Tuğçe Aksu Uzunhan

Congenital myasthenic syndromes in Türkiye: genetic and clinical spectrum revisited in a nationwide pediatric cohort

Canan Üstün, İpek Polat, Gülten Öztürk, Olcay Ünver et autres

kh, tr, ag (code pays fourni par la source)

Congenital myasthenic syndromes in Türkiye: genetic and clinical spectrum revisited in a nationwide pediatric cohort.

Canan Üstün, İpek Polat, Gülten Öztürk, Olcay Ünver et autres

Congenital myasthenic syndromes (CMS) are inherited disorders caused by defects in proteins essential for neuromuscular transmission. In this nationwide, multicenter retrospective study, we analyzed 133 genetically confirmed CMS cases from 118 unrelated families between 2017 and 2024 across 28 centers in Türkiye. …

kh, tr, ag (code pays fourni par la source)

Otizm Biyobelirteçleri ve Güncel Gelişmeler

Seray Ağca Haşimoğlu, Tuğçe Aksu Uzunhan

Çocukluk Çağında Otizm Spektrum Bozukluğu

Serkan Kırık, Fatma Sargın, Hurşit Ferahkaya, Ahmet Sami Güven et autres

-

tr (code pays fourni par la source)

Neonatal-onset genetic epilepsies: Insights from a large multicentre cohort

Günce Başarır, Pınar Gençpınar, Sema Bozkaya Yılmaz, Berk Özyılmaz et autres

tr, kh, ag (code pays fourni par la source)

Improvement in Toe Walking Associated with Triple A Syndrome After Hydrocortisone Treatment for Adrenal Insufficiency.

Nihal Kazar Hakgör, Tuğçe Aksu Uzunhan, Diğdem Bezen, Birol Öztürk et autres

tr, ag (code pays fourni par la source)

Response to: POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotypes

Cansu Altuntaş, Tuğçe Aksu Uzunhan, Biray Ertürk, Mey Talip Petmezci et autres

tr (code pays fourni par la source)

Subacute Sclerosing Panencephalitis Mimicking Posterior Circulation Ischemic Stroke

Zeynep Gör, Tuğçe Aksu Uzunhan, Özge Yapıcı, Sibel Üstün Özek et autres

A bstract Subacute sclerosing panencephalitis (SSPE) is a progressive neurodegenerative disease that develops 2–10 years after a measles infection. The diagnosis is possible through history, electroencephalography findings, and measles antibodies in the cerebrospinal fluid. Magnetic resonance imaging (MRI) is also an assistive …

tr (code pays fourni par la source)

A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy

Cansu Altuntaş, Tuğçe Aksu Uzunhan, Biray Ertürk, Mey Talip Petmezci et autres

tr (code pays fourni par la source)

Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study

Çağatay Günay, Duygu Aykol, Özlem Özsoy, Ece Sönmezler et autres

BACKGROUND: Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to identify ID-related shared pathways and …

tr (code pays fourni par la source)

Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome

Tuğçe Aksu Uzunhan, Biray Ertürk, Kürşad Aydın, Akif Ayaz et autres

tr (code pays fourni par la source)

Evaluation of Vitamin B12 Deficiency in Hospitalized Infants: A 5-Year Experience

Yelda Türkmenoğlu, Tuğçe Aksu Uzunhan, Emine Türkkan, Ayşenur Levent et autres

Objective: Vitamin B12 deficiency in children can manifest itself with neurodevelopmental retardation, convulsion, hypotonia, tremor, faltering growth, and anemia. This retrospective study aims to compare the clinical and laboratory findings of infants with severe and non-severe vitamin B12 deficiency. Methods: Children, hospitalized …