Publications by authors named "Haluk Topaloğlu"

100Publications

Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations.

Am J Med Genet A 2020 Nov 5. Epub 2020 Nov 5.

Faculty of Medicine and the Faculty of Mathematics and Natural Sciences, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1002/ajmg.a.61951DOI Listing
November 2020

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

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

Ann Clin Transl Neurol 2020 11 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

The clinical, histologic, and genotypic spectrum of -related myopathy: A case series.

Neurology 2020 09 13;95(11):e1512-e1527. Epub 2020 Aug 13.

From the Basic and Translational Myology Lab (R.N.V.-Q., V.G., A.F.), UMR8251, Université de Paris/CNRS; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France (R.N.V.-Q., B. Eymard, N.B.R., A.F.) and Neuromuscular Morphology Unit (N.B.R., M.F.), Institut de Myologie, Pitié-Salpêtrière Hospital, AP-HP, Paris, France; Department of Paediatric Neurology (M.v.d.H.), Medinzinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Germany; AP-HP (C.M., P.R.), Centre de Génétique Moléculaire et Chromosomique, UF Cardiogénétique et Myogénétique Moléculaire et Cellulaire, GH Pitié-Salpêtrière, Paris; Department of Neurology (V.G.), University Hospital of Montpellier, France; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Unit of Neuromuscular and Neurodegenerative Disorders (E.B.), Bambino Gesu' Children's Research Hospital, Rome, Italy; Departamento de Neurología Pediátrica (C.C.), Clínica Las Condes, Santiago, Chile; Paediatrics Department (D.C.), Hôpital de Hautepierre, Strasbourg, France; Neuromuscular Unit (J.C.), Neuropaediatrics Department, Institut de Recerca Hospital Universitari Sant Joan de Deu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER) (J.C.), ISCIII; Department of Neurology (M.L.C.), Hospital Clínico San Carlos, Instituto de Investigación Sanitaria San Carlos; Department of Medicine (M.L.C.), Universidad Complutense de Madrid, Spain; Department of Neurology (M.d.V.), Amsterdam University Medical Centre, Amsterdam Neuroscience, the Netherlands; Department of Pediatric Neurology (I.D.), Necker Enfants Malades Hospital, Paris Descartes University, France; Department of Child Neurology (N.G.), University Hospitals Leuven, Belgium; Department of Pediatric Neurology (A.K.), Center for Chronically Sick Children, Institute of Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, Germany; Department of Neuropediatrics (E.L.), CHRU de Tours, Université François Rabelais de Tours, UMR INSERM U1253, Tours, France; Department of Neuropediatrics (J.L.), University Children's Hospital of Basel (UKBB), Switzerland; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France (E.M.), Neurology Department, Raymond-Poincaré Hospital, AP-HP, Garches; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France (M.M.), Service de Neuropédiatrie, Hôpital Trousseau, Paris, France; Department of Biomedical and Neuromotor Sciences (L.M.), University of Bologna, Italy; Réanimation Médicale, Physiologie-Explorations Fonctionnelles et Centre d'Investigation Clinique, UMR 1429 (D.O.), INSERM-UMR, 1179, UVSQ (D.O.), and Neuromuscular Unit, Department of Pediatric Neurology, Intensive Care and Rehabilitation, AP-HP, UVSQ Paris Saclay (B. Estournet, S.Q.-R.), Hôpital Raymond Poincaré, Garches, France; Department of Neurology (U.R.), Medizinische Fakultät Carl Gustav Carus Technische Universität Dresden, German; Division of Pediatric Neurology, Department of Pediatrics (M.A.S.), College of Medicine, King Saud University, Riyadh, Saudi Arabia; Friedrich-Baur-Institut (B.S.-W.), Department of Neurology, Ludwig-Maximilians-University of Munich; Department of Pediatric Neurology (M.S.), University of Tübingen, Germany; The John Walton Muscular Dystrophy Research Centre (V.S.), Institute of Genetic Medicine, Newcastle University, Newcastle Hospitals NHS Foundation Trust, UK; Department of Child Neurology (H.T.), Hacettepe University, School of Medicine, Ankara, Turkey; Centre de Compétence Neuromusculaire (J.A.U.), Hôpital Marin, Hendaye, France; Department of Neurology (A.v.d.K.), Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, the Netherlands; Pediatrics and Adolescent Medicine, Division of Pediatric Neurology (E.W.), University Medical Center Göttingen, Georg-August University Göttingen, Germany; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; and Department of Pediatric Neurology (U.S.), Developmental Neurology and Social Pediatrics, University of Essen, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000010327DOI Listing
September 2020

The Common miRNA Signatures Associated with Mitochondrial Dysfunction in Different Muscular Dystrophies.

