Yayınlar & Eserler

Makaleler 100
Tümü (100)
SCI-E, SSCI, AHCI (95)
SCI-E, SSCI, AHCI, ESCI (99)
ESCI (2)
Scopus (98)
TRDizin (10)
Diğer Yayınlar (1)
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 76

2. Re-purposing Primidone as a RIPK1 inhibitor in OPTN-and TBK1-related ALS: a case series

30th Annual Congress of the World-Muscle-Society (WMS), Vienna, Avusturya, 7 - 11 Ekim 2025, cilt.53, (Özet Bildiri) identifier

3. Eculizumab as a rescue therapy in myasthenic crisis in ICU: a case series

30th Annual Congress of the World-Muscle-Society (WMS), Vienna, Avusturya, 7 - 11 Ekim 2025, cilt.53, (Özet Bildiri) identifier

5. Riboflavin Responsive Slowly Progressive Early Onset Motor Neuron Disease Caused by a Novel Mutation in AIFM1

Annual Meeting of the American-Academy-of-Neurology (AAN), California, Amerika Birleşik Devletleri, 5 - 09 Nisan 2025, cilt.104, (Özet Bildiri) identifier

6. GENETIC LANDSCAPE OF CHARCOT-MARIE-TOOTH DISEASE IN TURKIYE: DISTINCT DISTRIBUTION, RARE PHENOTYPES, AND NOVEL VARIANTS

Annual Meeting of the Peripheral-Nerve-Society (PNS), Montreal, Kanada, 22 - 25 Haziran 2024, cilt.29, ss.11, (Özet Bildiri)

7. Long-term follow-up of five families from Turkey with UBQLN2 variants

21st Annual Meeting of the Northeast-Amyotrophic-Lateral-Sclerosis-Consortium (NEALS), Florida, Amerika Birleşik Devletleri, 1 - 03 Kasım 2022, (Özet Bildiri) identifier

9. GNE miyopatisinde solunumsal problemler

Türk Toraks Derneği 25. Yıllık Kongresi, Antalya, Türkiye, 24 - 28 Mayıs 2022, ss.896, (Özet Bildiri)

10. An Exploratory Study of Cognitive Involvement in Hereditary Transthyretin Amyloidosis

Annual Meeting of the American-Academy-of-Neurology, Washington, Amerika Birleşik Devletleri, 2 - 07 Nisan 2022, (Özet Bildiri) identifier

14. Expanding the phenotypical spectrum of SACS mutation: A Single Center Experience

Virtual Annual Meeting of the American-Academy-of-Neurology, ELECTR NETWORK, 17 - 22 Nisan 2021, (Özet Bildiri) identifier

15. Cognitive involvement in transthyretin-related familial amyloid polyneuropathy (TTR-FAP)

Virtual Annual Meeting of the American-Academy-of-Neurology, ELECTR NETWORK, 17 - 22 Nisan 2021, (Özet Bildiri) identifier

16. Episodic psychosis, ataxia, motor neuropathy caused by a novel mutation in ADPRHL2

Virtual Conference of Peripheral-Nerve-Society, ELECTR NETWORK, 01 Ocak 2020, ss.558, (Özet Bildiri) identifier

17. Cognitive involvement in ATTR amyloidosis (TTR-FAP)

Virtual Conference of Peripheral-Nerve-Society, ELECTR NETWORK, 01 Ocak 2020, ss.527, (Özet Bildiri) identifier

20. 3 individuals with mutation in exon 1f of PLEC and myasthenic phenotype

6th Congress of the European-Academy-of-Neurology (EAN), ELECTR NETWORK, 23 - 26 Mayıs 2020, cilt.27, ss.1151, (Özet Bildiri) identifier

21. Clinical And Genetic Characteristics of Bethlem Myopathy Patients from Turkey

6th Congress of the European-Academy-of-Neurology (EAN), ELECTR NETWORK, 23 - 26 Mayıs 2020, cilt.27, ss.1158, (Özet Bildiri) identifier

23. Skin Biopsy as a Biomarker in Chronic Inflammatory Demyelinating Polyneuropathy

Annual Meeting of the American-Academy-of-Neurology, Toronto, Kanada, 25 Nisan - 01 Mayıs 2020, (Özet Bildiri) identifier

24. EPISODIC PSYCHOSIS, ATAXIA, MOTOR NEUROPATHY CAUSED BY A NOVEL MUTATION IN ADPRHL2

Annual Meeting of the American-Academy-of-Neurology, Toronto, Kanada, 25 Nisan - 01 Mayıs 2020, cilt.94, (Özet Bildiri) identifier

