Publications by authors named "Goknur Haliloglu"

72Publications

Inflammatory milieu of muscle biopsies in juvenile dermatomyositis.

Rheumatol Int 2020 Oct 26. Epub 2020 Oct 26.

Pediatric Pathology Unit, Department of Pediatrics, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1007/s00296-020-04735-wDOI Listing
October 2020

Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder.

Pediatrics 2020 11;146(5)

Pediatric Neurology, Department of Pediatrics and.

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http://dx.doi.org/10.1542/peds.2019-3460DOI Listing
November 2020

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

Ann Clin Transl Neurol 2020 Nov 10;7(11):2288-2296. Epub 2020 Oct 10.

The Dubowitz Neuromuscular Centre, Developmental Neuroscience Program, UCL Great Ormond Street Institute of Child Health, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1002/acn3.51218DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7664282PMC
November 2020

A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion.

Neuropediatrics 2020 Jul 14. Epub 2020 Jul 14.

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

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http://dx.doi.org/10.1055/s-0040-1714125DOI Listing
July 2020

A Novel Amplification-Refractory Mutation System-PCR Strategy to Screen Pathogenic Variants in Patient Repositories.

Genet Test Mol Biomarkers 2020 Mar;24(3):165-170

Department of Medical Biology, Hacettepe University School of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1089/gtmb.2019.0079DOI Listing
March 2020

Recurrent Demyelinating Episodes as Sole Manifestation of Inherited CD59 Deficiency.

Neuropediatrics 2020 06 21;51(3):206-210. Epub 2019 Nov 21.

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

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http://dx.doi.org/10.1055/s-0039-3399583DOI Listing
June 2020

Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency.

Pediatr Neurol 2019 10 28;99:69-75. Epub 2019 Jun 28.

Division of Pediatric Metabolism, Hacettepe University Children's Hospital, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.06.015DOI Listing
October 2019

Risk factors for seizure recurrence in a pediatric observation unit.

Am J Emerg Med 2019 12 25;37(12):2151-2154. Epub 2019 Jan 25.

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

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http://dx.doi.org/10.1016/j.ajem.2019.01.042DOI Listing
December 2019

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

Neuropediatrics 2019 02 19;50(1):41-45. Epub 2018 Nov 19.

Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1675626
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http://dx.doi.org/10.1055/s-0038-1675626DOI Listing
February 2019

Clinical and molecular evaluation of 16 patients with Rett syndrome.

Turk J Pediatr 2018 ;60(1):1-9

Division of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.24953/turkjped.2018.01.001DOI Listing
January 2019

Niemann-Pick disease type C in the newborn period: a single-center experience.

Eur J Pediatr 2017 Dec 27;176(12):1669-1676. Epub 2017 Sep 27.

Department of Pediatric Gastroenterology, Hacettepe University Children's Hospital, Sihhiye, 06100, Ankara, Turkey.

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http://dx.doi.org/10.1007/s00431-017-3020-yDOI Listing
December 2017

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

Neuropediatrics 2017 12 11;48(6):477-481. Epub 2017 Aug 11.

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

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http://dx.doi.org/10.1055/s-0037-1604483DOI Listing
December 2017

Diagnosis of Duchenne muscular dystrophy in Italy in the last decade: Critical issues and areas for improvements.

Neuromuscul Disord 2017 10 3;27(10):973. Epub 2017 Jul 3.

Hacettepe University Children's Hospital, Department of Pediatric Neurology, 06100 Ankara, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.06.555DOI Listing
October 2017

Expanding the phenotypic spectrum associated with mutations of DYNC1H1.

Neuromuscul Disord 2017 Jul 5;27(7):607-615. Epub 2017 May 5.

Neurogenetic Diseases Group Centre for Medical Research, QEII Medical Centre, University of Western Australia, Nedlands, WA 6009, Australia; QEII Medical Centre, Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.04.011DOI Listing
July 2017

Corrigendum to "Challenges in pediatric chronic inflammatory demyelinating polyneuropathy" [Neuromuscular Disorders 26/12 (2016) 817-824].

