Works by Schoser, Benedikt

Results: 169
    1

    Successful treatment with azacitidine in VEXAS syndrome with prominent myofasciitis.

    Published in:
    Rheumatology, 2022, v. 61, n. 5, p. e117, doi. 10.1093/rheumatology/keab866
    By:
    • Cordts, Isabell;
    • Hecker, Judith S;
    • Gauck, Darja;
    • Park, Joohyun;
    • Härtl, Johanna;
    • Günthner, Roman;
    • Hammitzsch, Ariane;
    • Schoser, Benedikt;
    • Abeck, Dietrich;
    • Götze, Katharina S;
    • Haack, Tobias B;
    • Deschauer, Marcus;
    • Moog, Philipp;
    • Hemmer, Bernhard
    Publication type:
    Article
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    Increased ectodysplasin-A2-receptor EDA2R is a ubiquitous hallmark of aging and mediates parainflammatory responses.

    Published in:
    Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-56918-3
    By:
    • Barbera, Maria Chiara;
    • Guarrera, Luca;
    • Re Cecconi, Andrea David;
    • Cassanmagnago, Giada Andrea;
    • Vallerga, Arianna;
    • Lunardi, Martina;
    • Checchi, Francesca;
    • Di Rito, Laura;
    • Romeo, Margherita;
    • Mapelli, Sarah Natalia;
    • Schoser, Benedikt;
    • Generozov, Edward V.;
    • Sultanov, Rinat I.;
    • Kanygina, Alexandra;
    • Kulemin, Nikolay A.;
    • Semenova, Ekaterina A.;
    • Jansen, Rick;
    • de Geus, Eco J. C.;
    • Penninx, Brenda;
    • van Dongen, Jenny
    Publication type:
    Article
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    Transplantation of Genetically Corrected Human iPSC-Derived Progenitors in Mice with Limb-Girdle Muscular Dystrophy.

    Published in:
    Science Translational Medicine, 2012, v. 4, n. 140, p. 1, doi. 10.1126/scitranslmed.3003541
    By:
    • Tedesco, Francesco Saverio;
    • Gerli, Mattia F. M.;
    • Perani, Laura;
    • Benedetti, Sara;
    • Ungaro, Federica;
    • Cassano, Marco;
    • Antonini, Stefania;
    • Tagliafico, Enrico;
    • Artusi, Valentina;
    • Longa, Emanuela;
    • Tonlorenzi, Rossana;
    • Ragazzi, Martina;
    • Calderazzi, Giorgia;
    • Hoshiya, Hidetoshi;
    • Cappellari, Ornella;
    • Mora, Marina;
    • Schoser, Benedikt;
    • Schneiderat, Peter;
    • Oshimura, Mitsuo;
    • Bottinelli, Roberto
    Publication type:
    Article
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    Rippling Muscle Disease in Childhood.

    Published in:
    Journal of Child Neurology, 2002, v. 17, n. 7, p. 483, doi. 10.1177/088307380201700703
    By:
    • Schara, Ulrike;
    • Vorgerd, Matthias;
    • Popovic, Nikola;
    • Schoser, Benedikt G.H.;
    • Ricker, Kenneth;
    • Mortier, Wilhelm
    Publication type:
    Article
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    Beyond mean value analysis – a voxel‐based analysis of the quantitative MR biomarker water T<sub>2</sub> in the presence of fatty infiltration in skeletal muscle tissue of patients with neuromuscular diseases.

    Published in:
    NMR in Biomedicine, 2022, v. 35, n. 12, p. 1, doi. 10.1002/nbm.4805
    By:
    • Schlaeger, Sarah;
    • Weidlich, Dominik;
    • Zoffl, Agnes;
    • Becherucci, Edoardo Aitala;
    • Kottmaier, Elisabeth;
    • Montagnese, Federica;
    • Deschauer, Marcus;
    • Schoser, Benedikt;
    • Zimmer, Claus;
    • Baum, Thomas;
    • Karampinos, Dimitrios C.;
    • Kirschke, Jan S.
    Publication type:
    Article
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    A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.

