Works matching Muscle diseases


Results: 5000
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    A recurrent homozygous missense DPM3 variant leads to muscle and brain disease.

    Published in:
    Clinical Genetics, 2022, v. 102, n. 6, p. 530, doi. 10.1111/cge.14208
    By:
    • Nagy, Sara;
    • Lau, Tracy;
    • Alavi, Shahryar;
    • Karimiani, Ehsan Ghayoor;
    • Vallian, Jalal;
    • Ng, Bobby G.;
    • Noroozi Asl, Samaneh;
    • Akhondian, Javad;
    • Bahreini, Amir;
    • Yaghini, Omid;
    • Uapinyoying, Prech;
    • Bonnemann, Carsten;
    • Freeze, Hudson H.;
    • Dissanayake, Vajira H. W.;
    • Sirisena, Nirmala D.;
    • Schmidts, Miriam;
    • Houlden, Henry;
    • Moreno‐De‐Luca, Andres;
    • Maroofian, Reza
    Publication type:
    Article
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    A multicentre postal survey investigating the contribution of illness perceptions, coping and optimism to quality of life and mood in adults with muscle disease.

    Published in:
    Clinical Rehabilitation, 2014, v. 28, n. 5, p. 508, doi. 10.1177/0269215513511340
    By:
    • Graham, Christopher D;
    • Weinman, John;
    • Sadjadi, Reza;
    • Chalder, Trudie;
    • Petty, Richard;
    • Hanna, Mike G;
    • Turner, Chris;
    • Parton, Matt;
    • Maddison, Paul;
    • Radunovic, Aleksandar;
    • Longman, Cheryl;
    • Robb, Yvonne;
    • Bushby, Kate;
    • Hilton-Jones, David;
    • Rose, Michael R
    Publication type:
    Article
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    Images of a case with rippling muscle disease.

    Published in:
    Neurology & Clinical Neuroscience, 2019, v. 7, n. 2, p. 99, doi. 10.1111/ncn3.12261
    By:
    • Maki, Takakuni;
    • Matsumoto, Riki;
    • Kohara, Nobuo;
    • Takahashi, Ryosuke
    Publication type:
    Article
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    The Role of Autophagy in Skeletal Muscle Diseases.

    Published in:
    Frontiers in Physiology, 2021, v. 11, p. N.PAG, doi. 10.3389/fphys.2021.638983
    By:
    • Xia, Qianghua;
    • Huang, Xubo;
    • Huang, Jieru;
    • Zheng, Yongfeng;
    • March, Michael E.;
    • Li, Jin;
    • Wei, Yongjie
    Publication type:
    Article
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    Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset.

    Published in:
    eLife, 2023, p. 1, doi. 10.7554/eLife.81966
    By:
    • Mansur, Arian;
    • Joseph, Remi;
    • Kim, Euri S.;
    • Jean-Beltran, Pierre M.;
    • Udeshi, Namrata D.;
    • Pearce, Cadence;
    • Hanjie Jiang;
    • Iwase, Reina;
    • Milev, Miroslav P.;
    • Almousa, Hashem A.;
    • McNamara, Elyshia;
    • Widrick, Jeffrey;
    • Perez, Claudio;
    • Ravenscroft, Gianina;
    • Sacher, Michael;
    • Cole, Philip A.;
    • Carr, Steven A.;
    • Gupta, Vandana A.
    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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    Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.

    Published in:
    Science Translational Medicine, 2024, v. 16, n. 741, p. 1, doi. 10.1126/scitranslmed.adg2841
    By:
    • Donkervoort, Sandra;
    • van de Locht, Martijn;
    • Ronchi, Dario;
    • Reunert, Janine;
    • McLean, Catriona A.;
    • Zaki, Maha;
    • Orbach, Rotem;
    • de Winter, Josine M.;
    • Conijn, Stefan;
    • Hoomoedt, Daan;
    • Neto, Osorio Lopes Abath;
    • Magri, Francesca;
    • Viaene, Angela N.;
    • Foley, A. Reghan;
    • Gorokhova, Svetlana;
    • Bolduc, Véronique;
    • Hu, Ying;
    • Acquaye, Nicole;
    • Napoli, Laura;
    • Park, Julien H.
    Publication type:
    Article