Discovery, validation and characterization of Erbb4 and Nrg1 haplotypes using data from three genome-wide association studies of schizophrenia
Agim, Zeynep Sena, Esendal, Melda, Briollais, Laurent, Uyan, Ozgun, Meschian, Mehran, Martinez, Luis Antonio Mendoza, Ding, Yongmei, Basak, A Nazli, Ozcelik, Hilmi
Published in PloS one (03.01.2013)
Published in PloS one (03.01.2013)
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Coexistence of autosomal recessive spastic ataxia of Charlevoix Saguenay and spondyloepiphyseal dysplasia in a Turkish patient
Kurt, Semiha, Kartal, Ece, Aksoy, Durdane, Cevik, Betul, Eken, Asli Gundogdu, Sahbaz, Irmak, Nazli Basak, A
Published in Journal of the neurological sciences (15.10.2015)
Published in Journal of the neurological sciences (15.10.2015)
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The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias
Traschütz, Andreas, Reich, Selina, Adarmes, Astrid D, Anheim, Mathieu, Ashrafi, Mahmoud Reza, Baets, Jonathan, Basak, A Nazli, Bertini, Enrico, Brais, Bernard, Gagnon, Cynthia, Gburek-Augustat, Janina, Hanagasi, Hasmet A, Heinzmann, Anna, Horvath, Rita, de Jonghe, Peter, Kamm, Christoph, Klivenyi, Peter, Klopstock, Thomas, Minnerop, Martina, Münchau, Alexander, Renaud, Mathilde, Roxburgh, Richard H, Santorelli, Filippo M, Schirinzi, Tommaso, Sival, Deborah A, Timmann, Dagmar, Vielhaber, Stefan, Wallner, Michael, van de Warrenburg, Bart P, Zanni, Ginevra, Zuchner, Stephan, Klockgether, Thomas, Schüle, Rebecca, Schöls, Ludger, Synofzik, Matthis
Published in Frontiers in neurology (25.06.2021)
Published in Frontiers in neurology (25.06.2021)
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Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred
Gulsuner, Suleyman, Tekinay, Ayse Begum, Doerschner, Katja, Boyaci, Huseyin, Bilguvar, Kaya, Unal, Hilal, Ors, Aslihan, Onat, O Emre, Atalar, Ergin, Basak, A Nazli, Topaloglu, Haluk, Kansu, Tulay, Tan, Meliha, Tan, Uner, Gunel, Murat, Ozcelik, Tayfun
Published in Genome research (01.12.2011)
Published in Genome research (01.12.2011)
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Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease
Traschütz, Andreas, Cortese, Andrea, Reich, Selina, Dominik, Natalia, Faber, Jennifer, Jacobi, Heike, Hartmann, Annette M, Rujescu, Dan, Montaut, Solveig, Echaniz-Laguna, Andoni, Erer, Sevda, Schütz, Valerie Cornelia, Tarnutzer, Alexander A, Sturm, Marc, Haack, Tobias B, Vaucamps-Diedhiou, Nadège, Puccio, Helene, Schöls, Ludger, Klockgether, Thomas, van de Warrenburg, Bart P, Paucar, Martin, Timmann, Dagmar, Hilgers, Ralf-Dieter, Gazulla, Jose, Strupp, Michael, Moris, German, Filla, Alessandro, Houlden, Henry, Anheim, Mathieu, Infante, Jon, Basak, A Nazli, Synofzik, Matthis
Published in Neurology (02.03.2021)
Published in Neurology (02.03.2021)
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Characterization of the c9orf72 GC-rich low complexity sequence in two cohorts of Italian and Turkish ALS cases
