Works matching AU Scholz, Sonja W.

Results: 49
    1

    Implications and opportunities regarding biological frameworks in overt and prodromal dementia with Lewy bodies.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2025, v. 21, n. 7, p. 1, doi. 10.1002/alz.70470
    By:
    • Goldman, Jennifer G.;
    • Boeve, Bradley F.;
    • Galasko, Douglas;
    • Taylor, John‐Paul;
    • Galvin, James E.;
    • Leverenz, James B.;
    • Blanc, Frederic;
    • Halliday, Glenda;
    • Kantarci, Kejal;
    • Lemstra, Afina W.;
    • Leroi, Iracema;
    • Lewis, Simon J. G.;
    • Litvan, Irene;
    • Medsger, Helen;
    • O'Brien, John;
    • Scholz, Sonja W.;
    • Aarsland, Dag;
    • Ikeda, Manabu;
    • McKeith, Ian;
    • Taylor, Angela
    Publication type:
    Article
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    Personality traits are consistently associated with blood mitochondrial DNA copy number estimated from genome sequences in two genetic cohort studies.

    Published in:
    eLife, 2022, p. 1, doi. 10.7554/eLife.77806
    By:
    • Oppong, Richard F.;
    • Terracciano, Antonio;
    • Picard, Martin;
    • Yong Qian;
    • Butler, Thomas J.;
    • Tanaka, Toshiko;
    • Moore, Ann Zenobia;
    • Simonsick, Eleanor M.;
    • Opsahl-Ong, Krista;
    • Coletta, Christopher;
    • Sutin, Angelina R.;
    • Gorospe, Myriam;
    • Resnick, Susan M.;
    • Cucca, Francesco;
    • Scholz, Sonja W.;
    • Traynor, Bryan J.;
    • Schlessinger, David;
    • Ferrucci, Luigi;
    • Jun Ding
    Publication type:
    Article
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    Investigation of the genetic aetiology of Lewy body diseases with and without dementia.

    Published in:
    Brain Communications, 2024, v. 6, n. 4, p. 1, doi. 10.1093/braincomms/fcae190
    By:
    • Wu, Lesley Yue;
    • Real, Raquel;
    • Martinez-Carrasco, Alejandro;
    • Chia, Ruth;
    • Lawton, Michael A;
    • Shoai, Maryam;
    • Bresner, Catherine;
    • Blauwendraat, Cornelis;
    • Singleton, Andrew B;
    • Ryten, Mina;
    • Consortium, International Lewy Body Dementia Genomics;
    • Scholz, Sonja W;
    • Traynor, Bryan J;
    • Williams, Nigel M;
    • Hu, Michele T M;
    • Ben-Shlomo, Yoav;
    • Grosset, Donald G;
    • Hardy, John;
    • Morris, Huw R
    Publication type:
    Article
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    Cognitive determinants of decisional capacity in neurodegenerative disorders.

    Published in:
    Annals of Clinical & Translational Neurology, 2023, v. 10, n. 10, p. 1816, doi. 10.1002/acn3.51871
    By:
    • Portley, Makayla;
    • Sherer, Carolyn;
    • Wu, Tianxia;
    • Farren, Jennifer;
    • Danielian, Laura E.;
    • Scholz, Sonja W.;
    • Traynor, Bryan J.;
    • Ward, Michael E.;
    • Haselhuhn, Taryn;
    • Snyder, Allison;
    • Kwan, Justin Y.
    Publication type:
    Article
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    Detection of mosaic and population-level structural variants with Sniffles2.

    Published in:
    Nature Biotechnology, 2024, v. 42, n. 10, p. 1571, doi. 10.1038/s41587-023-02024-y
    By:
    • Smolka, Moritz;
    • Paulin, Luis F.;
    • Grochowski, Christopher M.;
    • Horner, Dominic W.;
    • Mahmoud, Medhat;
    • Behera, Sairam;
    • Kalef-Ezra, Ester;
    • Gandhi, Mira;
    • Hong, Karl;
    • Pehlivan, Davut;
    • Scholz, Sonja W.;
    • Carvalho, Claudia M. B.;
    • Proukakis, Christos;
    • Sedlazeck, Fritz J.
    Publication type:
    Article
    10

    Genome-wide association study reveals genetic risk underlying Parkinson's disease.

