Yazar "Aksu Uzunhan, Tuğçe" için listeleme
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Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome
Aksu Uzunhan, Tuğçe; Ertürk, Biray; Aydın, Kürşad; Ayaz, Akif; Altunoğlu, Umut; Yarar, Murat Hakkı; Gezdirici, Alper; İçağasıoğlu, Dilara Füsun; Gökpınar İli, Ezgi; Uyanık, Bülent; Eser, Metin; Kutbay, Yaşar Bekir; Topçu, Yasemin; Kılıç, Betül; Bektaş, Gonca; Arduç Akçay, Ayfer; Ekici, Barış; Chousein, Amet; Avcı, Şahin; Yüksel, Atıl; Kayserili, Hülya (Elsevier B.V., 2023)Objective: Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments. More than 40 genes have been associated with Joubert ... -
Evaluation of laboratory findings, clinical features and rates of diagnosis of patients admitted to outpatient clinic of pediatric neurology with neuromuscular manifestations
Aksu Uzunhan, Tuğçe; Ertürk, Biray; Özyavuz Çubuk, Pelin; Uyanık, Bülent; Ayaz, Akif; Akan, Onur; Özdemir, Taha Reşid (Dr. Behcet Uz Pediatric Hospital, 2020)Objective: Our aim is to evaluate how many patients with neuromuscular manifestations get a definite diagnosis and which methods are used in the pathway to diagnosis as well as to assess patient characteristics.Methods: ... -
A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation
Aksu Uzunhan, Tuğçe; Çakar, Nafiye Emel; Seyhan, Serhat; Aydın, Kürşad (Elsevier, 2020)Background: Genetic defects in the NFU1, an iron-sulfur cluster scaffold protein coding gene, which is vital in the final stage of assembly for iron sulfur proteins, have been defined as multiple mitochondrial dysfunctions ... -
Homozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblings
Aksu Uzunhan, Tuğçe; Ayaz, Akif (Elsevier B.V., 2022)Neurexins (NRXNs) are cell-adhesion molecules that play critical roles in establishing and maintaining synaptic connections. Humans have three NRXN genes (NRXN1, NRXN2, NRXN3) and heterozygous intragenic microdeletions ... -
Interacting with AP1 complex mutated synergin gamma (SYNRG) reveals a novel coatopathy in the form of complicated hereditary spastic paraplegia
Ayaz, Akif; Aksu Uzunhan, Tuğçe; Aydın, Kürşad (Elsevier, 2022)Background: Today, it is known that about 80 genes are involved in the etiology of hereditary spastic paraplegia. However, there are many cases whose etiology could not be determined by extensive genetic tests such as ... -
Normal neonatal electroencephalography and maturation of electroencephalography during neonatal period
Aksu Uzunhan, Tuğçe; Ay, Halil; Aydın, Kürşad; Çalık, Mustafa; Çarman, Kürşat Bora; Deda, Giuseppe; Çobanoğulları Direk, Meltem; Dolu, Merve Hilal; Duman, Okan; Erçelebi, Hakan; Ethemoğlu, Özlem; Gençpınar, Pınar; Gökben, Sarenur; Günbey, Ceren; Hasanoglu, Canan; Haspolat, Şenay; Kanmaz, Seda; Karalok, Zeynep Selen; Kaya Özçora, Gül Demet; Kırık, S.; Kömür, Mustafa; Okuyaz, Çetin; Olgaç Dündar, Nihal; Özbudak, Pınar; Öztopark, U.; Serdaroğlu, Ayşe; Sönmez, Fatma Müjgan; Şimşek, E.; Taşdemir, Haydar Ali; Tekgül, Hasan; Turanlı, Güzide; Türkdoğan, Dilşad; Ünay, Bülent; Ünver, O.; Yalnızoğlu, Dilek; Yarar, Coşkun (Türkiye Klinikleri, 2019)Despite evolving technologies, electroencephalography (EEG) remains a powerful tool for neurological diagnosis and prognosis in both preterm and term neonates. Neonatal EEG is different from children and adult's EEG ...