Publications by authors named "Ayten Gulec"

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Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.
Natalia Dominik, Stephanie Efthymiou, Christopher J Record, Xinyu Miao, Renee Q Lin

J Clin Invest· December 2025

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L-DOPA in diurnal fluctuating dystonia: two different clinical presentations, one treatment.
Beyza Karataş, Ayten Güleç, Ömer YiğitSezer, Hakan Gumus, Busra Aynekin

Neurogenetics· December 2025

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Acute Disseminated Encephalomyelitis in Children and Adolescents: A Multicenter Retrospective Study of Relapse and Outcome.
Seda Kanmaz, Sanem Yılmaz, Nihal Olgaç Dündar, Ayşe Aksoy, Mehmet Canpolat

J Child Neurol· November 2025

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Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33.
Busra Aynekin, Bahadır M Samur, Ummu Gulsum Ozgul Gumus, Kaya Bilguvar, Ayten Gulec

Mol Syndromol· October 2025

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Blended Phenotypes of Sexual Development Disorder and Coenzyme Q10 Deficiency, Together with a Sibling with Homozygous Variants in the Gene.
Rumeysa Atasay, Leyla Nur Yilmaz, Ayten Gulec, Mehmet Canpolat, Huseyin Per

Mol Syndromol· May 2025

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The clinical presentation and genetic diagnosis of Tangier disease in the pediatric age group.
Selcan Öztürk, Muhammet Ensar Doğan, Banu Kadıoğlu Yılmaz, Ayten Güleç, Pembe Soylu Üstkoyuncu

J Pediatr Endocrinol Metab· March 2025

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Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families.
Busra Aynekin, Sinan Akbaş, Ayten Gulec, Ummu Gulsum Ozgul Gumus, Abdullah Emre Guner

Neurogenetics· January 2025

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Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype.
Emine Karatas, Ayten Gulec, Maide Korkmaz, Zehra Filiz Karaman, Aslihan Kiraz

Neurogenetics· December 2024

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Molecular analysis of and gene deletions and relationships with clinical subtypes of spinal muscular atrophy.
Nilgun Karasu, Hamit Acer, Hilal Akalin, Burcu Turkgenc, Mikail Demir, Ayten Gulec

J Neurogenet· September 2024

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Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy.
Angela Clara-Hwang, Stefani Stefani, Tracy Lau, Marcello Scala, Busra Aynekin

Neurol Genet· August 2024

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Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth.
Frederike L Harms, Jessica Erin Rexach, Stephanie Efthymiou, Busra Aynekin, Hüseyin Per

Eur J Hum Genet· May 2024

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Pediatric-Onset Chronic Inflammatory Demyelinating Polyneuropathy: A Multicenter Study.
Gamze Sarıkaya Uzan, Atay Vural, Deniz Yüksel, Erhan Aksoy, Ülkühan Öztoprak

Pediatr Neurol· August 2023

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Congenital Myasthenic Syndromes in Turkey: Clinical and Molecular Characterization of 16 Cases With Three Novel Mutations.
Selcan Öztürk, Ayten Güleç, Murat Erdoğan, Mikail Demir, Mehmet Canpolat

Pediatr Neurol· November 2022

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