Metrikler
Yayın
150
Açık Erişim
26
BM Sürdürülebilir Kalkınma Amaçları
Eğitim Bilgileri
1993 - 1998
1993 - 1998Tıpta Uzmanlık
Hacettepe Üniversitesi, Tıp Fakültesi, Çocuk Sağlığı Ve Hastalıkları, Türkiye
Araştırma Alanları
Tıp
Sağlık Bilimleri
Dahili Tıp Bilimleri
Çocuk Sağlığı ve Hastalıkları
Akademik Faaliyetlere Dayalı Araştırma Alanları
Avesis Araştırma Alanları
WoS Araştırma Alanları
Scopus Araştırma Alanları
Akademik Ünvanlar / Görevler
2018 - Devam Ediyor
2018 - Devam EdiyorDr. Öğr. Üyesi
Hacettepe Üniversitesi, Tıp Fakültesi (İngilizce), Dahili Tıp Bilimleri Bölümü
1999 - 2018
1999 - 2018Yrd. Doç. Dr.
Hacettepe Üniversitesi, Tıp Fakültesi (İngilizce), Dahili Tıp Bilimleri Bölümü
Makaleler
Tümü (68)
SCI-E, SSCI, AHCI (66)
SCI-E, SSCI, AHCI, ESCI (67)
ESCI (1)
Scopus (68)
TRDizin (5)
2025
20251. Neurogenic arthrogryposis, hypotonia, dysmorphic features plus malformation of cortical development further expands the ARL6IP1 loss-of-function phenotype
Haliloglu G., Donkervoort S., ÖZTOPRAK Ü., Osei-Owusu I. A., Pais L., Devrez F. D., et al.
NEUROMUSCULAR DISORDERS
, 2025 (SCI-Expanded, Scopus)
2024
20242. Anti-SRP myositis: a diagnostic and therapeutic challenge
Polat M. C., Ardicli D., Acar B. c., TALİM B., Senbil N., Celikel E.
TURKISH JOURNAL OF PEDIATRICS
, cilt.66, sa.6, ss.792-800, 2024 (SCI-Expanded, Scopus, TRDizin)
2024
20243. Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy
Cavusoglu D., TALİM B., Ekinci G., Topaloglu H.
JOURNAL OF NEUROMUSCULAR DISEASES
, cilt.11, sa.4, ss.883-887, 2024 (SCI-Expanded, Scopus)
2024
20244. Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia
Distelmaier F., Sezer A., Helm C., Waldmueller S., Seibt A., Gangfuss A., et al.
BRAIN
, cilt.147, sa.7, 2024 (SCI-Expanded, Scopus)
2024
20245. Mimicking TGFBI Hot-Spot Mutation Did Not Result in Any Deposit Formation in the Zebrafish Cornea
Yaylacıoğlu Tuncay F., TALİM B., DİNÇER P. R.
Current Eye Research
, cilt.49, sa.5, ss.458-466, 2024 (SCI-Expanded, Scopus)
2023
20236. Early-onset juvenile dermatomyositis: A tertiary referral center experience and review of the literature
ŞENER S., BAŞARAN H. Ö., BATU AKAL E. D., Sag E., Oz S., TALİM B., et al.
Seminars in Arthritis and Rheumatism
, cilt.58, 2023 (SCI-Expanded, Scopus)
2023
20237. A Child with Refractory and Relapsing Anti-3-Hydroxy-3-Methylglutaryl-Coenzyme A Reductase Myopathy: Case-Based Review
ŞENER S., BATU AKAL E. D., SARI S., KASAP CÜCEOĞLU M., YILDIZ A. E., TALİM B., et al.
Journal of neuromuscular diseases
, cilt.10, sa.2, ss.279-291, 2023 (SCI-Expanded, Scopus)
2022
20228. Alterations in insulin-like growth factor system in spinal muscular atrophy
YEŞBEK KAYMAZ A., Bal S. K., Bora G., TALİM B., Ozon A., ALİKAŞİFOĞLU A., et al.
MUSCLE & NERVE
, cilt.66, sa.5, ss.631-638, 2022 (SCI-Expanded, Scopus)
2022
20229. Could TGFBI-related corneal dystrophies be mimicked in zebrafish via CRISPR/Cas9-mediated hot spot arginine variations?
Tuncay F. Y., TALİM B., DİNÇER P. R.
