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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    High‐Throughput Immunoassays for Cavin‐4 IgG: A Diagnostic Tool for Immune‐Mediated Rippling Muscle Disease.

    Published in:
    Annals of Clinical & Translational Neurology, 2025, v. 12, n. 4, p. 876, doi. 10.1002/acn3.70012
    By:
    • LaFrance‐Corey, Reghann G.;
    • Kherbek, Haidara;
    • Harinesan, Nimalan;
    • Milone, Margherita;
    • Paramasivan, Naveen K.;
    • Sarker, Pallab;
    • Knight, Andrew M.;
    • Karsten, Carley;
    • Dasari, Surendra;
    • Liewluck, Teerin;
    • Litchy, William J.;
    • Pittock, Sean J.;
    • Mills, John R.;
    • Dubey, Divyanshu
    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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    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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    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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    Simple and efficient differentiation of human iPSCs into contractible skeletal muscles for muscular disease modeling.

    Published in:
    Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-34445-9
    By:
    • Rashid, Muhammad Irfanur;
    • Ito, Takuji;
    • Miya, Fuyuki;
    • Shimojo, Daisuke;
    • Arimoto, Kanae;
    • Onodera, Kazunari;
    • Okada, Rina;
    • Nagashima, Takunori;
    • Yamamoto, Kazuki;
    • Khatun, Zohora;
    • Shimul, Rayhanul Islam;
    • Niwa, Jun-ichi;
    • Katsuno, Masahisa;
    • Sobue, Gen;
    • Okano, Hideyuki;
    • Sakurai, Hidetoshi;
    • Shimizu, Kazunori;
    • Doyu, Manabu;
    • Okada, Yohei
    Publication type:
    Article