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A. Nazlı Başak

koç university

27H-index
143Paper Count
2.8KCitation Count
Published Papers 47
Publication Date
Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant Expansions in a Large Turkish Neurodegeneration Disease Cohort
err2026-05-14
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errZakhiriddin Khojakulov; Robin J. Palvadeau; Müge Kovancılar-Koç; Irmak Atay; Irmak Şahbaz; Şeyma Tekgül; Ayça Şahin; Esmer Zeynep Duru Badakal; Tuğçe Gül-Demirkale; Vildan Çiftçi; Elif Bayraktar; Ceren Tunca; Natalia Smolina; Fulya Akçimen; Ayşe Nazlı Başak
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Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality
err2026-04-15
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errFrancesca Magrinelli; Christelle Tesson; Plamena R. Angelova; Jose A. Rodriguez; Annarita Scardamaglia; Benjamin O’Callaghan; Simon A. Lowe; Ainara Salazar-Villacorta; Brian Hon-Yin Chung; Matthew Jaconelli; Barbara Vona; Noemi Esteras; Angela Mammana; Junko Shimazu; Anna Ka-Yee Kwong; Thomas Courtin; Shahryar Alavi; Reza Maroofian; Raja Nirujogi; Mariasavina Severino; Edoardo Monfrini; Clarissa Rocca; Patrick A. Lewis; Stephanie Efthymiou; Rebecca Buchert; Linda Sofan; Pawel Lis; Chloé Pinon; Guido J. Breedveld; Martin Man-Chun Chui; David Murphy; Vanessa Pitz; Mary B. Makarious; Simone Baiardi; Marina Volin; Marlene Cassar; Bassem A. Hassan; Sana Iftikhar; Peter Bauer; Michele Tinazzi; Marina Svetel; Bedia Samanci; Haşmet A. Hanağası; Basar Bilgiç; Francesco Cavallieri; Mario Santangelo; José A. Obeso; Monica M. Kurtis; Guillaume Cogan; Güneş Kiziltan; Tuğçe Gül-Demirkale; Hülya Tireli; Gülbün A. Yüksel; Gül Yalçın-Cakmakli; Bülent Elibol; Nina Barišić; Earny Wei-Sen Ng; Sze-Shing Fan; Tova Hershkovitz; Karin Weiss; Javeria Raza Alvi; Tipu Sultan; Issam Azmi Alkhawaja; Tawfiq Froukh; Hadeel Abdollah E. Alrukban; Muhammad Nadeem Anjum; Anjum Saeed; Huma Arshad Cheema; Christine Fauth; Ulrich A. Schatz; Thomas Zöggeler; Michael Zech; Karen Stals; Vinod Varghese; Sonia Gandhi; Cornelis Blauwendraat; John A. Hardy; Alessio Di Fonzo; Vincenzo Bonifati; Tobias B. Haack; Aida M. Bertoli-Avella; Suzanne Lesage; Ayşe Nazlı Başak; Robert Steinfeld; Piero Parchi; James E. C. Jepson; Dario R. Alessi; Alexis Brice; Hermann Steller; Andrey Y. Abramov; Kailash P. Bhatia; Henry Houlden
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Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis
err2026-03-31
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errPaul J. Hop; Maarten Kooyman; Brendan J. Kenna; Ramona A. J. Zwamborn; Kristel R. van Eijk; Yan Wang; Charlotte H. van Dijk; Erwin Bekema; Wouter van Rheenen; Paul Beele; Joke J. F. A. van Vugt; Ahmad Al Khleifat; Alfredo Iacoangeli; Johnathan Cooper-Knock; Bradley N. Smith; Simon Topp; Anneke J. van der Kooi; Vera Fominykh; Vivian Drory; Yossef Lerner; Yehuda Shovman; Dominic B. Rowe; Kelly L. Williams; Russell L. McLaughlin; Jessica Hurt; Yunfeng Huang; Chia-Yen Chen; Ellen Tsai; Heiko Runz; Eleonora Aronica; Ewout J. N. Groen; Michael A. van Es; R. Jeroen Pasterkamp; Sali M. K. Farhan; Fleur C. Garton; Allan F. McRae; Pamela A. McCombe; Robert D. Henderson; Dongsheng Fan; Lenka Šlachtová; Helle Høyer; Agnes L. Nishimura; Ruben J. Cauchi; Lev Brylev; Boris Rogelj; Blaž Koritnik; Janez Zidar; Teresa Salas; Jesus S. Mora Pardina; Marc Gotkine; Monica Povedano; Philippe Corcia; Patrick Vourc’h; Philippe Couratier; Markus Weber; Matthew C. Kiernan; Roger Pamphlett; Ian P. Blair; Mamede de Carvalho; Nazli A. Başak; Caroline Ingre; Peter M. Andersen; Lorne Zinman; Ekaterina Rogaeva; Ian R. MacKenzie; Nicolas Dupre; Guy A. Rouleau; Bryan J. Traynor; Nicola Ticozzi; Adriano Chiò; Vincenzo Silani; Orla Hardiman; Hemali Phatnani; Matthew B. Harms; Clifton L. Dalgard; Jonathan D. Glass; John E. Landers; Philip Van Damme; Karen E. Morrison; Pamela J. Shaw; Chris E. Shaw; Ammar Al-Chalabi; Leonard H. van den Berg; Kevin P. Kenna; Jan H. Veldink
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TWO HOMOZYGOUS KIF1C VARIANTS IN A TURKISH FAMILY PRESENTING WITH CEREBELLAR DYSFUNCTION AND SPASTIC PARAPARESIS WITH MRI FINDINGS