EUROPEAN JOURNAL OF HUMAN GENETICS
, cilt.30, sa.SUPPL 1, ss.140, 2022 (SCI-Expanded, Scopus)
2022
202210. A Rare Pediatric Case of Severe Rhabdomyolysis Owing to Dual Infection
Goktas O. A., BEKTAŞ Ö., Tuncer G. O., ÖZÇAKAR Z. B., TALİM B., EMİNOĞLU F. T., et al.
KLINISCHE PADIATRIE
, cilt.234, sa.02, ss.119-122, 2022 (SCI-Expanded, Scopus)
2022
202211. A novel bi-allelic variant in the SDHB gene causes a severe mitochondrial complex II deficiency: a case report
PARILTAY E., PARILTAY E., TALİM B., Onay H.
CLINICAL NEUROLOGY AND NEUROSURGERY
, cilt.212, 2022 (SCI-Expanded, Scopus)
2021
202112. Diagnostic yield of muscle biopsy in infants: Retrospective analysis of clinical and histopathologic findings
Genc H. M., Guven A., TALİM B.
CLINICAL NEUROPATHOLOGY
, cilt.40, sa.5, ss.286-291, 2021 (SCI-Expanded, Scopus)
2021
202113. Reduced mitochondrial fission and impaired energy metabolism in human primary skeletal muscle cells of Megaconial Congenital Muscular Dystrophy
AKSU MENGEŞ E., Eylem C. C., NEMUTLU E., Gizer M., KORKUSUZ P., Topaloglu H., et al.
SCIENTIFIC REPORTS
, cilt.11, sa.1, 2021 (SCI-Expanded, Scopus)
2021
202114. Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy
Wong H. H., Seet S. H., Maier M., GÜREL A., Traspas R. M., Lee C., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
, cilt.108, sa.7, ss.1301-1317, 2021 (SCI-Expanded, Scopus)
2021
202115. Milk of calcium: A rare manifestation of juvenile dermatomyositis
Yildirim D. G., AKDULUM İ., TALİM B., DEMİR E., BUYAN N., BAKKALOĞLU EZGÜ S. A.
ARCHIVES OF RHEUMATOLOGY
, cilt.36, sa.2, ss.302-304, 2021 (SCI-Expanded, Scopus, TRDizin)
2021
202116. Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey
Daimagueler H., Akpulat U., Oezdemir O., YİŞ U., GÜNGÖR S., TALİM B., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, cilt.185, sa.6, ss.1678-1690, 2021 (SCI-Expanded, Scopus)
2021
202117. Validation of the EULAR/ACR 2017 idiopathic inflammatory myopathy classification criteria in juvenile dermatomyositis patients.
Sag E., Demir S., Bilginer Y., Talim B., Haliloglu G., Ozen S.
Clinical and experimental rheumatology
, cilt.39, ss.688-694, 2021 (SCI-Expanded, Scopus)
2021
202118. Knockout of zebrafish desmin genes does not cause skeletal muscle degeneration but alters calcium flux.
Kayman Kürekçi G., Kural Mangit E., Koyunlar C., Unsal S., Saglam B., Ergin B., et al.
Scientific reports
, cilt.11, sa.1, ss.7505, 2021 (SCI-Expanded, Scopus)
2020
202019. Clinical features, muscle biopsy scores, myositis specific antibody profiles and outcome in juvenile dermatomyositis.
Sag E., Demir S., Bilginer Y., Talim B., Haliloglu G., Topaloglu H., et al.
Seminars in arthritis and rheumatism
, cilt.51, ss.95-100, 2020 (SCI-Expanded, Scopus)
2020
202020. Inflammatory milieu of muscle biopsies in juvenile dermatomyositis.
Sag E., Kale G., Haliloglu G., Bilginer Y., Akcoren Z., Orhan D., et al.
Rheumatology international
, 2020 (SCI-Expanded, Scopus)
2020
202021. The Common miRNA Signatures Associated with Mitochondrial Dysfunction in Different Muscular Dystrophies
AKSU MENGEŞ E., Akkaya-Ulum Y. Z., DAYANGAÇ ERDEN D., Balci-Peynircioglu B., YÜZBAŞIOĞLU A., Topaloglu H., et al.
