Yayınlar & Eserler

Makaleler 127
Tümü (127)
SCI-E, SSCI, AHCI (123)
SCI-E, SSCI, AHCI, ESCI (127)
ESCI (3)
Scopus (126)
TRDizin (8)
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 116

1. 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)

2. 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

4. GNE miyopatisinde solunumsal problemler

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

5. 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

9. 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

10. 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

11. WRITER'S CRAMP: A SINGLE-CENTER EXPERIENCE

TOXINS Conference on Basic Science and Clinical Aspects of Botulinum and other Neurotoxins, ELECTR NETWORK, 16 - 17 Ocak 2021, cilt.190, (Özet Bildiri) identifier

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

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

14. 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

16. 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

17. 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

18. Transthyretin Familial Amyloid Polyneuropathy (TTR-FAP): A Database Analysis

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

19. 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

21. 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

22. 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

24. MCM3AP in recessive axonal neuropathy and mild intellectual disability

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.40-41, (Özet Bildiri) identifier

26. Developing a framework to optimise the ongoing assessment of ATTR-amyloidosis

4th Congress of the European-Academy-of-Neurology (EAN), Lisbon, Portekiz, 16 - 19 Haziran 2018, cilt.25, ss.148, (Özet Bildiri) identifier

27. 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

29. Anoctamin 5 muscular dystrophy mimicking metabolic myopathy

22nd International Annual Congress of the World-Muscle-Society (WMS), Saint-Lo, Fransa, 3 - 07 Ekim 2017, cilt.27, (Özet Bildiri) identifier

30. 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

31. MUTATION SPECTRUM IN A TURKISH CHARCOT-MARIE-TOOTH DISEASE COHORT

Peripheral-Nerve-Society Meeting, Sitges, İspanya, 8 - 12 Temmuz 2017, cilt.22, ss.255, (Özet Bildiri) identifier

32. 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

33. Cytokine Production in Myasthenia Gravis

13th International Conference on Myasthenia Gravis and Related Disorders, 15 - 17 Mayıs 2017, (Özet Bildiri)

34. MITOFUSIN 2 GENE MUTATIONS IN A TURKISH CHARCOT-MARIE-TOOTH DISEASE COHORT

Inflammatory Neuropathy Consortium and GBS 100 Centenary Symposium and Ceilidh, Glasgow, Birleşik Krallık, 21 - 24 Haziran 2016, cilt.21, ss.242, (Özet Bildiri) identifier

35. SPG11 IS AN OVERLAPPING GENE BETWEEN CHARCOT-MARIE-TOOTH DISEASE AND HEREDITARY SPASTIC PARAPLEGIA

Inflammatory Neuropathy Consortium and GBS 100 Centenary Symposium and Ceilidh, Glasgow, Birleşik Krallık, 21 - 24 Haziran 2016, cilt.21, ss.238-239, (Özet Bildiri) identifier

36. 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

37. 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

38. 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

40. Myasthenia gravis te B ve Düzenleyici B Hücreleri

7. DETAE Günleri, İstanbul, Türkiye, 12 - 13 Kasım 2015, (Özet Bildiri)

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. 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

45. 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

46. Ocular myasthenia gravis

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

47. 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

48. NOVEL MUTATIONS IN GENES CAUSING CHARCOT-MARIE-TOOTH NEUROPATHY AND HEREDITARY SPASTIC PARAPLEGIA IDENTIFIED BY HOMWES

Biennial Meeting of the Peripheral-Nerve-Society, Quebec, Kanada, 27 Haziran - 02 Temmuz 2015, cilt.20, ss.98, (Özet Bildiri) identifier

49. HIV Seyrinde Gelişen Nöropatiler: Olgu Sunumu

31. Ulusal Klinik Nörofizyoloji EEG - EMG Kongresi , Antalya, Türkiye, 8 - 12 Nisan 2015, ss.70, (Özet Bildiri)

51. 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

52. 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

53. 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

54. 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

55. 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

57. 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

58. 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

60. 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

61. Circulating follicular helper T cells in MG

2nd Molecular Immunology and Immunogenetics Congress, Türkiye, 27 - 30 Nisan 2014, (Özet Bildiri)

63. 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

64. 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. Botulinum Toksini Yüz Bölgesi Uygulamaları

8. Ulusal Parkinson Ve Hareket Bozuklukları Kongresi, Türkiye, 30 Eylül 2009

69. Muscle MRI in a filaminopathy family: Involvement of paraspinals is earlier and more severe than of thigh muscles

17th International Congress of the World-Muscle-Society (WMS), Perth, Avustralya, 9 - 13 Ekim 2012, cilt.22, ss.821-822, (Özet Bildiri) identifier