    Published in:
    Nature Genetics, 2009, v. 41, n. 12, p. 1308, doi. 10.1038/ng.487
    By:
    • Simón-Sánchez, Javier;
    • Schulte, Claudia;
    • Bras, Jose M.;
    • Sharma, Manu;
    • Gibbs, J. Raphael;
    • Berg, Daniela;
    • Paisan-Ruiz, Coro;
    • Lichtner, Peter;
    • Scholz, Sonja W.;
    • Hernandez, Dena G.;
    • Krüger, Rejko;
    • Federoff, Monica;
    • Klein, Christine;
    • Goate, Alison;
    • Perlmutter, Joel;
    • Bonin, Michael;
    • Nalls, Michael A.;
    • Illig, Thomas;
    • Gieger, Christian;
    • Houlden, Henry
    Publication type:
    Article
    11

    Genotype, haplotype and copy-number variation in worldwide human populations.

    Published in:
    Nature, 2008, v. 451, n. 7181, p. 998, doi. 10.1038/nature06742
    By:
    • Jakobsson, Mattias;
    • Scholz, Sonja W.;
    • Scheet, Paul;
    • Gibbs, J. Raphael;
    • VanLiere, Jenna M.;
    • Fung, Hon-Chung;
    • Szpiech, Zachary A.;
    • Degnan, James H.;
    • Wang, Kai;
    • Guerreiro, Rita;
    • Bras, Jose M.;
    • Schymick, Jennifer C.;
    • Hernandez, Dena G.;
    • Traynor, Bryan J.;
    • Simon-Sanchez, Javier;
    • Matarin, Mar;
    • Britton, Angela;
    • van de Leemput, Joyce;
    • Rafferty, Ian;
    • Bucan, Maja
    Publication type:
    Article
    12
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    CREB3 gain of function variants protect against ALS.

    Published in:
    Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-58098-6
    By:
    • Megat, Salim;
    • Marques, Christine;
    • Hernán-Godoy, Marina;
    • Sellier, Chantal;
    • Stuart-Lopez, Geoffrey;
    • Dirrig-Grosch, Sylvie;
    • Gorin, Charlotte;
    • Brunet, Aurore;
    • Fischer, Mathieu;
    • Keime, Céline;
    • Kessler, Pascal;
    • Mendoza-Parra, Marco Antonio;
    • Zwamborn, Ramona A. J.;
    • Veldink, Jan H.;
    • Scholz, Sonja W.;
    • Ferrucci, Luigi;
    • Ludolph, Albert;
    • Traynor, Bryan;
    • Chio, Adriano;
    • Dupuis, Luc
    Publication type:
    Article
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    ABCA1 missense mutations are associated with Lewy body dementia.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2024, v. 20, p. 1, doi. 10.1002/alz.092678
    By:
    • Ray, Anindita;
    • Reho, Paolo;
    • Logroscino, Giancarlo;
    • Barmada, Sami;
    • Ross, Owen A.;
    • Scholz, Sonja W;
    • Consortium, International LBD Genomics
    Publication type:
    Article
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    A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.

    Published in:
    Human Molecular Genetics, 2009, v. 18, n. 8, p. 1524, doi. 10.1093/hmg/ddp059
    By:
    • Chiò, Adriano;
    • Schymick, Jennifer C.;
    • Restagno, Gabriella;
    • Scholz, Sonja W.;
    • Lombardo, Federica;
    • Lai, Shiao-Lin;
    • Mora, Gabriele;
    • Fung, Hon-Chung;
    • Britton, Angela;
    • Arepalli, Sampath;
    • Gibbs, J. Raphael;
    • Nalls, Michael;
    • Berger, Stephen;
    • Kwee, Lydia Coulter;
    • Oddone, Eugene Z.;
    • Ding, Jinhui;
    • Crews, Cynthia;
    • Rafferty, Ian;
    • Washecka, Nicole;
    • Hernandez, Dena
    Publication type:
    Article
    19
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    Genomic Analysis Identifies Risk Factors in Restless Legs Syndrome.

