المؤلفون: Nazlı Gamze Bülbül, Yaprak Seçil, Nazlı Başak, Yeşim Beckmann, Hatice Sabiha Türe, Ceren Tunca, Aslıhan Özoğuz

المصدر: Türk Nöroloji Dergisi, Vol 24, Iss 2, Pp 159-164 (2018)

مصطلحات موضوعية: Familial amyotrophic lateral sclerosis, SOD1, C9orf72, Medicine, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.journalagent.com/z4/download_fulltext.asp?pdir=tjn&ppdf=2&plng=eng&un=TJN-26214Test; https://doaj.org/toc/1309-2545Test; https://doaj.org/toc/1301-062XTest

الوصول الحر: https://doaj.org/article/beff49f0e3be4d138637cacd4864079eTest

المؤلفون: A. Nazli Basak, Ceren Tunca, Pinar Gelener, Ersin Tan, Mahmut Cerkez Ergoren, Kerem Teralı, Sevda Diker

المصدر: Acta Neurologica Belgica. 122:955-960

مصطلحات موضوعية: Sanger sequencing, Proband, medicine.medical_specialty, Neurology, medicine.diagnostic_test, business.industry, Genetic counseling, SOD1, Neurological examination, General Medicine, Bioinformatics, medicine.disease, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Mutation (genetic algorithm), symbols, Medicine, 030212 general & internal medicine, Neurology (clinical), Amyotrophic lateral sclerosis, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ea0e2daf9a34bc31f81d67e6024c2998Test
https://doi.org/10.1007/s13760-020-01588-9Test

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

المؤلفون: Sevda, Diker, Pınar, Gelener, Kerem, Teralı, Mahmut Cerkez, Ergoren, Ceren, Tunca, A Nazlı, Başak, Ersin, Tan

المصدر: Acta neurologica Belgica. 122(4)

مصطلحات موضوعية: Threonine, Superoxide Dismutase-1, Superoxide Dismutase, Amyotrophic Lateral Sclerosis, Mutation, Humans, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::3f89f1df24c3783f13f9035d7986f0c4Test
https://pubmed.ncbi.nlm.nih.gov/33420941Test

المؤلفون: Mehmet Ali Akalin, Cemre Coşkun, Oznur Tastan, Tahsin Akgün, Ersin Tan, Aslihan Ozoguz Erimis, Mustafa Ertas, Halil Atilla Idrisoglu, Aysun Soysal, Erdi Şahin, Hamid Hamzeiy, Yesim Parman, Filiz Koç, Başar Bilgiç, Hasmet Hanagasi, Arman Çakar, Esra Gürsoy, Feza Deymeer, Ece Kartal, Fikret Aysal, Seyit Zor, Gulsen Babacan Yildiz, Nilda Turgut, Baris Isak, Gulden Olgun, Robin Palvadeau, Cemile Kocoglu, Fulya Akçimen, Tuncay Seker, Ersen Kavak, Elif Bayraktar, Utku Norman, A. Nazli Basak, A. Ercument Cicek, Ceren Tunca, Oguzhan Karakahya, Piraye Oflazer, Nesli-Ece Sen, Nurten Uzun Adatepe, Kayihan Uluc, Hacer Durmus, Cavit Boz, Dilcan Kotan

المساهمون: BABACAN YILDIZ, GÜLSEN, Tunca, Ceren, Seker, Tuncay, Akcimen, Fulya, Coskun, Cemre, Bayraktar, Elif, Palvadeau, Robin, Zor, Seyit, Kocoglu, Cemile, Kartal, Ece, Sen, Nesli Ece, Hamzeiy, Hamid, Erimis, Aslihan Ozoguz, Norman, Utku, Karakahya, Oguzhan, Olgun, Gulden, Akgun, Tahsin, Durmus, Hacer, Sahin, Erdi, Cakar, Arman, Gursoy, Esra Baar, Yildiz, Gulsen Babacan, Isak, Baris, Uluc, Kayihan, Hanagasi, Hasmet, Bilgic, Basar, Turgut, Nilda, Aysal, Fikret, Ertas, Mustafa, Boz, Cavit, Kotan, Dilcan, Idrisoglu, Halil, Soysal, Aysun, Adatepe, Nurten Uzun, Akalin, Mehmet Ali, Koc, Filiz, Tan, Ersin, Oflazer, Piraye, Deymeer, Feza, Tastan, Oznur, Cicek, A. Ercument, Kavak, Ersen, Parman, Yesim, Basak, A. Nazli, Karakahya, Oğuzhan, Olgun, Gülden, Çiçek, A. Ercüment, İÜC, Cerrahpaşa Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü

