Metrikler
Yayın
88
Açık Erişim
24
BM Sürdürülebilir Kalkınma Amaçları
Makaleler
Tümü (73)
SCI-E, SSCI, AHCI (66)
SCI-E, SSCI, AHCI, ESCI (69)
ESCI (3)
Scopus (68)
TRDizin (8)
Diğer Yayınlar (3)
2024
20241. Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency
YILDIZ Y., Ardıçlı D., GÖÇMEN R., YALNIZOĞLU D., Topçu M., Coşkun T., et al.
European Journal of Paediatric Neurology
, cilt.49, ss.66-72, 2024 (SCI-Expanded, Scopus)
2024
20242. Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study
Cavusoglu D., Ozturk G., TÜRKDOĞAN D., HIZ A. S., YİŞ U., Komur M., et al.
Cerebellum
, 2024 (SCI-Expanded, Scopus)
2023
20233. Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis
Erdal A. E., Köylü O. K., CEYLAN A. C., KASAPKARA Ç. S., Tunçez E., TOPÇU M.
Molecular Syndromology
, cilt.15, sa.2, ss.130-135, 2023 (SCI-Expanded, Scopus)
2023
20234. Non-epileptic paroxysmal events at pediatric video-electroencephalography monitoring unit over a 15-year period
Yavuz P., GÜNBEY C., KARAHAN S., TOPÇU M., Turanli G., YALNIZOĞLU D.
Seizure
, cilt.108, ss.89-95, 2023 (SCI-Expanded, Scopus)
2023
20235. Pediatric cardiology consultation at long-term video EEG monitoring
GÜNBEY C., AYKAN H. H., KARAGÖZ T., TURANLI G., TOPÇU M., YALNIZOĞLU D.
Annals of Medical Research
, cilt.30, sa.1, ss.116-120, 2023 (TRDizin)
2022
20226. Myelin oligodendrocyte glycoprotein antibodies in genetic leukodystrophies
EROĞLU ERTUĞRUL N. G., Yousefi M., Pekguel F., Doran T., Guenbey C., TOPÇU M., et al.
JOURNAL OF NEUROIMMUNOLOGY
, cilt.369, 2022 (SCI-Expanded, Scopus)
2022
2022
7.
Lesional resective epilepsy surgery in childhood: Comparison of two decades and long-term seizure outcome from a single center
GÜNBEY C., BİLGİNER B., Oguz K. K., Soylemezoglu F., Ergun E. L., AKALAN N., et al.
EPILEPSY RESEARCH
, cilt.181, 2022 (SCI-Expanded, Scopus)
2021
20218. Glucose Transporter Type 1 Deficiency Syndrome: A Single-Center Case Series
Yildirim M., Babayigit O., ILGAZ F., YALNIZOĞLU D., TOPÇU M.
TURKISH JOURNAL OF NEUROLOGY
, cilt.27, sa.3, ss.343-346, 2021 (ESCI, Scopus, TRDizin)
2021
20219. The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice
Vural A., Simsir G., Tekgul S., Kocoglu C., Akcimen F., Kartal E., et al.
MOVEMENT DISORDERS
, cilt.36, ss.1676-1688, 2021 (SCI-Expanded, Scopus)
2021
202110. Unraveling neuronal ceroid lipofuscinosis type 2 (CLN2) disease: A tertiary center experience for determinants of diagnostic delay
ARDIÇLI D., Haliloglu G., GÖÇMEN R., GÜNBEY C., TOPÇU M.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
, cilt.33, ss.94-98, 2021 (SCI-Expanded, Scopus)
2021
202111. Management of CLN1 Disease: International Clinical Consensus
Augustine E. F., Adams H. R., de los Reyes E., Drago K., Frazier M., Guelbert N., et al.
PEDIATRIC NEUROLOGY
, cilt.120, ss.38-51, 2021 (SCI-Expanded, Scopus)
2020
202012. Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives
Pekgul F., Eroglu-Ertugrul N. G., Bekircan-Kurt C. E., Erdem-Ozdamar S., Cetinkaya A., Tan E., et al.
MOLECULAR GENETICS AND METABOLISM REPORTS
, cilt.25, 2020 (SCI-Expanded, Scopus)
2020
202013. Long-term effects of vagus nerve stimulation in refractory pediatric epilepsy: A single-center experience
YALNIZOĞLU D., ARDIÇLI D., BİLGİNER B., KONUŞKAN B., Oguz K. K., AKALAN N., et al.
