Works matching Nemaline myopathy

Results: 968
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    Nemaline myopathy in a six-month-old Pomeranian dog.

    Published in:
    Journal of the South African Veterinary Association, 2022, v. 93, n. 1, p. 43, doi. 10.36303/JSAVA.2022.93.1.498
    By:
    • Bester, E. G.;
    • Kitshoff, A. M.;
    • Botha, W. J.;
    • van Wilpe, E.;
    • du Plessis, L.;
    • Williams, J.
    Publication type:
    Article
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    Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy.

    Published in:
    Neurological Sciences, 2024, v. 45, n. 3, p. 1225, doi. 10.1007/s10072-023-07128-6
    By:
    • Nóbrega, Paulo Ribeiro;
    • de Brito de Souza, Jorge Luiz;
    • Maurício, Rebeca Bessa;
    • de Paiva, Anderson Rodrigues Brandão;
    • Dias, Daniel Aguiar;
    • Camelo, Clara Gontijo;
    • Zanotelli, Edmar;
    • Schlesinger, David;
    • Braga-Neto, Pedro;
    • Moreno, Cristiane Araujo Martins
    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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    Nemaline myopathies: a current view.

    Published in:
    Journal of Muscle Research & Cell Motility, 2019, v. 40, n. 2, p. 111, doi. 10.1007/s10974-019-09519-9
    By:
    • Sewry, Caroline A.;
    • Laitila, Jenni M.;
    • Wallgren-Pettersson, Carina
    Publication type:
    Article
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    Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases.

    Published in:
    2017
    By:
    • Schnitzler, Lukas J.;
    • Schreckenbach, Tobias;
    • Nadaj-Pakleza, Aleksandra;
    • Stenzel, Werner;
    • Rushing, Elisabeth J.;
    • Van Damme, Philip;
    • Ferbert, Andreas;
    • Petri, Susanne;
    • Hartmann, Christian;
    • Bornemann, Antje;
    • Meisel, Andreas;
    • Petersen, Jens A.;
    • Tousseyn, Thomas;
    • Thal, Dietmar R.;
    • Reimann, Jens;
    • De Jonghe, Peter;
    • Martin, Jean-Jacques;
    • Van den Bergh, Peter Y.;
    • Schulz, Jörg B.;
    • Weis, Joachim
    Publication type:
    journal article
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    K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. 494, doi. 10.1093/brain/aws348
    By:
    • Mokbel, Nancy;
    • Ilkovski, Biljana;
    • Kreissl, Michaela;
    • Memo, Massimiliano;
    • Jeffries, Cy M.;
    • Marttila, Minttu;
    • Lehtokari, Vilma-Lotta;
    • Lemola, Elina;
    • Grönholm, Mikaela;
    • Yang, Nan;
    • Menard, Dominique;
    • Marcorelles, Pascale;
    • Echaniz-Laguna, Andoni;
    • Reimann, Jens;
    • Vainzof, Mariz;
    • Monnier, Nicole;
    • Ravenscroft, Gianina;
    • McNamara, Elyshia;
    • Nowak, Kristen J.;
    • Laing, Nigel G.
    Publication type:
    Article
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    NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy.

    Published in:
    Acta Neuropathologica Communications, 2022, p. 1, doi. 10.1186/s40478-022-01491-9
    By:
    • Ranu, Natasha;
    • Laitila, Jenni;
    • Dugdale, Hannah F.;
    • Mariano, Jennifer;
    • Kolb, Justin S.;
    • Wallgren-Pettersson, Carina;
    • Witting, Nanna;
    • Vissing, John;
    • Vilchez, Juan Jesus;
    • Fiorillo, Chiara;
    • Zanoteli, Edmar;
    • Auranen, Mari;
    • Jokela, Manu;
    • Tasca, Giorgio;
    • Claeys, Kristl G.;
    • Voermans, Nicol C.;
    • Palmio, Johanna;
    • Huovinen, Sanna;
    • Moggio, Maurizio;
    • Beck, Thomas Nyegaard
    Publication type:
    Article
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    Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb.

    Published in:
    Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-0893-1
    By:
    • Laitila, Jenni M.;
    • McNamara, Elyshia L.;
    • Wingate, Catherine D.;
    • Goullee, Hayley;
    • Ross, Jacob A.;
    • Taylor, Rhonda L.;
    • van der Pijl, Robbert;
    • Griffiths, Lisa M.;
    • Harries, Rachel;
    • Ravenscroft, Gianina;
    • Clayton, Joshua S.;
    • Sewry, Caroline;
    • Lawlor, Michael W.;
    • Ottenheijm, Coen A. C.;
    • Bakker, Anthony J.;
    • Ochala, Julien;
    • Laing, Nigel G.;
    • Wallgren-Pettersson, Carina;
    • Pelin, Katarina;
    • Nowak, Kristen J.
    Publication type:
    Article
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    Nemaline myopathy and heart failure: role of ivabradine; a case report.

