Ayşe Nazlı Başak
Ayşe Nazlı Başak
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Alıntı yapanlar
Alıntı yapanlar
Yıl
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
2482016
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
1532018
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, 2011
1392011
Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion
OE Onat, S Gulsuner, K Bilguvar, AN Basak, H Topaloglu, M Tan, U Tan, ...
European Journal of Human Genetics 21 (3), 281-285, 2013
872013
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
682015
β-Thalassemia in Turkey: a review of the clinical, epidemiological, molecular, and evolutionary aspects
GO Tadmouri, AN Başak
Hemoglobin 25 (2), 227-239, 2001
622001
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
602011
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
552012
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 (1), 27-30, 2006
492006
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
472010
History and origin of β-thalassemia in Turkey: sequence haplotype diversity of β-globin genes
GO Tadmouri, N Garguier, J Demont, P Perrin, AN BAŞAK
Human Biology, 661-674, 2001
442001
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
422013
ATXN2 and its neighbouring gene SH2B3 are associated with increased ALS risk in the Turkish population
S Lahut, Ö Ömür, Ö Uyan, ZS Ağım, A Özoğuz, Y Parman, F Deymeer, ...
PloS one 7 (8), e42956, 2012
422012
MOLECULAR-BASIS AND PRENATAL-DIAGNOSIS OF HEMOGLOBINOPATHIES IN TURKEY
C Altay, AN Basak
International Journal of Pediatric Hematology/Oncology 2 (4), 283-290, 1995
411995
Genetic analysis of candidate genes modifying the age-at-onset in Huntington’s disease
S Metzger, P Bauer, J Tomiuk, F Laccone, S DiDonato, C Gellera, ...
Human genetics 120 (2), 285-292, 2006
402006
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
342017
A 3′ UTR mutation affects β‐globin expression without altering the stability of its fully processed mRNA
O Bilenoglu, AN Basak, JE Russell
British journal of haematology 119 (4), 1106-1114, 2002
242002
Search for SCA2 blood RNA biomarkers highlights Ataxin-2 as strong modifier of the mitochondrial factor PINK1 levels
NE Sen, J Drost, S Gispert, S Torres-Odio, E Damrath, M Klinkenberg, ...
Neurobiology of disease 96, 115-126, 2016
232016
Genome-wide copy number variation in sporadic amyotrophic lateral sclerosis in the Turkish population: deletion of EPHA3 is a possible protective factor
Ö Uyan, Ö Ömür, ZS Ağım, A Özoğuz, H Li, Y Parman, F Deymeer, ...
PloS one 8 (8), e72381, 2013
212013
FBXO7–R498X mutation: phenotypic variability from chorea to early onset parkinsonism within a family
A Gündüz, AG Eken, B Bilgiç, HA Hanagasi, K Bilgüvar, M Günel, ...
Parkinsonism & related disorders 20 (11), 1253-1256, 2014
202014
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