Am J Pathol 2020 10 7;190(10):2136-2145. Epub 2020 Jul 7.

Department of Medical Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.ajpath.2020.06.011DOI Listing
October 2020

Spinal muscular atrophy: Nature or nurture?

Neurology 2020 07 8;95(1):11-12. Epub 2020 Jun 8.

From the Hacettepe Children's Hospital (H.T.), Ankara, Turkey; and Ann and Robert H. Lurie Children's Hospital (N.K.), Chicago, IL. H.T. is currently at the Department of Pediatrics, Yeditepe University, İstanbul, Turkey.

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http://dx.doi.org/10.1212/WNL.0000000000009716DOI Listing
July 2020

Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature.

Acta Neurol Belg 2020 Mar 13. Epub 2020 Mar 13.

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

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http://dx.doi.org/10.1007/s13760-020-01328-zDOI Listing
March 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

The association between trunk control and upper limb functions of children with Duchenne muscular dystrophy.

Physiother Theory Pract 2020 Feb 4:1-9. Epub 2020 Feb 4.

Faculty of Physical Therapy and Rehabilitation, Hacettepe University, Altındağ, Ankara, Turkey.

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http://dx.doi.org/10.1080/09593985.2020.1723151DOI Listing
February 2020

ATP8A2-related disorders as recessive cerebellar ataxia.

J Neurol 2020 Jan 14;267(1):203-213. Epub 2019 Oct 14.

Laboratoire de Génétique de Maladies Rares EA7402, Institut Universitaire de Recherche Clinique, Université de Montpellier, CHU Montpellier, 640 av. Doyen G. Giraud CEDEX 5, 34295, Montpellier, France.

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http://dx.doi.org/10.1007/s00415-019-09579-4DOI Listing
January 2020

Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel.

Brain Dev 2020 Jan 4;42(1):6-18. Epub 2019 Sep 4.

Hacettepe University, School of Medicine, Department of Child Neurology, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.braindev.2019.08.004DOI Listing
January 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

Nesprinopathy: A multi-faceted genetic disorder.

Eur J Paediatr Neurol 2019 03;23(2):231

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

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https://linkinghub.elsevier.com/retrieve/pii/S10903798193006
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http://dx.doi.org/10.1016/j.ejpn.2019.02.011DOI Listing
March 2019

Fractures and bone health in Duchenne muscular dystrophy in Scotland.

Authors:
Haluk Topaloğlu

Neuromuscul Disord 2019 04 17;29(4):341. Epub 2018 Nov 17.

Hacettepe Children's Hospital, 06100 Ankara, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.11.005DOI Listing
April 2019

Neuromuscular disorders in Anatolia - A personal review.

Authors:
Haluk Topaloğlu

Neuromuscul Disord 2019 02 28;29(2):152-156. Epub 2018 Dec 28.

Hacettepe Children's Hospital, 06100 Ankara, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.12.014DOI Listing
February 2019

Uncontrolled inflammation of the nervous system: Inherited CD59 deficiency.

Neurol Clin Pract 2018 Oct;8(5):e18-e20

Department of Pediatric Neurology (DY) and Pediatric Intensive Care Unit (EA, SK), University of Health Sciences, Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital; Departments of Radiology (KKO) and Pediatric Neurology (BK, HT), Faculty of Medicine, Hacettepe University; and Ankara Numune Training and Research Hospital (BC), Genetic Diseases Diagnosis Center, Ankara, Turkey.

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http://dx.doi.org/10.1212/CPJ.0000000000000511DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276337PMC
October 2018

Mystery Case: Pontine tegmental cap dysplasia in a neonate.

Neurology 2018 11;91(22):e2100-e2101

From the Departments of Pediatric Neurology (N.B., M.T., H.T.) and Pediatric Genetics (P.O.S.-K.), Hacettepe University Ihsan Dogramaci Children's Hospital; and Department of Radiology (S.P.), Hacettepe University Hospitals, Ankara, Turkey.

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http://dx.doi.org/10.1212/WNL.0000000000006578DOI Listing
November 2018

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

Prenatal Diagnosis of Merosin-Deficient Muscular Dystrophy.

