A. Nazlı Başak - Publications, H-index & Citations

A. Nazlı Başak

Koc University

27H指数

144论文数

2.8K被引数

收录论文 48

发表时间

Unified long-read panel for Parkinson’s and repeat expansion disorders 帕金森病及重复序列扩展障碍的统一长读长分析面板

npj Parkinsons Disease

IF8.2

2026-09-24

OAAI

André Fienemann; Julia C. Prietzsche; Joshua Laβ; Christoph Much; Susen Schaake; Theresa Lüth; Carolin Gabbert; Alexander Zimprich; Elisabeth Stögmann; Theresa König; Christos Ganos; Tuğçe Gül-Demirkale; A. Nazlı Başak; Roland Dominic G. Jamora; Raymond L. Rosales; Gerard Saranza; Cid Czarina E. Diesta; Meret Möller; Max Borsche; Teresa Kleinz; Alexander Balck; Norbert Brüggemann; Philip Seibler; Christine Klein; Joanne Trinh

Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant Expansions in a Large Turkish Neurodegeneration Disease Cohort 计算短串联重复序列分型揭示了一个大型土耳其神经退行性疾病队列中具有临床相关性的扩展

International Journal of Molecular Sciences

IF4.9

2026-05-14

OAAI

Zakhiriddin 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

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality 蛋白酶体调节因子PSMF1的变异导致从帕金森病到围产期死亡表型谱

Nature Communications

IF15.7

2026-04-15

OAAI

Francesca 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

Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis 大规模外显子分析揭示了肌萎缩侧索硬化症中新的罕见变异贡献

Nature Genetics

IF29

2026-03-31

OAAI

Paul 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

TWO HOMOZYGOUS KIF1C VARIANTS IN A TURKISH FAMILY PRESENTING WITH CEREBELLAR DYSFUNCTION AND SPASTIC PARAPARESIS WITH MRI FINDINGS 一个出现小脑功能障碍和痉挛性截瘫且MRI检查有阳性发现的土耳其家庭中，存在两个纯合KIF1C基因变异。

Parkinsonism & Related Disorders

IF3.4

2025-11-21

PREAI

Gullu Tarhan; Sahinde Fazilet Hiz; Busra Elif Inanir; Gulsah Simsir; Seyma Tekgul; Ayse Nazlı Basak; Sabahat Nacar Dogan

Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker SOD1D90A突变的外泌体蛋白质组学提示早期疾病机制，并提示FN1可作为生物标志物

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2025-09-01

OAAI

Gautam, Mukesh; Laith, Ali; Gunel, Aslihan; Yilmaz, Melda; Basak, Nazli; Idrisoglu, Halil; Ozdinler, P. Hande

Spastic Ataxia Composite (SPAXCOM): A Scale to Evaluate the Progression of Subjects with Spasticity and Ataxia 痉挛性共济失调复合量表 (SPAXCOM)：用于评估具有痉挛和共济失调特征的受试者病情进展的量表

Movement Disorders

IF7.6

2025-08-20

OAAI

Cécile 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

Identification of a presymptomatic and early disease signature for amyotrophic lateral sclerosis (ALS): protocol of the premodiALS study 确定肌萎缩侧索硬化症（ALS）的亚临床及早期疾病特征：premodiALS研究的方案

Neurological Research and Practice

IF3.2

2025-08-19

OAAI

Laura 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

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD 由于SORD基因突变导致的Charcot-Marie-Tooth疾病的基因型与表型谱

BRAIN

IF11.7

2025-08-01

OAAI

Cortese, 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

FBXO7 Pathogenic Variants in Early-Onset Parkinsonism: Insights from a Neuroimaging Perspective and Review of the Literature FBXO7致病性变异在早发性帕金森综合征中的研究：神经影像学视角的见解与文献综述

Movement Disorders Clinical Practice

IF2.7

2025-07-31

PREAI

Erdi 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

Integrated Modeling of Digital-Motor and Clinician-Reported Outcomes Using Item Response Theory: Towards Powerful Trials for Rare Neurological Diseases 基于项目反应理论的数字-运动与临床报告结局的整合建模：面向罕见神经疾病的强力试验

cpt pharmacometrics systems pharmacology

IF0

2025-07-21

OAAI

Alzahra 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

Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications 肌萎缩性侧索硬化症的寡基因结构具有基因检测，咨询和治疗意义

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

IF7.5

2025-02-13

OAAI

Iacoangeli, 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.

Experience with salbutamol treatment in a family with congenital myasthenia due to CHRNE mutation

CLINICAL NEUROPHYSIOLOGY

IF3.6

2025-02-01

PREAI

Tezen, Didem; Kizilkilic, Esra Kochan; Erener, Nursena; Khojakulov, Zakhiriddin; Demirbilek, Veysi; Basak, Ayse Nazli

The First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non-kinesigenic Dyskinesia Caused by a Truncating FGF14 Variant in a Turkish Patient 土耳其患者中第一例由截断的FGF14变体引起的常染色体隐性小脑共济失调，伴有明显的阵发性非运动诱发性运动障碍

MOVEMENT DISORDERS

IF7.6

2024-12-20

OAAI

Turkdogan, Dilsad; Smolina, Natalia; Tekgul, Seyma; Guel, Tugce; Yesilyurt, Ahmet; Houlden, Henry; Zuchner, Stephan; Brais, Bernard; Pellerin, David; Basak, Ayse Nazli

Sacsin levels in PBMCs: A diagnostic assay for SACS variants in peripheral blood cells - A PROSPAX study

MOVEMENT DISORDERS

IF7.6

2024-09-24

PREAI

Tunca, 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

MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study

MOVEMENT DISORDERS

IF7.6

2024-06-07

PREAI

Scaravilli, 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

Digital Gait Outcomes for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Discriminative, Convergent, and Ecological Validity in a Multicenter Study (PROSPAX)

MOVEMENT DISORDERS

IF7.6

2024-06-07

OAAI

Beichert, Lukas; Ilg, Winfried; Kessler, Christoph; Traschuetz, Andreas; Reich, Selina; Santorelli, Filippo M.; Basak, Ayse Nazli; Gagnon, Cynthia; Schuele, Rebecca; Synofzik, Matthis

α-Synuclein Pathology in PRKN-Linked Parkinson's Disease: New Insights from a Blood-Based Seed Amplification Assay Α-突触核蛋白在PRKN相关帕金森病中的病理学: 基于血液的种子扩增测定的新见解

ANNALS OF NEUROLOGY

IF7.7

2024-03-28

OAAI

Kluge, 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

Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

IF7.5

2023-11-24

OAAI

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; Boennemann, Carsten G.; Basak, A. Nazli; Hornemann, Thorsten; Zuchner, Stephan

TARGETING THE MUTANT SOD1G93A PROTEIN-INDUCED OXIDATIVE STRESS IN THE CENTRAL NERVOUS SYSTEM AND PERIPHERAL TISSUES CAN BE A PROMISING THERAPEUTIC APPROACH IN ALS DISEASE

FREE RADICAL BIOLOGY AND MEDICINE

IF8.2

2023-05-01

OAAI

Aydemir, Duygu; Kulac, Ibrahim; Surucu, Selcuk; Basak, Ayse Nazli; Ulusu, Nuriye Nuray

研究方向