Hakkında
Ankara'da doğdu. Hacettepe Üniversitesi Tıp Fakültesini (İngilizce Tıp) bitirdikten sonra aynı üniversitede çocuk sağlığı ve hastalıkları uzmanlık eğitimini tamamladı. Halen çalışmalarına burada devam etmektedir.
Eğitim
- 1998Çocuk Sağlığı ve Hastalıkları
- 1993Tıp FakültesiHacettepe Üniversitesi
- 1987Ankara Atatürk Anadolu Lisesi
Uzmanlık Alanları
Yayınlar
Kaynak: Hacettepe Üniversitesi Akademik Veri Yönetim Sistemi (AVESİS) · Tüm yayınlar (100) ↗
Makaleler 71
- Muscle Biopsy as a Decisive Tool in a Pediatric Case with Overlapping Genetic Findings for McArdle Disease and Dystrophinopathy Muskelbiopsie als entscheidendes Instrument in einem pädiatrischen Fall mit überlappenden genetischen Befunden für Morbus McArdle und DystrophinopathieKlinische Padiatrie, cilt.238, sa.5, ss.288-291, 2026 (SCI-Expanded, Scopus)
- Can Prolonged Ischemia Time in Extremity Transfer Be Resolved Using an Extracorporeal Circulation Model? An Experimental StudyAnnals of Plastic Surgery, cilt.Publish Ahead of Print, 2026 (SCI-Expanded, Scopus)
- A Founder Allele in SGCG Combining Missense Variant and Multi-Exon Duplication in Turkish Patients With SarcoglycanopathyClinical Genetics, cilt.109, sa.2, ss.294-304, 2026 (SCI-Expanded, Scopus)
- Neurogenic arthrogryposis, hypotonia, dysmorphic features plus malformation of cortical development further expands the ARL6IP1 loss-of-function phenotypeNEUROMUSCULAR DISORDERS, cilt.48, 2025 (SCI-Expanded, Scopus)
- Anti-SRP myositis: a diagnostic and therapeutic challengeTURKISH JOURNAL OF PEDIATRICS, cilt.66, sa.6, ss.792-800, 2024 (SCI-Expanded, Scopus, TRDizin)
- Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR MyopathyJOURNAL OF NEUROMUSCULAR DISEASES, cilt.11, sa.4, ss.883-887, 2024 (SCI-Expanded, Scopus)
- Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemiaBRAIN, cilt.147, sa.7, 2024 (SCI-Expanded, Scopus)
- Mimicking TGFBI Hot-Spot Mutation Did Not Result in Any Deposit Formation in the Zebrafish CorneaCurrent Eye Research, cilt.49, sa.5, ss.458-466, 2024 (SCI-Expanded, Scopus)
- Early-onset juvenile dermatomyositis: A tertiary referral center experience and review of the literatureSeminars in Arthritis and Rheumatism, cilt.58, 2023 (SCI-Expanded, Scopus)
- A Child with Refractory and Relapsing Anti-3-Hydroxy-3-Methylglutaryl-Coenzyme A Reductase Myopathy: Case-Based ReviewJournal of neuromuscular diseases, cilt.10, sa.2, ss.279-291, 2023 (SCI-Expanded, Scopus)
- Alterations in insulin-like growth factor system in spinal muscular atrophyMUSCLE & NERVE, cilt.66, sa.5, ss.631-638, 2022 (SCI-Expanded, Scopus)
- Could TGFBI-related corneal dystrophies be mimicked in zebrafish via CRISPR/Cas9-mediated hot spot arginine variations?EUROPEAN JOURNAL OF HUMAN GENETICS, cilt.30, sa.SUPPL 1, ss.140, 2022 (SCI-Expanded, Scopus)
- A Rare Pediatric Case of Severe Rhabdomyolysis Owing to Dual InfectionKLINISCHE PADIATRIE, cilt.234, sa.02, ss.119-122, 2022 (SCI-Expanded, Scopus)
- A novel bi-allelic variant in the SDHB gene causes a severe mitochondrial complex II deficiency: a case reportCLINICAL NEUROLOGY AND NEUROSURGERY, cilt.212, 2022 (SCI-Expanded, Scopus)
- Reduced mitochondrial fission and impaired energy metabolism in human primary skeletal muscle cells of Megaconial Congenital Muscular DystrophySCIENTIFIC REPORTS, cilt.11, sa.1, 2021 (SCI-Expanded, Scopus)