Fetal Pediatr Pathol 2018 Dec 25;37(6):418-423. Epub 2018 Oct 25.

a Division of Perinatology , Department of Obstetrics and Gynecology , Ankara , Turkey.

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http://dx.doi.org/10.1080/15513815.2018.1520944DOI Listing
December 2018

Assessment of Neurologic Disorders and Rare Intracranial Anomalies Associated With Cleft Lip and Palate.

J Craniofac Surg 2018 Nov;29(8):2195-2197

Department of Plastic, Reconstructive and Aesthetic Surgery and Hacettepe Cleft and Craniofacial Center.

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http://Insights.ovid.com/crossref?an=00001665-900000000-9531
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http://dx.doi.org/10.1097/SCS.0000000000004848DOI Listing
November 2018

Neurologic Involvement in Primary Immunodeficiency Disorders.

J Child Neurol 2018 04 8;33(5):320-328. Epub 2018 Feb 8.

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

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http://dx.doi.org/10.1177/0883073817754176DOI Listing
April 2018

Effects of Arm Cycling Exercise in Spinal Muscular Atrophy Type II Patients: A Pilot Study.

J Child Neurol 2018 03 12;33(3):209-215. Epub 2018 Jan 12.

1 Faculty of Medicine, Department of Medical Biology, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1177/0883073817750500DOI Listing
March 2018

Electroencephalographic findings in anti-N-methyl-d-aspartate receptor encephalitis in children: A series of 12 patients.

Epilepsy Behav 2018 01 25;78:118-123. Epub 2017 Nov 25.

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

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http://dx.doi.org/10.1016/j.yebeh.2017.09.022DOI Listing
January 2018

Clinical presentation of anti-N-methyl-d-aspartate receptor and anti-voltage-gated potassium channel complex antibodies in children: A series of 24 cases.

Eur J Paediatr Neurol 2018 Jan 7;22(1):135-142. Epub 2017 Nov 7.

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

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http://dx.doi.org/10.1016/j.ejpn.2017.10.009DOI Listing
January 2018

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.

N Engl J Med 2017 11;377(18):1723-1732

From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).

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http://www.nejm.org/doi/10.1056/NEJMoa1702752
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http://dx.doi.org/10.1056/NEJMoa1702752DOI Listing
November 2017

A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy.

Neurology 2017 Oct 29;89(17):1811-1820. Epub 2017 Sep 29.

From the Cedars-Sinai Medical Center (R.G.V.), Los Angeles, CA; University of Florida (H.L.S., B.B., K.V.), Gainesville; Nemours Children's Hospital (R.F.), Orlando, FL; University of California at Davis (C.M.M.), Sacramento; Newcastle University (M.E.), Newcastle Upon Tyne, UK; University Hospitals Leuven (N.G.), Belgium; Instituto de Neurociencias-Fundacion Favaloro (A.L.D.), Buenos Aires, Argentina; Hacettepe University School of Medicine (H.T.), Ankara, Turkey; UCLA (M.C.M., R.E.), Los Angeles, CA; Parent Project Muscular Dystrophy (P.F.), Hackensack, NJ; Eli Lilly Canada, Eli Lilly and Company, Toronto, ON (J.L.); and Eli Lilly and Company (D.C.), Indianapolis, IN.

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http://dx.doi.org/10.1212/WNL.0000000000004570DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664308PMC
October 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

Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study.

Neuromuscul Disord 2017 Oct 1;27(10):923-930. Epub 2017 Jun 1.

Department of Internal Medicine, Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey.

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http://dx.doi.org/10.1016/j.nmd.2017.05.015DOI Listing
October 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

Childhood hereditary ataxias: experience from a tertiary referral university hospital in Turkey.

Acta Neurol Belg 2017 Dec 29;117(4):857-865. Epub 2017 Apr 29.

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

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http://dx.doi.org/10.1007/s13760-017-0786-7DOI Listing
December 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

A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop.

J Clin Neuromuscul Dis 2017 Mar;18(3):147-151

*Pediatric Neurology Unit, Hacettepe University School of Medicine, Ankara, Turkey; and †Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA.

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http://dx.doi.org/10.1097/CND.0000000000000132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5436270PMC
March 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

Spinal muscular atrophy associated with progressive myoclonus epilepsy.

Epileptic Disord 2016 Sep;18(S2):128-134

Unité mixte de recherche (UMR)-1169, Inserm and University Paris Sud, Le Kremlin Bicêtre, France.

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http://dx.doi.org/10.1684/epd.2016.0858DOI Listing
September 2016

Transcript levels of plastin 3 and neuritin 1 modifier genes in spinal muscular atrophy siblings.