المصدر: Human Mutation

مصطلحات موضوعية: Turkey, Genome-wide association study, Gene mutation, AMYOTROPHIC-LATERAL-SCLEROSIS, ALS variant database, Cell-Cycle Regulators, Databases, Genetic, MOTOR-NEURON DISEASE, Coexpression Network, genetics, Genetics (clinical), Exome sequencing, Genetics, next generation sequencing, RISK, 0303 health sciences, education.field_of_study, Project MinE, 030305 genetics & heredity, SPINAL MUSCULAR-ATROPHY, Amyotrophic-Lateral-Sclerosis, clinical exome sequencing, Penetrance, 3. Good health, Phenotype, Spinal Muscular-Atrophy, Turkish peninsula, motor neuron disease, COEXPRESSION NETWORK, GENE-MUTATIONS, FORM, Risk, Genotype, Population, Locus (genetics), Biology, 03 medical and health sciences, Gene-Mutations, Sequence Variation, Analyses Identify, coexpression network analysis, SEQUENCE VARIATION, Humans, Expanding genotypes, shared phenotypes, molecular networks, and a public variant database-, HUMAN MUTATION, cilt.41, 2020 [Tunca C., Seker T., Akcimen F., Coskun C., Bayraktar E., Palvadeau R., Zor S., Kocoglu C., Kartal E., Sen N. E. , et al., -Revisiting the complex architecture of ALS in Turkey], education, Form, 030304 developmental biology, Genetic association, Internet, genome-wide association study, Whole Genome Sequencing, ANALYSES IDENTIFY, Amyotrophic Lateral Sclerosis, Motor-Neuron Disease, CELL-CYCLE REGULATORS, ALS

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54aef9b9d80c46be68614b3500ccd9dbTest
http://hdl.handle.net/20.500.12645/18569Test

المؤلفون: Ceren Tunca, Tuncay Şeker, Fulya Akçimen, Cemre Coşkun, Elif Bayraktar, Robin Palvadeau, Seyit Zor, Cemile Koçoğlu, Ece Kartal, Nesli Ece Şen, Hamid Hamzeiy, Aslıhan Özoğuz Erimiş, Utku Norman, Oğuzhan Karakahya, Gülden Olgun, Tahsin Akgün, Hacer Durmuş, Erdi Şahin, Arman Çakar, Esra Başar Gürsoy, Gülsen Babacan Yıldız, Barış İşak, Kayıhan Uluç, Haşmet Hanağası, Başar Bilgiç, Nilda Turgut, Fikret Aysal, Mustafa Ertaş, Cavit Boz, Dilcan Kotan, Halil İdrisoğlu, Aysun Soysal, Nurten Uzun Adatepe, Mehmet Ali Akalın, Filiz Koç, Ersin Tan, Piraye Oflazer, Feza Deymeer, Öznur Taştan, A. Ercüment Çiçek, Erşen Kavak, Yeşim Parman, A. Nazlı Başak

المصدر: Human Mutation. 41

مصطلحات موضوعية: Genetics, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5ac956505a7bd585508446fa8b50a1eeTest
https://doi.org/10.1002/humu.24087Test

المؤلفون: Belma Doğan Güngen, Fulya Akçimen, Dilcan Kotan, A. Nazli Basak, Ceren Tunca, Zeynep Özözen Ayas

