Dr. Öğr. Üyesi BERİL TALİM

Yayın Ağı

Makaleler 68

1. 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)

2. 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)

3. 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)

4. 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) Sürdürülebilir Kalkınma

5. 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)

6. 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)

7. 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)

8. 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)

9. 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)

10. 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)

11. 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)

12. 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)

13. 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)

14. 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)

15. 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)

16. 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)

17. 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)

18. 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)

19. 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)

20. 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)

21. 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)

22. 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)

23. 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)

24. 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)

25. 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) Sürdürülebilir Kalkınma

26. 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)

27. 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)

28. 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)

29. 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)

30. 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) Sürdürülebilir Kalkınma

31. 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)

32. 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)

33. 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)

34. 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)

35. 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)

36. 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)

37. 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)

38. 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)

39. 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)

40. **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)

41. 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)

42. 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) Sürdürülebilir Kalkınma

43. 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)

44. 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)

45. 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)

46. 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) Sürdürülebilir Kalkınma

47. 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)

48. 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)

49. 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)

50. **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)

51. 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)

52. 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)

53. 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)

54. Lissencephaly type II

Topaloglu H., TALİM B.

MALFORMATIONS OF THE NERVOUS SYSTEM , cilt.87, ss.219-234, 2008 (SCI-Expanded, Scopus)

55. 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)

56. 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) Sürdürülebilir Kalkınma

57. 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)

58. 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) Sürdürülebilir Kalkınma

59. 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)

60. 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)

61. 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)

62. 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)

63. **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) Sürdürülebilir Kalkınma

64. 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)

65. 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)

66. 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)

67. 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)

68. 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 29

1. 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)

2. 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)

3. 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)

4. 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)

5. 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)

6. 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)

7. 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)

8. 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)

9. 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)

10. 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)

11. 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)

12. 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)

13. 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)

14. 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)

15. 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)

16. 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)

17. 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)

18. 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)

19. 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)

20. 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)

21. 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)

22. 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)

23. 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)

24. 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)

25. 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)

29. 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)

Metrikler

Yayın

150

Yayın (WoS)

122

Yayın (Scopus)

106

Atıf (WoS)

2558

H-İndeks (WoS)

Atıf (Scopus)

2879

H-İndeks (Scopus)

Atıf (Scholar)

331

H-İndeks (Scholar)

Proje

Açık Erişim

BM Sürdürülebilir Kalkınma Amaçları

Yayınlar & Eserler

Yayın

Yayın (WoS)

Yayın (Scopus)

Atıf (WoS)

H-İndeks (WoS)

Atıf (Scopus)

H-İndeks (Scopus)

Atıf (Scholar)

H-İndeks (Scholar)

Proje

Açık Erişim