71. CLINICO-PATHOLOGICAL AND GENETIC STUDY OF FAMILIAL TRANSTHYRETIN-TYPE AMYLOID POLYNEUROPATHY

Meeting of the Peripheral-Nerve-Society, Maryland, Amerika Birleşik Devletleri, 25 - 29 Haziran 2011, cilt.16, (Özet Bildiri) identifier

72. EXPRESSION OF FGF1 AND FGFR1 IN MOUSE SCIATIC NERVE

Meeting of the Peripheral-Nerve-Society, Maryland, Amerika Birleşik Devletleri, 25 - 29 Haziran 2011, cilt.16, (Özet Bildiri) identifier

73. Botulinum toxin injections for the facial region

20th Meeting of the European-Neurological-Society, Berlin, Almanya, 19 - 23 Haziran 2010, cilt.257, (Özet Bildiri) identifier

78. Myasthenia gravis ’de B ve T Hücresi Sitokin Aktivitesi

20. Ulusal İmmünoloji Kongresi, Türkiye, 19 - 22 Kasım 2009, (Özet Bildiri)

81. Severe sleep apnea associated with adult onset Pompe disease: Improvement with alglucosidase alfa

14th International Congress of the World-Muscle-Society, Geneva, İsviçre, 9 - 12 Eylül 2009, cilt.19, ss.593-594, (Özet Bildiri) identifier

82. Myophosphorylase deficiency and calpainopathy in the same patient

14th International Congress of the World-Muscle-Society, Geneva, İsviçre, 9 - 12 Eylül 2009, cilt.19, ss.622, (Özet Bildiri) identifier

83. EXPRESSION OF FGFs AND THEIR RECEPTORS IN MOUSE DORSAL ROOT GANGLIA

Annual Meeting of the Peripheral-Nerve-Society, Würzburg, Almanya, 4 - 08 Temmuz 2009, cilt.14, ss.13-14, (Özet Bildiri) identifier

84. MULTIPLE ANALYSIS OF HEREDITARY SPASTIC PARAPLEGIA

Annual Meeting of the Peripheral-Nerve-Society, Würzburg, Almanya, 4 - 08 Temmuz 2009, cilt.14, ss.5, (Özet Bildiri) identifier

86. Anti-MuSK antibodies are not associated with prolonged pure ocular symptoms

13th International Congress of the World-Muscle-Society, Newcastle upon Tyne, İngiltere, 29 Eylül - 02 Ekim 2008, cilt.18, ss.749-750, (Özet Bildiri) identifier

87. Clinicopathological and genetic study of CMT2

13th International Congress of the World-Muscle-Society, Newcastle-Upon-Tyne, Birleşik Krallık, 29 Eylül - 02 Ekim 2008, cilt.18, ss.733, (Özet Bildiri) identifier

88. Nerve conduction studies in demyelinating CMT

18th Meeting of the European-Neurological-Society, Nice, Fransa, 7 - 11 Haziran 2008, cilt.255, ss.62-63, (Özet Bildiri) identifier

89. Longitudinal study confirming muscle strength deterioration in SMA IIIb

12th International Congress of the World-Muscle-Society, Giardini Naxos, İtalya, 17 - 20 Ekim 2007, cilt.17, ss.777, (Özet Bildiri) identifier

90. Prevalence of sporadic inclusion body myositis (s-IBM) in Turkey: A muscle biopsy based survey

12th International Congress of the World-Muscle-Society, Giardini Naxos, İtalya, 17 - 20 Ekim 2007, cilt.17, ss.849, (Özet Bildiri) identifier

91. Wide clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2 gene

11th International Congress of the World-Muscle-Society, Brugge, Belçika, 4 - 07 Ekim 2006, cilt.16, ss.664-665, (Özet Bildiri) identifier

92. Low levels of BAFF in serum of patients

11th International Congress of Neuromuscular Diseases, 2 - 07 Temmuz 2006, (Özet Bildiri)

93. Comparison of quantitative Myasthenia Gravis score between ANTI-MuSK positive and ANTI-MuSK negative patients

11th International Congress on Neuromuscular Diseases, İstanbul, Türkiye, 2 - 07 Temmuz 2006, cilt.16, (Özet Bildiri) identifier

94. MRI showing selective muscle involvement in SMA III

11th International Congress on Neuromuscular Diseases, İstanbul, Türkiye, 2 - 07 Temmuz 2006, cilt.16, (Özet Bildiri) identifier

95. Scapulothoracic arthrodesis with cable grip system in facioscapulohumeral dystrophy

11th International Congress on Neuromuscular Diseases, İstanbul, Türkiye, 2 - 07 Temmuz 2006, cilt.16, (Özet Bildiri) identifier

