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Krygowska‐Wajs, Anna

https://orcid.org/0000-0001-5163-479X

Mayo Clinic

From the Department of Neuroscience (K.O., S.K., F.C.F., M.A., C.L., O.L.-B., E.L.M.-L., A.I.S.-O., R.L.W., W.S., D.W.D., O.A.R.), the Division of Biomedical Statistics and Informatics (M.G.H.), and the Department of Neurology (A.J.S., R.J.U., N.R.G.-R., Z

Citations 3

Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders
Ogaki, Kotaro, Koga, Shunsuke , Fiesel, Fabienne C. , Ando, Maya , Lorenzo‐Betancor, Oswaldo , Moussaud-Lamodière, Elisabeth L., Soto‐Ortolaza, Alexandra I., Walton, Ronald L., Strongosky, Audrey , Uitti, Ryan J. , McCarthy, Allan, Lynch, Timothy , Siuda, Joanna , Opala, Grzegorz, Rudzińska, Monika , Krygowska‐Wajs, Anna , Barcikowska, Maria , Puschmann, Andreas , Funayama, Manabu , Hattori, Nobutaka , Parisi, Joseph E., Petersen, Ronald C. , Springer, Wolfdieter , Ross, Owen A. , Soto‐Beasley, Alexandra I. , Labbé, Catherine, Lorenzo-Betancor, Oswaldo, Soto-Ortolaza, Alexandra I., Strongosky, Audrey J, Krygowska-Wajs, Anna, Czyzewski, Krzysztof, Heckman, Michael G. , Labbé, Catherine , Siuda, Joanna S. , Czyźewski, K , Nishioka, Kenya , Graff, Caroline , Boeve, Bradley F. , Wszołek, Zbigniew K. , Dickson, Dennis W. , Koga, Shunsuke , Ross, Owen A , Puschmann, Andreas , Fiesel, Fabienne C , Springer, Wolfdieter , Rudzinska-Bar, Monika , Beasley, Alexandra I

Neurology | November 11, 2015 | Volume: 85 | Issue: 23 | Pages: 2016-2025

10.1212/wnl.0000000000002170 Get It

DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients
Lorenzo‐Betancor, Oswaldo , Ogaki, Kotaro, Soto‐Ortolaza, Alexandra I., Walton, Ronald L., Strongosky, Audrey , Gerpen, Jay A. van, Uitti, Ryan J. , McLean, Pamela J. , Springer, Wolfdieter , Siuda, Joanna , Opala, Grzegorz, Krygowska‐Wajs, Anna , Barcikowska, Maria , McCarthy, A., Lynch, Timothy , Puschmann, Andreas , Rektorová, Irena , Sanotsky, Yanosh, Vilariño‐Güell, Carles , Farrer, Matthew J. , Ferman, Tanis J. , Petersen, Ronald C. , Parisi, Joseph E., Graff‐Radford, Neill R. , Ross, Owen A. , Soto‐Beasley, Alexandra I. , Labbé, Catherine , Siuda, Joanna S. , Czyźewski, K , Boeve, Bradley F. , Dickson, Dennis W. , Wszołek, Zbigniew K. , Ross, Owen A , Puschmann, Andreas , Springer, Wolfdieter , Ferman, Tanis J , Rektorova, Irena , Beasley, Alexandra I , McLean, Pamela J

European Journal of Neurology | August 17, 2015 | Volume: 22 | Issue: 9 | Pages: 1323-1325

10.1111/ene.12770 Get It

BackgroundRecently, a novel mutation in exon 24 of DNAJC13 gene (p.Asn855Ser, rs387907571) has been reported to cause autosomal dominant Parkinson's disease (PD) in a multi‐incident Mennonite family.MethodsIn the present study the mutation containing exon of the DNAJC13 gene has been sequenced in a Caucasian series consisting of 1938 patients with clinical PD and 838 with pathologically diagnosed Lewy body disease (LBD).ResultsOur sequence analysis did not identify any coding variants in exon 24 of DNAJC13. Two previously described variants in intron 23 (rs200204728 and rs2369796) were observed.ConclusionOur results indicate that the region surrounding the DNAJC13 p.Asn855Ser substitution is highly conserved and mutations in this exon are not a common cause of PD or LBD among Caucasian populations.
Characterization of DCTN1 genetic variability in neurodegeneration
Vilariño-Güell, C., Wider, Christian, Soto‐Ortolaza, Alexandra I., Cobb, Stephanie A., Kachergus, Jennifer M., Keeling, Brett H. , Dächsel, Justus C., Hulihan, Mary , Dickson, Dennis W. , Uitti, Ryan J. , Graff‐Radford, Neill R. , Boeve, B. F., Josephs, K., Gwinn, Katrina , Aasly, Jan , Hentati, Fayçal, Destée, A., Krygowska‐Wajs, Anna , Chartier‐Harlin, Marie‐Christine , Ross, Owen A. , Rademakers, Rosa , Farrer, Matthew J. , Vilariño‐Güell, Carles , Soto‐Beasley, Alexandra I. , Vilariño-Güell, C., Wszołek, Zbigniew K. , Miller, Bruce L. , Boylan, Khrista , Adler, Charles H. , Dickson, Dennis W , Ross, Owen A , Beasley, Alexandra I

Neurology | June 8, 2009 | Volume: 72 | Issue: 23 | Pages: 2024-2028

10.1212/wnl.0b013e3181a92c4c Get It