Works matching AU Ali Torkamani

Results: 76
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    Large-scale rare variant burden testing in Parkinson's disease.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 11, p. 4622, doi. 10.1093/brain/awad214
    By:
    • Makarious, Mary B;
    • Lake, Julie;
    • Pitz, Vanessa;
    • Fu, Allen Ye;
    • Guidubaldi, Joseph L;
    • Solsberg, Caroline Warly;
    • Bandres-Ciga, Sara;
    • Leonard, Hampton L;
    • Kim, Jonggeol Jeffrey;
    • Billingsley, Kimberley J;
    • Grenn, Francis P;
    • Jerez, Pilar Alvarez;
    • Alvarado, Chelsea X;
    • Iwaki, Hirotaka;
    • Ta, Michael;
    • Vitale, Dan;
    • Hernandez, Dena;
    • Torkamani, Ali;
    • Ryten, Mina;
    • Hardy, John
    Publication type:
    Article
    19

    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
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    Spectrum of K<sub>V</sub> 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders.

    Published in:
    2019
    By:
    • Kang, Seok Kyu;
    • Vanoye, Carlos G.;
    • Misra, Sunita N.;
    • Echevarria, Dennis M.;
    • Calhoun, Jeffrey D.;
    • O'Connor, John B.;
    • Fabre, Katarina L.;
    • McKnight, Dianalee;
    • Demmer, Laurie;
    • Goldenberg, Paula;
    • Grote, Lauren E.;
    • Thiffault, Isabelle;
    • Saunders, Carol;
    • Strauss, Kevin A.;
    • Torkamani, Ali;
    • der Smagt, Jasper;
    • Gassen, Koen;
    • Carson, Robert P.;
    • Diaz, Jullianne;
    • Leon, Eyby
    Publication type:
    journal article
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    De novo KCNB1 mutations in epileptic encephalopathy.

    Published in:
    Annals of Neurology, 2014, v. 76, n. 4, p. 529, doi. 10.1002/ana.24263
    By:
    • Torkamani, Ali;
    • Bersell, Kevin;
    • Jorge, Benjamin S.;
    • Bjork, Robert L.;
    • Friedman, Jennifer R.;
    • Bloss, Cinnamon S.;
    • Cohen, Julie;
    • Gupta, Siddharth;
    • Naidu, Sakkubai;
    • Vanoye, Carlos G.;
    • George, Alfred L.;
    • Kearney, Jennifer A.
    Publication type:
    Article
    22

    A brain DNA co‐methylation network analysis of psychosis in Alzheimer's disease.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2025, v. 21, n. 2, p. 1, doi. 10.1002/alz.14501
    By:
    • Kouhsar, Morteza;
    • Weymouth, Luke;
    • Smith, Adam R.;
    • Imm, Jennifer;
    • Bredemeyer, Claudia;
    • Wedatilake, Yehani;
    • Torkamani, Ali;
    • Bergh, Sverre;
    • Selbæk, Geir;
    • Mill, Jonathan;
    • Ballard, Clive;
    • Sweet, Robert A.;
    • Kofler, Julia;
    • Creese, Byron;
    • Pishva, Ehsan;
    • Lunnon, Katie
    Publication type:
    Article
    23

    Co‐methylation network analysis of Psychosis in Alzheimer's disease.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2024, v. 20, p. 1, doi. 10.1002/alz.088982
    By:
    • Kouhsar, Morteza P;
    • Weymouth, Luke;
    • Smith, Adam;
    • Imm, Jennifer;
    • Bredemeyer, Claudia;
    • Wedatilake, Yehani;
    • Torkamani, Ali;
    • Bergh, Sverre;
    • Selbaek, Geir;
    • Mill, Jonathan;
    • Ballard, Clive G;
    • Sweet, Robert;
    • Kofler, Julia;
    • Creese, Byron;
    • Pishva, Ehsan;
    • Lunnon, Katie
    Publication type:
    Article
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    Transcription‐based drug repurposing in Alzheimer disease psychosis.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.065938
    By:
    • Kouhsar, Morteza P;
    • Creese, Byron;
    • Weymouth, Luke Stephen;
    • Smith, Adam R.;
    • Bergh, Sverre;
    • Wedatilake, Yehani;
    • Selbæk, Geir;
    • Torkamani, Ali;
    • Mill, Jonathan;
    • Ballard, Clive G;
    • Sweet, Robert;
    • Kofler, Julia;
    • Pishva, Ehsan;
    • Lunnon, Katie
    Publication type:
    Article
    28

    Machine learning‐based prediction of cognitive outcomes in de novo Parkinson's disease.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2022, v. 18, n. 5, p. 1, doi. 10.1002/alz.067067
    By:
    • Harvey, Joshua;
    • Reijnders, Rick A;
    • Cavill, Rachel;
    • Duits, Annelien;
    • Köhler, Sebastian;
    • Eijssen, Lars M.T.;
    • Rutten, Bart P.F.;
    • Shireby, Gemma;
    • Torkamani, Ali;
    • Creese, Byron;
    • Leentjens, Albert F.G.;
    • Lunnon, Katie;
    • Pishva, Ehsan
    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