Vyzkoušejte nový nástroj s podporou AI
Summon Research Assistant
BETA
α‐Synuclein Pathology in PRKN‐Linked Parkinson's Disease: New Insights from a Blood‐Based Seed Amplification Assay
Kluge, Annika, Borsche, Max, Streubel‐Gallasch, Linn, Gül, Tuğçe, Schaake, Susen, Balck, Alexander, Prasuhn, Jannik, Campbell, Philip, Morris, Huw R., Schapira, Anthony H., Lohmann, Katja, Brüggemann, Norbert, Rakovic, Aleksandar, Seibler, Philip, Başak, A. Nazlı, Berg, Daniela, Klein, Christine
Published in Annals of neurology (01.06.2024)
Published in Annals of neurology (01.06.2024)
Get full text
Journal Article
The genetic structure of the Turkish population reveals high levels of variation and admixture
Kars, M. Ece, Başak, A. Nazlı, Onat, O. Emre, Bilguvar, Kaya, Choi, Jungmin, Itan, Yuval, Çağlar, Caner, Palvadeau, Robin, Casanova, Jean-Laurent, Cooper, David N., Stenson, Peter D., Yavuz, Alper, Buluş, Hakan, Günel, Murat, Friedman, Jeffrey M., Özçelik, Tayfun
Published in Proceedings of the National Academy of Sciences - PNAS (07.09.2021)
Published in Proceedings of the National Academy of Sciences - PNAS (07.09.2021)
Get full text
Journal Article
Sacsin levels in PBMCs: A diagnostic assay for SACS variants in peripheral blood cells – A PROSPAX study
Tunca, Ceren, İşlek Camadan, Eylül Ece, Smolina, Natalia, Palvadeau, Robin J., Öztop Çakmak, Özgür, Vural, Atay, Traschütz, Andreas, Santorelli, Filippo M., Brais, Bernard, Schüle, Rebecca, Synofzik, Matthis, Başak, A. Nazlı
Published in Movement disorders (01.12.2024)
Published in Movement disorders (01.12.2024)
Get full text
Journal Article
Human CRY1 variants associate with attention deficit/hyperactivity disorder
Onat, O. Emre, Kars, M. Ece, Gül, Şeref, Bilguvar, Kaya, Wu, Yiming, Özhan, Ayşe, Aydın, Cihan, Başak, A. Nazlı, Trusso, M. Allegra, Goracci, Arianna, Fallerini, Chiara, Renieri, Alessandra, Casanova, Jean-Laurent, Itan, Yuval, Atbaşoğlu, Cem E., Saka, Meram C., Kavaklı, İ. Halil, Özçelik, Tayfun
Published in The Journal of clinical investigation (01.07.2020)
Published in The Journal of clinical investigation (01.07.2020)
Get full text
Journal Article
Another de novo mutation in the SOD1 gene: the first Turkish patient with SOD1-His47Arg, a case report
Bayraktar, Elif, Çiftçi, Vildan, Uysal, Hilmi, Başak, A. Nazlı
Published in Frontiers in genetics (25.08.2023)
Published in Frontiers in genetics (25.08.2023)
Get full text
Journal Article
Non‐GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic—Reply to: “Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family”
Pellerin, David, Iruzubieta, Pablo, Tekgül, Şeyma, Danzi, Matt C., Ashton, Catherine, Dicaire, Marie‐Josée, Wandzel, Marion, Roth, Virginie, Lamont, Phillipa J., Bonnet, Céline, Renaud, Mathilde, Synofzik, Matthis, Zuchner, Stephan, Brais, Bernard, Başak, Nazlı A., Houlden, Henry
Published in Movement disorders (01.08.2023)
Published in Movement disorders (01.08.2023)
Get full text
Journal Article
Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis
Dohrn, Maike F, Beijer, Danique, Lone, Museer A, Bayraktar, Elif, Oflazer, Piraye, Orbach, Rotem, Donkervoort, Sandra, Foley, A Reghan, Rose, Aubrey, Lyons, Michael, Louie, Raymond J, Gable, Kenneth, Dunn, Teresa, Chen, Sitong, Danzi, Matt C, Synofzik, Matthis, Bönnemann, Carsten G, Nazlı Başak, A, Hornemann, Thorsten, Zuchner, Stephan
Published in Journal of neurology, neurosurgery and psychiatry (01.03.2024)
Published in Journal of neurology, neurosurgery and psychiatry (01.03.2024)
Get full text
Journal Article
Early‐Onset Parkinson's Disease: A Novel Deletion Comprising the DJ‐1 and TNFRSF9 Genes
Güler, Süleyman, Gül, Tuğçe, Güler, Şükran, Haerle, Maja C., Başak, A.Nazlı
Published in Movement disorders (01.12.2021)
Published in Movement disorders (01.12.2021)
Get full text
Journal Article
The distinct genetic pattern of ALS in Turkey and novel mutations
Özoğuz, Aslıhan, Uyan, Özgün, Birdal, Güneş, Iskender, Ceren, Kartal, Ece, Lahut, Suna, Ömür, Özgür, Agim, Zeynep Sena, Eken, Aslı Gündoğdu, Sen, Nesli Ece, Kavak, Pınar, Saygı, Ceren, Sapp, Peter C., Keagle, Pamela, Parman, Yeşim, Tan, Ersin, Koç, Filiz, Deymeer, Feza, Oflazer, Piraye, Hanağası, Haşmet, Gürvit, Hakan, Bilgiç, Başar, Durmuş, Hacer, Ertaş, Mustafa, Kotan, Dilcan, Akalın, Mehmet Ali, Güllüoğlu, Halil, Zarifoğlu, Mehmet, Aysal, Fikret, Döşoğlu, Nilgün, Bilguvar, Kaya, Günel, Murat, Keskin, Özlem, Akgün, Tahsin, Özçelik, Hilmi, Landers, John E., Brown, Robert H., Başak, A. Nazlı
Published in Neurobiology of aging (01.04.2015)
Published in Neurobiology of aging (01.04.2015)
Get full text
Journal Article
ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree
Tunca, Ceren, Akçimen, Fulya, Coşkun, Cemre, Gündoğdu-Eken, Aslı, Kocoglu, Cemile, Çevik, Betül, Bekircan-Kurt, Can Ebru, Tan, Ersin, Başak, A. Nazlı
Published in European journal of human genetics : EJHG (01.05.2018)
Published in European journal of human genetics : EJHG (01.05.2018)
Get full text
Journal Article
The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype
Candayan, Ayşe, Yunisova, Gulshan, Çakar, Arman, Durmuş, Hacer, Başak, A. Nazlı, Parman, Yeşim, Battaloğlu, Esra
Published in Neurogenetics (01.01.2020)
Published in Neurogenetics (01.01.2020)
Get full text
Journal Article
The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice
Vural, Atay, Şimşir, Gülşah, Tekgül, Şeyma, Koçoğlu, Cemile, Akçimen, Fulya, Kartal, Ece, Şen, Nesli E., Lahut, Suna, Ömür, Özgür, Saner, Nazan, Gül, Tuğçe, Bayraktar, Elif, Palvadeau, Robin, Tunca, Ceren, Pirkevi Çetinkaya, Caroline, Gündoğdu Eken, Aslı, Şahbaz, Irmak, Kovancılar Koç, Müge, Öztop Çakmak, Özgür, Hanağası, Haşmet, Bilgiç, Başar, Eraksoy, Mefkure, Gündüz, Ayşegül, Apaydın, Hülya, Kızıltan, Güneş, Özekmekçi, Sibel, Siva, Aksel, Altıntaş, Ayşe, Kaya Güleç, Zeynep E., Parman, Yeşim, Oflazer, Piraye, Deymeer, Feza, Durmuş, Hacer, Şahin, Erdi, Çakar, Arman, Tüfekçioğlu, Zeynep, Tektürk, Pınar, Çorbalı, M. Osman, Tireli, Hülya, Akdal, Gülden, Yiş, Uluç, Hız, Semra, Şengün, İhsan, Bora, Elçin, Serdaroğlu, Gül, Erer