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Genetic variability in sporadic amyotrophic lateral sclerosis
Van Daele, Sien Hilde, Moisse, Matthieu, van Vugt, Joke J F A, Zwamborn, Ramona A J, van der Spek, Rick, van Rheenen, Wouter, Van Eijk, Kristel, Kenna, Kevin, Corcia, Philippe, Vourc'h, Patrick, Couratier, Philippe, Hardiman, Orla, McLaughin, Russell, Gotkine, Marc, Drory, Vivian, Ticozzi, Nicola, Silani, Vincenzo, Ratti, Antonia, de Carvalho, Mamede, Mora Pardina, Jesús S, Povedano, Monica, Andersen, Peter M, Weber, Markus, Başak, Nazli A, Shaw, Chris, Shaw, Pamela J, Morrison, Karen E, Landers, John E, Glass, Jonathan D, van Es, Michael A, van den Berg, Leonard H, Al-Chalabi, Ammar, Veldink, Jan, Van Damme, Philip
Published in Brain (London, England : 1878) (01.09.2023)
Published in Brain (London, England : 1878) (01.09.2023)
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Journal Article
Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications
Iacoangeli, Alfredo, Dilliott, Allison A, Al Khleifat, Ahmad, Andersen, Peter M, Başak, Nazlı A, Cooper-Knock, Johnathan, Corcia, Philippe, Couratier, Philippe, deCarvalho, Mamede, Drory, Vivian E, Glass, Jonathan D, Gotkine, Marc, Lerner, Yosef M, Hardiman, Orla, Landers, John E, McLaughlin, Russell L, Pardina, Jesus S Mora, Morrison, Karen, Pinto, Susana, Povedano, Monica, Shaw, Christopher E, Shaw, Pamela J, Silani, Vincenzo, Ticozzi, Nicola, van Damme, Philip, van den Berg, Leonard H, Vourc'h, Patrick, Weber, Markus, Veldink, Jan Herman, Dobson, Richard, Rouleau, Guy A, Al-Chalabi, Ammar, Farhan, Sali M K
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2025)
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2025)
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Journal Article
Spastic Ataxia Composite ( SPAXCOM ): A Scale to Evaluate the Progression of Subjects with Spasticity and Ataxia
Di Folco, Cécile, Dubec‐Fleury, Charlotte, Traschütz, Andreas, Kessler, Christoph, Reich, Selina, Gagnon, Cynthia, Lessard, Isabelle, Rodrigue, Xavier, Cocozza, Sirio, Satolli, Sara, Santorelli, Filippo M., Durr, Alexandra, Heinzmann, Anna, van de Warrenburg, Bart P., Willemse, Ilse H.J., Başak, A. Nazli, Vural, Atay, Brais, Bernard, Klebe, Stephan, Horvath, Rita, Schüle, Rebecca, Synofzik, Matthis, Tezenas du Montcel, Sophie
Published in Movement disorders (20.08.2025)
Published in Movement disorders (20.08.2025)
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Journal Article
The Effect of SMN Gene Dosage on ALS Risk and Disease Severity
Moisse, Matthieu, Zwamborn, Ramona A. J., Vugt, Joke, Spek, Rick, Rheenen, Wouter, Kenna, Brendan, Van Eijk, Kristel, Kenna, Kevin, Corcia, Philippe, Couratier, Philippe, Vourc'h, Patrick, Hardiman, Orla, McLaughin, Russell, Gotkine, Marc, Drory, Vivian, Ticozzi, Nicola, Silani, Vincenzo, Carvalho, Mamede, Mora Pardina, Jesús S., Povedano, Monica, Andersen, Peter M., Weber, Markus, Başak, Nazli A., Chen, Xiao, Eberle, Michael A., Al‐Chalabi, Ammar, Shaw, Chris, Shaw, Pamela J., Morrison, Karen E., Landers, John E., Glass, Jonathan D., Robberecht, Wim, Es, Michael, Berg, Leonard, Veldink, Jan, Van Damme, Philip
Published in Annals of neurology (01.04.2021)
Published in Annals of neurology (01.04.2021)
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Journal Article
Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival
Adey, Brett N., Cooper-Knock, Johnathan, Al Khleifat, Ahmad, Fogh, Isabella, van Damme, Philip, Corcia, Philippe, Couratier, Philippe, Hardiman, Orla, McLaughlin, Russell, Gotkine, Marc, Drory, Vivian, Silani, Vincenzo, Ticozzi, Nicola, Veldink, Jan H., van den Berg, Leonard H., de Carvalho, Mamede, Pinto, Susana, Mora Pardina, Jesus S., Povedano Panades, Mónica, Andersen, Peter M., Weber, Markus, Başak, Nazli A., Shaw, Christopher E., Shaw, Pamela J., Morrison, Karen E., Landers, John E., Glass, Jonathan D., Vourc’h, Patrick, Dobson, Richard J. B., Breen, Gerome, Al-Chalabi, Ammar, Jones, Ashley R., Iacoangeli, Alfredo
Published in Frontiers in cellular neuroscience (02.03.2023)
Published in Frontiers in cellular neuroscience (02.03.2023)
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Journal Article
Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of ALS
Marriott, Heather, Spargo, Thomas P., Al Khleifat, Ahmad, Andersen, Peter M, Başak, Nazli A., Cooper‐Knock, Johnathan, Corcia, Philippe, Couratier, Philippe, Carvalho, Mamede, Drory, Vivian, Gotkine, Marc, Landers, John E., McLaughlin, Russell, Pardina, Jesús S. Mora, Morrison, Karen E., Pinto, Susana, Shaw, Christopher E., Shaw, Pamela J., Silani, Vincenzo, Ticozzi, Nicola, Damme, Philip, Berg, Leonard H., Vourc'h, Patrick, Weber, Markus, Veldink, Jan H., Al Khleifat, Ahmad, Al‐Chalabi, Ammar, Andersen, Peter M, Başak, Nazli A., Cooper‐Knock, Johnathan, Corcia, Philippe, Couratier, Philippe, Carvalho, Mamede, Drory, Vivian, Glass, Jonathan D., Gotkine, Marc, Hardiman, Orla, Iacoangeli, Alfredo, Landers, John E., McLaughlin, Russell, Pardina, Jesús S. Mora, Morrison, Karen E., Pinto, Susana, Povedano, Monica, Shaw, Christopher E., Shaw, Pamela J., Silani, Vincenzo, Ticozzi, Nicola, Damme, Philip, Berg, Leonard H., Vourc'h, Patrick, Weber, Markus, Veldink, Jan H., Dobson, Richard J., Schwab, Patrick, Al‐Chalabi, Ammar, Iacoangeli, Alfredo
Published in Annals of clinical and translational neurology (01.07.2024)
Published in Annals of clinical and translational neurology (01.07.2024)
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Journal Article
Identification of a presymptomatic and early disease signature for amyotrophic lateral sclerosis (ALS): protocol of the premodiALS study
Tzeplaeff, Laura, Galhoz, Ana, Meijs, Clara, Caldi Gomes, Lucas, Kovac, Andrej, Menzel, Amrei, Değirmenci, Hatice, Alaamel, Abir, Kaya, Hüseyin Can, Çelik, Ali Günalp, Dinçer, Sine, Korucuk, Meltem, Karaüzüm, Sibel Berker, Bayraktar, Elif, Çiftçi, Vildan, Bilge, Uğur, Koç, Filiz, Demleitner, Antonia F., Buchberger, Anne, von Heynitz, Ricarda, Gmeiner, Vincent, Knellwolf, Christina, Mouzouri, Mohammed, Wuu, Joanne, Başak, A. Nazli, Andersen, Peter Munch, Kohlmayer, Florian, Ashton, Nicholas J., Kuban, Wojciech, Lenz, Christof, Rogers, Mary-Louise, Zilka, Norbert, Corcia, Philippe, Lerner, Yossef, Weber, Markus, Turcanova Koprusakova, Monika, Uysal, Hilmi, Benatar, Michael, Menden, Michael P., Lingor, Paul
Published in Neurological research and practice (19.08.2025)
Published in Neurological research and practice (19.08.2025)
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Journal Article
From Genes to Proteins in Mendelian Parkinson's Disease: An Overview
Pirkevi, Caroline, Lesage, Suzanne, Brice, Alexis, Nazli Başak, A.