    Published in:
    Movement Disorders, 2012, v. 27, n. 6, p. 789, doi. 10.1002/mds.24980
    By:
    • Horvath, Rita;
    • Holinski-Feder, Elke;
    • Neeve, Vivienne C.M.;
    • Pyle, Angela;
    • Griffin, Helen;
    • Ashok, Deephthi;
    • Foley, Charlotte;
    • Hudson, Gavin;
    • Rautenstrauss PhD, Bernd;
    • Nürnberg, Gudrun;
    • Nürnberg, Peter;
    • Kortler, Jörg;
    • Neitzel, Birgit;
    • Bäßmann, Ingelore;
    • Rahman, Thahira;
    • Keavney, Bernard;
    • Loughlin, John;
    • Hambleton, Sophie;
    • Schoser, Benedikt;
    • Lochmüller, Hanns
    Publication type:
    Article
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    Differential expression and localization of Ankrd2 isoforms in human skeletal and cardiac muscles.

    Published in:
    Histochemistry & Cell Biology, 2016, v. 146, n. 5, p. 569, doi. 10.1007/s00418-016-1465-0
    By:
    • Jasnic-Savovic, Jovana;
    • Krause, Sabine;
    • Savic, Slobodan;
    • Kojic, Ana;
    • Kovcic, Vlado;
    • Boskovic, Srdjan;
    • Nestorovic, Aleksandra;
    • Rakicevic, Ljiljana;
    • Schreiber-Katz, Olivia;
    • Vogel, Johannes;
    • Schoser, Benedikt;
    • Walter, Maggie;
    • Valle, Giorgio;
    • Radojkovic, Dragica;
    • Faulkner, Georgine;
    • Kojic, Snezana
    Publication type:
    Article
    14

    TMBIM5 loss of function alters mitochondrial matrix ion homeostasis and causes a skeletal myopathy.

    Published in:
    Life Science Alliance, 2022, v. 5, n. 10, p. 1, doi. 10.26508/lsa.202201478
    By:
    • Li Zhang;
    • Dietsche, Felicia;
    • Seitaj, Bruno;
    • Rojas-Charry, Liliana;
    • Latchman, Nadina;
    • Tomar, Dhanendra;
    • Wüst, Rob C. I.;
    • Nickel, Alexander;
    • Frauenknecht, Katrin B. M.;
    • Schoser, Benedikt;
    • Schumann, Sven;
    • Schmeisser, Michael J.;
    • vom Berg, Johannes;
    • Buch, Thorsten;
    • Finger, Stefanie;
    • Wenzel, Philip;
    • Maack, Christoph;
    • Elrod, John W.;
    • Parys, Jan B.;
    • Bultynck, Geert
    Publication type:
    Article
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    FYCO1 Increase and Effect of Arimoclomol–Treatment in Human VCP –Pathology.

    Published in:
    Biomedicines, 2022, v. 10, n. 10, p. N.PAG, doi. 10.3390/biomedicines10102443
    By:
    • Guettsches, Anne-Katrin;
    • Meyer, Nancy;
    • Zahedi, René P.;
    • Evangelista, Teresinha;
    • Muentefering, Thomas;
    • Ruck, Tobias;
    • Lacene, Emmanuelle;
    • Heute, Christoph;
    • Gonczarowska-Jorge, Humberto;
    • Schoser, Benedikt;
    • Krause, Sabine;
    • Hentschel, Andreas;
    • Vorgerd, Matthias;
    • Roos, Andreas
    Publication type:
    Article
    19

    Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28.

    Published in:
    JAMA Neurology, 2015, v. 72, n. 1, p. 106, doi. 10.1001/jamaneurol.2014.1753
    By:
    • Gorman, Gráinne S.;
    • Pfeffer, Gerald;
    • Griffin, Helen;
    • Blakely, Emma L.;
    • Kurzawa-Akanbi, Marzena;
    • Gabriel, Jessica;
    • Sitarz, Kamil;
    • Roberts, Mark;
    • Schoser, Benedikt;
    • Pyle, Angela;
    • Schaefer, Andrew M.;
    • McFarland, Robert;
    • Turnbull, Douglass M.;
    • Horvath, Rita;
    • Chinnery, Patrick F.;
    • Taylor, Robert W.
    Publication type:
    Article
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    Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.

