Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Uluç Yis"'
Publikováno v:
Journal of Behçet Uz Children's Hospital, Vol 14, Iss 2, Pp 81-90 (2024)
Objective: Headache during childhood is a common condition. Although recent studies have shown that the autonomic nervous system (ANS) in adult migraine patients is affected, there are few studies evaluating this relationship in children. Adult migra
Externí odkaz:
https://doaj.org/article/5f19825bf7ba419bb0c5f51718439702
Autor:
Mehmet Can Yeşilmen, Çağatay Günay, Gamze Sarıkaya Uzan, Özlem Özsoy, Semra Hız Kurul, Elif Yaşar, Uluç Yiş
Publikováno v:
Journal of Behçet Uz Children's Hospital, Vol 13, Iss 3, Pp 203-206 (2023)
Pseudotumor cerebri syndrome (PTCS) is characterized by the presence of elevated intracranial pressure in the environment of intact brain parenchyma and cerebrospinal fluid (CSF). PTCS can occur in pediatric populations and cause permanent vision los
Externí odkaz:
https://doaj.org/article/68bdbc2f84744e4cb01f8aac429e7a26
Autor:
İpek Polat, Ayşe Semra Hız, Uluç Yiş, Müge Ayanoğlu, Derya Okur, Erhan Bayram, Hüseyin Burak Baykara
Publikováno v:
Journal of Behçet Uz Children's Hospital, Vol 12, Iss 2, Pp 107-115 (2022)
Objective: Epilepsy and electroencephalography (EEG) abnormalities are more commonly seen in autism spectrum disorder (ASD). The aim of the present study is determine the risk factors that cause epilepsy, seizures and EEG abnormalities in cases with
Externí odkaz:
https://doaj.org/article/8bb8e35ed9184237b8ec62592392d2d3
Autor:
Çağatay Günay, Cem Paketçi, Gamze Sarıkaya Uzan, Didem Soydemir, Önder Karakaya, Duygu Elitez, Semra Hız Kurul, Uluç Yiş
Publikováno v:
Journal of Behçet Uz Children's Hospital, Vol 12, Iss 1, Pp 81-90 (2022)
Objective: Pediatric neurology opinion is one of the most frequently requested consultations in emergency service practice. Symptoms and/or signs such as headache, altered consciousness, seizures, and focal neurological deficits are the most common c
Externí odkaz:
https://doaj.org/article/3b1967c5fe0b4bf59e102062e8bf4bc8
Autor:
Çağatay Günay, Cem Paketçi, Pınar Edem, Gamze Sarıkaya Uzan, Ayşe Semra Hız Kurul, Zümrüt Arslan Gülten, Pelin Teke Kısa, Nur Arslan, Uluç Yıs
Publikováno v:
Journal of Behçet Uz Children's Hospital, Vol 12, Iss 1, Pp 27-36 (2022)
Objective: Due to the fact that mitochondrial diseases can involve different organ systems, neuromuscular involvement is frequently observed and has a substantial place in clinical practice. In this study, the clinical, radiological, electrophysiolog
Externí odkaz:
https://doaj.org/article/f2cf20a896a44f0f84ff2bb575993c9f
Publikováno v:
Annals of Indian Academy of Neurology, Vol 17, Iss 4, Pp 437-440 (2014)
Metabolic myopathies due to disorders of lipid metabolism are a heterogeneous group of diseases. Newborns may present with hypotonia and convulsions, while progressive proximal muscle weakness or recurrent episodes of muscle weakness accompanied by r
Externí odkaz:
https://doaj.org/article/d289a6f132c1470fa2dca2f7bbc3384a
Autor:
Francesca Magrinelli, Elisa Cali, Vinícius Lopes Braga, Uluç Yis, Hoda Tomoum, Hanan Shamseldin, Julian Raiman, Christoph Kernstock, Flávio Moura Rezende Filho, Orlando Graziani Povoas Barsottini, Robert W. Taylor, Elsebet Østergaard, Abdullah Tamim, Karin Schäferhoff, Juliana Maria Ferraz Sallum, Maha S. Zaki, Fernando Kok, Kailash P. Bhatia, Bernd Wissinger, Kate Sergeant, Tobias B. Haack, Rita Horvath, Semra Hiz, Fowzan S. Alkuraya, Henry Houlden, José Luiz Pedroso, Reza Maroofian
Publikováno v:
Magrinelli, F, Cali, E, Braga, V L, Yis, U, Tomoum, H, Shamseldin, H, Raiman, J, Kernstock, C, Rezende Filho, F M, Povoas Barsottini, O G, Taylor, R W, Ostergaard, E, Tamim, A, Schaeferhoff, K, Ferraz Sallum, J M, Zaki, M S, Kok, F, Bhatia, K P, Wissinger, B, Sergeant, K, Haack, T B, Horvath, R, Hiz, S, Alkuraya, F S, Houlden, H, Pedroso, J L & Maroofian, R 2022, ' Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy ', Movement Disorders Clinical Practice, vol. 9, no. 2, pp. 218-228 . https://doi.org/10.1002/mdc3.13398
Background Biallelic loss-of-function NDUFA12 variants have hitherto been linked to mitochondrial complex I deficiency presenting with heterogeneous clinical and radiological features in nine cases only. Objectives To fully characterize, both phenoty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac1e8bb8862ff5a7211b2d88954591bc
https://curis.ku.dk/ws/files/305536910/Movement_Disord_Clin_Pract_2021_Magrinelli_Biallelic_Loss_of_Function_NDUFA12_Variants_Cause_a_Wide_Phenotypic.pdf
https://curis.ku.dk/ws/files/305536910/Movement_Disord_Clin_Pract_2021_Magrinelli_Biallelic_Loss_of_Function_NDUFA12_Variants_Cause_a_Wide_Phenotypic.pdf
Autor:
Francesca, Magrinelli, Elisa, Cali, Vinícius Lopes, Braga, Uluç, Yis, Hoda, Tomoum, Hanan, Shamseldin, Julian, Raiman, Christoph, Kernstock, Flávio Moura, Rezende Filho, Orlando Graziani Povoas, Barsottini, Robert W, Taylor, Elsebet, Østergaard, Abdullah, Tamim, Karin, Schäferhoff, Juliana Maria Ferraz, Sallum, Maha S, Zaki, Fernando, Kok, Kailash P, Bhatia, Bernd, Wissinger, Kate, Sergeant, Tobias B, Haack, Rita, Horvath, Semra, Hiz, Fowzan S, Alkuraya, Henry, Houlden, José Luiz, Pedroso, Reza, Maroofian
Publikováno v:
Movement disorders clinical practice. 9(2)
Biallelic loss-of-functionTo fully characterize, both phenotypically and genotypically,We collected data from cases identified by screening genetic databases of several laboratories worldwide and systematically reviewed the literature.Nine unreported
Autor:
Janine Altmüller, Mert Karakaya, Peter Nürnberg, ral imath, Uluç Yis, Brunhilde Wirth, Özmert Ma Özdemir, Ceren Ç imath, Selcan Zeynep, Hacer Ergin
Publikováno v:
Posters.
Introduction Biologically active forms of riboflavin, which is an important factor in myelin synthesis, are important cofactors of carbohydrate, amino acid, and lipid metabolism. The mutations in the riboflavin transporter genes (SLC52A2, SLC52A3) ca
Publikováno v:
Annals of Indian Academy of Neurology, Vol 26, Iss 3, Pp 293-296 (2023)
Externí odkaz:
https://doaj.org/article/1382026ed53a4fb3b41dc782bc647fcd