Corrado, Lucia, Tiloca, Cinzia, Locci, Clarissa, Bagarotti, Alessandra, Hamzeiy, Hamid, Colombrita, Claudia, De marchi, Fabiola, Barizzone, Nadia, Cotella, Diego, Ticozzi, Nicola, Mazzini, Letizia, Nazli Basak, AYSE, Ratti, Antonia, Silani, Vincenzo, D'alfonso, Sandra
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (03.07.2018)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (03.07.2018)
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Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion
Onat, Onur Emre, Gulsuner, Suleyman, Bilguvar, Kaya, Nazli Basak, Ayse, Topaloglu, Haluk, Tan, Meliha, Tan, Uner, Gunel, Murat, Ozcelik, Tayfun
Published in European journal of human genetics : EJHG (01.03.2013)
Published in European journal of human genetics : EJHG (01.03.2013)
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NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
Kenna, Kevin P, van Doormaal, Perry T C, Dekker, Annelot M, Ticozzi, Nicola, Kenna, Brendan J, Diekstra, Frank P, van Rheenen, Wouter, van Eijk, Kristel R, Jones, Ashley R, Keagle, Pamela, Shatunov, Aleksey, Sproviero, William, Smith, Bradley N, van Es, Michael A, Topp, Simon D, Kenna, Aoife, Miller, Jack W, Fallini, Claudia, Tiloca, Cinzia, McLaughlin, Russell L, Vance, Caroline, Troakes, Claire, Colombrita, Claudia, Mora, Gabriele, Calvo, Andrea, Verde, Federico, Al-Sarraj, Safa, King, Andrew, Calini, Daniela, de Belleroche, Jacqueline, Baas, Frank, van der Kooi, Anneke J, de Visser, Marianne, Ten Asbroek, Anneloor L M A, Sapp, Peter C, McKenna-Yasek, Diane, Polak, Meraida, Asress, Seneshaw, Muñoz-Blanco, José Luis, Strom, Tim M, Meitinger, Thomas, Morrison, Karen E, Lauria, Giuseppe, Williams, Kelly L, Leigh, P Nigel, Nicholson, Garth A, Blair, Ian P, Leblond, Claire S, Dion, Patrick A, Rouleau, Guy A, Pall, Hardev, Shaw, Pamela J, Turner, Martin R, Talbot, Kevin, Taroni, Franco, Boylan, Kevin B, Van Blitterswijk, Marka, Rademakers, Rosa, Esteban-Pérez, Jesús, García-Redondo, Alberto, Van Damme, Phillip, Robberecht, Wim, Chio, Adriano, Gellera, Cinzia, Drepper, Carsten, Sendtner, Michael, Ratti, Antonia, Glass, Jonathan D, Mora, Jesús S, Basak, Nazli A, Hardiman, Orla, Ludolph, Albert C, Andersen, Peter M, Weishaupt, Jochen H, Brown, Jr, Robert H, Al-Chalabi, Ammar, Silani, Vincenzo, Shaw, Christopher E, van den Berg, Leonard H, Veldink, Jan H, Landers, John E
Published in Nature genetics (01.09.2016)
Published in Nature genetics (01.09.2016)
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Reconsidering the causality of TIA1 mutations in ALS
van der Spek, Rick A., van Rheenen, Wouter, Pulit, Sara L., Kenna, Kevin P., Ticozzi, Nicola, Kooyman, Maarten, Mclaughlin, Russell L., Moisse, Matthieu, van Eijk, Kristel R., van Vugt, Joke J. F. A., Iacoangeli, Alfredo, Andersen, Peter, Nazli Basak, A., Blair, Ian, de Carvalho, Mamede, Chio, Adriano, Corcia, Philippe, Couratier, Phillipe, Drory, Vivian E., Glass, Jonathan D., Hardiman, Orla, Mora, Jesús S., Morrison, Karen E., Mitne-Neto, Miguel, Robberecht, Wim, Shaw, Pamela J., Panadés, Monica P., van Damme, Philip, Silani, Vincenzo, Gotkine, Marc, Weber, Markus, van Es, Michael A., Landers, John E., Al-Chalabi, Ammar, van den Berg, Leonard H., Veldink, Jan H.
