Yayınlar & Eserler

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler
Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

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 identifier

GNE miyopatisinde solunumsal problemler

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

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 identifier

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 identifier

Cognitive involvement in ATTR amyloidosis (TTR-FAP)

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

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 identifier

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 identifier

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 identifier

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 identifier

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 identifier

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 identifier

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 identifier

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 identifier

Congenital myasthenic syndromes in Turkey

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

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 identifier

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 identifier

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 identifier

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 identifier

CLINICAL AND GENETIC CHARACTERISTICS OF 20 ALS PATIENTS FROM TURKEY WITH <i>SOD1</i> MUTATIONS

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

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

Ocular myasthenia gravis

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

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 identifier

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 identifier

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 identifier

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 identifier

Genotypic and phenotypic presentation of TTR-FAP in Turkey

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

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 identifier

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 identifier

The distinct genetic pattern of ALS in Turkey

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

The distinct genetic pattern of ALS in Turkey

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

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 identifier

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 identifier

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

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 identifier

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 identifier

IN-HOSPITAL STROKE RECURRENCE OF ACUTE ISCEMIC STROKE

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

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 identifier

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 identifier

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 identifier

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

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

Devic's neuromyelitis optica: a prospective study

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

Konjenital Miyopatiler

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

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

156

Atıf (WoS)

844

H-İndeks (WoS)

15

Atıf (Scopus)

1002

H-İndeks (Scopus)

16

Atıf (Scholar)

255

H-İndeks (Scholar)

6

Proje

12

Tez Danışmanlığı

1

Açık Erişim

4
BM Sürdürülebilir Kalkınma Amaçları