    Published in:
    Annals of Neurology, 2024, v. 96, n. 5, p. 994, doi. 10.1002/ana.27040
    By:
    • Akçimen, Fulya;
    • Chia, Ruth;
    • Saez‐Atienzar, Sara;
    • Ruffo, Paola;
    • Rasheed, Memoona;
    • Ross, Jay P.;
    • Liao, Calwing;
    • Ray, Anindita;
    • Dion, Patrick A.;
    • Scholz, Sonja W.;
    • Rouleau, Guy A.;
    • Traynor, Bryan J.
    Publication type:
    Article
    21

    Genome‐Wide Analysis of Structural Variants in Parkinson Disease.

    Published in:
    Annals of Neurology, 2023, v. 93, n. 5, p. 1012, doi. 10.1002/ana.26608
    By:
    • Billingsley, Kimberley J.;
    • Ding, Jinhui;
    • Jerez, Pilar Alvarez;
    • Illarionova, Anastasia;
    • Levine, Kristin;
    • Grenn, Francis P.;
    • Makarious, Mary B.;
    • Moore, Anni;
    • Vitale, Daniel;
    • Reed, Xylena;
    • Hernandez, Dena;
    • Torkamani, Ali;
    • Ryten, Mina;
    • Hardy, John;
    • Chia, Ruth;
    • Scholz, Sonja W.;
    • Traynor, Bryan J.;
    • Dalgard, Clifton L.;
    • Ehrlich, Debra J.;
    • Tanaka, Toshiko
    Publication type:
    Article
    22

    SNCA variants are associated with increased risk for multiple system atrophy.

    Published in:
    Annals of Neurology, 2009, v. 65, n. 5, p. 610, doi. 10.1002/ana.21685
    By:
    • Scholz, Sonja W.;
    • Houlden, Henry;
    • Schulte, Claudia;
    • Sharma, Manu;
    • Li, Abi;
    • Berg, Daniela;
    • Melchers, Anna;
    • Paudel, Reema;
    • Gibbs, J. Raphael;
    • Simon-Sanchez, Javier;
    • Paisan-Ruiz, Coro;
    • Bras, Jose;
    • Ding, Jinhui;
    • Chen, Honglei;
    • Traynor, Bryan J.;
    • Arepalli, Sampath;
    • Zonozi, Ryan R.;
    • Revesz, Tamas;
    • Holton, Janice;
    • Wood, Nick
    Publication type:
    Article
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    Identification and prediction of Parkinson's disease subtypes and progression using machine learning in two cohorts.

    Published in:
    NPJ Parkinson's Disease, 2022, v. 8, n. 1, p. 1, doi. 10.1038/s41531-022-00439-z
    By:
    • Dadu, Anant;
    • Satone, Vipul;
    • Kaur, Rachneet;
    • Hashemi, Sayed Hadi;
    • Leonard, Hampton;
    • Iwaki, Hirotaka;
    • Makarious, Mary B.;
    • Billingsley, Kimberley J.;
    • Bandres‐Ciga, Sara;
    • Sargent, Lana J.;
    • Noyce, Alastair J.;
    • Daneshmand, Ali;
    • Blauwendraat, Cornelis;
    • Marek, Ken;
    • Scholz, Sonja W.;
    • Singleton, Andrew B.;
    • Nalls, Mike A.;
    • Campbell, Roy H.;
    • Faghri, Faraz
    Publication type:
    Article
    32

    A Double‐Blind, Randomized, Placebo‐Controlled Trial of Ursodeoxycholic Acid (UDCA) in Parkinson's Disease.