AMERICAN JOURNAL OF PATHOLOGY
, cilt.190, sa.10, ss.2136-2145, 2020 (SCI-Expanded, Scopus)
2020
202022. Circulating Epstein-Barr virus DNA and cell-free DNA in pediatric lymphomas
YALÇIN B., Kutluk T., Agbaba S. K., Demir C., TALİM B.
TURKISH JOURNAL OF PEDIATRICS
, cilt.62, sa.4, ss.541-550, 2020 (SCI-Expanded, Scopus, TRDizin)
2019
201923. Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency
YILDIZ Y., TALİM B., Haliloglu G., Topaloglu H., AKÇÖREN Z., DURSUN A., et al.
PEDIATRIC NEUROLOGY
, cilt.99, ss.69-75, 2019 (SCI-Expanded, Scopus)
2019
201924. Nemaline rod myopathy treated with L-tyrosine to relieve symptoms in a neonate
Sahin S., Oncel M. Y., Bidev D., Okur N., TALİM B., Oguz S. S.
ARCHIVOS ARGENTINOS DE PEDIATRIA
, cilt.117, sa.4, 2019 (SCI-Expanded, Scopus)
2019
201925. Do not Miss Rare and Treatable Cause of Early-Onset Hemolytic Uremic Syndrome: Cobalamin C Deficiency
TOPALOĞLU R., Inozu M., GÜLHAN B., BİLGİNER GÜRBÜZ B., TALİM B., COŞKUN T.
NEPHRON
, cilt.142, sa.3, ss.258-263, 2019 (SCI-Expanded, Scopus)
2018
201826. LARGE expression in different types of muscular dystrophies other than dystroglycanopathy
Balci-Hayta B., TALİM B., KALE G., Dincer P.
BMC NEUROLOGY
, cilt.18, 2018 (SCI-Expanded, Scopus)
2018
201827. Bi-allelic mutations in MYL1 cause a severe congenital myopathy
Ravenscroft G., Zaharieva I. T., Bortolotti C. A., Lambrughi M., Pignataro M., Borsari M., et al.
HUMAN MOLECULAR GENETICS
, cilt.27, sa.24, ss.4263-4272, 2018 (SCI-Expanded, Scopus)
2018
201828. Prenatal Diagnosis of Merosin-Deficient Muscular Dystrophy
Fadiloglu E., Ozten G., Unal C., Talim B., Topaloglu H., Beksac M. S.
FETAL AND PEDIATRIC PATHOLOGY
, cilt.37, sa.6, ss.418-423, 2018 (SCI-Expanded, Scopus)
2018
201829. A Case of Acute Bilateral Ptosis: SURF-1 Mutation
Dedeoglu O., Yuksel D., Sel C. G., Kilic M., Oguz K. K., TALİM B.
TURKISH JOURNAL OF NEUROLOGY
, cilt.24, sa.1, ss.83-85, 2018 (ESCI, Scopus, TRDizin)
2017
201730. Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study
Akinci G., Topaloglu H., Demir T., ERŞEN DANYELİ A., TALİM B., Keskin F. E., et al.
NEUROMUSCULAR DISORDERS
, cilt.27, sa.10, ss.923-930, 2017 (SCI-Expanded, Scopus)
2017
201731. Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects
HALILOGLU G., BECKER K., Temucin C., TALİM B., KUCUKSAHIN N., PERGANDE M., et al.
JOURNAL OF HUMAN GENETICS
, cilt.62, sa.4, ss.497-501, 2017 (SCI-Expanded, Scopus)
2017
201732. Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation
Ardicli D., GÖÇMEN R., TALİM B., SPRUTE R., Haliloglu G., ÇIRAK S., et al.
NEUROMUSCULAR DISORDERS
, cilt.27, sa.3, ss.239-242, 2017 (SCI-Expanded, Scopus)
2016
201633. Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
O'Grady G. L., Best H. A., Sztal T. E., Schartner V., Sanjuan-Vazquez T., Donkervoort S., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
, cilt.99, sa.5, ss.1086-1105, 2016 (SCI-Expanded, Scopus)
2016
201634. Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency
Olsen R. K. J., Konarikova E., Giancaspero T. A., Mosegaard S., Boczonadi V., Matakovic L., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
, cilt.98, sa.6, ss.1130-1145, 2016 (SCI-Expanded, Scopus)
2015
201535. Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients
Haliloglu G., TALİM B., Sel C. G., Topaloglu H.
