Ayşe Nazlı Başak
Ayşe Nazlı Başak
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Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
W Van Rheenen, A Shatunov, AM Dekker, RL McLaughlin, FP Diekstra, ...
Nature genetics 48 (9), 1043-1048, 2016
Genome-wide analyses identify KIF5A as a novel ALS gene
A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ...
Neuron 97 (6), 1268-1283. e6, 2018
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach
B Giardine, J Borg, DR Higgs, KR Peterson, S Philipsen, D Maglott, ...
Nature genetics 43 (4), 295-301, 2011
Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis
European Journal of Human Genetics 26 (10), 1537-1546, 2018
Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion
O Emre Onat, S Gulsuner, K Bilguvar, A Nazli Basak, H Topaloglu, M Tan, ...
European Journal of Human Genetics 21 (3), 281-285, 2013
Natural history, phenotypic spectrum, and discriminative features of multisystemic RFC1 disease
A Traschütz, A Cortese, S Reich, N Dominik, J Faber, H Jacobi, ...
Neurology 96 (9), e1369-e1382, 2021
The distinct genetic pattern of ALS in Turkey and novel mutations
A Özoğuz, Ö Uyan, G Birdal, C Iskender, E Kartal, S Lahut, Ö Ömür, ...
Neurobiology of aging 36 (4), 1764. e9-1764. e18, 2015
β-Thalassemia in Turkey: A review of the clinical, epidemiological, molecular, and evolutionary aspects
GO Tadmouri, AN Başak
Hemoglobin 25 (2), 227-239, 2001
Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred
S Gulsuner, AB Tekinay, K Doerschner, H Boyaci, K Bilguvar, H Unal, ...
Genome Research 21 (12), 1995-2003, 2011
The molecular basis of β-thalassemia in Turkey
AN Başak, H Özçelik, A Özer, A Tolun, M Aksoy, L Ağaoğlu, F Ridolfi, ...
Human genetics 89, 315-318, 1992
Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS
M Synofzik, D Ronchi, I Keskin, AN Basak, C Wilhelm, C Gobbi, A Birve, ...
Human molecular genetics 21 (16), 3568-3574, 2012
Efficient prevention of neurodegenerative diseases by depletion of starvation response factor Ataxin-2
G Auburger, NE Sen, D Meierhofer, AN Başak, AD Gitler
Trends in neurosciences 40 (8), 507-516, 2017
Mutations in the glycosyltransferase domain of GLT8D1 are associated with familial amyotrophic lateral sclerosis
J Cooper-Knock, T Moll, T Ramesh, L Castelli, A Beer, H Robins, I Fox, ...
Cell reports 26 (9), 2298-2306. e5, 2019
Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans
S Lesage, E Patin, C Condroyer, AL Leutenegger, E Lohmann, N Giladi, ...
Human Molecular Genetics 19 (10), 1998-2004, 2010
The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington’s disease
S Metzger, P Bauer, J Tomiuk, F Laccone, S Didonato, C Gellera, ...
Neurogenetics 7, 27-30, 2006
Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A‐Ataxia: A Multicenter Study of 59 Patients
A Traschütz, T Schirinzi, L Laugwitz, NH Murray, CA Bingman, S Reich, ...
Annals of neurology 88 (2), 251-263, 2020
The genetic structure of the Turkish population reveals high levels of variation and admixture
ME Kars, AN Başak, OE Onat, K Bilguvar, J Choi, Y Itan, C Çağlar, ...
Proceedings of the National Academy of Sciences 118 (36), e2026076118, 2021
Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis
JO Johnson, R Chia, DE Miller, R Li, R Kumaran, Y Abramzon, ...
JAMA neurology 78 (10), 1236-1248, 2021
Safety and efficacy of non‐steroidal anti‐inflammatory drugs to reduce ileus after colorectal surgery
EuroSurg Collaborative, SJ Chapman, D Clerc, R Blanco‐Colino, A Otto, ...
British Journal of Surgery 107 (2), e161-e169, 2020
Discovery, validation and characterization of Erbb4 and Nrg1 haplotypes using data from three genome-wide association studies of schizophrenia
ZS Agim, M Esendal, L Briollais, O Uyan, M Meschian, LAM Martinez, ...
PloS one 8 (1), e53042, 2013
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