    Published in:
    Movement Disorders, 2023, v. 38, n. 8, p. 1493, doi. 10.1002/mds.29450
    By:
    • Payne, Thomas;
    • Appleby, Matthew;
    • Buckley, Ellen;
    • van Gelder, Linda M.A.;
    • Mullish, Benjamin H.;
    • Sassani, Matilde;
    • Dunning, Mark J.;
    • Hernandez, Dena;
    • Scholz, Sonja W.;
    • McNeill, Alisdair;
    • Libri, Vincenzo;
    • Moll, Sarah;
    • Marchesi, Julian R.;
    • Taylor, Rosie;
    • Su, Li;
    • Mazzà, Claudia;
    • Jenkins, Thomas M.;
    • Foltynie, Thomas;
    • Bandmann, Oliver
    Publication type:
    Article
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    Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population.

    Published in:
    Movement Disorders, 2022, v. 37, n. 10, p. 2161, doi. 10.1002/mds.29155
    By:
    • Billingsley, Kimberley J.;
    • Alvarez Jerez, Pilar;
    • Grenn, Francis P.;
    • Bandres‐Ciga, Sara;
    • Malik, Laksh;
    • Hernandez, Dena;
    • Torkamani, Ali;
    • Ryten, Mina;
    • Hardy, John;
    • Scholz, Sonja W.;
    • Traynor, Bryan J.;
    • Dalgard, Clifton L.;
    • Ehrlich, Debra J.;
    • Tanaka, Toshiko;
    • Ferrucci, Luigi;
    • Beach, Thomas G.;
    • Serrano, Geidy E.;
    • Ding, Jinhui;
    • Gibbs, J. Raphael;
    • Blauwendraat, Cornelis
    Publication type:
    Article
    35

    GRN Mutations Are Associated with Lewy Body Dementia.

    Published in:
    2022
    By:
    • Reho, Paolo;
    • Koga, Shunsuke;
    • Shah, Zalak;
    • Chia, Ruth;
    • Rademakers, Rosa;
    • Dalgard, Clifton L.;
    • Boeve, Bradley F.;
    • Beach, Thomas G.;
    • Dickson, Dennis W.;
    • Ross, Owen A.;
    • Scholz, Sonja W.;
    • International LBD Genomics Consortium;
    • American Genome Center
    Publication type:
    journal article
    36

    α‐Synuclein Deposition in Sympathetic Nerve Fibers in Genetic Forms of Parkinson's Disease.

    Published in:
    Movement Disorders, 2021, v. 36, n. 10, p. 2346, doi. 10.1002/mds.28667
    By:
    • Isonaka, Risa;
    • Goldstein, David S.;
    • Zhu, William;
    • Yoon, Esther;
    • Ehrlich, Debra;
    • Schindler, Alice B.;
    • Kokkinis, Angela D.;
    • Sabir, Marya S.;
    • Scholz, Sonja W.;
    • Bandres‐Ciga, Sara;
    • Blauwendraat, Cornelis;
    • Gonzalez‐Alegre, Pedro;
    • Lopez, Grisel;
    • Sidransky, Ellen;
    • Narendra, Derek P.
    Publication type:
    Article
    37

    Accelerating Medicines Partnership: Parkinson's Disease. Genetic Resource.

    Published in:
    Movement Disorders, 2021, v. 36, n. 8, p. 1795, doi. 10.1002/mds.28549
    By:
    • Iwaki, Hirotaka;
    • Leonard, Hampton L.;
    • Makarious, Mary B.;
    • Bookman, Matt;
    • Landin, Barry;
    • Vismer, David;
    • Casey, Bradford;
    • Gibbs, J. Raphael;
    • Hernandez, Dena G.;
    • Blauwendraat, Cornelis;
    • Vitale, Daniel;
    • Song, Yeajin;
    • Kumar, Dinesh;
    • Dalgard, Clifton L.;
    • Sadeghi, Mahdiar;
    • Dong, Xianjun;
    • Misquitta, Leonie;
    • Scholz, Sonja W.;
    • Scherzer, Clemens R.;
    • Nalls, Mike A.
    Publication type:
    Article
    38
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    Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score.