25. Studying Clinical and Genetic Characteristics of Emery-Dreifuss Muscular Dystrophy

Annual Meeting of the American-Academy-of-Neurology, Toronto, Kanada, 25 Nisan - 01 Mayıs 2020, cilt.94, (Özet Bildiri) identifier

26. Clinical and genetic features of SPG11: A Single Center Experience

Annual Meeting of the American-Academy-of-Neurology, Toronto, Kanada, 25 Nisan - 01 Mayıs 2020, cilt.94, (Özet Bildiri) identifier

28. Autosomal Recessive Charcot-Marie-Tooth Disease in Turkey

71st Annual Meeting of the American-Academy-of-Neurology (AAN), Pennsylvania, Amerika Birleşik Devletleri, 4 - 10 Mayıs 2019, cilt.92, (Özet Bildiri) identifier

29. GNE MYOPATHY in TURKEY: CLINICAL FEATURES AND NOVEL MUTATIONS

71st Annual Meeting of the American-Academy-of-Neurology (AAN), Pennsylvania, Amerika Birleşik Devletleri, 4 - 10 Mayıs 2019, cilt.92, (Özet Bildiri) identifier

30. Congenital myasthenic syndromes due to impaired principal coupling pathway in the epsilon-subunit of muscle acetylcholine receptor

23rd International Annual Congress of the World-Muscle-Society (WMS), Mendoza, Arjantin, 2 - 06 Ekim 2018, cilt.28, (Özet Bildiri) identifier

31. Congenital Myasthenic Syndromes (CMS) Due to Impaired Principal Coupling Pathway in the. Subunit of Muscle Acetylcholine Receptor (AChR)

70th Annual Meeting of the American-Academy-of-Neurology (AAN), Los-Angeles, Şili, 21 - 27 Nisan 2018, cilt.90, (Özet Bildiri) identifier

32. Clinical and Genetic Features in X-Linked Charcot-Marie-Tooth Neuropathy (CMT-X) Patients from Turkey

70th Annual Meeting of the American-Academy-of-Neurology (AAN), Los-Angeles, Şili, 21 - 27 Nisan 2018, cilt.90, (Özet Bildiri) identifier

34. GENOTYPIC AND PHENOTYPIC PRESENTATION OF TRANSTHYRETIN- RELATED FAMILIAL AMYLOID POLYNEUROPATHY (TTR-FAP) IN TURKEY

Peripheral-Nerve-Society Meeting, Sitges, İspanya, 8 - 12 Temmuz 2017, cilt.22, ss.276-277, (Özet Bildiri) identifier

35. Congenital myasthenic syndromes in Turkey

3rd Congress of the European-Academy-of-Neurology, Amsterdam, Hollanda, 01 Haziran 2017, cilt.24, ss.500, (Özet Bildiri) identifier

36. PAROKSİSMAL DİZARTRİ VE ATAKSİ ATAKLARIYLA BAŞVURAN LEPTOMENİNGEAL TUTULUMLA GİDEN MEME KANSERİ OLGUSU

52. ULUSAL NÖROLOJİ KONGRESİ, Antalya, Türkiye, 25 Kasım - 01 Aralık 2016, ss.97-98, (Özet Bildiri)

37. CHARCOT-MARIE-TOOTH DISEASE IN TURKEY: CLINICAL AND GENETIC FINDINGS FROM A SINGLE-CENTRE EXPERIENCE

Inflammatory Neuropathy Consortium and GBS 100 Centenary Symposium and Ceilidh, Glasgow, Birleşik Krallık, 21 - 24 Haziran 2016, cilt.21, ss.230-231, (Özet Bildiri) identifier

38. Clinical and Genetic Heterogeneity in Charcot-Marie-Tooth Neuropathy Type 2 Patients from Turkey

68th Annual Meeting of the American-Academy-of-Neurology (AAN), Vancouver, Kanada, 15 - 21 Nisan 2016, cilt.86, (Özet Bildiri) identifier

39. Clinical and Genetic Heterogeneity in Familial ALS Patients from Turkey

68th Annual Meeting of the American-Academy-of-Neurology (AAN), Vancouver, Kanada, 15 - 21 Nisan 2016, (Özet Bildiri) identifier

42. Evaluation of maximum oxygen utilization in McArdle patients before and after exercise training

20th International Congress of the World-Muscle-Society, Brighton, Birleşik Krallık, 30 Eylül - 04 Ekim 2015, cilt.25, (Özet Bildiri) identifier

