Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.

Autor: Cavusoglu D; Departments of Pediatric Neurology, Afyonkarahisar Health Sciences University, Afyon, Turkey., Ozturk G; Departments of Pediatric Neurology, Marmara University, Istanbul, Turkey., Turkdogan D; Departments of Pediatric Neurology, Marmara University, Istanbul, Turkey., Kurul SH; Departments of Pediatric Neurology, Dokuz Eylul University, Izmir, Turkey., Yis U; Departments of Pediatric Neurology, Dokuz Eylul University, Izmir, Turkey., Komur M; Departments of Pediatric Neurology, Mersin University, Mersin, Turkey., Incecik F; Departments of Pediatric Neurology, Cukurova University, Adana, Turkey., Kara B; Departments of Pediatric Neurology, Kocaeli University, Kocaeli, Turkey., Sahin T; Departments of Pediatric Neurology, Bezmialem Vakif University, Istanbul, Turkey., Unver O; Departments of Pediatric Neurology, Marmara University, Istanbul, Turkey., Dilber C; Departments of Pediatric Neurology, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey., Mert GG; Departments of Pediatric Neurology, Cukurova University, Adana, Turkey., Gunay C; Departments of Pediatric Neurology, Dokuz Eylul University, Izmir, Turkey., Uzan GS; Departments of Pediatric Neurology, Dokuz Eylul University, Izmir, Turkey., Ersoy O; Departments of Pediatric Neurology, Mersin University, Mersin, Turkey., Oktay Y; Izmir International Biomedicine and Genome Institute, Dokuz Eylül University, Izmir, Turkey., Mermer S; Departments of Medical Genetics, Mersin University, Mersin, Turkey., Tuncer GO; Departments of Pediatric Neurology, Ondokuz Mayıs University, Samsun, Turkey., Gungor O; Departments of Pediatric Neurology, Pamukkale University, Denizli, Turkey., Ozcora GDK; Departments of Pediatric Neurology, Hasan Kalyoncu University, Gaziantep, Turkey., Gumus U; Departments of Medical Genetics, Dr Ersin Arslan Training and Research Hospital, Gaziantep, Turkey., Sezer O; Departments of Medical Genetics, Samsun Training and Research Hospital, Samsun, Turkey., Cetin GO; Departments of Medical Genetics, Pamukkale University, Denizli, Turkey., Demir F; Departments of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Turkey., Yilmaz A; Departments of Pediatric Neurology, Ankara Training and Research Hospital, Ankara, Turkey., Gurbuz G; Departments of Pediatric Neurology, Tekirdag Namik Kemal University, Tekirdag, Turkey., Topcu M; Departments of Pediatric Neurology, Hacettepe University,Retired Lecturer, Ankara, Turkey., Topaloglu H; Departments of Pediatric Neurology, Yeditepe University, Istanbul, Turkey., Ceylan AC; Departments of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Turkey., Ceylaner S; Intergen Genetic Research Center, Ankara, Turkey., Gleeson JG; Department of Neurosciences and Pediatrics, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, La Jolla, San Diego, CA, USA., Icagasioglu DF; Departments of Pediatric Neurology, Bezmialem Vakif University, Istanbul, Turkey., Sonmez FM; Departments of Pediatric Neurology, Department of Child Neurology, Karadeniz Technical University Medical Faculty, Retired Lecturer, Trabzon, Turkey. mjgsonmez@yahoo.com.; Yuksek Ihtisas University, Faculty of Medicine, Ankara, Turkey. mjgsonmez@yahoo.com.; Aziziye Mah. Cinnah Cad. 102/3, Cankaya, Ankara, Türkiye. mjgsonmez@yahoo.com.

Publikováno v: Cerebellum (London, England) [Cerebellum] 2024 Oct; Vol. 23 (5), pp. 1950-1965. Date of Electronic Publication: 2024 Apr 15.

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Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy.

Autor: Cavusoglu D; Department of Pediatric Neurology, Faculty of Medicine, Afyonkarahisar Health Sciences University, Afyon, Turkey., Talim B; Department of Pediatrics, Pathology Unit, Hacettepe University, Ankara, Turkey., Ekinci G; Department of Radiology, Yeditepe University School of Medicine, Istanbul, Turkey., Topaloglu H; Department of Pediatrics, Yeditepe University, Istanbul, Turkey.

Publikováno v: Journal of neuromuscular diseases [J Neuromuscul Dis] 2024; Vol. 11 (4), pp. 883-887.