- Diagnostic yield of muscle biopsy in infants: Retrospective analysis of clinical and histopathologic findingsCLINICAL NEUROPATHOLOGY, cilt.40, sa.5, ss.286-291, 2021 (SCI-Expanded, Scopus)
- Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathyAMERICAN JOURNAL OF HUMAN GENETICS, cilt.108, sa.7, ss.1301-1317, 2021 (SCI-Expanded, Scopus)
- Clinical and genetic characterization of PYROXD1-related myopathy patients from TurkeyAMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.185, sa.6, ss.1678-1690, 2021 (SCI-Expanded, Scopus)
- Milk of calcium: A rare manifestation of juvenile dermatomyositisARCHIVES OF RHEUMATOLOGY, cilt.36, sa.2, ss.302-304, 2021 (SCI-Expanded, Scopus, TRDizin)
- Validation of the EULAR/ACR 2017 idiopathic inflammatory myopathy classification criteria in juvenile dermatomyositis patients.Clinical and experimental rheumatology, cilt.39, ss.688-694, 2021 (SCI-Expanded, Scopus)
- Knockout of zebrafish desmin genes does not cause skeletal muscle degeneration but alters calcium flux.Scientific reports, cilt.11, sa.1, ss.7505, 2021 (SCI-Expanded, Scopus)
- Clinical features, muscle biopsy scores, myositis specific antibody profiles and outcome in juvenile dermatomyositis.Seminars in arthritis and rheumatism, cilt.51, ss.95-100, 2020 (SCI-Expanded, Scopus)
- Inflammatory milieu of muscle biopsies in juvenile dermatomyositis.Rheumatology international, 2020 (SCI-Expanded, Scopus)
- The Common miRNA Signatures Associated with Mitochondrial Dysfunction in Different Muscular DystrophiesAMERICAN JOURNAL OF PATHOLOGY, cilt.190, sa.10, ss.2136-2145, 2020 (SCI-Expanded, Scopus)
- Circulating Epstein-Barr virus DNA and cell-free DNA in pediatric lymphomasTURKISH JOURNAL OF PEDIATRICS, cilt.62, sa.4, ss.541-550, 2020 (SCI-Expanded, Scopus, TRDizin)
- Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase DeficiencyPEDIATRIC NEUROLOGY, cilt.99, ss.69-75, 2019 (SCI-Expanded, Scopus)
- Nemaline rod myopathy treated with L-tyrosine to relieve symptoms in a neonateARCHIVOS ARGENTINOS DE PEDIATRIA, cilt.117, sa.4, 2019 (SCI-Expanded, Scopus)
- Do not Miss Rare and Treatable Cause of Early-Onset Hemolytic Uremic Syndrome: Cobalamin C DeficiencyNEPHRON, cilt.142, sa.3, ss.258-263, 2019 (SCI-Expanded, Scopus)
- Bi-allelic mutations in MYL1 cause a severe congenital myopathyHUMAN MOLECULAR GENETICS, cilt.27, sa.24, ss.4263-4272, 2018 (SCI-Expanded, Scopus)
- LARGE expression in different types of muscular dystrophies other than dystroglycanopathyBMC NEUROLOGY, cilt.18, 2018 (SCI-Expanded, Scopus)
- Prenatal Diagnosis of Merosin-Deficient Muscular DystrophyFETAL AND PEDIATRIC PATHOLOGY, cilt.37, sa.6, ss.418-423, 2018 (SCI-Expanded, Scopus)
- A Case of Acute Bilateral Ptosis: SURF-1 MutationTURKISH JOURNAL OF NEUROLOGY, cilt.24, sa.1, ss.83-85, 2018 (ESCI, Scopus, TRDizin)
- Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter studyNEUROMUSCULAR DISORDERS, cilt.27, sa.10, ss.923-930, 2017 (SCI-Expanded, Scopus)
- Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defectsJOURNAL OF HUMAN GENETICS, cilt.62, sa.4, ss.497-501, 2017 (SCI-Expanded, Scopus)
- Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutationNEUROMUSCULAR DISORDERS, cilt.27, sa.3, ss.239-242, 2017 (SCI-Expanded, Scopus)
- Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar DisorganizationAMERICAN JOURNAL OF HUMAN GENETICS, cilt.99, sa.5, ss.1086-1105, 2016 (SCI-Expanded, Scopus)
- Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain DeficiencyAMERICAN JOURNAL OF HUMAN GENETICS, cilt.98, sa.6, ss.1130-1145, 2016 (SCI-Expanded, Scopus)
- Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthORPHANET JOURNAL OF RARE DISEASES, cilt.10, 2015 (SCI-Expanded, Scopus)
- Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patientsJOURNAL OF INHERITED METABOLIC DISEASE, cilt.38, sa.6, ss.1099-1108, 2015 (SCI-Expanded, Scopus)
- Promotion of experimental autoimmune encephalomyelitis upon neutrophil granulocytes' stimulation with formyl-methionyl-leucyl-phenylalanine (fMLP) peptideAUTOIMMUNITY, cilt.48, sa.6, ss.423-428, 2015 (SCI-Expanded, Scopus)
- SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated CardiomyopathyAMERICAN JOURNAL OF HUMAN GENETICS, cilt.95, sa.2, ss.218-226, 2014 (SCI-Expanded, Scopus)
- Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: A novel gene related to nuclear envelopathiesNEUROMUSCULAR DISORDERS, cilt.24, sa.7, ss.624-633, 2014 (SCI-Expanded, Scopus)
- Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex DeficienciesJAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, cilt.312, sa.1, ss.68-77, 2014 (SCI-Expanded, Scopus)
- Recessive TTN truncating mutations define novel forms of core myopathy with heart diseaseHUMAN MOLECULAR GENETICS, cilt.23, sa.4, ss.980-991, 2014 (SCI-Expanded, Scopus)
- Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline MyopathyAMERICAN JOURNAL OF HUMAN GENETICS, cilt.93, sa.1, ss.6-18, 2013 (SCI-Expanded, Scopus)
- A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathiesJOURNAL OF MEDICAL GENETICS, cilt.50, sa.7, ss.437-443, 2013 (SCI-Expanded, Scopus)
- Apoptosis in subacute sclerosing panencephalitis: Possibility for treatmentMEDICAL HYPOTHESES, cilt.80, sa.4, ss.507-508, 2013 (SCI-Expanded, Scopus)
- Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutationBRAIN, cilt.136, 2013 (SCI-Expanded, Scopus)
- Coexistence of two distinct intragenic dystrophin deletions in two maternal cousins with Duchenne Muscular DystrophyNEUROMUSCULAR DISORDERS, cilt.23, sa.1, ss.15-18, 2013 (SCI-Expanded, Scopus)
- Early corticosteroid treatment in 4 duchenne muscular dystrophy patients: 14-year follow-upMUSCLE & NERVE, cilt.45, sa.6, ss.796-802, 2012 (SCI-Expanded, Scopus)
- BRIEF REPORT A Dystroglycan Mutation Associated with Limb-Girdle Muscular DystrophyNEW ENGLAND JOURNAL OF MEDICINE, cilt.364, sa.10, ss.939-946, 2011 (SCI-Expanded, Scopus)
- Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiencyBRAIN, cilt.134, ss.183-195, 2011 (SCI-Expanded, Scopus)
- Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular DystrophyAMERICAN JOURNAL OF HUMAN GENETICS, cilt.87, sa.6, ss.834-841, 2010 (SCI-Expanded, Scopus)
- An unusual presentation of Muscle-Eye-Brain disease: Severe eye abnormalities with mild muscle and brain involvementNEUROMUSCULAR DISORDERS, cilt.19, sa.10, ss.692-695, 2009 (SCI-Expanded, Scopus)
- A Comparative Study of alpha-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of alpha-Dystroglycan Does Not Consistently Correlate with Clinical SeverityBRAIN PATHOLOGY, cilt.19, sa.4, ss.596-611, 2009 (SCI-Expanded, Scopus)
- Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish originEUROPEAN JOURNAL OF HUMAN GENETICS, cilt.16, sa.9, ss.1055-1061, 2008 (SCI-Expanded, Scopus)
- Lissencephaly type IIMALFORMATIONS OF THE NERVOUS SYSTEM, cilt.87, ss.219-234, 2008 (SCI-Expanded, Scopus)
- The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) geneBRAIN, cilt.130, ss.2037-2044, 2007 (SCI-Expanded, Scopus)
- Prenatal diagnosis of muscle-eye-brain diseasePRENATAL DIAGNOSIS, cilt.27, sa.1, ss.51-54, 2007 (SCI-Expanded, Scopus)
- Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunitAMERICAN JOURNAL OF HUMAN GENETICS, cilt.79, sa.2, ss.303-312, 2006 (SCI-Expanded, Scopus)
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 29
- Limb-Girdle Muscular Dystrophy 2R modelling in zebrafishto determine a novel mechanism related to desmin-lamin B interactionKeystone Symposia, 11 - 15 Kasım 2018, (Özet Bildiri)
- Desmin Mutation with an ultra rare and unique phenotype: Genome editing for a patient specific zebrafish modelkeystone symposia Rare and Undiagnosed Diseases, Massachusetts, Amerika Birleşik Devletleri, 3 - 05 Ağustos 2017, (Özet Bildiri)
- Modeling of a unique desmin mutaion in zebrafish by using genome editing brings new insights into desmin functionEuropean Human Genetics Conference, 27 - 30 Mayıs 2017, (Özet Bildiri)
- Modeling of a unique desmin mutation in zebrafish by using genome editing brings new insights into desmin functionESHG 2017, 27 - 30 Mayıs 2017, (Özet Bildiri)
- The profile and natural history of congenital muscular dystrophies21st International Congress of the World-Muscle-Society, Granada, Nikaragua, 4 - 08 Ekim 2016, cilt.26, (Özet Bildiri)
- Prenatal findings and autopsy examination in a newborn with multipleacyl CoA dehydrogenase deficiencySSIEM ROMA, 6 - 09 Eylül 2016, (Özet Bildiri)
- Skeletal muscle expression of insulin like growth factor system elements in spinal muscular atrophy patients5th International Congress of Myology, Lyon, Fransa, 14 - 18 Mart 2016, (Özet Bildiri)
- Glutarik Asidemi Tip 2 Dismorfolojik İpuçları Veren Metabolik Bir Hastalık3. Nörometabolik Dismorfoloji Sempozyumu, Türkiye, 10 - 12 Mart 2016, (Tam Metin Bildiri)
- Spinal müsküler atrofi hastalarının iskelet kasında insülin benzeri büyüme faktörleri ve bağlayıcı protein düzeylerinin araştırılmasıXIV. Ulusal Tibbi Biyoloji ve Genetik Kongresi, Muğla, Türkiye, 27 - 30 Ekim 2015, (Yayınlanmadı)
- Çekirdek zarfı hastalıkları ile ilişkili yeni bir gen: TOR1AIP1 ve kas distrofisi14. Ulusal Tıbbi Biyoloji ve Genetik Kongresi, Muğla, Türkiye, 27 Ekim 2015, (Yayınlanmadı)
- Inflammatory milieu of muscle biopsies and clinical features in juvenile dermatomyositis20th International Congress of the World-Muscle-Society, Brighton, Birleşik Krallık, 30 Eylül - 04 Ekim 2015, cilt.25, (Özet Bildiri)
- Etiological yield of muscle biopsy in the newborn period20th International Congress of the World-Muscle-Society, Brighton, Birleşik Krallık, 30 Eylül - 04 Ekim 2015, cilt.25, (Özet Bildiri)
- Spinal müsküler atrofi hastalarının iskeletkasında insulin benzeri büyüme faktörleri ve bağlayıcı protein düzeylerinin araştırılmasıXIV. Ulusal Tıbbi Biyoloji ve Genetik kongresi, Fethiye, Türkiye, 27 Ekim 2015 - 30 Ekim 2014, (Özet Bildiri)