Özbek, Sevda, Ağan, Kadriye, İnce Günal, Dilek, Us, Önder, Kurt, Semiha G., Aksoy, Dürdane, Bora Tokçaer, Ayşe, Elmas, Muhsin, Gültekin, Murat, Kumandaş, Sefer, Acer, Hamit, Kaya Özçora, Gül D., Yayla, Vildan, Soysal, Aysun, Genç, Gençer, Güllüoğlu, Halil, Kotan, Dilcan, Özözen Ayas, Zeynep, Şahin, Hüseyin A., Tan, Ersin, Topçu, Meral, Topçuoğlu, Esen Saka, Akbostancı, Cenk, Koç, Filiz, Ertan, Sibel, Elibol, Bülent, Başak, A. Nazlı
Published in Movement disorders (01.07.2021)
Published in Movement disorders (01.07.2021)
Get full text
Journal Article
Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database
Tunca, Ceren, Şeker, Tuncay, Akçimen, Fulya, Coşkun, Cemre, Bayraktar, Elif, Palvadeau, Robin, Zor, Seyit, Koçoğlu, Cemile, Kartal, Ece, Şen, Nesli Ece, Hamzeiy, Hamid, Özoğuz Erimiş, Aslıhan, Norman, Utku, Karakahya, Oğuzhan, Olgun, Gülden, Akgün, Tahsin, Durmuş, Hacer, Şahin, Erdi, Çakar, Arman, Başar Gürsoy, Esra, Babacan Yıldız, Gülsen, İşak, Barış, Uluç, Kayıhan, Hanağası, Haşmet, Bilgiç, Başar, Turgut, Nilda, Aysal, Fikret, Ertaş, Mustafa, Boz, Cavit, Kotan, Dilcan, İdrisoğlu, Halil, Soysal, Aysun, Uzun Adatepe, Nurten, Akalın, Mehmet Ali, Koç, Filiz, Tan, Ersin, Oflazer, Piraye, Deymeer, Feza, Taştan, Öznur, Çiçek, A. Ercüment, Kavak, Erşen, Parman, Yeşim, Başak, A. Nazlı
Published in Human mutation (01.08.2020)
Published in Human mutation (01.08.2020)
Get full text
Journal Article
Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family
Palvadeau, R., Kaya-Güleç, Z. E., Şimşir, G., Vural, A., Öztop-Çakmak, Ö., Genç, G., Aygün, M. S., Falay, O., Başak, A. Nazlı, Ertan, S.
Published in Neurogenetics (01.01.2020)
Published in Neurogenetics (01.01.2020)
Get full text
Journal Article
Novel variants broaden the phenotypic spectrum of PLEKHG5‐associated neuropathies
Chen, Zhongbo, Maroofian, Reza, Başak, A. Nazlı, Shingavi, Leena, Karakaya, Mert, Efthymiou, Stephanie, Gustavsson, Emil K., Meier, Leyla, Polavarapu, Kiran, Vengalil, Seena, Preethish‐Kumar, Veeramani, Nandeesh, Bevinahalli N., Gökçe Güneş, Nalan, Akan, Onur, Candan, Fatma, Schrank, Bertold, Zuchner, Stephan, Murphy, David, Kapoor, Mahima, Ryten, Mina, Wirth, Brunhilde, Reilly, Mary M., Nalini, Atchayaram, Houlden, Henry, Sarraf, Payam
Published in European journal of neurology (01.04.2021)
Published in European journal of neurology (01.04.2021)
Get full text
Journal Article
A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification
Forouhideh, Yalda, Müller, Kathrin, Ruf, Wolfgang, Assi, Muhannad, Şeker, Tuncay, Tunca, Ceren, Knehr, Antje, Strom, Tim M, Gorges, Martin, Schradt, Falk, Meitinger, Thomas, Ludolph, Albert C, Pinkhardt, Elmar H, Başak, A Nazlı, Kassubek, Jan, Uttner, Ingo, Weishaupt, Jochen H
Published in Brain (London, England : 1878) (01.02.2019)
Published in Brain (London, England : 1878) (01.02.2019)
Get full text
Journal Article