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.38, sa.6, ss.1099-1108, 2015 (SCI-Expanded, Scopus)
2015
201536. Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth
Todd E. J., Yau K. S., Ong R., Slee J., McGillivray G., Barnett C. P., et al.
ORPHANET JOURNAL OF RARE DISEASES
, cilt.10, 2015 (SCI-Expanded, Scopus)
2015
201537. Promotion of experimental autoimmune encephalomyelitis upon neutrophil granulocytes' stimulation with formyl-methionyl-leucyl-phenylalanine (fMLP) peptide
KILIÇ A., ESENDAĞLI G., SAYAT G., TALİM B., KARABUDAK R., KURNE A.
AUTOIMMUNITY
, cilt.48, sa.6, ss.423-428, 2015 (SCI-Expanded, Scopus)
2014
201438. SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy
Agrawal P. B., Pierson C. R., Joshi M., Liu X., Ravenscroft G., Moghadaszadeh B., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
, cilt.95, sa.2, ss.218-226, 2014 (SCI-Expanded, Scopus)
2014
201439. Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies
Taylor R. W., Pyle A., Griffin H., Blakely E. L., Duff J., He L., et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
, cilt.312, sa.1, ss.68-77, 2014 (SCI-Expanded, Scopus)
2014
201440. Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: A novel gene related to nuclear envelopathies
Kayman-Kurekci G., TALİM B., KORKUSUZ P., Sayar N., Sarioglu T., Oncel İ. H., et al.
NEUROMUSCULAR DISORDERS
, cilt.24, sa.7, ss.624-633, 2014 (SCI-Expanded, Scopus)
2014
201441. Recessive TTN truncating mutations define novel forms of core myopathy with heart disease
Chauveau C., Bonnemann C. G., Julien C., Kho A. L., Marks H., TALİM B., et al.
HUMAN MOLECULAR GENETICS
, cilt.23, sa.4, ss.980-991, 2014 (SCI-Expanded, Scopus)
2013
201342. A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies
Cetin N., Balci-Hayta B., Gundesli H., KORKUSUZ P., PURALI N., TALİM B., et al.
JOURNAL OF MEDICAL GENETICS
, cilt.50, sa.7, ss.437-443, 2013 (SCI-Expanded, Scopus)
2013
201343. Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy
Ravenscroft G., Miyatake S., Lehtokari V., Todd E. J., Vomauen P., Yau K. S., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
, cilt.93, sa.1, ss.6-18, 2013 (SCI-Expanded, Scopus)
2013
201344. Apoptosis in subacute sclerosing panencephalitis: Possibility for treatment
Anlar B., BEKEN S., TALİM B.
MEDICAL HYPOTHESES
, cilt.80, sa.4, ss.507-508, 2013 (SCI-Expanded, Scopus)
2013
201345. Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation
TALİM B., Pyle A., Griffin H., Topaloglu H., TOKATLI A., Keogh M. J., et al.
BRAIN
, cilt.136, 2013 (SCI-Expanded, Scopus)
2013
201346. Coexistence of two distinct intragenic dystrophin deletions in two maternal cousins with Duchenne Muscular Dystrophy
Balci-Hayta B., TALİM B., Dincer P., Topaloglu H.
NEUROMUSCULAR DISORDERS
, cilt.23, sa.1, ss.15-18, 2013 (SCI-Expanded, Scopus)
2012
201247. Early corticosteroid treatment in 4 duchenne muscular dystrophy patients: 14-year follow-up
Merlini L., Gennari M., Malaspina E., Cecconi I., Armaroli A., Gnudi S., et al.
MUSCLE & NERVE
, cilt.45, sa.6, ss.796-802, 2012 (SCI-Expanded, Scopus)
2011
201148. BRIEF REPORT A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy
Hara Y., Balci-Hayta B., Yoshida-Moriguchi T., Kanagawa M., de Bernabe D. B., Gundesli H., et al.
NEW ENGLAND JOURNAL OF MEDICINE
, cilt.364, sa.10, ss.939-946, 2011 (SCI-Expanded, Scopus)
2011
201149. Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency
Kemp J. P., Smith P. M., Pyle A., Neeve V. C. M., Tuppen H. A. L., Schara U., et al.
