Found: 8

Select item for more details and to access through your institution.

  • Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.

    Published in:
    Science Translational Medicine, 2017, v. 9, n. 388, p. 1, doi. 10.1126/scitranslmed.aad9157
    By:
    • Smith, Bradley N.;
    • Topp, Simon D.;
    • Fallini, Claudia;
    • Hideki Shibata;
    • Han-Jou Chen;
    • Troakes, Claire;
    • King, Andrew;
    • Ticozzi, Nicola;
    • Kenna, Kevin P.;
    • Soragia-Gkazi, Athina;
    • Miller, Jack W.;
    • Akane Sato;
    • Dias, Diana Marques;
    • Jeon, Maryangel;
    • Vance, Caroline;
    • Chun Hao Wong;
    • de Majo, Martina;
    • Kattuah, Wejdan;
    • Mitchell, Jacqueline C.;
    • Scotter, Emma L.
    Publication type:
    Article

  • RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy.

    Published in:
    2019
    By:
    • Chen, Han-Jou;
    • Topp, Simon D;
    • Hui, Ho Sang;
    • Zacco, Elsa;
    • Katarya, Malvika;
    • McLoughlin, Conor;
    • King, Andrew;
    • Smith, Bradley N;
    • Troakes, Claire;
    • Pastore, Annalisa;
    • Shaw, Christopher E
    Publication type:
    journal article

  • Deep Resequencing Unveils Genetic Architecture of ADIPOQ and Identifies a Novel Low-Frequency Variant Strongly Associated With Adiponectin Variation.

    Published in:
    Diabetes, 2012, v. 61, n. 5, p. 1297, doi. 10.2337/db11-0985
    By:
    • Warren, Liling L.;
    • Li Li;
    • Nelson, Matthew R.;
    • Ehm, Margaret G.;
    • Shen, Judong;
    • Fraser, Dana J.;
    • Aponte, Jennifer L.;
    • Nangle, Keith L.;
    • Slater, Andrew J.;
    • Woollard, Peter M.;
    • Hall, Matt D.;
    • Topp, Simon D.;
    • Xin Yuan;
    • Cardon, Lon R.;
    • Chissoe, Stephanie L.;
    • Mooser, Vincent;
    • Morris, Andrew D.;
    • Palmer, Colin N. A.;
    • Perry, John R.;
    • Frayling, Timothy M.
    Publication type:
    Article

  • The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.

    Published in:
    Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34620-y
    By:
    • Opie-Martin, Sarah;
    • Iacoangeli, Alfredo;
    • Topp, Simon D.;
    • Abel, Olubunmi;
    • Mayl, Keith;
    • Mehta, Puja R.;
    • Shatunov, Aleksey;
    • Fogh, Isabella;
    • Bowles, Harry;
    • Limbachiya, Naomi;
    • Spargo, Thomas P.;
    • Al-Khleifat, Ahmad;
    • Williams, Kelly L.;
    • Jockel-Balsarotti, Jennifer;
    • Bali, Taha;
    • Self, Wade;
    • Henden, Lyndal;
    • Nicholson, Garth A.;
    • Ticozzi, Nicola;
    • McKenna-Yasek, Diane
    Publication type:
    Article

  • SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed.

    Published in:
    Brain Communications, 2021, v. 3, n. 4, p. 1, doi. 10.1093/braincomms/fcab236
    By:
    • Iacoangeli, Alfredo;
    • Fogh, Isabella;
    • Selvackadunco, Sashika;
    • Topp, Simon D.;
    • Shatunov, Aleksey;
    • van Rheenen, Wouter;
    • Al-Khleifat, Ahmad;
    • Opie-Martin, Sarah;
    • Ratti, Antonia;
    • Calvo, Andrea;
    • Van Damme, Philip;
    • Robberecht, Wim;
    • Chio, Adriano;
    • Dobson, Richard J.;
    • Hardiman, Orla;
    • Shaw, Christopher E.;
    • van den Berg, Leonard H.;
    • Andersen, Peter M.;
    • Smith, Bradley N.;
    • Silani, Vincenzo
    Publication type:
    Article

  • Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.

    Published in:
    JAMA Neurology, 2021, v. 78, n. 10, p. 1236, doi. 10.1001/jamaneurol.2021.2598
    By:
    • Johnson, Janel O.;
    • Chia, Ruth;
    • Miller, Danny E.;
    • Li, Rachel;
    • Kumaran, Ravindran;
    • Abramzon, Yevgeniya;
    • Alahmady, Nada;
    • Renton, Alan E.;
    • Topp, Simon D.;
    • Gibbs, J. Raphael;
    • Cookson, Mark R.;
    • Sabir, Marya S.;
    • Dalgard, Clifton L.;
    • Troakes, Claire;
    • Jones, Ashley R.;
    • Shatunov, Aleksey;
    • Iacoangeli, Alfredo;
    • Al Khleifat, Ahmad;
    • Ticozzi, Nicola;
    • Silani, Vincenzo
    Publication type:
    Article

  • Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.

    Published in:
    2024
    By:
    • Opie-Martin, Sarah;
    • Iacoangeli, Alfredo;
    • Topp, Simon D.;
    • Abel, Olubunmi;
    • Mayl, Keith;
    • Mehta, Puja R.;
    • Shatunov, Aleksey;
    • Fogh, Isabella;
    • Bowles, Harry;
    • Limbachiya, Naomi;
    • Spargo, Thomas P.;
    • Al-Khleifat, Ahmad;
    • Williams, Kelly L.;
    • Jockel-Balsarotti, Jennifer;
    • Bali, Taha;
    • Self, Wade;
    • Henden, Lyndal;
    • Nicholson, Garth A.;
    • Ticozzi, Nicola;
    • McKenna-Yasek, Diane
    Publication type:
    Correction Notice

  • Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.

    Published in:
    Epilepsia (Series 4), 2020, v. 61, n. 5, p. 995, doi. 10.1111/epi.16508
    By:
    • Tang, Shan;
    • Addis, Laura;
    • Smith, Anna;
    • Topp, Simon D.;
    • Pendziwiat, Manuela;
    • Mei, Davide;
    • Parker, Alasdair;
    • Agrawal, Shakti;
    • Hughes, Elaine;
    • Lascelles, Karine;
    • Williams, Ruth E.;
    • Fallon, Penny;
    • Robinson, Robert;
    • Cross, Helen J.;
    • Hedderly, Tammy;
    • Eltze, Christin;
    • Kerr, Tim;
    • Desurkar, Archana;
    • Hussain, Nahin;
    • Kinali, Maria
    Publication type:
    Article