EPILEPSY & BEHAVIOR
, cilt.110, 2020 (SCI-Expanded, Scopus)
2020
202014. The experience of allogeneic hematopoietic stem cell transplantation in a patient with X-linked adrenoleukodystrophy
Ciftciler R., GÖKER H., BÜYÜKAŞIK Y., TOPÇU M., Gevher N., DEMİROĞLU H.
TRANSFUSION AND APHERESIS SCIENCE
, cilt.59, sa.1, 2020 (SCI-Expanded, Scopus)
2020
202015. Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel
Arslan E. A., Oncel İ. H., Ceylan A. C., TOPÇU M., Topaloglu H.
BRAIN & DEVELOPMENT
, sa.1, ss.6-18, 2020 (SCI-Expanded, Scopus)
2019
201916. Prenatal enzymatic diagnosis of lysosomal storage diseases using cultured amniotic cells, uncultured chorionic villus samples, and fetal blood cells: Hacettepe experience
ÜNAL C., ÖZKARA H. A., TANAÇAN A., FADILOĞLU E., LAY İ., TOPÇU M., et al.
PRENATAL DIAGNOSIS
, cilt.39, sa.12, ss.1080-1085, 2019 (SCI-Expanded, Scopus)
2019
201917. Childhood Traumas, Attachment and Alexithymia in Adolescents with Psychogenic Nonepileptic Seizure Type of Conversion Disorder
Uzun O., AKDEMİR D., TOPÇU M., Ozsungur B.
TURK PSIKIYATRI DERGISI
, cilt.30, sa.2, ss.109-117, 2019 (SSCI, Scopus, TRDizin)
2019
201918. Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature
Sprute R., ARDIÇLI D., Oguz K. K., Malenica-Mandel A., Daimagueler H., Koy A., et al.
HUMAN GENOME VARIATION
, cilt.6, 2019 (ESCI, Scopus)
2019
201919. Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect
YALNIZOĞLU D., ÖZGÜL R. K., Oguz K. K., Ozer B., Yucel-Yilmaz D., Gurbuz B., et al.
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.42, sa.2, ss.381-388, 2019 (SCI-Expanded, Scopus)
2018
201820. Mystery Case: Pontine tegmental cap dysplasia in a neonate
BİLGİN N., PARLAK Ş., Simsek-Kiper P. O., Topcu M., Topaloglu H.
NEUROLOGY
, cilt.91, sa.22, 2018 (SCI-Expanded, Scopus)
2018
201821. Neurologic Involvement in Primary Immunodeficiency Disorders
Yildirim M., Ayvaz D. N., Konuskan B., GÖÇMEN R., Tezcan I., TOPÇU M., et al.
JOURNAL OF CHILD NEUROLOGY
, cilt.33, sa.5, ss.320-328, 2018 (SCI-Expanded, Scopus)
2017
201722. Childhood hereditary ataxias: experience from a tertiary referral university hospital in Turkey
Arslan E. A., Gocman R., Oguz K. K., Konuskan G. D., SERDAROĞLU E., Topaloglu H., et al.
ACTA NEUROLOGICA BELGICA
, cilt.117, sa.4, ss.857-865, 2017 (SCI-Expanded, Scopus)
2017
201723. Niemann-Pick disease type C in the newborn period: a single-center experience
GÜMÜŞ E., Haliloglu G., KARHAN A. N., DEMİR H., Gurakan F., TOPÇU M., et al.
EUROPEAN JOURNAL OF PEDIATRICS
, cilt.176, sa.12, ss.1669-1676, 2017 (SCI-Expanded, Scopus)
2017
201724. Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member
TOPÇU M., Aktas D., ÖZTOPRAK M., Mungan N. O., YÜCE A., ALİKAŞİFOĞLU M.
MOLECULAR DIAGNOSIS & THERAPY
, cilt.21, sa.6, ss.643-651, 2017 (SCI-Expanded, Scopus)
2017
201725. The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease
Hendriksz C. J., Anheim M., Bauer P., Bonnot O., Chakrapani A., Corvol J., et al.
CURRENT MEDICAL RESEARCH AND OPINION
, cilt.33, sa.5, ss.877-890, 2017 (SCI-Expanded, Scopus)
2017
201726. Management Strategies for CLN2 Disease
Williams R. E., Adams H. R., Blohm M., Cohen-Pfeffer J. L., de los Reyes E., Denecke J., et al.