BRAIN
, cilt.134, ss.183-195, 2011 (SCI-Expanded, Scopus)
2010
201050. Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy
Gundesli H., TALİM B., KORKUSUZ P., Balci-Hayta B., Cirak S., Akarsu N. A., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
, cilt.87, sa.6, ss.834-841, 2010 (SCI-Expanded, Scopus)
2009
200951. A Comparative Study of alpha-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of alpha-Dystroglycan Does Not Consistently Correlate with Clinical Severity
Jimenez-Mallebrera C., Torelli S., Feng L., Kim J., Godfrey C., Clement E., et al.
BRAIN PATHOLOGY
, cilt.19, sa.4, ss.596-611, 2009 (SCI-Expanded, Scopus)
2009
200952. An unusual presentation of Muscle-Eye-Brain disease: Severe eye abnormalities with mild muscle and brain involvement
DEMİR E., GÜCÜYENER K., Akturk A., TALİM B., Konus O., Del Bo R., et al.
NEUROMUSCULAR DISORDERS
, cilt.19, sa.10, ss.692-695, 2009 (SCI-Expanded, Scopus)
2008
200853. Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin
Lehtokari V., Pelin K., Donner K., Voit T., Rudnik-Schoeneborn S., Stoetter M., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS
, cilt.16, sa.9, ss.1055-1061, 2008 (SCI-Expanded, Scopus)
2008
200854. Lissencephaly type II
Topaloglu H., TALİM B.
MALFORMATIONS OF THE NERVOUS SYSTEM
, cilt.87, ss.219-234, 2008 (SCI-Expanded, Scopus)
2007
200755. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
Gempel K., Topaloglu H., Talim B., Schneiderat P., Schoser B. G. H., Hans V. H., et al.
BRAIN
, cilt.130, ss.2037-2044, 2007 (SCI-Expanded, Scopus)
2007
200756. Prenatal diagnosis of muscle-eye-brain disease
Balci B., Morris-Rosendahl D. J., Celebi A., Talim B., Topaloglu H., Dincer P. R.
PRENATAL DIAGNOSIS
, cilt.27, sa.1, ss.51-54, 2007 (SCI-Expanded, Scopus)
2006
200657. Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit
Hoffmann K., Mueller J. S., Stricker S., Megarbane A., Rajab A., Lindner T. H., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
, cilt.79, sa.2, ss.303-312, 2006 (SCI-Expanded, Scopus)
2006
200658. Calpain-3 mutations in Turkey
Balci B., Aurino S., Haliloglu G., Talim B., Erdem S., Akcoren Z., et al.
EUROPEAN JOURNAL OF PEDIATRICS
, cilt.165, sa.5, ss.293-298, 2006 (SCI-Expanded, Scopus)
2005
200559. Focal segmental glomerulosclerosis associated with mitochondrial cytopathy: Report of two cases with special emphasis on podocytes
Gucer S., Talim B., Asan E., Korkusuz P., Ozen S., Unal Ş., et al.
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
, cilt.8, sa.6, ss.710-717, 2005 (SCI-Expanded, Scopus)
2005
200560. Prenatal diagnosis in laminin alpha 2 chain (merosin)-deficient congenital muscular dystrophy: A collective experience of five international centers
Vainzof M., Richard P., Herrmann R., Jimenez-Mallebrera C., Talim B., Yamamoto L., et al.
NEUROMUSCULAR DISORDERS
, cilt.15, ss.588-594, 2005 (SCI-Expanded, Scopus)
2005
200561. Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy
Giusti B., Lucarini L., Pietroni V., Lucioli S., Bandinelli B., Sabatelli P., et al.
ANNALS OF NEUROLOGY
, cilt.58, sa.3, ss.400-410, 2005 (SCI-Expanded, Scopus)
2005
200562. Myogenesis within the human gubernaculum: Histological and immunohistochemical evaluation
TANYEL F. C., TALIM B., ATILLA P., Muftuoglu S. F., KALE G.
EUROPEAN JOURNAL OF PEDIATRIC SURGERY
, cilt.15, sa.3, ss.175-179, 2005 (SCI-Expanded, Scopus)
2005
200563. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene
Balci B., Uyanik G., Dincer P. R., Gross C., Willer T., Talim B., et al.
NEUROMUSCULAR DISORDERS
, cilt.15, sa.4, ss.271-275, 2005 (SCI-Expanded, Scopus)
2005
200564. Severe lethal spinal muscular atrophy variant with arthrogryposis
Kizilates S., Talim B., Sel K., Kose G., Caglar M.