- Torsin A-interacting protein 1/Lamina-associated polypeptide 1B in a form of limb-girdle muscular dystrophy: a novel gene related to nuclear envelopathies18. International Meeting of the World Muscle Society, California, Amerika Birleşik Devletleri, 05 Ekim 2013, ss.64, (Özet Bildiri)
- A novel desmin mutation causes autosomal recessive limb girdle muscular dystrophy without features of myofibrillar myopathy18th International Congress of the World-Muscle-Society (WMS), California, Amerika Birleşik Devletleri, 1 - 05 Ekim 2013, cilt.23, ss.851-852, (Özet Bildiri)
- Formyl-methionyl-leucyl-phenylalanine (fMLP) peptide as an adjuvant in experimental autoimmune encephalomyelitis (EAE): modulation of neutrophil granulocytes29th Congress of the European-Committee-for-Treatment-and-Research-in-Multiple-Sclerosis / 18th Annual Conference of Rehabilitation in MS, Copenhagen, Danimarka, 2 - 05 Ekim 2013, cilt.19, ss.136, (Özet Bildiri)
- The first prenatal diagnosis in Muscle-Eye-Brain Disease11th International Congress on Neuromuscular Diseases, İstanbul, Türkiye, 2 - 07 Temmuz 2006, cilt.16, (Özet Bildiri)
- Autosomal recessive limb-girdle muscular dystrophies (LGMD2s) in Turkey11th International Congress on Neuromuscular Diseases, İstanbul, Türkiye, 2 - 07 Temmuz 2006, cilt.16, (Özet Bildiri)
- Marinesco-Sjogren Syndrome and olivopontocerebellar hypoplasia with BAP/SIL mutations: report of a family with three siblings11th International Congress on Neuromuscular Diseases, İstanbul, Türkiye, 2 - 07 Temmuz 2006, cilt.16, (Özet Bildiri)
- Prenatal diagnosis in laminin alpha-2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of 5 international centers10th International Congress of the World-Muscle-Society, Iguassu Falls, Brezilya, 28 Eylül - 10 Ekim 2005, cilt.15, ss.704, (Özet Bildiri)
- EUROSMART: motor function and muscle strength in 110 patients with spinal muscular atrophy10th International Congress of the World-Muscle-Society, Iguassu Falls, Brezilya, 28 Eylül - 10 Ekim 2005, cilt.15, ss.724, (Özet Bildiri)
- Focal segmental glomerulosclerosis associated with mitochondrial cytopathy: Report of two cases with special emphasis on podocytes42nd Annual Meeting of the European-Renal-Association/European-Dialysis-and-Transplant-Association (ERA-EDTA), İstanbul, Türkiye, 4 - 07 Haziran 2005, cilt.20, (Özet Bildiri)
- A floppy infant with nemaline rods and plus9th International Congress of the World-Muscle-Society, Goteborg, İsveç, 1 - 04 Eylül 2004, cilt.14, ss.564-565, (Özet Bildiri)
- Muscle pathology in childhood cases of calpainopathy9th International Congress of the World-Muscle-Society, Goteborg, İsveç, 1 - 04 Eylül 2004, cilt.14, ss.605, (Özet Bildiri)
- Apoptosis in Ullrich congenital muscular dystrophy9th International Congress of the World-Muscle-Society, Goteborg, İsveç, 1 - 04 Eylül 2004, cilt.14, ss.615, (Özet Bildiri)
- Autosomal recessive limb-girdle muscular dystrophy with severe mental retardation: a new phenotype with glycosylation defects of alpha-dystroglycan7th International Congress of the World-Muscle-Society, Rotterdam, Hollanda, 2 - 05 Ekim 2002, cilt.12, ss.721, (Özet Bildiri)
- Validation of the Eular/ACR 2017 idiopathic inflammatory myopathy classification criteria in JDM patients
- Disease Modeling in Zebrafish: Limb-Girdle MuscularDystrophy 2R
- JÜVENİL DERMATOMİYOZİT HASTALARININ KAS BİYOPSİLERİNDE YARDIMCI T HÜCRE PROFİLLERİ
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