PEDIATRIC NEUROLOGY
, cilt.69, ss.102-112, 2017 (SCI-Expanded, Scopus)
2016
201627. Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder
Tarlungeanu D. C., Deliu E., Dotter C. P., Kara M., Janiesch P. C., Scalise M., et al.
CELL
, cilt.167, sa.6, ss.1481-1512, 2016 (SCI-Expanded, Scopus)
2016
201628. The seizure semiology consistent with frontal lobe symptomatogenic zone in children
Oztoprak Ü., Yalnızoğlu D., Oguz K. K., Ergün E., Soylemezoglu F., Bilginer B., et al.
TURKISH JOURNAL OF PEDIATRICS
, cilt.58, sa.6, ss.583-591, 2016 (SCI-Expanded, Scopus, TRDizin)
2016
201629. Evaluation of central nervous system in patients with glycogen storage disease type 1a
Aydemir Y., Gurakan F., Temizel İ. N., DEMİR H., Oguz K. K., YALNIZOĞLU D., et al.
TURKISH JOURNAL OF PEDIATRICS
, cilt.58, sa.1, ss.12-18, 2016 (SCI-Expanded, Scopus, TRDizin)
2015
201530. Conventional and advanced MR imaging in infantile Refsum disease
KILIÇ M., Karli-Oguz K., Haliloglu G., TOPÇU M., Wanders R. J., COŞKUN T.
TURKISH JOURNAL OF PEDIATRICS
, cilt.57, sa.3, ss.294-299, 2015 (SCI-Expanded, Scopus, TRDizin)
2015
201531. Vertigo in childhood: A retrospective series of 100 children
BATU AKAL E. D., Anlar B., TOPÇU M., Turanli G., AYSÜN S.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
, cilt.19, sa.2, ss.226-232, 2015 (SCI-Expanded, Scopus)
2015
201532. Electrical status epilepticus during sleep: A study of 22 patients
Degerliyurt A., YALNIZOĞLU D., Bakar E. E., TOPÇU M., Turanli G.
BRAIN & DEVELOPMENT
, cilt.37, sa.2, ss.250-264, 2015 (SCI-Expanded, Scopus)
2015
201533. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Muona M., Berkovic S. F., Dibbens L. M., Oliver K. L., Maljevic S., Bayly M. A., et al.
NATURE GENETICS
, cilt.47, sa.1, ss.39-49, 2015 (SCI-Expanded, Scopus)
2015
201534. Semiological seizure classification of epileptic seizures in children admitted to video-EEG monitoring unit
Alan S., YALNIZOĞLU D., Turanli G., Karli-Oguz K., Lay-Ergun E., Soylemezoglu F., et al.
TURKISH JOURNAL OF PEDIATRICS
, cilt.57, sa.4, ss.317-323, 2015 (SCI-Expanded, Scopus, TRDizin)
2014
201435. Somatic Mutations in Cerebral Cortical Malformations
Jamuar S. S., Lam A. N., Kircher M., D'Gama A. M., Wang J., Barry B. J., et al.
NEW ENGLAND JOURNAL OF MEDICINE
, cilt.371, sa.8, ss.733-743, 2014 (SCI-Expanded, Scopus)
2014
201436. Etiological yield of SNP microarrays in idiopathic intellectual disability
Ütine G. E., Halıloglu G., Volkan-Salancı B., Cetinkaya A., Kıper P. O., Alanay Y., et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
, cilt.18, sa.3, ss.327-337, 2014 (SCI-Expanded, Scopus)
2014
201437. Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning
Bae B., Tietjen I., Atabay K. D., Evrony G. D., Johnson M. B., Asare E., et al.
SCIENCE
, cilt.343, sa.6172, ss.764-768, 2014 (SCI-Expanded, Scopus)
2014
201438. Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy
Tuz K., Bachmann-Gagescu R., O'Day D. R., Hua K., Isabella C. R., Phelps I. G., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
, cilt.94, sa.1, ss.62-72, 2014 (SCI-Expanded, Scopus)
2013
201339. Health-related quality of life in adolescents with psychogenic nonepileptic seizures
AKDEMİR D., Uzun O., ÖZSUNGUR B., TOPÇU M.