err2025-11-21
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PREAI
errGullu Tarhan; Sahinde Fazilet Hiz; Busra Elif Inanir; Gulsah Simsir; Seyma Tekgul; Ayse Nazlı Basak; Sabahat Nacar Dogan
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Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker
err2025-09-01
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errGautam, Mukesh; Laith, Ali; Gunel, Aslihan; Yilmaz, Melda; Basak, Nazli; Idrisoglu, Halil; Ozdinler, P. Hande
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Spastic Ataxia Composite (SPAXCOM): A Scale to Evaluate the Progression of Subjects with Spasticity and Ataxia
err2025-08-20
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errCécile Di Folco MsC; Charlotte Dubec-Fleury MsC; Andreas Traschütz MD, PhD; Christoph Kessler MD; Selina Reich MsC; Cynthia Gagnon PhD; Isabelle Lessard MsC; Xavier Rodrigue MD; Sirio Cocozza MD, PhD; Sara Satolli MD; Filippo M. Santorelli MD; Alexandra Durr MD, PhD; Anna Heinzmann MD; Bart P. van de Warrenburg MD; Ilse H.J. Willemse MsC; A. Nazli Başak MD; Atay Vural MD; Bernard Brais MD; Stephan Klebe MD; Rita Horvath MD, PhD; PROSPAX Consortium; Rebecca Schüle MD; Matthis Synofzik MD, PhD; Sophie Tezenas du Montcel MD, PhD
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Identification of a presymptomatic and early disease signature for amyotrophic lateral sclerosis (ALS): protocol of the premodiALS study
err2025-08-19
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errLaura Tzeplaeff; Ana Galhoz; Clara Meijs; Lucas Caldi Gomes; Andrej Kovac; Amrei Menzel; Hatice Değirmenci; Abir Alaamel; Hüseyin Can Kaya; Ali Günalp Çelik; Sine Dinçer; Meltem Korucuk; Sibel Berker Karaüzüm; Elif Bayraktar; Vildan Çiftçi; Uğur Bilge; Filiz Koç; Antonia F. Demleitner; Anne Buchberger; Ricarda von Heynitz; Vincent Gmeiner; Christina Knellwolf; Mohammed Mouzouri; Joanne Wuu; A. Nazli Başak; Peter Munch Andersen; Florian Kohlmayer; Nicholas J. Ashton; Wojciech Kuban; Christof Lenz; Mary-Louise Rogers; Norbert Zilka; Philippe Corcia; Yossef Lerner; Markus Weber; Monika Turcanova Koprusakova; Hilmi Uysal; Michael Benatar; Michael P. Menden; Paul Lingor
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Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD
errBRAIN
IF11.7
err2025-08-01
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errCortese, Andrea; Dohrn, Maike F.; Curro, Riccardo; Negri, Sara; Lassuthova, Petra; Pisciotta, Chiara; Tozza, Stefano; Al-Ajmi, Abdullah; Feng, Changyong; Tomaselli, Pedro J.; Fernandez-Eulate, Gorka; Haddad, Saif; Laura, Matilde; Rossor, Alexander M.; Vegezzi, Elisa; Facchini, Stefano; Sleigh, James N.; Rebelo, Adriana; Beijer, Danique; Raposo, Jacquelyn; Saporta, Mario; Lauerova, Barbora; Pernice, Helena F.; Achenbach, Pascal; Schone, Ulrike; Alon, Tayir; Deschauer, Marcus; Cordts, Isabell; Obermaier, Carolin D.; Winter, Natalie; Creigh, Peter D.; Sowden, Janet E.; Rehbein, Tyler; Magri, Stefania; Bertini, Alessandro; Saveri, Paola; Ripellino, Paolo; Huang, Jingyu; Nadaj-Pakleza, Aleksandra; Ross, Alison; Holt, James K. L.; Brennan, Kathryn M.; Sukenik-Halevy, Rivka; Bizaoui, Varoona; Parman, Yesim; Battaloglu, Esra; Cakar, Arman; Alrohaif, Hadil; Hammans, Simon; Kumar, Kishore R.; Kennerson, Marina L.; Kayserili, Hulya; Amado, Defne A.; Hahn, Katrin; Valentino, Paola; Cavalcanti, Francesca; Gaetano, Carlo; Taroni, Franco; Braathen, Geir J.; Houlden, Henry; Stojkovic, Tanya; Peric, Stojan; Bolino, Alessandra; Previtali, Stefano C.; Lee, Yi-Chung; Basak, Ayse N.; Hamed, Sherifa A.; Rojas-Garcia, Ricardo; Claeys, Kristl G.; Marques, Wilson; Sevilla, Teresa; Schlotter-Weigel, Beate; Manganelli, Fiore; Zhang, Ruxu; Herrmann, David N.; Scherer, Steven S.; Seeman, Pavel; Pareyson, Davide; Reilly, Mary M.; Shy, Michael E.; Zuchner, Stephan
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FBXO7 Pathogenic Variants in Early-Onset Parkinsonism: Insights from a Neuroimaging Perspective and Review of the Literature
err2025-07-31
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PREAI