PEDIATRIC NEUROLOGY
, cilt.32, sa.3, ss.201-204, 2005 (SCI-Expanded, Scopus)
2004
200465. Beta-sarcoglycan gene mutations in Turkey.
Balci B., Wilichowski E., Haliloğlu G., Talim B., Aurino S., Kremer E., et al.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
, cilt.23, ss.154-8, 2004 (Scopus)
2003
200366. A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of α-dystroglycan
Dincer P. R., Balci B., Yuva Y., Talim B., Brockington M., Dincel D., et al.
NEUROMUSCULAR DISORDERS
, cilt.13, sa.10, ss.771-778, 2003 (SCI-Expanded, Scopus)
2000
200067. Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci
Talim B., Ferreiro A., Cormand B., Vignier N., Oto A., Gogus S., et al.
NEUROMUSCULAR DISORDERS
, cilt.10, sa.8, ss.548-552, 2000 (SCI-Expanded, Scopus)
1998
199868. Congenital epulis of the newborn - A case report
Talim B., Yigit Ş., Oran O., Akcoren Z.
TURKISH JOURNAL OF PEDIATRICS
, cilt.40, sa.1, ss.127-129, 1998 (SCI-Expanded, Scopus, TRDizin)
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler
2020
20201. Validation of the Eular/ACR 2017 idiopathic inflammatory myopathy classification criteria in JDM patients
SAĞ E., DEMİR S., BİLGİNER Y., TALİM B., HALİLOĞLU V. G., ÖZEN S.
Pediatric Rheumatology European Society (PReS) e-Congress-2020, BİLİNMEYEN ÜLKELER (DİĞER), 23 - 26 Eylül 2020, cilt.18, ss.54, (Özet Bildiri)
2018
20182. Limb-Girdle Muscular Dystrophy 2R modelling in zebrafishto determine a novel mechanism related to desmin-lamin B interaction
KAYMAN KÜREKÇİ G., KURAL MANGIT E., ÜNSAL Ş., YERSAL N., ERGİN B., SAĞLAM B., et al.
Keystone Symposia, 11 - 15 Kasım 2018, (Özet Bildiri)
2018
20183. Disease Modeling in Zebrafish: Limb-Girdle MuscularDystrophy 2R
ÜNSAL Ş., KAYMAN KÜREKÇİ G., KURAL MANGIT E., TALİM B., YERSAL N., ERGİN B., et al.
6th International Congress of the Molecular Biology Association of Turkey, Türkiye, 5 - 08 Eylül 2018, ss.5-6, (Özet Bildiri)
2018
20184. JÜVENİL DERMATOMİYOZİT HASTALARININ KAS BİYOPSİLERİNDE YARDIMCI T HÜCRE PROFİLLERİ
SAĞ E., ÖZEN S., Kale G., TALİM B., TOPALOGLU H.
4. Cocuk Romatoloji Kongresi, Türkiye, 4 - 07 Nisan 2018, (Özet Bildiri)
2017
20175. Desmin Mutation with an ultra rare and unique phenotype: Genome editing for a patient specific zebrafish model
Kayman Kürekçi G., Koyunlar C., Kural Mangıt E., Talim B., Korkusuz P., Erdem Özdamar S., et al.
keystone symposia Rare and Undiagnosed Diseases, Massachusetts, Amerika Birleşik Devletleri, 3 - 05 Ağustos 2017, (Özet Bildiri)
2017
20176. Modeling of a unique desmin mutaion in zebrafish by using genome editing brings new insights into desmin function
KAYMAN KÜREKÇİ G., Koyunlar C., KURAL MANGIT E., TALİM B., ERGİN B., ÜNSAL İ., et al.
European Human Genetics Conference, 27 - 30 Mayıs 2017, (Özet Bildiri)
2017
20177. Modeling of a unique desmin mutation in zebrafish by using genome editing brings new insights into desmin function
KAYMAN KÜREKÇİ G., KOYUNLAR C., KURAL MANGIT E., TALİM B., ERGİN B., ÜNSAL S., et al.
ESHG 2017, 27 - 30 Mayıs 2017, (Özet Bildiri)
2016
20168. The profile and natural history of congenital muscular dystrophies
Ardicli D., Genc H. M., SEYHAN K., Kahraman A., Akcil M., TALİM B., et al.