EPILEPSY & BEHAVIOR
, cilt.29, sa.3, ss.516-520, 2013 (SCI-Expanded, Scopus)
2013
201340. Usefulness of long-term video-EEG monitoring in children at a tertiary care center
Onay S., YALNIZOĞLU D., TOPÇU M., Turanli G.
TURKISH JOURNAL OF PEDIATRICS
, cilt.55, sa.6, ss.591-597, 2013 (SCI-Expanded, Scopus)
2013
201341. Developmental abnormalities and mental retardation: diagnostic strategy
TOPÇU M., YALNIZOĞLU D.
PEDIATRIC NEUROLOGY, PT I
, cilt.111, ss.211-217, 2013 (SCI-Expanded, Scopus)
2012
201242. Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene
Kousi M., Anttila V., Schulz A., Calafato S., Jakkula E., Riesch E., et al.
JOURNAL OF MEDICAL GENETICS
, cilt.49, sa.6, ss.391-399, 2012 (SCI-Expanded, Scopus)
2012
201243. Childhood disabilities: reappraisal in the high-tech era
Topcu M.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
, cilt.54, sa.6, ss.483, 2012 (SCI-Expanded, Scopus)
2012
201244. Four novel mutations in the beta-galactosidase gene identified in infantile type of GM1 gangliosidosis
CELTIKCI B., AYDIN H. I., Sivri S., Sonmez M., TOPÇU M., ÖZKARA H. A.
CLINICAL BIOCHEMISTRY
, cilt.45, ss.571-574, 2012 (SCI-Expanded, Scopus)
2012
201245. Intractable Epilepsy in Childhood: Presurgical Evaluation and Treatment
YALNIZOĞLU D., HIRFANOĞLU T., SERDAROĞLU A., Turanli G., TOPÇU M.
EPILEPSI
, cilt.18, ss.7-14, 2012 (ESCI, TRDizin)
2012
201246. Hypophosphatasia Presenting with Pyridoxine-Responsive Seizures, Hypercalcemia, and Pseudotumor Cerebri: Case Report
DEMİRBİLEK H., Alanay Y., ALİKAŞİFOĞLU A., TOPÇU M., Mornet E., Gonc N., et al.
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
, cilt.4, sa.1, ss.34-38, 2012 (SCI-Expanded, Scopus)
2012
201247. When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield and retrospective analysis from a tertiary center
Haliloglu G., Vezir E., Baydar L., Onol S., Sivri S., COŞKUN T., et al.
TURKISH JOURNAL OF PEDIATRICS
, cilt.54, sa.1, ss.52-58, 2012 (SCI-Expanded, Scopus)
2011
201148. Two novel alpha-galactosidase A mutations causing Fabry disease: A missense mutation M11V in a heterozygote woman and a nonsense mutation R190X in a hemizygote man.
CELTIKCI B., TOPÇU M., ÖZKARA H. A.
Clinical biochemistry
, cilt.44, ss.809-12, 2011 (SCI-Expanded, Scopus)
2011
201149. Novel mutations of the MLC1 gene in Turkish patients
YÜZBAŞIOĞLU A., TOPÇU M., KOCAEFE Y. Ç., ÖZGÜÇ M.
EUROPEAN JOURNAL OF MEDICAL GENETICS
, cilt.54, sa.3, ss.281-283, 2011 (SCI-Expanded, Scopus)
2010
201050. Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture
Yu T. W., Mochida G. H., Tischfield D. J., Sgaier S. K., Flores-Sarnat L., Sergi C. M., et al.
NATURE GENETICS
, cilt.42, sa.11, ss.1015-1021, 2010 (SCI-Expanded, Scopus)
2010
201051. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
Bilguvar K., Ozturk A. K., Louvi A., Kwan K. Y., Choi M., Tatli B., et al.
NATURE
, cilt.467, sa.7312, ss.207-211, 2010 (SCI-Expanded, Scopus)
2010
201052. The syndrome of perisylvian polymicrogyria with congenital arthrogryposis
Poduri A., Chitsazzadeh V., D'Arrigo S., Fedrizzi E., Pantaleoni C., Riva D., et al.
BRAIN & DEVELOPMENT
, cilt.32, sa.7, ss.550-555, 2010 (SCI-Expanded, Scopus)
2010
201053. Mutations in PNKP cause microcephaly, seizures and defects in DNA repair
Shen J., Gilmore E. C., Marshall C. A., Haddadin M., Reynolds J. J., Eyaid W., et al.
