| Year |
Citation |
Score |
| 2023 |
Bayraktar E, Çiftçi V, Uysal H, Başak AN. Another mutation in the gene: the first Turkish patient with -His47Arg, a case report. Frontiers in Genetics. 14: 1208673. PMID 37693322 DOI: 10.3389/fgene.2023.1208673 |
0.312 |
|
| 2022 |
Öztop-Çakmak Ö, Şimşir G, Tekgül Ş, Aygün MS, Gökler O, Kahyaoğlu B, Kaya ZE, Palvadeau R, Başak AN, Ertan S. VPS13D-based disease: Expansion of the clinical phenotype in two brothers and mutation diversity in the Turkish population. Revue Neurologique. 178: 907-913. PMID 36156252 DOI: 10.1016/j.neurol.2022.05.005 |
0.328 |
|
| 2021 |
Güler S, Gül T, Güler Ş, Haerle MC, Başak AN. Early-Onset Parkinson's Disease: A Novel Deletion Comprising the DJ-1 and TNFRSF9 Genes. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 34605055 DOI: 10.1002/mds.28812 |
0.319 |
|
| 2021 |
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, ... ... Basak AN, et al. Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis. Jama Neurology. PMID 34459874 DOI: 10.1001/jamaneurol.2021.2598 |
0.343 |
|
| 2021 |
Vural A, Şimşir G, Tekgül Ş, Koçoğlu C, Akçimen F, Kartal E, Şen NE, Lahut S, Ömür Ö, Saner N, Gül T, Bayraktar E, Palvadeau R, Tunca C, Pirkevi Çetinkaya C, et al. The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 33624863 DOI: 10.1002/mds.28518 |
0.728 |
|
| 2021 |
Diker S, Gelener P, Teralı K, Ergoren MC, Tunca C, Başak AN, Tan E. A combined clinical and computational approach to understand the SOD1-mediated pathogenesis of rapidly progressive familial amyotrophic lateral sclerosis. Acta Neurologica Belgica. PMID 33420941 DOI: 10.1007/s13760-020-01588-9 |
0.309 |
|
| 2020 |
Emekli AS, Samanci B, Şimşir G, Hanagasi HA, Gürvit H, Bilgiç B, Başak AN. A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia. Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. PMID 33210227 DOI: 10.1007/s10072-020-04869-6 |
0.334 |
|
| 2020 |
Yetim E, Gul T, Basak AN, Saka E. An Unusual Familial Dementia Associated with G131V PRNP Mutation. European Journal of Neurology. PMID 32986314 DOI: 10.1111/ene.14559 |
0.315 |
|
| 2020 |
Tunca C, Şeker T, Akçimen F, Coşkun C, Bayraktar E, Palvadeau R, Zor S, Koçoğlu C, Kartal E, Şen NE, Hamzeiy H, Özoğuz Erimiş A, Norman U, Karakahya O, Olgun G, et al. Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database. Human Mutation. PMID 32579787 DOI: 10.1002/Humu.24055 |
0.341 |
|
| 2019 |
Reichenstein I, Eitan C, Diaz-Garcia S, Haim G, Magen I, Siany A, Hoye ML, Rivkin N, Olender T, Toth B, Ravid R, Mandelbaum AD, Yanowski E, Liang J, Rymer JK, et al. Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology. Science Translational Medicine. 11. PMID 31852800 DOI: 10.1126/Scitranslmed.Aav5264 |
0.322 |
|
| 2019 |
Candayan A, Yunisova G, Çakar A, Durmuş H, Başak AN, Parman Y, Battaloğlu E. The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype. Neurogenetics. PMID 31673878 DOI: 10.1007/s10048-019-00594-1 |
0.317 |
|
| 2019 |
Cooper-Knock J, Moll T, Ramesh T, Castelli L, Beer A, Robins H, Fox I, Niedermoser I, Van Damme P, Moisse M, Robberecht W, Hardiman O, Panades MP, Assialioui A, Mora JS, ... Basak AN, et al. Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis. Cell Reports. 26: 2298-2306.e5. PMID 30811981 DOI: 10.1016/J.Celrep.2019.02.006 |
0.4 |
|
| 2018 |
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, ... ... Basak AN, et al. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron. 97: 1268-1283.e6. PMID 29566793 DOI: 10.1016/J.Neuron.2018.02.027 |
0.498 |
|
| 2018 |
Tunca C, Akçimen F, Coşkun C, Gündoğdu-Eken A, Kocoglu C, Çevik B, Bekircan-Kurt CE, Tan E, Başak AN. ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree. European Journal of Human Genetics : Ejhg. PMID 29453415 DOI: 10.1038/S41431-018-0107-5 |