96. Central nervous system involvement in Duchenne Muscular Dystrophy

11th International Congress on Neuromuscular Diseases, İstanbul, Türkiye, 2 - 07 Temmuz 2006, cilt.16, (Özet Bildiri) identifier

97. In vitro immune response in Myasthenia Gravis patients with ANTI-MuSK or ANTI-AChR antibodies

11th International Congress on Neuromuscular Diseases, İstanbul, Türkiye, 2 - 07 Temmuz 2006, cilt.16, (Özet Bildiri) identifier identifier

98. Hereditary motor and sensory neuropathies (Charcot Marie Tooth Disease)

11th International Congress on Neuromuscular Diseases, İstanbul, Türkiye, 2 - 07 Temmuz 2006, cilt.16, (Özet Bildiri) identifier

99. Lung-muscle functions and sleep related breathing disorders in patients with amyotrophic lateral sclerosis

11th International Congress on Neuromuscular Diseases, İstanbul, Türkiye, 2 - 07 Temmuz 2006, cilt.16, (Özet Bildiri) identifier

100. Low levels of BAFF in the serum of patients

11th International Congress on Neuromuscular Diseases, İstanbul, Türkiye, 2 - 07 Temmuz 2006, cilt.16, (Özet Bildiri) identifier

102. Lung-muscle function tests and sleep related breathing disorders in patients with myopathies

11th International Congress on Neuromuscular Diseases, İstanbul, Türkiye, 2 - 07 Temmuz 2006, cilt.16, (Özet Bildiri) identifier

103. Riboflavin responsive 'glutaric aciduria' with prominent diaphragm weakness: a case report

11th International Congress on Neuromuscular Diseases, İstanbul, Türkiye, 2 - 07 Temmuz 2006, cilt.16, (Özet Bildiri) identifier

108. Clinicopathological and genetic study of demyelinating CMT

Meeting of the Peripheral Nerve Society, Tuscany, İtalya, 01 Temmuz 2005, cilt.10, ss.71, (Özet Bildiri) identifier

109. Toxic neuropathies presenting with "swollen axons"

14th Meeting of the European-Neurological-Society, Barcelona, İspanya, 26 - 30 Haziran 2004, cilt.251, ss.110, (Özet Bildiri) identifier

110. Malignant lymphoma and chronic inflammatory demyelinating polyneuropathy: a case report

7th International Congress of Mediterranean Society of Myology, Aydın, Türkiye, 27 - 30 Mayıs 2004, cilt.23, sa.12, ss.51, (Özet Bildiri)

111. Onset with limb weakness in myasthenia gravis: frequent presentation with leg weakness in the second decade

8th International Congress of the World-Muscle-Society, Szeged, Macaristan, 3 - 06 Eylül 2003, cilt.13, ss.662, (Özet Bildiri) identifier

112. Genotype/phenotype correlation of Turkish FSHD patients

8th International Congress of the World-Muscle-Society, Szeged, Macaristan, 3 - 06 Eylül 2003, cilt.13, ss.633, (Özet Bildiri) identifier

113. Central nervous system involvement in X-linked Charcot-Marie-Tooth disease

8th International Congress of the World-Muscle-Society, Szeged, Macaristan, 3 - 06 Eylül 2003, cilt.13, ss.653, (Özet Bildiri) identifier

115. Clinico-pathological and genetic study of 3 families with familial transthyretin-type amyloid polypeuropathy

7th International Congress of the World-Muscle-Society, Rotterdam, Hollanda, 2 - 05 Ekim 2002, cilt.12, ss.780, (Özet Bildiri) identifier

116. Change in muscle strength through one year in FSHD and distal myopathy: a natural history study

7th International Congress of the World-Muscle-Society, Rotterdam, Hollanda, 2 - 05 Ekim 2002, cilt.12, ss.740, (Özet Bildiri) identifier
Kitaplar 2

2. RECESSIVELY TRANSMITTED PREDOMINANTLY MOTOR NEUROPATIES

HANDBOOK OF CLINICAL NEUROLOGY, "SAID G.", "KRARUPP C.", Editör, Elsevıer, Washington, ss.846-861, 2013
Metrikler

Yayın

245

Yayın (WoS)

209

Yayın (Scopus)

126

Atıf (WoS)

5747

H-İndeks (WoS)

29

Atıf (Scopus)

6712

H-İndeks (Scopus)

32

Atıf (Scholar)

622

H-İndeks (Scholar)

11

Atıf (Diğer Toplam)

39

Proje

21

Açık Erişim

9
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