    Published in:
    BMC Cardiovascular Disorders, 2015, v. 15, n. 1, p. 1, doi. 10.1186/1471-2261-15-5
    By:
    • Sarullo, Filippo M.;
    • Vitale, Giuseppe;
    • Franco, Antonino Di;
    • Sarullo, Silvia;
    • Salerno, Ylenia;
    • Vassallo, Laura;
    • Baviera, Emanuela Petrona;
    • Marazia, Stefania;
    • Mandalà, Giorgio;
    • Lanza, Gaetano A.
    Publication type:
    Article
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    Nemaline myopathy and heart failure: role of ivabradine; a case report.

    Published in:
    BMC Cardiovascular Disorders, 2015, v. 15, n. 1, p. 1, doi. 10.1186/1471-2261-15-5
    By:
    • Sarullo, Filippo M.;
    • Vitale, Giuseppe;
    • Di Franco, Antonino;
    • Sarullo, Silvia;
    • Salerno, Ylenia;
    • Vassallo, Laura;
    • Baviera, Emanuela Petrona;
    • Marazia, Stefania;
    • Mandalà, Giorgio;
    • Lanza, Gaetano A.
    Publication type:
    Article
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    Iron Accumulation and Lipid Peroxidation in Cellular Models of Nemaline Myopathies.

    Published in:
    International Journal of Molecular Sciences, 2025, v. 26, n. 4, p. 1434, doi. 10.3390/ijms26041434
    By:
    • López-Cabrera, Alejandra;
    • Piñero-Pérez, Rocío;
    • Álvarez-Córdoba, Mónica;
    • Cilleros-Holgado, Paula;
    • Gómez-Fernández, David;
    • Reche-López, Diana;
    • Romero-González, Ana;
    • Romero-Domínguez, José Manuel;
    • de la Mata, Mario;
    • de Pablos, Rocío M.;
    • González-Granero, Susana;
    • García-Verdugo, José Manuel;
    • Sánchez-Alcázar, José A.
    Publication type:
    Article
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    Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.

    Published in:
    International Journal of Molecular Sciences, 2022, v. 23, n. 19, p. 11995, doi. 10.3390/ijms231911995
    By:
    • Gurgel-Giannetti, Juliana;
    • Souza, Lucas Santos;
    • Yamamoto, Guilherme L.;
    • Belisario, Marina;
    • Lazar, Monize;
    • Campos, Wilson;
    • Pavanello, Rita de Cassia M.;
    • Zatz, Mayana;
    • Reed, Umbertina;
    • Zanoteli, Edmar;
    • Oliveira, Acary Bulle;
    • Lehtokari, Vilma-Lotta;
    • Casella, Erasmo B.;
    • Machado-Costa, Marcela C.;
    • Wallgren-Pettersson, Carina;
    • Laing, Nigel G.;
    • Nigro, Vincenzo;
    • Vainzof, Mariz
    Publication type:
    Article
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    Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy.

    Published in:
    Acta Neuropathologica, 2019, v. 138, n. 3, p. 477, doi. 10.1007/s00401-019-02034-8
    By:
    • Ross, Jacob A.;
    • Levy, Yotam;
    • Ripolone, Michela;
    • Kolb, Justin S.;
    • Turmaine, Mark;
    • Holt, Mark;
    • Lindqvist, Johan;
    • Claeys, Kristl G.;
    • Weis, Joachim;
    • Monforte, Mauro;
    • Tasca, Giorgio;
    • Moggio, Maurizio;
    • Figeac, Nicolas;
    • Zammit, Peter S.;
    • Jungbluth, Heinz;
    • Fiorillo, Chiara;
    • Vissing, John;
    • Witting, Nanna;
    • Granzier, Henk;
    • Zanoteli, Edmar
    Publication type:
    Article
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    Actin Polymerization Defects Induce Mitochondrial Dysfunction in Cellular Models of Nemaline Myopathies.

    Published in:
    Antioxidants, 2023, v. 12, n. 12, p. 2023, doi. 10.3390/antiox12122023
    By:
    • Piñero-Pérez, Rocío;
    • López-Cabrera, Alejandra;
    • Álvarez-Córdoba, Mónica;
    • Cilleros-Holgado, Paula;
    • Talaverón-Rey, Marta;
    • Suárez-Carrillo, Alejandra;
    • Munuera-Cabeza, Manuel;
    • Gómez-Fernández, David;
    • Reche-López, Diana;
    • Romero-González, Ana;
    • Romero-Domínguez, José Manuel;
    • de Pablos, Rocío M.;
    • Sánchez-Alcázar, José A.
    Publication type:
    Article
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