0.401 |
|
| 2018 |
Kocoglu C, Gundogdu A, Kocaman G, Kahraman-Koytak P, Uluc K, Kiziltan G, Caglayan AO, Bilguvar K, Vural A, Basak AN. Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families. Neurology. Genetics. 4: e218. PMID 29379883 DOI: 10.1212/Nxg.0000000000000218 |
0.433 |
|
| 2017 |
Lahut S, Gispert S, Ömür Ö, Depboylu C, Seidel K, Domínguez-Bautista JA, Brehm N, Tireli H, Hackmann K, Pirkevi C, Leube B, Ries V, Reim K, Brose N, den Dunnen WF, et al. Blood RNA biomarkers in prodromal PARK4 and REM sleep behavior disorder show role of complexin-1 loss for risk of Parkinson's disease. Disease Models & Mechanisms. PMID 28108469 DOI: 10.1242/Dmm.028035 |
0.69 |
|
| 2016 |
Kotan D, Iskender C, Özoğuz Erimiş A, Başak AN. A Turkish Family with a Familial ALS-positive UBQLN2-S340I Mutation. Noro Psikiyatri Arsivi. 53: 283-285. PMID 28373810 DOI: 10.5152/npa.2016.12371 |
0.674 |
|
| 2016 |
Kurt S, Cevik B, Aksoy D, Sahbaz EI, Gundogdu Eken A, Basak AN. Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia. Case Reports in Neurological Medicine. 2016: 4515938. PMID 27668106 DOI: 10.1155/2016/4515938 |
0.366 |
|
| 2016 |
Sen NE, Drost J, Gispert S, Torres-Odio S, Damrath E, Klinkenberg M, Hamzeiy H, Akdal G, Güllüoğlu H, Basak AN, Auburger G. Search for SCA2 blood RNA biomarkers highlights Ataxin-2 as strong modifier of the mitochondrial factor PINK1 levels. Neurobiology of Disease. PMID 27597528 DOI: 10.1016/J.Nbd.2016.09.002 |
0.389 |
|
| 2016 |
van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Võsa U, de Jong S, Robinson MR, Yang J, Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, ... ... Basak AN, et al. Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nature Genetics. 48: 1043-8. PMID 27455348 DOI: 10.1038/Ng.3622 |
0.452 |
|
| 2016 |
Jiang Z, Luo HY, Huang S, Farrell JJ, Davis L, Théberge R, Benson KA, Riolueang S, Viprakasit V, Al-Allawi NA, Ünal S, Gümrük F, Akar N, Başak AN, Osorio L, et al. The genetic basis of asymptomatic codon 8 frame-shift (HBB:c25_26delAA) β(0) -thalassaemia homozygotes. British Journal of Haematology. PMID 26771086 DOI: 10.1111/Bjh.13909 |
0.349 |
|
| 2015 |
Iskender C, Kartal E, Akcimen F, Kocoglu C, Ozoguz A, Kotan D, Eraksoy M, Parman YG, Basak AN. Turkish families with juvenile motor neuron disease broaden the phenotypic spectrum of SPG11. Neurology. Genetics. 1: e25. PMID 27066562 DOI: 10.1212/Nxg.0000000000000025 |
0.699 |
|
| 2015 |
Erol AM, Kilic AK, Celik A, Celik C, Basak AN. Brait-Fahn-Schwarz disease: Parkinson's disease and amyotrophic lateral sclerosis complex. Acta Neurologica Belgica. PMID 26319125 DOI: 10.1007/S13760-015-0531-Z |
0.33 |
|
| 2014 |
Lahut S, Vadasz D, Depboylu C, Ries V, Krenzer M, Stiasny-Kolster K, Basak AN, Oertel WH, Auburger G. The PD-associated alpha-synuclein promoter Rep1 allele 2 shows diminished frequency in restless legs syndrome. Neurogenetics. 15: 189-92. PMID 24863655 DOI: 10.1007/S10048-014-0407-Z |
0.748 |
|
| 2014 |
Jiang Z, Huang S, Luo HY, Akar N, Basak A, Al-Allawi N, Unal S, Gumruk F, Davis L, Morrison T, Campbell A, Gallagher PG, Forget BG, Steinberg MH, Chui DH. Assessment of HbF QTLs Affecting Disease Severity and Genetic Analysis in Patients Homozygous for Codon 8 (–AA) β0-Thalassemia Mutation Blood. 124: 2690-2690. DOI: 10.1182/Blood.V124.21.2690.2690 |
0.381 |
|
| 2013 |
Agim ZS, Esendal M, Briollais L, Uyan O, Meschian M, Martinez LA, Ding Y, Basak AN, Ozcelik H. Discovery, validation and characterization of Erbb4 and Nrg1 haplotypes using data from three genome-wide association studies of schizophrenia. Plos One. 8: e53042. PMID 23301017 DOI: 10.1371/Journal.Pone.0053042 |
0.733 |
|
| 2011 |