المساهمون: İstinye Üniversitesi, Hastane, Dogan Gungen, Belma

مصطلحات موضوعية: Adult, Male, Proband, medicine.medical_specialty, Genotype, Turkey, Genetic analysis, 03 medical and health sciences, 0302 clinical medicine, Familial, C9orf72, SH3TC2, Internal medicine, Humans, Medicine, Genetic Predisposition to Disease, 030212 general & internal medicine, Age of Onset, Amyotrophic lateral sclerosis, Aged, Retrospective Studies, business.industry, Amyotrophic Lateral Sclerosis, Sakarya District, Proteins, Genetic Analysis, Methyltransferases, General Medicine, Middle Aged, medicine.disease, Sporadic, Pedigree, Phenotype, Mutation, Cohort, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Frontotemporal dementia

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::200efaaad84a1b99f902c31d39fbae00Test
https://hdl.handle.net/20.500.12619/71649Test

المؤلفون: Bas Middelkoop, Rick A.A. van der Spek, Matthieu Moisse, Kevin P. Kenna, Maarten Kooyman, Karen E. Morrison, Orla HardimanMD, Philip Van Damme, Michael A. van Es, Fulya Akçimen, John Landers, Jesus S. Mora, William J. Brands, Jan H. Veldink, Gijs H.P. Tazelaar, Kristel E. van Eijk, William Sproviero, Raymond D. Schellevis, Stephen E. Newhouse, Leonard H. van den Berg, Christopher Shaw, Mònica Povedano, Cemile Kocoglu, Jonathan D. Glass, A. Nazli Basak, Ceren Tunca, Sara L. Pulit, Wouter van Rheenen, Pamela J. Shaw, Ammar Al-Chalabi, Perry T.C. van Doormaal, Wim Robberecht, Annelot M. Dekker, Russell L. McLaughlin

المصدر: Annals of Neurology. 84:110-116

مصطلحات موضوعية: 0301 basic medicine, Nonsynonymous substitution, Genetics, Mutation, Mitochondrial disease, Biology, medicine.disease, medicine.disease_cause, Genome, Phenotype, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, medicine, Clinical significance, Neurology (clinical), Amyotrophic lateral sclerosis, medicine.symptom, Myopathy, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a4446ac012e6b9b334e6d2b818dad9beTest
https://doi.org/10.1002/ana.25273Test

المؤلفون: Yeşim Beckmann, Nazlı Gamze Bülbül, Yaprak Seçil, Aslihan Ozoguz, Ceren Tunca, Hatice Sabiha Türe, Nazli Basak

المصدر: Türk Nöroloji Dergisi, Vol 24, Iss 2, Pp 159-164 (2018)

مصطلحات موضوعية: business.industry, SOD1, C9orf72 Gene, Bioinformatics, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, C9orf72, Familial amyotrophic lateral sclerosis, Medicine, Neurology. Diseases of the nervous system, Neurology (clinical), Amyotrophic lateral sclerosis, RC346-429, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::729b55a827fb7b32bbdb3cb69de58781Test
https://doi.org/10.4274/tnd.26214Test

المؤلفون: Işın Sinem Bağcı, Atay Vural, Thomas Ruzicka, Fulya Akçimen, A. Nazli Basak, Aslı Gündoğdu Eken, Ceren Tunca, Seçil Vural

المصدر: International Journal of Dermatology. 57:843-848

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, DNA Mutational Analysis, Neuroimaging, Dermatology, Disease, Acitretin, 030207 dermatology & venereal diseases, 03 medical and health sciences, Keratolytic Agents, 0302 clinical medicine, Quality of life, Humans, Medicine, Exome, Spasticity, Child, Sjögren–Larsson syndrome, business.industry, Ichthyosis, Enamel hypoplasia, medicine.disease, Aldehyde Oxidoreductases, Magnetic Resonance Imaging, Musculoskeletal Abnormalities, Pedigree, Sjogren-Larsson Syndrome, 030104 developmental biology, Child, Preschool, Paraparesis, Spastic, Quality of Life, Female, medicine.symptom, business, Ichthyosis, Lamellar, medicine.drug, Congenital disorder

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b151225ffae402bd4440b6c27b2ceb4Test
https://doi.org/10.1111/ijd.14013Test