-
1
المؤلفون: Bedia Samanci, Esra Battaloglu, Seden Tezel, Erdi Şahin, Başar Bilgiç, Ayse Candayan, A. Nazli Basak, Hacer Durmus, Yesim Parman, Hasmet Hanagasi, Arman Çakar
المصدر: Acta Neurologica Belgica. 122:939-945
مصطلحات موضوعية: Adult, Gait Ataxia, medicine.medical_specialty, Pediatrics, Ataxia, Neurology, Cerebellar Ataxia, Bilateral Vestibulopathy, Late onset, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, 030212 general & internal medicine, Vestibular areflexia, Cerebellar ataxia, business.industry, Peripheral Nervous System Diseases, Syndrome, General Medicine, Middle Aged, medicine.disease, Bilateral vestibulopathy, Vestibular Diseases, Sensation Disorders, Neurology (clinical), medicine.symptom, business, Polyneuropathy, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83d1e2100ae43e04ffddb74f5c79656cTest
https://doi.org/10.1007/s13760-021-01721-2Test -
2
المؤلفون: Hacer Durmus, Said Hashemolhosseini, Isin Baral Kulaksizoglu, Yesim Parman, Evren Önay Uçar, Serdar Ceylaner, Heinrich Sticht, Elif Mertoğlu
المصدر: Neurological Sciences. 42:3871-3878
مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Psychosis, Pes cavus, Weakness, Ataxia, Neurology, Cerebellar Ataxia, Glycoside Hydrolases, Dermatology, Young Adult, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, 030212 general & internal medicine, Child, business.industry, Neurodegeneration, General Medicine, Postural tremor, medicine.disease, Psychiatry and Mental health, medicine.anatomical_structure, Psychotic Disorders, Mutation, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Sensory nerve
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68397fc2d003eeb228645cc4d972be67Test
https://doi.org/10.1007/s10072-021-05100-wTest -
3
المؤلفون: Mefkure Eraksoy, Onder Us, Sibel Ertan, Hacer Durmus, Filiz Koç, Nazan Saner, Şeyma Tekgül, Pinar Tekturk, Cemile Kocoglu, Gençer Genç, Robin Palvadeau, Feza Deymeer, Güneş Kızıltan, Ece Kartal, Hulya Apaydin, Sevda Erer Özbek, Cenk Akbostanci, Suna Lahut, Yesim Parman, Erdi Şahin, Dilcan Kotan, Hülya Tireli, Murat Gultekin, Zeynep Özözen Ayas, Ersin Tan, Sibel Özekmekçi, Irmak Şahbaz, Hamit Acer, Zeynep Tufekcioglu, Dilek Ince Gunal, Hasmet Hanagasi, İhsan Şükrü Şengün, Arman Çakar, Esen Saka Topcuoglu, Gülşah Şimşir, Gülden Akdal, Elif Bayraktar, Fulya Akçimen, Ayşe Bora Tokçaer, Aysegul Gunduz, Uluç Yiş, Gul Serdaroglu, Atay Vural, Ayse Altintas, Hüseyin A. Şahin, Özgür Ömür, Tuğçe Gül, Gül Demet Kaya Özçora, Müge Kovancılar Koç, Vildan Yayla, Aksel Siva, Semra Hiz, Meral Topçu, Piraye Oflazer, Başar Bilgiç, M. Osman Çorbalı, Semiha Kurt, Elçin Bora, Nesli E. Şen, Kadriye Agan, A. Nazli Basak, Halil Güllüoğlu, Ceren Tunca, Sefer Kumandaş, Muhsin Elmas, Özgür Öztop Çakmak, Bulent Elibol, Aysun Soysal, Zeynep E. Kaya Gulec, Caroline Pirkevi Çetinkaya, Dürdane Aksoy, Aslı Gündoğdu Eken
المساهمون: Ege Üniversitesi, Elmas, Muhsin
مصطلحات موضوعية: 0301 basic medicine, Proband, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Turkey, Consanguinity, 03 medical and health sciences, symbols.namesake, Wholeexome sequencing, 0302 clinical medicine, medicine, Genetics, Humans, Spinocerebellar Ataxias, genetics, Exome sequencing, Spinocerebellar Degenerations, Sanger sequencing, biology, ataxia, medicine.disease, Optic Atrophy, 030104 developmental biology, Neurology, Muscle Spasticity, whole‐, Spinocerebellar ataxia, symbols, Frataxin, biology.protein, Neurology (clinical), medicine.symptom, Heterogeneity, heterogeneity, Trinucleotide repeat expansion, exome sequencing, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bd268a54a7c084aa9507fb520b75a7dTest
https://avesis.gazi.edu.tr/publication/details/dc537293-2ef2-4fdc-932d-c75876075839/oaiTest -
4
المؤلفون: Yesim Parman, Arman Çakar, Gulshan Yunisova, Ayse Candayan, A. Nazli Basak, Esra Battaloglu, Hacer Durmus
المصدر: Neurogenetics. 21(1)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Adolescent, Turkey, Mutation, Missense, Biology, Compound heterozygosity, 03 medical and health sciences, Cellular and Molecular Neuroscience, Young Adult, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Iron-Binding Proteins, Genetics, medicine, Missense mutation, Humans, Family, Gene, Genetics (clinical), Homozygote, Human genetics, nervous system diseases, Pedigree, 030104 developmental biology, Phenotype, Mutation (genetic algorithm), Frataxin, biology.protein, Female, medicine.symptom, Trinucleotide repeat expansion, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::030ae525e1f6e06ec13f92250de1d7e1Test
https://pubmed.ncbi.nlm.nih.gov/31673878Test