NATURE GENETICS
, cilt.42, sa.3, ss.245-251, 2010 (SCI-Expanded, Scopus)
2010
201054. Structural abnormalities of the brain other than molar tooth sign in Joubert syndrome-related disorders
Senocak E. U., Oguz K. K., Haliloglu G., TOPÇU M., Cila A.
DIAGNOSTIC AND INTERVENTIONAL RADIOLOGY
, cilt.16, sa.1, ss.3-6, 2010 (SCI-Expanded, Scopus)
2009
200955. Recommendations on the diagnosis and management of Niemann-Pick disease type C
Wraith J. E., Baumgartner M. R., Bembi B., Covanis A., Levade T., Mengel E., et al.
MOLECULAR GENETICS AND METABOLISM
, cilt.98, ss.152-165, 2009 (SCI-Expanded, Scopus)
2009
200956. Surgery for epilepsy in children with dysembryoplastic neuroepithelial tumor: clinical spectrum, seizure outcome, neuroradiology, and pathology
BİLGİNER B., YALNIZOĞLU D., Soylemezoglu F., TURANLI G., CİLA A., TOPÇU M., et al.
CHILDS NERVOUS SYSTEM
, cilt.25, sa.4, ss.485-491, 2009 (SCI-Expanded, Scopus)
2009
200957. Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis
Kousi M., Siintola E., Dvorakova L., Vlaskova H., Turnbull J., TOPÇU M., et al.
BRAIN
, cilt.132, ss.810-819, 2009 (SCI-Expanded, Scopus)
2009
200958. Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy
Oender E., Sinici I., Soenmez F. M., TOPÇU M., Oezkara H. A.
NEUROLOGICAL RESEARCH
, cilt.31, sa.1, ss.60-66, 2009 (SCI-Expanded, Scopus)
2008
200859. Lamotrigine in children with refractory epilepsy
Celebi A., YALNIZOĞLU D., Turanli G., Topaloglu H., AYSÜN S., TOPÇU M.
TURKISH JOURNAL OF PEDIATRICS
, cilt.50, sa.5, ss.426-431, 2008 (SCI-Expanded, Scopus)
2008
200860. Osteoid osteoma in a 16-year-old boy presenting with atrophy of the left thigh: diagnostic difficulties
AKGÜL S., ÜZÜMCÜGİL A., BOZKURT M. F., TOPÇU M.
TURKISH JOURNAL OF PEDIATRICS
, cilt.50, sa.4, ss.373-376, 2008 (SCI-Expanded, Scopus)
2008
200861. Recurrent pseudotumoral hemicerebellitis: neuroimaging findings
Oguz K. K., Haliloglu G., ALEHAN D., TOPÇU M.
PEDIATRIC RADIOLOGY
, cilt.38, sa.4, ss.462-466, 2008 (SCI-Expanded, Scopus)
2007
200762. Psychiatric evaluation of children with CSWS (continuous spikes and waves during slow sleep) and BRE (benign childhood epilepsy with centrotemporal spikes/rolandic epilepsy) compared to children with absence epilepsy and healthy controls
Taner Y., Erdogan-Bakar E., Turanli G., TOPÇU M.
TURKISH JOURNAL OF PEDIATRICS
, cilt.49, sa.4, ss.397-403, 2007 (SCI-Expanded, Scopus)
2007
200763. Identification of 7th hexosaminidase A mutation of Tay-Sachs disease in the Turkish population
Sinici I., OENDER E., Topcu M., Oezkara H. A.
TURKISH JOURNAL OF PEDIATRICS
, cilt.49, sa.3, ss.337-338, 2007 (SCI-Expanded, Scopus)
2007
200764. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter
Siintola E., Topcu M., Aula N., Lohi H., Minassian B. A., Paterson A. D., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
, cilt.81, sa.1, ss.136-146, 2007 (SCI-Expanded, Scopus)
2007
200765. Neurologic outcome in patients with MRI pattern of damage typical for neonatal hypoglycemia
Yalnizoglu D., Halilo G., Turanli G., Cila A., Topcu M.
BRAIN & DEVELOPMENT
, cilt.29, sa.5, ss.285-292, 2007 (SCI-Expanded, Scopus)
2007
200766. Impact of recent seizures on cerebral blood flow in patients with Sturge-Weber syndrome: Study of 2 cases
Oguz K. K., Senturk S., Ozturk A., Anlar B., Topcu M., Cila A.