Published in Anatomical record (Hoboken, N.J. : 2007) (01.12.2009)
Published in Anatomical record (Hoboken, N.J. : 2007) (01.12.2009)
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Journal Article
The genetic basis of asymptomatic codon 8 frame-shift (HBB:c25_26delAA) β(0) -thalassaemia homozygotes
Jiang, Zhihua, Luo, Hong-Yuan, Huang, Shengwen, Farrell, John J, Davis, Lance, Théberge, Roger, Benson, Katherine A, Riolueang, Suchada, Viprakasit, Vip, Al-Allawi, Nasir A S, Ünal, Sule, Gümrük, Fatma, Akar, Nejat, Başak, A Nazli, Osorio, Leonor, Badens, Catherine, Pissard, Serge, Joly, Philippe, Campbell, Andrew D, Gallagher, Patrick G, Steinberg, Martin H, Forget, Bernard G, Chui, David H K
Published in British journal of haematology (01.03.2016)
Published in British journal of haematology (01.03.2016)
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Journal Article
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)
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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)
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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)
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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)
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Journal Article
The impact of age on genetic testing decisions in amyotrophic lateral sclerosis
Mehta, Puja R, Iacoangeli, Alfredo, Opie-Martin, Sarah, van Vugt, Joke J F A, Al Khleifat, Ahmad, Bredin, Andrea, Ossher, Lynn, Andersen, Peter M, Hardiman, Orla, Mehta, Arpan R, Fratta, Pietro, Talbot, Kevin, Başak, Nazli A, Corcia, Philippe, Couratier, Philippe, de Carvalho, Mamede, Drory, Vivian, Glass, Jonathan D, Gotkine, Marc, Landers, John E, McLaughlin, Russell, Pardina, Jesus S Mora, Morrison, Karen E, Povedano, Monica, Shaw, Christopher E, Shaw, Pamela J, Silani, Vincenzo, Ticozzi, Nicola, Van Damme, Philip, van den Berg, Leonard H, Veldink, Jan H, Vourc’h, Patrick, Weber, Markus, Al-Chalabi, Ammar
Published in Brain (London, England : 1878) (19.12.2022)
Published in Brain (London, England : 1878) (19.12.2022)
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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)
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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)
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Journal Article
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
Cortese, Andrea, Beecroft, Sarah J., Facchini, Stefano, Curro, Riccardo, Cabrera-Serrano, Macarena, Stevanovski, Igor, Chintalaphani, Sanjog R., Gamaarachchi, Hasindu, Weisburd, Ben, Folland, Chiara, Monahan, Gavin, Scriba, Carolin K., Dofash, Lein, Johari, Mridul, Grosz, Bianca R., Ellis, Melina, Fearnley, Liam G., Tankard, Rick, Read, Justin, Merve, Ashirwad, Dominik, Natalia, Vegezzi, Elisa, Schnekenberg, Ricardo P., Fernandez-Eulate, Gorka, Masingue, Marion, Giovannini, Diane, Delatycki, Martin B., Storey, Elsdon, Gardner, Mac, Amor, David J., Nicholson, Garth, Vucic, Steve, Henderson, Robert D., Robertson, Thomas, Dyke, Jason, Fabian, Vicki, Mastaglia, Frank, Davis, Mark R., Kennerson, Marina, Quinlivan, Ros, Hammans, Simon, Tucci, Arianna, Bahlo, Melanie, McLean, Catriona A., Laing, Nigel G., Stojkovic, Tanya, Houlden, Henry, Hanna, Michael G., Deveson, Ira W., Lockhart, Paul J., Lamont, Phillipa J., Fahey, Michael C., Bugiardini, Enrico, Ravenscroft, Gianina
Published in Nature communications (27.07.2024)
Published in Nature communications (27.07.2024)
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Journal Article