Takip et
Nihan Hande Akçakaya
Nihan Hande Akçakaya
Demiroğlu Bilim Üniversitesi, Tıp Fakültesi
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Başlık
Alıntı yapanlar
Alıntı yapanlar
Yıl
Clinical and genetic features of PKAN patients in a tertiary centre in Turkey
NH Akcakaya, SU Iseri, B Bilir, E Battaloglu, P Tekturk, M Gultekin, G Akar, ...
Clinical Neurology and Neurosurgery 154, 34-42, 2017
192017
A case of leukoencephalopathy and small vessels disease caused by a novel HTRA1 homozygous mutation
T Gündüz, Y Demirkol, Ö Doğan, S Demir, NH Akçakaya
Journal of Stroke and Cerebrovascular Diseases 28 (11), 104354, 2019
122019
Idiopathic intracranial hypertension: diagnosis and therapeutic approach
NH Akçakaya, MO Akçakaya, A Sencer, Z Yapıcı
Turkish Journal of Neurology 23 (2), 043-050, 2017
11*2017
Life-threatening parkinsonism-hyperpyrexia syndrome following bilateral deep brain stimulation of the subthalamic nucleus
MO Akçakaya, NH Akçakaya, MÖ Kasımcan, T Kırış
Neurologia i Neurochirurgia Polska 52 (2), 289-292, 2018
102018
De novo 8p23.1 deletion in a patient with absence epilepsy
NH Akcakaya, ÖY Capan, H Schulz, T Sander, SH Caglayan, Z Yapıcı
Epileptic Disorders 19 (2), 217-221, 2017
102017
A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia
Z Yapici, NH Akcakaya, P Tekturk, SAU Iseri, U Ozbek
Brain and Development 38 (8), 755-758, 2016
102016
Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1
T Takahashi, S Mercan, T Sassa, GB Akçapınar, K Yararbaş, S Süsgün, ...
Brain and Development 44 (6), 391-400, 2022
82022
A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X …
NH Akçakaya, B Salman, Z Görmez, Y Tarkan Argüden, A Çırakoğlu, ...
Neuromolecular medicine 21, 54-59, 2019
82019
Prechtl kalitatif genel hareket analizinin nörolojik değerlendirme ile korelasyonu: Süt çocuğu muayenesinde inspeksiyonun önemi
NH Akçakaya, T Altunalan, TD Doğan, A Yılmaz, Z Yapıcı
Turk Noroloji Dergisi 25 (2), 63, 2019
8*2019
Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype
NH Akçakaya, G Haryanyan, S Mercan, N Sozer, A Ali, T Tombul, ...
Neurologia i neurochirurgia polska 53 (6), 476-483, 2019
72019
A new splice-site mutation in SLC12A6 causing Andermann syndrome with motor neuronopathy
NH Akçakaya, Z Yapıcı, Cİ Tunca, P Tektürk, F Akçimen, AN Başak
Journal of Neurology, Neurosurgery & Psychiatry 89 (10), 1123-1125, 2018
62018
A case with CMTX1 disease showing transient ischemic-attack-like episodes
Z Aktan, NH Akcakaya, P Tekturk, E Deniz, B Koyuncu, Z Yapici
Neurologia i Neurochirurgia Polska 52 (2), 285-288, 2018
42018
Atypical enterovirus encephalitis causing behavioral changes and autism-like clinical manifestations: case report
NH Akcakaya, P Tekturk, A Cagatay, EK Tur, Z Yapici
Acta Neurologica Belgica 116, 679-681, 2016
42016
The differential diagnosis of “tigroid pattern” on brain magnetic resonance imaging: a case report
NH Akçakaya
Turk J Neurol 25, 98-9, 2019
32019
Clinical and genetic aspects of hereditary spastic paraplegia in patients from Turkey
NH Akçakaya, BÖ Ak, MA Gonzalez, S Züchner, E Battaloğlu, Y Parman
Neurologia i neurochirurgia polska 54 (2), 176-184, 2020
22020
Serebral Palsi ve Genetik
NH Akçakaya, Z Yapıcı, U Özbek
Turk J Neurol 24, 1-2, 2018
22018
Differential diagnosis approach to bilateral peripheral facial paralysis: a case report
BOSEB Periferik
Turk J Neurol 22, 196-198, 2016
22016
Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity
S Mercan, NH Akcakaya, B Salman, Z Yapici, U Ozbek, SA Ugur Iseri
Genes & Genomics 45 (1), 13-21, 2023
12023
Two cases with mitochondrial membrane protein-associated neurodegeneration: genetic features and long-term clinical follow-up
S Mercan, SA Ugur Iseri, R Yigiter, NH Akcakaya, E Saka, Z Yapici
Neurocase 28 (1), 37-41, 2022
12022
Evaluation of the Obstetrical Brachial Plexus Injuries with Forensic Perspective.
NH Akcakaya, MS Colak, A Sevin, K Gurpinar, H Asliyuksek, EK Orhan
Medical Bulletin of Haseki/Haseki Tip Bulteni 59 (5), 2021
12021
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