Pediatr Int 2017 Jan 31;59(1):53-56. Epub 2016 Aug 31.

Department of Medical Biology, Faculty of Medicine, Hacettepe University, Sihhiye, Ankara, Turkey.

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http://doi.wiley.com/10.1111/ped.13052
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http://dx.doi.org/10.1111/ped.13052DOI Listing
January 2017

Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4.

Eur J Med Genet 2016 Jun 7;59(6-7):320-4. Epub 2016 May 7.

Division of Nutrition and Metabolic Diseases, Center for Human Nutrition, Department of Internal Medicine, UT Southwestern Medical Center at Dallas, Dallas, TX, USA.

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http://dx.doi.org/10.1016/j.ejmg.2016.05.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7605892PMC
June 2016

Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.

J Clin Endocrinol Metab 2016 07 4;101(7):2759-67. Epub 2016 May 4.

Department of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.

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http://dx.doi.org/10.1210/jc.2016-1005DOI Listing
July 2016

Turkish version of the Egen Klassifikation scale version 2: validity and reliability in the Turkish population.

Turk J Pediatr 2014 Nov-Dec;56(6):643-50

Department of Physiotherapy and Rehabilitation, Faculty of Health Sciences, Bezmialem Vakıf University, İstanbul, Turkey.

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March 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

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

Different types of upper extremity exercise training in Duchenne muscular dystrophy: effects on functional performance, strength, endurance, and ambulation.

Muscle Nerve 2015 May 5;51(5):697-705. Epub 2015 Mar 5.

Faculty of Health Sciences, Physiotherapy and Rehabilitation Department, Bezmialem Vakıf University, Fatih, Istanbul, Turkey.

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http://doi.wiley.com/10.1002/mus.24451
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http://dx.doi.org/10.1002/mus.24451DOI Listing
May 2015

Effect of muscle weakness distribution on balance in neuromuscular disease.

Pediatr Int 2015 15;57(1):92-7. Epub 2014 Oct 15.

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

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http://dx.doi.org/10.1111/ped.12428DOI Listing
December 2016

Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies.

Neuromuscul Disord 2014 Jul 2;24(7):624-33. Epub 2014 May 2.

Department of Medical Biology, Hacettepe University, Faculty of Medicine, Sihhiye, 06100 Ankara, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2014.04.007DOI Listing
July 2014

Epidemiology of muscular dystrophies in the Mediterranean area.

Authors:
Haluk Topaloglu

Acta Myol 2013 Dec;32(3):138-41

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

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December 2013

Infantile anti-MuSK positive myasthenia gravis in a patient with autoimmune polyendocrinopathy type 3.

Eur J Paediatr Neurol 2014 Jul 12;18(4):526-8. Epub 2014 Mar 12.

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

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https://linkinghub.elsevier.com/retrieve/pii/S10903798140004
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http://dx.doi.org/10.1016/j.ejpn.2014.02.006DOI Listing
July 2014

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.

J Neurol 2014 Jan 27;261(1):152-63. Epub 2013 Oct 27.

MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK,

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http://link.springer.com/content/pdf/10.1007%2Fs00415-013-71
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http://www.rare-diseases.eu/wp-content/uploads/2013/08/41_t2
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http://link.springer.com/10.1007/s00415-013-7154-1
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January 2014

Treatment of a severe conversion disorder in a 10-year-old boy: a case study and overview.

Turk J Pediatr 2012 Jul-Aug;54(4):413-8

Department of Child and Adolescent Psychiatry, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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August 2013

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

Coexistence of two distinct intragenic dystrophin deletions in two maternal cousins with Duchenne Muscular Dystrophy.

Neuromuscul Disord 2013 Jan 15;23(1):15-8. Epub 2012 Sep 15.

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

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http://dx.doi.org/10.1016/j.nmd.2012.07.001DOI Listing
January 2013

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

A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome.

Turk J Pediatr 2011 Jan-Feb;53(1):79-82

Unit of Metabolism, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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June 2011

Best practice in Duchenne muscular dystrophy.

Authors:
Haluk Topaloglu

Neuromuscul Disord 2010 Mar 4;20(3):218; author reply 218-9. Epub 2010 Mar 4.

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March 2010

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

An unusual presentation of gastrointestinal obstruction in a three-year-old boy.

Turk J Pediatr 2009 Mar-Apr;51(2):195-8

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

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June 2009