JOURNAL OF CHILD NEUROLOGY
, cilt.22, sa.5, ss.617-620, 2007 (SCI-Expanded, Scopus)
2007
200767. Malformations of cortical development and epilepsy: evaluation of 101 cases (Part II)
Guengoer S., Yalnizoglu D., Turanli G., Saatci I., Erdogan-Bakar E., Topcu M.
TURKISH JOURNAL OF PEDIATRICS
, cilt.49, sa.2, ss.131-140, 2007 (SCI-Expanded, Scopus)
2006
200668. Outcome and long term follow-up after corpus callosotomy in childhood onset intractable epilepsy
Turanli G., Yalnizoglu D., Genc-Acikgoz D., Akalan N., Topcu M.
CHILDS NERVOUS SYSTEM
, cilt.22, sa.10, ss.1322-1327, 2006 (SCI-Expanded, Scopus)
1998
199869. Megalencephaly and leukodystrophy with mild clinical course: A report on 12 new cases
TOPÇU M., Saatci I., TOPÇUOĞLU M. A., Kose G., Kunak B.
Brain and Development
, cilt.20, sa.3, ss.142-153, 1998 (SCI-Expanded, Scopus)
1997
199770. Sfingolipit depo hastalıklarının enzimatik tanısı
ÖZKARA H. A., TOPÇU M., BEKSAÇ M. S.
Klinik Bilimler ve Doktor , cilt.3, ss.431-439, 1997 (Hakemli Dergi)
1997
199771. Prenatal enzymatic diagnosis of Tay Sachs and Sandhoff diseases using chorionic villus and fetal blood sampling
ÖZKARA H. A., TOPÇU M., ÇAKAR A. N., BEKSAÇ M. S.
Gynecology, Obstetrics and Reproductive Medicine (GORM) , cilt.3, sa.1, ss.251-254, 1997 (Hakemli Dergi)
1996
199672. Cockayne syndrome: Review of 25 cases
ÖZDİRİM E., Topçu M., Özön A., Cila A.
Pediatric Neurology
, cilt.15, sa.4, ss.312-316, 1996 (SCI-Expanded, Scopus)
1995
199573. Çocukluk çağı Metakromatik lökodistrofi tanısı alan olgularda Arilsülfataz A enzim aktivite değerleri klinik ve laboratuvar bulguları
EMRE S., TOPÇU M., SEYRANTEPE V., ÖZKARA H. A., RENDA Y.
Çocuk Sağlığı ve Hastalıkları Dergisi , cilt.38, sa.4, ss.575-582, 1995 (Hakemli Dergi)
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler
2016
20161. A case with psychomotor regression and leukoencephalopathy due to RNASEH2B gene defect
ÖZGÜL R. K., YÜCEL YILMAZ D., SERDAROĞLU E., YALNIZOĞLU D., TOPÇU M., DURSUN A.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 6 - 09 Eylül 2016, (Özet Bildiri)
2016
20162. Clinical use of plasma oxysterols for rapid diagnosis of Niemann Pick type C
LAY İ., ARDIÇLI D., Afshin S., AKBIYIK F., Serdaroğlu E., HALİLOĞLU V. G., et al.
SSIEM 2016, 6 - 09 Eylül 2016, cilt.39, (Özet Bildiri)
2016
20163. Thalamic Lesions Associated with Epilepsy and ESES
YILDIRIM M., GÖÇMEN R., TOPÇU M., YALNIZOĞLU D.
14th International Child Neurology Congress, Amsterdam, Hollanda, 1 - 05 Mayıs 2016, (Özet Bildiri)
2016
20164. New biomarkers in the diagnosis of Niemann Pick Type C plasma levels of oxysterols
LAY İ., SAMADİ A., ARDIÇLI D., HALİLOĞLU V. G., YÜCE A., COŞKUN T., et al.
V. Congress of Lysosomal Disorders with International Participation, bODRUM, Türkiye, 14 - 17 Nisan 2016, (Tam Metin Bildiri)
2016
20165. Niemann-Pick disease type C in the newborn period: Reflections from 10 patients
YÜCE A., GÜMÜŞ E., Haliloglu G., KARHAN A. N., ARDIÇLI D., DEMİR H., et al.
12th Annual WORLD Symposium, California, Amerika Birleşik Devletleri, 29 Şubat - 04 Mart 2016, cilt.117, (Özet Bildiri)
2016
20166. Expert opinion on the management of CLN2 disease
Schulz A., Adams H. R., Blohm M., Cohen-Pfeffer J. L., de los Reyes E., Denecke J., et al.
