Haluk Topaloglu

Haluk Topaloglu

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Haluk Topaloglu

Publications by authors named "Haluk Topaloglu"

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

Pediatr Neurol 2019 Oct 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

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

Brain Dev 2019 Sep 4. 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
September 2019

Fractures and bone health in Duchenne muscular dystrophy in Scotland.

Authors:
Haluk Topaloğlu

Neuromuscul Disord 2019 Apr 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

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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http://dx.doi.org/10.1016/j.ejpn.2019.02.011DOI Listing
March 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

Neuromuscular disorders in Anatolia - A personal review.

Authors:
Haluk Topaloğlu

Neuromuscul Disord 2019 Feb 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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
June 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

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

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

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

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

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

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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http://dx.doi.org/10.1007/s00415-013-7154-1DOI Listing
January 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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4006280PMC
December 2013

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

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://linkinghub.elsevier.com/retrieve/pii/S096089661200552
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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

Lissencephaly type II.

Handb Clin Neurol 2008 ;87:219-34

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

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http://dx.doi.org/10.1016/S0072-9752(07)87014-XDOI Listing
December 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

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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http://dx.doi.org/10.1016/j.nmd.2010.02.010DOI Listing
March 2010

Is oxidative damage in operation in patients with hereditary spastic paraparesis?

Brain Dev 2010 Feb 12;32(2):130-6. Epub 2009 Feb 12.

Department of Pediatric Neurology, Gazi University, Beşevler, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.braindev.2008.12.014DOI Listing
February 2010

Childhood optic neuritis: the pediatric neurologist's perspective.

Eur J Paediatr Neurol 2009 Sep 21;13(5):452-7. Epub 2008 Oct 21.

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

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http://dx.doi.org/10.1016/j.ejpn.2008.09.003DOI Listing
September 2009

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

Abnormal glycosylation of the alpha-dystroglycan: deficient sugars are no good.

Authors:
Haluk Topaloglu

Neurology 2009 May 25;72(21):1798-9. Epub 2009 Mar 25.

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http://dx.doi.org/10.1212/WNL.0b013e3181a4e451DOI Listing
May 2009

Lamotrigine in children with refractory epilepsy.

Turk J Pediatr 2008 Sep-Oct;50(5):426-31

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

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January 2009

Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin.

Eur J Hum Genet 2008 Sep 2;16(9):1055-61. Epub 2008 Apr 2.

Department of Medical Genetics, The Folkhälsan Institute of Genetics, University of Helsinki, Biomedicum Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1038/ejhg.2008.60DOI Listing
September 2008

A preliminary report on spinal muscular atrophy lymphoblastoid cell lines: are they an appropriate tool for drug screening?

Adv Ther 2008 Mar;25(3):274-9

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

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http://dx.doi.org/10.1007/s12325-008-0030-1DOI Listing
March 2008

Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.

Neuromuscul Disord 2008 Jan 14;18(1):45-51. Epub 2007 Sep 14.

Glycobiology Research Group, Tokyo Metropolitan Institute of Gerontology, Foundation for Research on Aging and Promotion of Human Welfare, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.nmd.2007.08.002DOI Listing
January 2008

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.

Neurogenetics 2007 Nov 29;8(4):279-88. Epub 2007 Sep 29.

Center for Human Genetics and Department of Human Genetics, University of Regensburg, Universitätklinikum D3, Franz-Josef-Strauss-Allee 11, Regensburg 93053, Germany.

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http://dx.doi.org/10.1007/s10048-007-0096-yDOI Listing
November 2007

A hypotonic infant with tachycardia and fever of unknown origin.

J Pediatr Health Care 2007 Mar-Apr;21(2):115-6, 136-8

Hacettepe University Faculty of Medicine, Department of Child Health and Diseases, Unit of Social Pediatrics, 06100 Ankara, Turkey.

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http://dx.doi.org/10.1016/j.pedhc.2006.08.003DOI Listing
May 2007