43. Myophosphorylase (PYGM) mutations in Turkish patients with McArdle disease: A next generation sequencing study

20th International Congress of the World-Muscle-Society, Brighton, İngiltere, 30 Eylül - 04 Ekim 2015, (Özet Bildiri) identifier

44. GENETIC SURVEY OF A LARGE COHORT OF CMT PATIENTS FROM TURKEY REVEALED EQUAL FREQUENCIES OF CMT1A DUPLICATION AND HNPP DELETION

Biennial Meeting of the Peripheral-Nerve-Society, Quebec, Kanada, 27 Haziran - 02 Temmuz 2015, cilt.20, ss.205, (Özet Bildiri) identifier

45. Ocular myasthenia gravis

1st Congress of the European-Academy-of-Neurology, Berlin, Almanya, 20 - 23 Haziran 2015, cilt.22, ss.720, (Özet Bildiri) identifier

46. CLINICAL AND GENETIC CHARACTERISTICS OF 20 ALS PATIENTS FROM TURKEY WITH SOD1 MUTATIONS

Biennial Meeting of the Peripheral-Nerve-Society, Quebec, Kanada, 27 Haziran - 02 Temmuz 2015, ss.224-225, (Özet Bildiri) identifier

47. Reduced muscle mitochondrial enzyme activity in MuSK-immunized mice

1st Congress of the European-Academy-of-Neurology, Berlin, Almanya, 20 - 23 Haziran 2015, cilt.22, ss.720 identifier

50. Differential cytokine changes in myasthenia gravis patients with antibodies against AChR and Musk

12th International Congress of Neuroimmunology (ISNI), Mainz, Almanya, 9 - 13 Kasım 2014, cilt.275, ss.212-213, (Özet Bildiri) identifier

51. Dramatic improvement after injection augmentation in oculopharyngodistal myopathy

19th International Congress of the World-Muscle-Society, Berlin, Almanya, 7 - 11 Ekim 2014, cilt.24, ss.796, (Özet Bildiri) identifier

52. Late-onset non-thymomatous generalized myasthenia gravis

19th International Congress of the World-Muscle-Society, Berlin, Almanya, 7 - 11 Ekim 2014, cilt.24, ss.842, (Özet Bildiri) identifier

53. Tafamidis treatment in a patient with transthyretin amyloidosis due to domino liver transplantation

Joint Congress of European Neurology, İstanbul, Türkiye, 31 Mayıs - 03 Haziran 2014, cilt.21, ss.543, (Özet Bildiri) identifier

54. Whole exome sequencing analysis in recessive hereditary spastic paraplegia patients from Turkey

Joint Congress of European Neurology, İstanbul, Türkiye, 31 Mayıs - 03 Haziran 2014, cilt.261, (Özet Bildiri) identifier

55. Genotypic and phenotypic presentation of TTR-FAP in Turkey

Joint Congress of European Neurology, İstanbul, Türkiye, 31 Mayıs - 03 Haziran 2014, cilt.261, (Özet Bildiri) identifier

56. Genotypic and phenotypic presentation of TTR-FAP in Turkey

Joint Congress of European Neurology, İstanbul, Türkiye, 31 Mayıs - 03 Haziran 2014, cilt.21, ss.137, (Özet Bildiri) identifier

57. Exome sequencing vs phenotype directed gene screening in CMT patients from Turkey

Joint Congress of European Neurology, İstanbul, Türkiye, 31 Mayıs - 03 Haziran 2014, cilt.261, (Özet Bildiri) identifier

59. Exome sequencing vs. phenotype directed gene screening in CMT patients from Turkey

Joint Congress of European Neurology, İstanbul, Türkiye, 31 Mayıs - 03 Haziran 2014, cilt.21, ss.209, (Özet Bildiri) identifier

60. Tafamidis treatment in a patient with transthyretin amyloidosis due to domino liver transplantation

Joint Congress of European Neurology, İstanbul, Türkiye, 31 Mayıs - 03 Haziran 2014, cilt.261, (Özet Bildiri) identifier

62. The distinct genetic pattern of ALS in Turkey

Joint Congress of European Neurology, İstanbul, Türkiye, 31 Mayıs - 03 Haziran 2014, cilt.261, (Özet Bildiri) identifier

63. The distinct genetic pattern of ALS in Turkey

Joint Congress of European Neurology, İstanbul, Türkiye, 31 Mayıs - 03 Haziran 2014, cilt.21, ss.63, (Özet Bildiri) identifier