Neuromuscul Disord 2017 05 7;27(5):e3. Epub 2017 Mar 7.

Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.01.005DOI Listing
May 2017

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

Neuromuscul Disord 2017 Mar 23;27(3):239-242. Epub 2016 Dec 23.

Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.12.008DOI Listing
March 2017

Challenges in pediatric chronic inflammatory demyelinating polyneuropathy.

Neuromuscul Disord 2016 Dec 22;26(12):817-824. Epub 2016 Sep 22.

Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.09.016DOI Listing
December 2016

Hereditary Dopamine Transporter Deficiency Syndrome: Challenges in Diagnosis and Treatment.

Neuropediatrics 2017 Feb 30;48(1):49-52. Epub 2016 Sep 30.

Department of Pediatric Neurology, Hacettepe University Ihsan Dogramaci Children's Hospital, Ankara, Turkey.

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http://dx.doi.org/10.1055/s-0036-1593372DOI Listing
February 2017

Childhood Epilepsy with Occipital Paroxysm: Classification, Atypical Evolution and Long-Term Prognosis in 35 Patients.

Turk J Pediatr 2015 Sep-Oct;57(5):439-52

Department of Pediatrics, Hacettepe University Faculty of Medicine; Dr. Sami Ulus Children's Hospital, Ankara, Turkey.

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September 2017

Susceptibility-Weighted Magnetic Resonance Imaging Findings of Two Pediatric Migraine Patients with Aura.

Neuropediatrics 2016 Jan 30;47(1):46-50. Epub 2015 Dec 30.

Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1055/s-0035-1570322DOI Listing
January 2016

Conventional and advanced MR imaging in infantile Refsum disease.

Turk J Pediatr 2015 May-Jun;57(3):294-9

Divisions of Pediatric Nutrition and Metabolism, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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August 2016

Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients.

J Inherit Metab Dis 2015 Nov 12;38(6):1099-108. Epub 2015 Jun 12.

Department of Pediatric Neurology, Hacettepe University Children's Hospital, 06100, Ankara, Turkey.

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http://dx.doi.org/10.1007/s10545-015-9856-2DOI Listing
November 2015

Acute Abducens Nerve Paralysis in the Pediatric Emergency Department: Analysis of 14 Patients.

Pediatr Emerg Care 2016 May;32(5):307-11

From the *Department of Pediatrics, Division of Pediatric Emergency Medicine, †Department of Pediatrics, Division of Pediatric Neurology, and §Department of Radiology, Hacettepe University Medical Faculty, Ankara, Turkey.

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http://dx.doi.org/10.1097/PEC.0000000000000366DOI Listing
May 2016

Early-onset chronic axonal neuropathy, strokes, and hemolysis: inherited CD59 deficiency.

Neurology 2015 Mar 25;84(12):1220-4. Epub 2015 Feb 25.

From the Departments of Pediatric Neurology (G.H., B.S., H.T.), Neurology (C.T.), Pediatric Hematology (B.T., M.C.), and Radiology (K.K.O.), Hacettepe University Ankara, Turkey; Unité Mixte de Recherche (UMR)-986 (J. Maluenda, J. Melki), Inserm and University Paris Sud; Hematology Laboratory (C.A., V.P.), AP-HP, CHU Bicêtre, France; and Centro Nacional de Análisis Genómico (I.G.), Barcelona, Spain.

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http://dx.doi.org/10.1212/WNL.0000000000001391DOI Listing
March 2015

The role of electrocardiography in the diagnosis of spinal muscular atrophy type III.

J Pediatr 2015 Apr 4;166(4):1092. Epub 2015 Feb 4.

Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.jpeds.2014.12.056DOI Listing
April 2015

Wernicke encephalopathy due to thiamine deficiency after surgery on a child with duodenal stenosis.

Pediatr Neurol 2014 Dec 4;51(6):840-2. Epub 2014 Sep 4.

Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.08.034DOI Listing
December 2014

Successful treatment of cataplexy in patients with early-infantile Niemann-Pick disease type C: use of tricyclic antidepressants.

Eur J Paediatr Neurol 2014 Nov 6;18(6):811-5. Epub 2014 Aug 6.

Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.ejpn.2014.07.009DOI Listing
November 2014

Neuroblastoma in a Patient With Spinal Muscular Atrophy Type I: Is It Just a Coincidence?

J Child Neurol 2015 Jul 14;30(8):1075-8. Epub 2014 Aug 14.

Division of Pediatric Oncology, Hacettepe University, Ihsan Doğramaci Children's Hospital, Ankara, Turkey.

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http://dx.doi.org/10.1177/0883073814542950DOI Listing
July 2015

SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.

Am J Hum Genet 2014 Aug 31;95(2):218-26. Epub 2014 Jul 31.

Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129406PMC
August 2014

Etiological yield of SNP microarrays in idiopathic intellectual disability.

Eur J Paediatr Neurol 2014 May 25;18(3):327-37. Epub 2014 Jan 25.

Hacettepe University, Department of Pediatric Genetics, Ankara, Turkey; Hacettepe University, Department of Medical Genetics, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.ejpn.2014.01.004DOI Listing
May 2014

Arthrogryposis and fetal hypomobility syndrome.

Handb Clin Neurol 2013 ;113:1311-9

Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00003-4DOI Listing
March 2014

A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy.

J Child Neurol 2013 Jul 22;28(7):926-32. Epub 2013 Apr 22.

Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1177/0883073813484967DOI Listing
July 2013

Double trouble: Duchenne muscular dystrophy and hemophilia.

Pediatr Blood Cancer 2013 Mar 19;60(3):525. Epub 2012 Dec 19.

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http://dx.doi.org/10.1002/pbc.24376DOI Listing
March 2013

Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II).

Eur J Pediatr 2012 Oct 17;171(10):1567-71. Epub 2012 Apr 17.

Department of Pediatrics, Division of Pediatric Genetic, Hacettepe University Children's Hospital, 06100 Ankara, Turkey.

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http://dx.doi.org/10.1007/s00431-012-1732-6DOI Listing
October 2012

When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield and retrospective analysis from a tertiary center.

Turk J Pediatr 2012 Jan-Feb;54(1):52-8

Unit of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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April 2012

Benign monomelic amyotrophy in a 7-year-old girl with proximal upper limb involvement: case report.

Turk J Pediatr 2011 Jul-Aug;53(4):471-6

Department of Physical Therapy and Rehabilitation, Faculty of Health Sciences, Hacettepe University, Ankara, Turkey.

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November 2011

3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures.

Turk J Pediatr 2009 Nov-Dec;51(6):587-92

Unit of Metabolism and Nutrition, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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March 2010

Structural abnormalities of the brain other than molar tooth sign in Joubert syndrome-related disorders.

Diagn Interv Radiol 2010 Mar 27;16(1):3-6. Epub 2010 Jan 27.

Department of Radiology, Hacettepe University School of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.4261/1305-3825.DIR.2673-09.1DOI Listing
March 2010

Do the physiotherapy results make us happy in a case with 'happy puppet' (Angelman) syndrome?

BMJ Case Rep 2010 Dec 29;2010. Epub 2010 Dec 29.

Department of Physiotherapy and Rehabilitation, Hacettepe University, Samanpazari, Ankara, Turkey.

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http://dx.doi.org/10.1136/bcr.06.2010.3081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3027362PMC
December 2010

Pseudopapilledema in a pediatric kidney transplant recipient.

Pediatr Transplant 2010 Nov 5;14(7):E83-5. Epub 2010 Aug 5.

Department of Pediatric Nephrology, Hacettepe University School of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1111/j.1399-3046.2009.01165.xDOI Listing
November 2010

Mycoplasma pneumoniae-associated transverse myelitis with unexpected rapid response to macrolide therapy: a case report.