21st International Congress of the World-Muscle-Society, Granada, Nikaragua, 4 - 08 Ekim 2016, cilt.26, (Özet Bildiri)
2016
20169. Prenatal findings and autopsy examination in a newborn with multipleacyl CoA dehydrogenase deficiency
DOKUZBOY S., TALİM B., YİĞİT Ş., SİVRİ H. S., TOKATLI A., DURSUN A., et al.
SSIEM ROMA, 6 - 09 Eylül 2016, (Özet Bildiri)
2016
201610. Skeletal muscle expression of insulin like growth factor system elements in spinal muscular atrophy patients
YEŞBEK KAYMAZ A., TALİM B., BORA G., YURTER H.
5th International Congress of Myology, Lyon, Fransa, 14 - 18 Mart 2016, (Özet Bildiri)
2016
201611. Glutarik Asidemi Tip 2 Dismorfolojik İpuçları Veren Metabolik Bir Hastalık
AKGÜN DOĞAN Ö., ÜNSAL Y., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., DURSUN A., TALİM B., et al.
3. Nörometabolik Dismorfoloji Sempozyumu, Türkiye, 10 - 12 Mart 2016, (Tam Metin Bildiri)
2015
201512. Spinal müsküler atrofi hastalarının iskelet kasında insülin benzeri büyüme faktörleri ve bağlayıcı protein düzeylerinin araştırılması
Yeşbek Kaymaz A., Bora G., Yurter H., Talim B.
XIV. Ulusal Tibbi Biyoloji ve Genetik Kongresi, Muğla, Türkiye, 27 - 30 Ekim 2015, (Yayınlanmadı)
2015
201513. Çekirdek zarfı hastalıkları ile ilişkili yeni bir gen: TOR1AIP1 ve kas distrofisi
Kayman Kürekçi G., Talim B., Puralı N., Dinçer P. R.
14. Ulusal Tıbbi Biyoloji ve Genetik Kongresi, Muğla, Türkiye, 27 Ekim 2015, (Yayınlanmadı)
2015
201514. Inflammatory milieu of muscle biopsies and clinical features in juvenile dermatomyositis
SAĞ E., ÖZEN S., KALE G., TOPALOĞLU H. A., TALİM B.
20th International Congress of the World-Muscle-Society, Brighton, Birleşik Krallık, 30 Eylül - 04 Ekim 2015, cilt.25, (Özet Bildiri)
2015
201515. Etiological yield of muscle biopsy in the newborn period
Serdaroglu E., Haliloglu G., TALİM B., YİĞİT Ş., YURDAKÖK M., Topaloglu H.
20th International Congress of the World-Muscle-Society, Brighton, Birleşik Krallık, 30 Eylül - 04 Ekim 2015, cilt.25, (Özet Bildiri)
2015
201516. Spinal müsküler atrofi hastalarının iskeletkasında insulin benzeri büyüme faktörleri ve bağlayıcı protein düzeylerinin araştırılması
YEŞBEK KAYMAZ A., TALİM B., BORA TATAR G., YURTER H.
XIV. Ulusal Tıbbi Biyoloji ve Genetik kongresi, Fethiye, Türkiye, 27 Ekim 2015 - 30 Ekim 2014, (Özet Bildiri)
2013
201317. Torsin A-interacting protein 1/Lamina-associated polypeptide 1B in a form of limb-girdle muscular dystrophy: a novel gene related to nuclear envelopathies
Kayman Kürekçi G., Hayta B., Talim B., Puralı N., Dinçer P. R.
18. International Meeting of the World Muscle Society, California, Amerika Birleşik Devletleri, 05 Ekim 2013, ss.64, (Özet Bildiri)
2013
201318. A novel desmin mutation causes autosomal recessive limb girdle muscular dystrophy without features of myofibrillar myopathy
Cetin N., Balci-Hayta B., Gundesli H., KORKUSUZ P., PURALI N., TALİM B., et al.
18th International Congress of the World-Muscle-Society (WMS), California, Amerika Birleşik Devletleri, 1 - 05 Ekim 2013, cilt.23, ss.851-852, (Özet Bildiri)
2013
201319. Formyl-methionyl-leucyl-phenylalanine (fMLP) peptide as an adjuvant in experimental autoimmune encephalomyelitis (EAE): modulation of neutrophil granulocytes
KILIÇ A., Tuncer-Kurne A., ESENDAĞLI G., Sayat G., TALİM B., KARABUDAK R.