64. Genotype-Phenotype Evaluation In 476 Turkish Dystrophinopathy Patients

The 66th AAN Annual Meeting, Philadelphia, Amerika Birleşik Devletleri, 26 Nisan 2014 - 03 Mayıs 0215, ss.96, (Tam Metin Bildiri)

65. Distribution and Severity of Weakness in Patients with Polymyositis and Dermatomyositis: Different Pathophysiology, Different Affected Muscle Groups

65th Annual Meeting of the American-Academy-of-Neurology (AAN), California, Amerika Birleşik Devletleri, 16 - 23 Mart 2013, cilt.80, (Özet Bildiri) identifier

66. Clinical and Genetic Characteristics of Five Turkish Families with UBQLN2 Mutations

65th Annual Meeting of the American-Academy-of-Neurology (AAN), California, Amerika Birleşik Devletleri, 16 - 23 Mart 2013, cilt.80, (Özet Bildiri) identifier

67. IN-HOSPITAL STROKE RECURRENCE OF ACUTE ISCEMIC STROKE

21.European Stroke Conference, Lisbon, Portekiz, 22 - 24 Mayıs 2012, ss.651-652, (Özet Bildiri)

68. Using whole exome sequencing to identify the mutation causing oculopharyngodistal myopathy

United Kingdom Neuromuscular Translational Research Conference, Newcastle-Upon-Tyne, Birleşik Krallık, 22 - 23 Mart 2012, cilt.22, (Özet Bildiri) identifier

69. Clinical Features of the "Optineurin" Mutation in familial FTD and ALS

8th International Conference on Frontotemporal Dementias, Manchester, Birleşik Krallık, 5 - 07 Eylül 2012, cilt.33, ss.231, (Özet Bildiri) identifier

71. Anti-neuronal antibodies in Hashimoto's thyroiditis patients with central nervous system involvement

18th Meeting of the European-Neurological-Society, Nice, Fransa, 7 - 11 Haziran 2008, ss.139, (Özet Bildiri) identifier

72. Syndrome of transient headache and neurological deficits with cerebrospinal fluid lymphocytosis: is it auto-immune?

18th Meeting of the European-Neurological-Society, Nice, Fransa, 7 - 11 Haziran 2008, cilt.255, ss.216-217, (Özet Bildiri) identifier

73. Demographic and clinical statistics of multiple sclerosis and demyelinating diseases in an outpatients clinic, Istanbul Faculty of Medicine

23rd Congress of the European-Committee-for-Treatment-and-Research-in-Multiple-Sclerosis/12th Annual Conference of Rehabilitation in MS, Prague, Çek Cumhuriyeti, 11 - 14 Ekim 2007 identifier

74. Epileptic seizures in multiple sclerosis

23rd Congress of the European-Committee-for-Treatment-and-Research-in-Multiple-Sclerosis/12th Annual Conference of Rehabilitation in MS, Prague, Çek Cumhuriyeti, 11 - 14 Ekim 2007, cilt.13 identifier

76. Devic's neuromyelitis optica: a prospective study

17th Meeting of the European-Neurological-Society, Rhodes, Yunanistan, 16 - 20 Haziran 2007, ss.36 identifier
Kitaplar 3

2. Konjenital Miyopatiler

ÇOCUK VE ERGENDE NÖROLOJİK HASTALIKLARA YAKLAŞIMREHBER KİTABI, Ayşın DerventSemih AytaÖzlem ÇokarDerya Uludüz, Editör, Türk Nöroloji Derneği, ss.259-262, 2015

3. Juvenil Myastenia Gravis

ÇOCUK VE ERGENDE NÖROLOJİK HASTALIKLARAYAKLAŞIM REHBER KİTABI, Ayşın DerventSemih AytaÖzlem ÇokarDerya Uludüz, Editör, Türk Nöroloji Derneği, ss.320-324, 2015
Metrikler

Yayın

179

Yayın (WoS)

158

Yayın (Scopus)

98

Atıf (WoS)

1447

H-İndeks (WoS)

20

Atıf (Scopus)

1649

H-İndeks (Scopus)

20

Atıf (Scholar)

257

H-İndeks (Scholar)

6

Atıf (TrDizin)

1

H-İndeks (TrDizin)

1

Atıf (Diğer Toplam)

1

Proje

13

Tez Danışmanlığı

1

Açık Erişim

5
BM Sürdürülebilir Kalkınma Amaçları