Turk J Pediatr 2008 Nov-Dec;50(6):585-8

Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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March 2009

Prenatal diagnosis of Pena-Shokeir syndrome phenotype by ultrasonography and MR imaging.

Pediatr Radiol 2009 Apr 5;39(4):377-80. Epub 2009 Feb 5.

Department of Radiology, Hacettepe University Faculty of Medicine, Sihhiye, Ankara, Turkey.

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http://dx.doi.org/10.1007/s00247-008-1121-5DOI Listing
April 2009

Relapsing Herpes simplex virus encephalitis despite high-dose acyclovir therapy: a case report.

Turk J Pediatr 2008 Jul-Aug;50(4):380-2

Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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December 2008

Recurrent pseudotumoral hemicerebellitis: neuroimaging findings.

Pediatr Radiol 2008 Apr 8;38(4):462-6. Epub 2008 Jan 8.

Department of Radiology, Faculty of Medicine, Hacettepe University, Sihhiye, 06100 Ankara, Turkey.

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http://dx.doi.org/10.1007/s00247-007-0725-5DOI Listing
April 2008

Serum retinol and beta-carotene levels in subacute sclerosing panencephalitis.

J Child Neurol 2007 Mar;22(3):341-3

Department of Pediatric Neurology, Inönü University Faculty of Medicine, Malatya, Turkey.

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http://dx.doi.org/10.1177/0883073807300533DOI Listing
March 2007

Serial casting of the ankles in Duchenne muscular dystrophy: can it be an alternative to surgery?

Neuromuscul Disord 2007 Mar 15;17(3):227-30. Epub 2007 Feb 15.

Department of Physiotherapy, Hammersmith Hospital, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2006.12.002DOI Listing
March 2007

Neurologic outcome in patients with MRI pattern of damage typical for neonatal hypoglycemia.

Brain Dev 2007 Jun 8;29(5):285-92. Epub 2006 Dec 8.

Department of Pediatrics, Section of Pediatric Neurology, Hacettepe University Medical Faculty, Ihsan Doğramaci Children's Hospital, Sihhiye 06100, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.braindev.2006.09.011DOI Listing
June 2007

Answer to hypotonia: a simple hemogram.

J Child Neurol 2005 Nov;20(11):930-1

Department of Pediatrics Infectious Disease Unit, Hacettepe University School of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1177/08830738050200111501DOI Listing
November 2005

Calpain-3 mutations in Turkey.

Eur J Pediatr 2006 May 13;165(5):293-8. Epub 2006 Jan 13.

Faculty of Medicine, Department of Medical Biology, Hacettepe University, 6th floor, (06100), Sihhiye, Ankara, Turkey.

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http://dx.doi.org/10.1007/s00431-005-0046-3DOI Listing
May 2006

L-2-hydroxyglutaric aciduria: a report of 29 patients.

Turk J Pediatr 2005 Jan-Mar;47(1):1-7

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

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June 2005

Glycosylation defects in muscular dystrophies.

Curr Opin Neurol 2004 Oct;17(5):521-7

Department of Child Neurology, Hacettepe Children's Hospital, 06100 Ankara, Turkey.

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http://dx.doi.org/10.1097/00019052-200410000-00002DOI Listing
October 2004

Effect of topiramate on enlargement of head in Canavan disease: a new option for treatment of megalencephaly.

Turk J Pediatr 2004 Jan-Mar;46(1):67-71

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

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June 2004

Mutation analysis of TSC2 gene in 33 Turkish familial cases with tuberous sclerosis.

Turk J Pediatr 2003 Jan-Mar;45(1):1-5

Department of Pediatric Neurology, Hacettepe University Faculty of Medicine, Social Security Children's Hospital, Ankara, Turkey.

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May 2003

Gender prevalence in childhood multiple sclerosis and myasthenia gravis.

J Child Neurol 2002 May;17(5):390-2

Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1177/088307380201700516DOI Listing
May 2002