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (02.01.2018)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (02.01.2018)
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Clinical and molecular characterization and response to acitretin in three families with Sjögren‐Larsson syndrome
Vural, Seçil, Vural, Atay, Akçimen, Fulya, Bağci, Işın S., Tunca, Ceren, Gündoğdu Eken, Asli, Ruzicka, Thomas, Başak, A. Nazli
Published in International journal of dermatology (01.07.2018)
Published in International journal of dermatology (01.07.2018)
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Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS
Hop, Paul J, Zwamborn, Ramona A J, Hannon, Eilis, Shireby, Gemma L, Nabais, Marta F, Walker, Emma M, van Rheenen, Wouter, van Vugt, Joke J F A, Dekker, Annelot M, Westeneng, Henk-Jan, Tazelaar, Gijs H P, van Eijk, Kristel R, Moisse, Matthieu, Baird, Denis, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Ticozzi, Nicola, Ratti, Antonia, Cooper-Knock, Jonathan, Morrison, Karen E, Shaw, Pamela J, Basak, A Nazli, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Canosa, Antonio, Brunetti, Maura, Grassano, Maurizio, Gotkine, Marc, Lerner, Yossef, Zabari, Michal, Vourc'h, Patrick, Corcia, Philippe, Couratier, Philippe, Mora Pardina, Jesus S, Salas, Teresa, Dion, Patrick, Ross, Jay P, Henderson, Robert D, Mathers, Susan, McCombe, Pamela A, Needham, Merrilee, Nicholson, Garth, Rowe, Dominic B, Pamphlett, Roger, Mather, Karen A, Sachdev, Perminder S, Furlong, Sarah, Garton, Fleur C, Henders, Anjali K, Lin, Tian, Ngo, Shyuan T, Steyn, Frederik J, Wallace, Leanne, Williams, Kelly L, Neto, Miguel Mitne, Cauchi, Ruben J, Blair, Ian P, Kiernan, Matthew C, Drory, Vivian, Povedano, Monica, de Carvalho, Mamede, Pinto, Susana, Weber, Markus, Rouleau, Guy A, Silani, Vincenzo, Landers, John E, Shaw, Christopher E, Andersen, Peter M, McRae, Allan F, van Es, Michael A, Pasterkamp, R Jeroen, Wray, Naomi R, McLaughlin, Russell L, Hardiman, Orla, Kenna, Kevin P, Tsai, Ellen, Runz, Heiko, Al-Chalabi, Ammar, van den Berg, Leonard H, Van Damme, Philip, Mill, Jonathan, Veldink, Jan H
Published in Science translational medicine (23.02.2022)
Published in Science translational medicine (23.02.2022)
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The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration
Opie-Martin, Sarah, Iacoangeli, Alfredo, Topp, Simon D, Abel, Olubunmi, Mayl, Keith, Mehta, Puja R, Shatunov, Aleksey, Fogh, Isabella, Bowles, Harry, Limbachiya, Naomi, Spargo, Thomas P, Al-Khleifat, Ahmad, Williams, Kelly L, Jockel-Balsarotti, Jennifer, Bali, Taha, Self, Wade, Henden, Lyndal, Nicholson, Garth A, Ticozzi, Nicola, McKenna-Yasek, Diane, Tang, Lu, Shaw, Pamela J, Chio, Adriano, Ludolph, Albert, Weishaupt, Jochen H, Landers, John E, Glass, Jonathan D, Mora, Jesus S, Robberecht, Wim, Damme, Philip Van, McLaughlin, Russell, Hardiman, Orla, van den Berg, Leonard, Veldink, Jan H, Corcia, Phillippe, Stevic, Zorica, Siddique, Nailah, Silani, Vincenzo, Blair, Ian P, Fan, Dong-Sheng, Esselin, Florence, de la Cruz, Elisa, Camu, William, Basak, Nazli A, Siddique, Teepu, Miller, Timothy, Brown, Robert H, Al-Chalabi, Ammar, Shaw, Christopher E
Published in Nature communications (12.11.2022)
Published in Nature communications (12.11.2022)
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Two Families with SOD1 (L144F) and C9orf72 Gene Mutations and an Overview of Amyotrophic Lateral Sclerosis
Bülbül, Nazlı Gamze, Seçil, Yaprak, Başak, Nazlı, Beckmann, Yeşim, Türe, Hatice Sabiha, Tunca, Ceren, Özoğuz, Aslıhan
Published in Türk nöroloji dergisi (01.01.2018)
Published in Türk nöroloji dergisi (01.01.2018)
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12q24 locus association with type 1 diabetes: SH2B3 or ATXN2 ?