errErdi Şahin MD; Bedia Samanci MD; Gül Yalçın Çakmaklı MD; Ebba Lohmann MD; Gamze Güven PhD; Ebru Erzurumluoğlu Gökalp PhD; Ayşegül Gündüz MD; Ayşe Nazlı Başak PhD; Sibel Ertan MD; Bülent Elibol MD; Başar Bilgiç MD; Haşmet Hanağası MD
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Integrated Modeling of Digital-Motor and Clinician-Reported Outcomes Using Item Response Theory: Towards Powerful Trials for Rare Neurological Diseases
err2025-07-21
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errAlzahra Hamdan; Andreas Traschütz; Lukas Beichert; Xiaomei Chen; Cynthia Gagnon; Bart P. van de Warrenburg; Filippo M. Santorelli; Nazlı Başak; Giulia Coarelli; Rita Horvath; Stephan Klebe; PROSPAX consortium; EVIDENCE-RND consortium; Rebecca Schüle; Andrew C. Hooker; Matthis Synofzik; Mats O. Karlsson
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Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications
err2025-02-13
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errIacoangeli, Alfredo; Dilliott, Allison A.; Al Khleifat, Ahmad; Andersen, Peter M.; Basak, Nazli 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.
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Experience with salbutamol treatment in a family with congenital myasthenia due to CHRNE mutation
err2025-02-01
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PREAI
errTezen, Didem; Kizilkilic, Esra Kochan; Erener, Nursena; Khojakulov, Zakhiriddin; Demirbilek, Veysi; Basak, Ayse Nazli
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The First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non-kinesigenic Dyskinesia Caused by a Truncating FGF14 Variant in a Turkish Patient
err2024-12-20
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errTurkdogan, Dilsad; Smolina, Natalia; Tekgul, Seyma; Guel, Tugce; Yesilyurt, Ahmet; Houlden, Henry; Zuchner, Stephan; Brais, Bernard; Pellerin, David; Basak, Ayse Nazli
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Sacsin levels in PBMCs: A diagnostic assay for SACS variants in peripheral blood cells - A PROSPAX study
err2024-09-24
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PREAI
errTunca, Ceren; Camadan, Eylul Ece Islek; Smolina, Natalia; Palvadeau, Robin J.; Cakmak, Ozgur Oztop; Vural, Atay; Traschuetz, Andreas; Santorelli, Filippo M.; Brais, Bernard; Schuele, Rebecca; Synofzik, Matthis; Basak, A. Nazli
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MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study
err2024-06-07
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PREAI
errScaravilli, Alessandra; Negroni, Davide; Senatore, Claudio; Ugga, Lorenzo; Cosottini, Mirco; Ricca, Ivana; Bender, Benjamin; Traschuetz, Andreas; Basak, Ayse Nazli; Vural, Atay; van de Warrenburg, Bart P.; Durr, Alexandra; La Piana, Roberta; Timmann, Dagmar; Schuele, Rebecca; Synofzik, Matthis; Santorelli, Filippo Maria; Cocozza, Sirio
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Digital Gait Outcomes for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Discriminative, Convergent, and Ecological Validity in a Multicenter Study (PROSPAX)
err2024-06-07
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errBeichert, Lukas; Ilg, Winfried; Kessler, Christoph; Traschuetz, Andreas; Reich, Selina; Santorelli, Filippo M.; Basak, Ayse Nazli; Gagnon, Cynthia; Schuele, Rebecca; Synofzik, Matthis
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α-Synuclein Pathology in PRKN-Linked Parkinson's Disease: New Insights from a Blood-Based Seed Amplification Assay
err2024-03-28
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errKluge, Annika; Borsche, Max; Streubel-Gallasch, Linn; Guel, Tugce; Schaake, Susen; Balck, Alexander; Prasuhn, Jannik; Campbell, Philip; Morris, Huw R.; Schapira, Anthony H.; Lohmann, Katja; Brueggemann, Norbert; Rakovic, Aleksandar; Seibler, Philip; Basak, A. Nazli; Berg, Daniela; Klein, Christine
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Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis
err2023-11-24
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errDohrn, 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; Boennemann, Carsten G.; Basak, A. Nazli; Hornemann, Thorsten; Zuchner, Stephan
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