    Published in:
    Nature Genetics, 2001, v. 28, n. 3, p. 218, doi. 10.1038/90050
    By:
    • Betz, Regina C.;
    • Schoser, Benedikt G. H.;
    • Kasper, Dagmar;
    • Ricker, Kenneth;
    • Ramírez, Alfredo;
    • Stein, Valentin;
    • Torbergsen, Torberg;
    • Lee, Young-Ae;
    • Nöthen, Markus M.;
    • Wienker, Thomas F.;
    • Malin, Jean-Pierre;
    • Propping, Peter;
    • Reis, André;
    • Mortier, Wilhelm;
    • Jentsch, Thomas J.;
    • Vorgerd, Matthias;
    • Kubisch, Christian
    Publication type:
    Article
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    Correction: Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02)

    Published in:
    2025
    By:
    • Byrne, Barry J.;
    • Schoser, Benedikt;
    • Kishnani, Priya S.;
    • Bratkovic, Drago;
    • Clemens, Paula R.;
    • Goker-Alpan, Ozlem;
    • Ming, Xue;
    • Roberts, Mark;
    • Vorgerd, Matthias;
    • Sivakumar, Kumaraswamy;
    • van der Ploeg, Ans T.;
    • Goldman, Mitchell;
    • Wright, Jacquelyn;
    • Holdbrook, Fred;
    • Jain, Vipul;
    • Benjamin, Elfrida R.;
    • Johnson, Franklin;
    • Das, Sheela Sitaraman;
    • Wasfi, Yasmine;
    • Mozaffar, Tahseen
    Publication type:
    Correction Notice
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    104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07).

    Published in:
    Journal of Neurology, 2024, v. 271, n. 5, p. 2810, doi. 10.1007/s00415-024-12236-0
    By:
    • Schoser, Benedikt;
    • Kishnani, Priya S.;
    • Bratkovic, Drago;
    • Byrne, Barry J.;
    • Claeys, Kristl G.;
    • Díaz-Manera, Jordi;
    • Laforêt, Pascal;
    • Roberts, Mark;
    • Toscano, Antonio;
    • van der Ploeg, Ans T.;
    • Castelli, Jeff;
    • Goldman, Mitchell;
    • Holdbrook, Fred;
    • Sitaraman Das, Sheela;
    • Wasfi, Yasmine;
    • Mozaffar, Tahseen;
    • Sebok, Agnes;
    • Pestronk, Alan;
    • Dominovic-Kovacevic, Aleksandra;
    • Khan, Aneal
    Publication type:
    Article
    42

    Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02).

    Published in:
    Journal of Neurology, 2024, v. 271, n. 4, p. 1787, doi. 10.1007/s00415-023-12096-0
    By:
    • Byrne, Barry J.;
    • Schoser, Benedikt;
    • Kishnani, Priya S.;
    • Bratkovic, Drago;
    • Clemens, Paula R.;
    • Goker-Alpan, Ozlem;
    • Ming, Xue;
    • Roberts, Mark;
    • Vorgerd, Matthias;
    • Sivakumar, Kumaraswamy;
    • van der Ploeg, Ans T.;
    • Goldman, Mitchell;
    • Wright, Jacquelyn;
    • Holdbrook, Fred;
    • Jain, Vipul;
    • Benjamin, Elfrida R.;
    • Johnson, Franklin;
    • Das, Sheela Sitaraman;
    • Wasfi, Yasmine;
    • Mozaffar, Tahseen
    Publication type:
    Article
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    Morphological and molecular comparison of HIV-associated and sporadic inclusion body myositis.

    Published in:
    Journal of Neurology, 2023, v. 270, n. 9, p. 4434, doi. 10.1007/s00415-023-11779-y
    By:
    • Vogt, Sinja;
    • Kleefeld, Felix;
    • Preusse, Corinna;
    • Arendt, Gabriele;
    • Bieneck, Stefan;
    • Brunn, Anna;
    • Deckert, Martina;
    • Englert, Benjamin;
    • Goebel, Hans-Hilmar;
    • Masuhr, Anja;
    • Neuen-Jacob, Eva;
    • Kornblum, Cornelia;
    • Reimann, Jens;
    • Montagnese, Federica;
    • Schoser, Benedikt;
    • Stenzel, Werner;
    • Hahn, Katrin
    Publication type:
    Article
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    STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa.

    Published in:
    Journal of Neurology, 2021, v. 268, n. 7, p. 2482, doi. 10.1007/s00415-021-10409-9
    By:
    • Gutschmidt, Kristina;
    • Musumeci, Olimpia;
    • Díaz-Manera, Jordi;
    • Chien, Yin-Hsiu;
    • Knop, Karl Christian;
    • Wenninger, Stephan;
    • Montagnese, Federica;
    • Pugliese, Alessia;
    • Tavilla, Graziana;
    • Alonso-Pérez, Jorge;
    • Hwu, Paul Wuh-Liang;
    • Toscano, Antonio;
    • Schoser, Benedikt
    Publication type:
    Article
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