Auburger, Georg, Gispert, Suzana, Lahut, Suna, Omür, Ozgür, Damrath, Ewa, Heck, Melanie, Başak, Nazlı
Published in World journal of diabetes (15.06.2014)
Published in World journal of diabetes (15.06.2014)
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Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans
Lesage, Suzanne, Patin, Etienne, Condroyer, Christel, Leutenegger, Anne-Louise, Lohmann, Ebba, Giladi, Nir, Bar-Shira, Anat, Belarbi, Soraya, Hecham, Nassima, Pollak, Pierre, Ouvrard-Hernandez, Anne-Marie, Bardien, Soraya, Carr, Jonathan, Benhassine, Traki, Tomiyama, Hiroyuki, Pirkevi, Caroline, Hamadouche, Tarik, Cazeneuve, Cécile, Basak, A. Nazli, Hattori, Nobutaka, Dürr, Alexandra, Tazir, Meriem, Orr-Urtreger, Avi, Quintana-Murci, Lluis, Brice, Alexis
Published in Human molecular genetics (15.05.2010)
Published in Human molecular genetics (15.05.2010)
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Evaluation of the Hematological and Serum Biochemistry Parameters in the Pre-Symptomatic and Symptomatic Stages of ALS Disease to Support Early Diagnosis and Prognosis
Aydemir, Duygu, Surucu, Selcuk, Basak, Ayse Nazli, Ulusu, Nuriye Nuray
Published in Cells (Basel, Switzerland) (01.11.2022)
Published in Cells (Basel, Switzerland) (01.11.2022)
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Brait–Fahn–Schwarz disease: Parkinson’s disease and amyotrophic lateral sclerosis complex
Erol, Asiye Mukaddes, Kilic, Ahmet Kasim, Celik, Aykut, Celik, Canan, Basak, A. Nazli
Published in Acta neurologica Belgica (01.09.2016)
Published in Acta neurologica Belgica (01.09.2016)
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Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration
Opie-Martin, Sarah, Iacoangeli, Alfredo, Topp, Simon D., Abel, Olubunmi, Mayl, Keith, Mehta, Puja R., Shatunov, Aleksey, Fogh, Isabella, Bowles, Harry, Limbachiya, Naomi, Spargo, Thomas P., Al-Khleifat, Ahmad, Williams, Kelly L., Jockel-Balsarotti, Jennifer, Bali, Taha, Self, Wade, Henden, Lyndal, Nicholson, Garth A., Ticozzi, Nicola, McKenna-Yasek, Diane, Tang, Lu, Shaw, Pamela J., Chio, Adriano, Ludolph, Albert, Weishaupt, Jochen H., Landers, John E., Glass, Jonathan D., Mora, Jesus S., Robberecht, Wim, Damme, Philip Van, McLaughlin, Russell, Hardiman, Orla, van den Berg, Leonard, Veldink, Jan H., Corcia, Phillippe, Stevic, Zorica, Siddique, Nailah, Silani, Vincenzo, Blair, Ian P., Fan, Dong-sheng, Esselin, Florence, de la Cruz, Elisa, Camu, William, Basak, Nazli A., Siddique, Teepu, Miller, Timothy, Brown, Robert H., Al-Chalabi, Ammar, Shaw, Christopher E.
Published in Nature communications (02.07.2024)
Published in Nature communications (02.07.2024)
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