Works about NEMALINE myopathy


Results: 733
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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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    Atypical phenotype of a patient with Bardet–Biedl syndrome type 4.

    Published in:
    Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 5, p. 1, doi. 10.1002/mgg3.1869
    By:
    • Sloboda, Natacha;
    • Lambert, Laetitia;
    • Ciorna, Viorica;
    • Bruel, Ange‐Line;
    • Tran Mau‐Them, Frédéric;
    • Gomola, Vladimir;
    • Lemelle, Jean‐Louis;
    • Klein, Olivier;
    • Camoin‐Schweitzer, Marie‐Christine;
    • Magnavacca, Marie;
    • Legagneur, Carole;
    • Ezsto, Marie‐Laure;
    • Bonnet, Céline;
    • Philippe, Christophe;
    • Leheup, Bruno
    Publication type:
    Article
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    Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy.

    Published in:
    Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1460
    By:
    • Rich, Kelly A.;
    • Moscarello, Tia;
    • Siskind, Carly;
    • Brock, Guy;
    • Tan, Christopher A.;
    • Vatta, Matteo;
    • Winder, Thomas L.;
    • Elsheikh, Bakri;
    • Vicini, Leah;
    • Tucker, Brianna;
    • Palettas, Marilly;
    • Hershberger, Ray E.;
    • Kissel, John T.;
    • Morales, Ana;
    • Roggenbuck, Jennifer
    Publication type:
    Article
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    The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes.

    Published in:
    Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1229
    By:
    • Yeung, Kit San;
    • Yu, Florrie N. Y.;
    • Fung, Cheuk Wing;
    • Wong, Sheila;
    • Lee, Hencher H. C.;
    • Fung, Sharon T. H.;
    • Fung, Genevieve P. G.;
    • Leung, Kwok Yin;
    • Chung, Wai Hang;
    • Lee, Yun Ting;
    • Ng, Vivian K. S.;
    • Yu, Mullin H. C.;
    • Fung, Jasmine L. F.;
    • Tsang, Mandy H. Y.;
    • Chan, Kelvin Y. K.;
    • Chan, Sophelia H. S.;
    • Kan, Anita S. Y.;
    • Chung, Brian H. Y.
    Publication type:
    Article
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    Anti‐3‐hydroxy‐3‐methylglutaryl‐coenzyme A reductase antibody‐positive myopathy associated with advanced stage of cutaneous squamous cell carcinoma.

    Published in:
    Australasian Journal of Dermatology, 2021, v. 62, n. 3, p. e460, doi. 10.1111/ajd.13619
    By:
    • Kusutani, Nao;
    • Yamanaka‐Takaichi, Mika;
    • Yanagishita‐Nakatsuji, Saki;
    • Kadoya, Masato;
    • Hasegawa, Itsuki;
    • Tsutada, Tsuyoshi;
    • Shimizu, Jun;
    • Ohe, Shuichi;
    • Isei, Taiki;
    • Itoh, Yoshiaki;
    • Fukai, Kazuyoshi;
    • Tateishi, Chiharu;
    • Tsuruta, Daisuke
    Publication type:
    Article
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    Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.

    Published in:
    Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-54866-4
    By:
    • Lehtonen, Johanna;
    • Sulonen, Anna-Maija;
    • Almusa, Henrikki;
    • Lehtokari, Vilma-Lotta;
    • Johari, Mridul;
    • Palva, Aino;
    • Hakonen, Anna H.;
    • Wartiovaara, Kirmo;
    • Lehesjoki, Anna-Elina;
    • Udd, Bjarne;
    • Wallgren-Pettersson, Carina;
    • Pelin, Katarina;
    • Savarese, Marco;
    • Saarela, Janna
    Publication type:
    Article
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    Human levator veli palatini muscle: a novel source of mesenchymal stromal cells for use in the rehabilitation of patients with congenital craniofacial malformations.

    Published in:
    Stem Cell Research & Therapy, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13287-020-02017-7
    By:
    • Bueno, Daniela Franco;
    • Kabayashi, Gerson Shigueru;
    • Pinheiro, Carla Cristina Gomes;
    • Tanikawa, Daniela Y. S.;
    • Raposo-Amaral, Cassio Eduardo;
    • Rocha, Diogenes Laercio;
    • Ferreira, José Ricardo Muniz;
    • Shibuya, Yoichiro;
    • Hokugo, Akishige;
    • Jarrahy, Reza;
    • ZuK, Patricia A.;
    • Passos-Bueno, Maria Rita
    Publication type:
    Article
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    Consensus Statement on Standard of Care for Congenital Myopathies.

    Published in:
    Journal of Child Neurology, 2012, v. 27, n. 3, p. 363, doi. 10.1177/0883073812436605
    By:
    • Wang, Ching H.;
    • Dowling, James J.;
    • North, Kathryn;
    • Schroth, Mary K.;
    • Sejersen, Thomas;
    • Shapiro, Frederic;
    • Bellini, Jonathan;
    • Weiss, Hali;
    • Guillet, Marc;
    • Amburgey, Kimberly;
    • Apkon, Susan;
    • Bertini, Enrico;
    • Bonnemann, Carsten;
    • Clarke, Nigel;
    • Connolly, Anne M.;
    • Estournet-Mathiaud, Brigitte;
    • Fitzgerald, Dominic;
    • Florence, Julaine M.;
    • Gee, Richard;
    • Gurgel-Giannetti, Juliana
    Publication type:
    Article
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