    Published in:
    2020
    By:
    • Iwaki, Hirotaka;
    • Blauwendraat, Cornelis;
    • Makarious, Mary B.;
    • Bandrés‐Ciga, Sara;
    • Leonard, Hampton L.;
    • Gibbs, J. Raphael;
    • Hernandez, Dena G.;
    • Scholz, Sonja W.;
    • Faghri, Faraz;
    • Nalls, Mike A.;
    • Singleton, Andrew B.;
    • Noyce, Alastair J;
    • Kaiyrzhanov, Rauan;
    • Middlehurst, Ben;
    • Kia, Demis A;
    • Tan, Manuela;
    • Houlden, Henry;
    • Morris, Huw R;
    • Plun‐Favreau, Helene;
    • Holmans, Peter
    Publication type:
    journal article
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    Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanisms.

    Published in:
    2019
    By:
    • Blauwendraat, Cornelis;
    • Heilbron, Karl;
    • Vallerga, Costanza L.;
    • Bandres‐Ciga, Sara;
    • von Coelln, Rainer;
    • Pihlstrøm, Lasse;
    • Simón‐Sánchez, Javier;
    • Schulte, Claudia;
    • Sharma, Manu;
    • Krohn, Lynne;
    • Siitonen, Ari;
    • Iwaki, Hirotaka;
    • Leonard, Hampton;
    • Noyce, Alastair J.;
    • Tan, Manuela;
    • Gibbs, J. Raphael;
    • Hernandez, Dena G.;
    • Scholz, Sonja W.;
    • Jankovic, Joseph;
    • Shulman, Lisa M.
    Publication type:
    journal article
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    Genetic risk factor clustering within and across neurodegenerative diseases.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 11, p. 4486, doi. 10.1093/brain/awad161
    By:
    • Koretsky, Mathew J;
    • Alvarado, Chelsea;
    • Makarious, Mary B;
    • Vitale, Dan;
    • Levine, Kristin;
    • Bandres-Ciga, Sara;
    • Dadu, Anant;
    • Scholz, Sonja W;
    • Sargent, Lana;
    • Faghri, Faraz;
    • Iwaki, Hirotaka;
    • Blauwendraat, Cornelis;
    • Singleton, Andrew;
    • Nalls, Mike;
    • Leonard, Hampton
    Publication type:
    Article
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    Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2723, doi. 10.1093/brain/awad050
    By:
    • Zanovello, Matteo;
    • Ibáñez, Kristina;
    • Brown, Anna-Leigh;
    • Sivakumar, Prasanth;
    • Bombaci, Alessandro;
    • Santos, Liana;
    • Vugt, Joke J F A van;
    • Narzisi, Giuseppe;
    • Karra, Ramita;
    • Scholz, Sonja W;
    • Ding, Jinhui;
    • Gibbs, J Raphael;
    • Chiò, Adriano;
    • Dalgard, Clifton;
    • Weisburd, Ben;
    • consortium, The American Genome Center (TAGC);
    • Hanna, Michael G;
    • Greensmith, Linda;
    • Phatnani, Hemali;
    • Veldink, Jan H
    Publication type:
    Article
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    ARSA variants in α-synucleinopathies.

    Published in:
    2019
    By:
    • Makarious, Mary B;
    • Diez-Fairen, Monica;
    • Krohn, Lynne;
    • Blauwendraat, Cornelis;
    • Bandres-Ciga, Sara;
    • Ding, Jinhui;
    • Pihlstrøm, Lasse;
    • Houlden, Henry;
    • Scholz, Sonja W;
    • Gan-Or, Ziv
    Publication type:
    Letter