Enunlu I, Ozansoy M, Basak AN. Alfa-class prefoldin protein UXT is a novel interacting partner of Amyotrophic Lateral Sclerosis 2 (Als2) protein. Biochemical and Biophysical Research Communications. 413: 471-5. PMID 21907703 DOI: 10.1016/J.Bbrc.2011.08.121 |
0.71 |
|
| 2011 |
Gulsuner S, Tekinay AB, Doerschner K, Boyaci H, Bilguvar K, Unal H, Ors A, Onat OE, Atalar E, Basak AN, Topaloglu H, Kansu T, Tan M, Tan U, Gunel M, et al. Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. Genome Research. 21: 1995-2003. PMID 21885617 DOI: 10.1101/Gr.126110.111 |
0.351 |
|
| 2011 |
Giardine B, Borg J, Higgs DR, Peterson KR, Philipsen S, Maglott D, Singleton BK, Anstee DJ, Basak AN, Clark B, Costa FC, Faustino P, Fedosyuk H, Felice AE, Francina A, et al. Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. Nature Genetics. 43: 295-301. PMID 21423179 DOI: 10.1038/Ng.785 |
0.333 |
|
| 2011 |
Basak AN, Tuzmen S. Genetic predisposition to β-thalassemia and sickle cell anemia in Turkey: a molecular diagnostic approach. Methods in Molecular Biology (Clifton, N.J.). 700: 291-307. PMID 21204041 DOI: 10.1007/978-1-61737-954-3_19 |
0.746 |
|
| 2010 |
Lesage S, Patin E, Condroyer C, Leutenegger AL, Lohmann E, Giladi N, Bar-Shira A, Belarbi S, Hecham N, Pollak P, Ouvrard-Hernandez AM, Bardien S, Carr J, Benhassine T, Tomiyama H, ... ... Basak AN, et al. Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans. Human Molecular Genetics. 19: 1998-2004. PMID 20197411 DOI: 10.1093/Hmg/Ddq081 |
0.756 |
|
| 2010 |
Kurt S, Karaer H, Kaplan Y, Akat I, Battaloglu E, Eruslu D, Basak AN. Combination of myotonic dystrophy and hereditary motor and sensory neuropathy. Journal of the Neurological Sciences. 288: 197-9. PMID 19846120 DOI: 10.1016/J.Jns.2009.09.028 |
0.304 |
|
| 2009 |
Haghi M, Feizi AA, Feizi MA, Pouladi N, Basak AN. Is the frameshift codons 8/9 (+G) [FSC 8/9 (+G)] beta-thalassemia mutation, detected by the polymerase chain reaction-amplification refractory mutation system, really FSC 8/9 (+G)? Hemoglobin. 33: 279-82. PMID 19657845 DOI: 10.1080/03630260903081075 |
0.363 |
|
| 2008 |
Selcuk Duru N, Celkan T, Civilibal M, Ozbek NO, Basak AN, Elevli M. Coinheritance of sickle cell anemia and hereditary spherocytosis. Pediatric Blood & Cancer. 51: 560-3. PMID 18561176 DOI: 10.1002/Pbc.21642 |
0.339 |
|
| 2006 |
Metzger S, Bauer P, Tomiuk J, Laccone F, Didonato S, Gellera C, Mariotti C, Lange HW, Weirich-Schwaiger H, Wenning GK, Seppi K, Melegh B, Havasi V, Balikó L, Wieczorek S, ... ... Basak AN, et al. Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease. Human Genetics. 120: 285-92. PMID 16847693 DOI: 10.1007/S00439-006-0221-2 |
0.376 |
|
| 2006 |
Metzger S, Bauer P, Tomiuk J, Laccone F, Didonato S, Gellera C, Soliveri P, Lange HW, Weirich-Schwaiger H, Wenning GK, Melegh B, Havasi V, Balikó L, Wieczorek S, Arning L, ... ... Basak AN, et al. The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease. Neurogenetics. 7: 27-30. PMID 16369839 DOI: 10.1007/s10048-005-0023-z |
0.725 |
|
| 2002 |
Bilenoglu O, Basak AN, Russell JE. A 3'UTR mutation affects beta-globin expression without altering the stability of its fully processed mRNA. British Journal of Haematology. 119: 1106-14. PMID 12472595 DOI: 10.1046/J.1365-2141.2002.03989.X |
0.72 |
|
| 1997 |
Tüzmen S, Basak AN, Baysal E. Rare beta-thalassemia mutation IVS-II-848 (C-A) first reported in a Turkish Cypriot family. American Journal of Hematology. 54: 338-9. PMID 9092695 DOI: 10.1002/(Sici)1096-8652(199704)54:4<338::Aid-Ajh16>3.0.Co;2-7 |
0.354 |
|
| 1996 |
Altay C, Gürgey A, Basak AN, Tadmouri GO, Schroeder-Kurt T. Fanconi aplastic anemia associated with beta-thalassemia trait. American Journal of Hematology. 52: 239-40. PMID 8756104 DOI: 10.1002/(Sici)1096-8652(199607)52:3<239::Aid-Ajh26>3.0.Co;2-9 |
0.681 |
|
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