Works by Küsters, Benno


Results: 41
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    Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.

    Published in:
    Clinical Genetics, 2020, v. 97, n. 4, p. 556, doi. 10.1111/cge.13706
    By:
    • Panneman, Daan M.;
    • Wortmann, Saskia B.;
    • Haaxma, Charlotte A.;
    • Hasselt, Peter M.;
    • Wolf, Nicole I.;
    • Hendriks, Yvonne;
    • Küsters, Benno;
    • Emst‐de Vries, Sjenet;
    • Westerlo, Els;
    • Koopman, Werner J.H.;
    • Wintjes, Liesbeth;
    • Brandt, Frans;
    • Vries, Maaike;
    • Lefeber, Dirk J.;
    • Smeitink, Jan A.M.;
    • Rodenburg, Richard J.
    Publication type:
    Article
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    Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.

    Published in:
    Nature Genetics, 2013, v. 45, n. 9, p. 1055, doi. 10.1038/ng.2716
    By:
    • Azizan, Elena A B;
    • Poulsen, Hanne;
    • Tuluc, Petronel;
    • Zhou, Junhua;
    • Clausen, Michael V;
    • Lieb, Andreas;
    • Maniero, Carmela;
    • Garg, Sumedha;
    • Bochukova, Elena G;
    • Zhao, Wanfeng;
    • Shaikh, Lalarukh Haris;
    • Brighton, Cheryl A;
    • Teo, Ada E D;
    • Davenport, Anthony P;
    • Dekkers, Tanja;
    • Tops, Bas;
    • Küsters, Benno;
    • Ceral, Jiri;
    • Yeo, Giles S H;
    • Neogi, Sudeshna Guha
    Publication type:
    Article
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    Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice.

    Published in:
    2022
    By:
    • Bugiardini, Enrico;
    • Nunes, Andreia M.;
    • Oliveira-Santos, Ariany;
    • Dagda, Marisela;
    • Fontelonga, Tatiana M.;
    • Barraza-Flores, Pamela;
    • Pittman, Alan M.;
    • Morrow, Jasper M.;
    • Parton, Matthew;
    • Houlden, Henry;
    • Elliott, Perry M.;
    • Syrris, Petros;
    • Maas, Roderick P.;
    • Akhtar, Mohammed M.;
    • Küsters, Benno;
    • Raaphorst, Joost;
    • Schouten, Meyke;
    • Kamsteeg, Erik-Jan;
    • van Engelen, Baziel;
    • Hanna, Michael G.
    Publication type:
    journal article
    15

    First patho-anatomical investigation of the brain of a SCA19 patient.

    Published in:
    Neuropathology & Applied Neurobiology, 2014, v. 40, n. 5, p. 640, doi. 10.1111/nan.12128
    By:
    • Seidel, Kay;
    • Küsters, Benno;
    • Dunnen, Wilfred F. A.;
    • Bouzrou, Mohamed;
    • Hageman, Gerard;
    • Korf, Horst‐Werner;
    • Schelhaas, Helenius Jurgen;
    • Verbeek, Dineke;
    • Rüb, Udo
    Publication type:
    Article
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    A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6.

    Published in:
    Journal of Neuromuscular Diseases, 2024, v. 11, n. 6, p. 1300, doi. 10.3233/JND-230196
    By:
    • van Kleef, Esmee S.B.;
    • Bouman, Karlijn;
    • Molenaar, Joery P.F.;
    • de Winter, Josine M.;
    • Duijkers, Floor A.M.;
    • Eftimov, Filip;
    • Verschuuren-Bemelmans, Corien C.;
    • van der Laan, Tineke;
    • Küsters, Benno;
    • Malfatti, Edoardo;
    • Kamsteeg, Erik-Jan;
    • van Engelen, Baziel G.M.;
    • Ottenheijm, Coen A.C.;
    • Doorduin, Jonne;
    • Voermans, Nicol C.
    Publication type:
    Article
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    Oligodendrocyte dysfunction in the pathogenesis of amyotrophic lateral sclerosis.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. 471, doi. 10.1093/brain/aws339
    By:
    • Philips, Thomas;
    • Bento-Abreu, Andre;
    • Nonneman, Annelies;
    • Haeck, Wanda;
    • Staats, Kim;
    • Geelen, Veerle;
    • Hersmus, Nicole;
    • Küsters, Benno;
    • Van Den Bosch, Ludo;
    • Van Damme, Philip;
    • Richardson, William D.;
    • Robberecht, Wim
    Publication type:
    Article
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    Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.

    Published in:
    Annals of Neurology, 2012, v. 72, n. 6, p. 870, doi. 10.1002/ana.23700
    By:
    • Duarri, Anna;
    • Jezierska, Justyna;
    • Fokkens, Michiel;
    • Meijer, Michel;
    • Schelhaas, Helenius J.;
    • den Dunnen, Wilfred F. A.;
    • van Dijk, Freerk;
    • Verschuuren-Bemelmans, Corien;
    • Hageman, Gerard;
    • van de Vlies, Pieter;
    • Küsters, Benno;
    • van de Warrenburg, Bart P.;
    • Kremer, Berry;
    • Wijmenga, Cisca;
    • Sinke, Richard J.;
    • Swertz, Morris A.;
    • Kampinga, Harm H.;
    • Boddeke, Erik;
    • Verbeek, Dineke S.
    Publication type:
    Article
    31

    Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.

    Published in:
    2021
    By:
    • Bouman, Karlijn;
    • Groothuis, Jan T.;
    • Doorduin, Jonne;
    • van Alfen, Nens;
    • Udink ten Cate, Floris E. A.;
    • van den Heuvel, Frederik M. A.;
    • Nijveldt, Robin;
    • van Tilburg, Willem C. M.;
    • Buckens, Stan C. F. M.;
    • Dittrich, Anne T. M.;
    • Draaisma, Jos M. T.;
    • Janssen, Mirian C. H.;
    • Kamsteeg, Erik-Jan;
    • van Kleef, Esmee S. B.;
    • Koene, Saskia;
    • Smeitink, Jan A. M.;
    • Küsters, Benno;
    • van Tienen, Florence H. J.;
    • Smeets, Hubert J. M.;
    • van Engelen, Baziel G. M.
    Publication type:
    journal article
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    Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors.

    Published in:
    Journal of Pathology, 2021, v. 255, n. 2, p. 202, doi. 10.1002/path.5755
    By:
    • Sabatella, Mariangela;
    • Mantere, Tuomo;
    • Waanders, Esmé;
    • Neveling, Kornelia;
    • Mensenkamp, Arjen R;
    • van Dijk, Freerk;
    • Hehir‐Kwa, Jayne Y;
    • Derks, Ronnie;
    • Kwint, Michael;
    • O'Gorman, Luke;
    • Tropa Martins, Madalena;
    • Gidding, Corrie EM;
    • Lequin, Maarten H;
    • Küsters, Benno;
    • Wesseling, Pieter;
    • Nelen, Marcel;
    • Biegel, Jacklyn A;
    • Hoischen, Alexander;
    • Jongmans, Marjolijn C;
    • Kuiper, Roland P
    Publication type:
    Article