013 Nov;29(11):1223-4

From the Divisions of *Pediatric Neurology and †Pediatric Hematology, Gaziantep Children's Hospital, Gaziantep, Turkey.

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November 2013

A case of atypical Miller Fisher syndrome with negative anti-GQ1b immunoglobulin G and importance of H reflex.

Turk J Pediatr 2013 Mar-Apr;55(2):235-6

Division of Pediatric Neurology, Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, Izmir, Turkey.

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December 2013

Molar tooth sign is not pathognomonic for Joubert syndrome.

Pediatr Neurol 2013 Dec 10;49(6):515-6. Epub 2013 Oct 10.

Açık Radio Imaging Center, İzmir, Turkey.

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December 2013

Chronic spinal epidural hematoma.

J Pediatr 2014 Jan 8;164(1):215-215.e1. Epub 2013 Oct 8.

Division of Child Neurology, Department of Pediatrics, Dokuz Eylül University, School of Medicine, İzmir, Turkey.

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January 2014

Caffeic acid phenethyl ester prevents apoptotic cell death in the developing rat brain after pentylenetetrazole-induced status epilepticus.

Epilepsy Behav 2013 Nov 6;29(2):275-80. Epub 2013 Sep 6.

Dokuz Eylül University, School of Medicine, Department of Pediatrics, Division of Pediatric Neurology, İzmir, Turkey. Electronic address:

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November 2013

Phrenic nerve palsy associated with brachial plexus avulsion in a pediatric patient with multitrauma.

Pediatr Emerg Care 2013 Aug;29(8):922-3

Department of Pediatric Neurology, Dokuz Eylul University Medical School, Izmir, Turkey.

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August 2013

Comparison of cranial magnetic resonance imaging findings and clinical features in patients with corpus callosum abnormalities.

Neuropediatrics 2014 Feb 25;45(1):30-5. Epub 2013 Jul 25.

Division of Pediatric Neurology, Dokuz Eylul University Hospital, Izmir, Turkey.

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February 2014

Coexistence of myositis, transverse myelitis, and Guillain Barré syndrome following Mycoplasma pneumoniae infection in an adolescent.

J Pediatr Neurosci 2013 Jan;8(1):59-63

Department of Pediatrics, Division of Pediatric Neurology, Dokuz Eylul University Medical Faculty, Izmir, Turkey.

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January 2013

Pneumatosis intestinalis due to rotavirus infection in a child with Prader-Willi syndrome.

Turk J Pediatr 2012 Nov-Dec;54(6):679-81

Division of Pediatric Neurology, Department of Pediatrics and Department of Radiology, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey.

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July 2014

Incidental white matter lesions in children presentıng with headache.

Headache 2013 Jun 1;53(6):970-6. Epub 2013 Apr 1.

Department of Pediatrics, Division of Pediatric Neurology, Dokuz Eylul University Hospital, Izmir, Turkey.

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June 2013

A novel mutation in the sodium channel α1 subunit gene in a child with Dravet syndrome in Turkey.

Neural Regen Res 2013 Apr;8(10):955-8

Department of Pediatric Neurology, Gülhane Military Medical School, Etlik, Ankara 06018, Turkey.

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April 2013

Severe neurologic involvement of Degos disease in a pediatric patient.

J Child Neurol 2014 Apr 11;29(4):550-4. Epub 2013 Feb 11.

1Department of Pediatric Neurology, Dokuz Eylul University Medical School, Izmir, Turkey.

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April 2014

Acute cervical dystonia after the first dose of butamirate citrate.

Pediatr Emerg Care 2013 Jan;29(1):80-1

Division of Pediatric Neurology, Department of Pediatric Neurology, Dokuz Eylul University Medicine Faculty, Izmir, Turkey.

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January 2013

Importance of diazepam administration during electroencephalography in the differential diagnosis of cortical visual loss.

J Child Neurol 2014 Jan 5;29(1):114-7. Epub 2012 Dec 5.

1Dokuz Eylül University, School of Medicine, Department of Pediatrics, Division of Child Neurology, İzmir, Turkey.

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January 2014

Polysomnographic and long-term video electroencephalographic evaluation of cases presenting with parasomnias.

Acta Neurol Belg 2013 Sep 8;113(3):285-9. Epub 2012 Nov 8.

Division of Pediatric Neurology, Department of Pediatrics, School of Medicine, Dokuz Eylül University, Izmir, Turkey.

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September 2013

Molybdenum cofactor deficiency: review of 12 cases (MoCD and review).

Eur J Paediatr Neurol 2013 Jan 31;17(1):1-6. Epub 2012 Oct 31.

Dokuz Eylul University Hospital, Department of Pediatrics, Division of Pediatric Neurology, 35340 Balcova, Izmir, Turkey.

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January 2013

Acquired epileptiform opercular syndrome: F-18 fluorodeoxyglucose positron emission tomography (FDG-PET) findings and efficacy of levetiracetam therapy.

Epilepsy Behav 2012 Sep 19;25(1):50-3. Epub 2012 Aug 19.

Gülhane Military Medical School, Department of Pediatrics, Division of Child Neurology, Etlik, Ankara, Turkey.

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September 2012

Correlation between motor performance scales, body composition, and anthropometry in patients with Duchenne muscular dystrophy.

Acta Neurol Belg 2013 Jun 14;113(2):133-7. Epub 2012 Sep 14.

Division of Pediatric Neurology, Department of Pediatrics, Dokuz Eylul University Hospital, Narlidere, Izmir, Turkey.

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June 2013

Silent cerebral infarct in child patients with beta thalassaemia intermedia.

Blood Coagul Fibrinolysis 2012 Oct;23(7):608-13

Gaziantep Childrens Hospital, Pediatric Hematology Division, Gaziantep, Turkey.

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October 2012

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy and PEHO-like syndrome: Report of two cases.

J Pediatr Neurosci 2011 Jul;6(2):165-8

Division of Child Neurology, Gaziantep Children's Hospital, Gaziantep, Turkey.

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July 2011

Obstructive hydrocephalus resulting from cerebral venous thrombosis.

J Pediatr Neurosci 2011 Jul;6(2):129-30

Department of Pediatric Cardiology, Gaziantep Children's Hospital, Gaziantep, Turkey.

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July 2011

Sjögren-Larsson syndrome: report of monozygote twins and a case with a novel mutation.

Turk J Pediatr 2012 Jan-Feb;54(1):64-6

Department of Child Neurology, Gaziantep Children's Hospital, Gaziantep, Turkey.

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April 2012