29th 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)
2006
200620. The first prenatal diagnosis in Muscle-Eye-Brain Disease
Balci B., Celebi A., Talim B., Dincer P., Topaloglu H.
11th International Congress on Neuromuscular Diseases, İstanbul, Türkiye, 2 - 07 Temmuz 2006, cilt.16, (Özet Bildiri)
2006
200621. Autosomal recessive limb-girdle muscular dystrophies (LGMD2s) in Turkey
Balci B., Talim B., Akcoeren Z., Caglar M., Kale G., Topaloglu H., et al.
11th International Congress on Neuromuscular Diseases, İstanbul, Türkiye, 2 - 07 Temmuz 2006, cilt.16, (Özet Bildiri)
2006
200622. Marinesco-Sjogren Syndrome and olivopontocerebellar hypoplasia with BAP/SIL mutations: report of a family with three siblings
Sonmez F. M., Gooding R., Talim B., Celep F., Kalaydjieva L., Topaloglu H.
11th International Congress on Neuromuscular Diseases, İstanbul, Türkiye, 2 - 07 Temmuz 2006, cilt.16, (Özet Bildiri)
2005
200523. Prenatal diagnosis in laminin alpha-2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of 5 international centers
Vainzof M., Richard P., Herrmann R., Jimenez-Mallebrera C., Talim B., Yamamoto L., et al.
10th International Congress of the World-Muscle-Society, Iguassu Falls, Brezilya, 28 Eylül - 10 Ekim 2005, cilt.15, ss.704, (Özet Bildiri)
2005
200524. EUROSMART: motor function and muscle strength in 110 patients with spinal muscular atrophy
Merlini L., Dahna-Schwake C., Febrer A., Hausmanova-Petruse I., Jedrzejonska M., Shapira Y., et al.
10th International Congress of the World-Muscle-Society, Iguassu Falls, Brezilya, 28 Eylül - 10 Ekim 2005, cilt.15, ss.724, (Özet Bildiri)
2005
200525. Focal segmental glomerulosclerosis associated with mitochondrial cytopathy: Report of two cases with special emphasis on podocytes
Gucer S., Talim B., Asan E., Ozen S., Kale G., Ozguc M., et al.
42nd Annual Meeting of the European-Renal-Association/European-Dialysis-and-Transplant-Association (ERA-EDTA), İstanbul, Türkiye, 4 - 07 Haziran 2005, cilt.20, (Özet Bildiri)
2004
200426. A floppy infant with nemaline rods and plus
Talim B., Sabatelli P., Haliloglu G., Akcoren Z., Caglar M., Topaloglu H.
9th International Congress of the World-Muscle-Society, Goteborg, İsveç, 1 - 04 Eylül 2004, cilt.14, ss.564-565, (Özet Bildiri)
2004
200427. Muscle pathology in childhood cases of calpainopathy
Talim B., Dincer P. R., Richard I., Aurino S., Akcoren Z., Haliloglu G., et al.
9th International Congress of the World-Muscle-Society, Goteborg, İsveç, 1 - 04 Eylül 2004, cilt.14, ss.605, (Özet Bildiri)
2004
200428. Apoptosis in Ullrich congenital muscular dystrophy
Talim B., Haliloglu G., Kale G., Topaloglu H.
9th International Congress of the World-Muscle-Society, Goteborg, İsveç, 1 - 04 Eylül 2004, cilt.14, ss.615, (Özet Bildiri)
2002
200229. Autosomal recessive limb-girdle muscular dystrophy with severe mental retardation: a new phenotype with glycosylation defects of alpha-dystroglycan
Dincer P. R., Balci B., Yuva Y., Talim B., Brockington M., Dincel D., et al.
7th International Congress of the World-Muscle-Society, Rotterdam, Hollanda, 2 - 05 Ekim 2002, cilt.12, ss.721, (Özet Bildiri)
Desteklenen Projeler
2014 - 2020
2014 - 2020İnflamatuar Myofibroblastik Tümörlerde IgG4 ve Yardımcı T Hücreleri
Yükseköğretim Kurumları Destekli Proje , BAP Diğer
TALİM B. (Yürütücü)