12th Annual WORLD Symposium / Research Meeting of the Lysosomal-Disease-Network, California, Amerika Birleşik Devletleri, 29 Şubat - 04 Mart 2016, cilt.117, (Özet Bildiri)
2015
20157. Toxic leukoencephalopathy in synthetic cannabinoid abuse
TOPÇU M., SERDARAĞLU E., OKAR S. V., BEKTAŞ H., BEKLER B. M., GÖÇMEN R.
The European Paediatric Neurology Society (EPNS), 27 - 30 Mayıs 2015, (Özet Bildiri)
2015
20158. Clinical characteristics of MLD patients admitted to Hacettepe University in one year period
TOPÇU M., CEREN G., ARDIÇLI D., KARLI OĞUZ H. K.
Eur pediatric neurology society meeting 2015, 26 - 30 Mayıs 2015, (Özet Bildiri)
2015
20159. Dirençli Hipoglisemi Hipertrofik Kardiyomiyopati ve Ensefalopatili Bir Hastada Ekzom Dizileme ile Mitokondriyal TSFM Gen Defekti
DURSUN A., ÖMER FARUK G., MELİS P., YÜCEL YILMAZ D., TOPÇU M., YALNIZOĞLU D., et al.
Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Türkiye, 14 - 18 Nisan 2015
2015
201510. Hereditary spastic paraplegia with predominant cerebel lar signs due to KIF1C mutation in two brothers
ÖZGÜL R. K., Esra s., YALNIZOĞLU D., YÜCEL YILMAZ D., TOPÇU M., ZZ G., et al.
SSIEM, 4 - 07 Eylül 2015, (Tam Metin Bildiri)
2014
201411. Otorhinolaryngological audiovestibular and swallowing manifestations of patients with Niemann Pick disease Type C
TAGA SENİRLİ R., AKYOL M. U., KUŞCU O., TOPÇU M., AKSOY S., DEMİR N.
12th Congress of the European Society of Pediatric Otorhinolaryngology, 31 Mayıs - 03 Haziran 2014
2014
201412. METHODOLOGY OF APPROACHES TO CHILDHOOD HEREDITARY ATAXIAS
ACAR ARSLAN E., GÖÇMEN R., KARLI OĞUZ H. K., DUZGUN KONUSKAN G., TOPALOĞLU H. A., TOPÇU M.
International Child Neurology Congress (ICNC), 13th International Child Neurology Congress (ICNC2014), Foz do Iguaçu, Brezilya, 4 - 09 Mayıs 2014, (Özet Bildiri)
2008
200813. VAGUS NERVE STIMULATION IN CHILDREN WITH RETT SYNDROME
TOPÇU M., YALNIZOĞLU D., Turanli G., Bilginer B., Akalan N.
62nd Annual Meeting of the American-Epilepsy-Society, Washington, Amerika Birleşik Devletleri, 5 - 09 Aralık 2008, cilt.49, ss.297, (Özet Bildiri)
2006
200614. Clinical and genetic features of 32 families with autosomal recessive Hereditary Spastic Paraplegias
Oelmez A., Uyanik G., Gross C., Cirak S., Topcu M., Elibol B., et al.
11th International Congress on Neuromuscular Diseases, İstanbul, Türkiye, 2 - 07 Temmuz 2006, cilt.16, (Özet Bildiri)
2006
200615. Classification and follow-up of pediatric patients with absence epilepsy
Soyuer O. U., Turanli G., Yalnizoglu D., Bakar E. E., Topcu M.
60th Annual Meeting of the American-Epilepsy-Society, California, Amerika Birleşik Devletleri, 1 - 05 Aralık 2006, cilt.47, ss.152, (Özet Bildiri)
Desteklenen Projeler
2017 - 2019
2017 - 2019Metakromatik lökodistrofi hastalığının alt tiplerinin tanımlanması, patojenik mutasyonların belirlenmesi, patogenezde inflamasyonun incelenmesi.
Yükseköğretim Kurumları Destekli Proje , BAP Araştırma Projesi
ÖZKARA H. A. (Yürütücü), KURT C. E., ERDEM ÖZDAMAR S., TAN M. E., KONUŞKAN B., KARAAĞAOĞLU A. E., et al.