Works matching DE "LIMB-girdle muscular dystrophy"

Results: 290
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    Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India.

    Published in:
    Global Medical Genetics, 2022, v. 9, n. 1, p. 34, doi. 10.1055/s-0041-1736567
    By:
    • Ganaraja, Valakunja H.;
    • Polavarapu, Kiran;
    • Bardhan, Mainak;
    • Preethish-Kumar, Veeramani;
    • Leena, Shingavi;
    • Anjanappa, Ram M.;
    • Vengalil, Seena;
    • Nashi, Saraswati;
    • Arunachal, Gautham;
    • Gunasekaran, Swetha;
    • Mohan, Dhaarini;
    • Raju, Sanita;
    • Unnikrishnan, Gopikrishnan;
    • Huddar, Akshata;
    • Ravi-Kiran, Valasani;
    • Thomas, Priya T.;
    • Nalini, Atchayaram
    Publication type:
    Article
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    Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy.

    Published in:
    Annals of Clinical & Translational Neurology, 2023, v. 10, n. 5, p. 686, doi. 10.1002/acn3.51760
    By:
    • Roy, Bhaskar;
    • Peck, Allison;
    • Evangelista, Teresinha;
    • Pfeffer, Gerald;
    • Wang, Leo;
    • Diaz‐Manera, Jordi;
    • Korb, Manisha;
    • Wicklund, Matthew P.;
    • Milone, Margherita;
    • Freimer, Miriam;
    • Kushlaf, Hani;
    • Villar‐Quiles, Rocio‐Nur;
    • Stojkovic, Tanya;
    • Needham, Merrilee;
    • Palmio, Johanna;
    • Lloyd, Thomas E.;
    • Keung, Benison;
    • Mozaffar, Tahseen;
    • Weihl, Conrad Chris;
    • Kimonis, Virginia
    Publication type:
    Article
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    Clinical and molecular findings in a cohort of ANO5‐related myopathy.

    Published in:
    Annals of Clinical & Translational Neurology, 2019, v. 6, n. 7, p. 1225, doi. 10.1002/acn3.50801
    By:
    • Silva, André M. S.;
    • Coimbra-Neto, Antônio R.;
    • Souza, Paulo Victor S.;
    • Winckler, Pablo B.;
    • Gonçalves, Marcus V. M.;
    • Cavalcanti, Eduardo B. U.;
    • Carvalho, Alzira A. D. S.;
    • Sobreira, Cláudia F. D. R.;
    • Camelo, Clara G.;
    • Mendonça, Rodrigo D. H.;
    • Estephan, Eduardo D. P.;
    • Reed, Umbertina C.;
    • Machado-Costa, Marcela C.;
    • Dourado-Junior, Mario E. T.;
    • Pereira, Vanessa C.;
    • Cruzeiro, Marcelo M.;
    • Helito, Paulo V. P.;
    • Aivazoglou, Laís U.;
    • Camargo, Leonardo V. D.;
    • Gomes, Hudson H.
    Publication type:
    Article
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    Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.

    Published in:
    Annals of Clinical & Translational Neurology, 2018, v. 5, n. 12, p. 1574, doi. 10.1002/acn3.649
    By:
    • Nallamilli, Babi Ramesh Reddy;
    • Chakravorty, Samya;
    • Kesari, Akanchha;
    • Tanner, Alice;
    • Ankala, Arunkanth;
    • Schneider, Thomas;
    • da Silva, Cristina;
    • Beadling, Randall;
    • Alexander, John J.;
    • Askree, Syed Hussain;
    • Whitt, Zachary;
    • Bean, Lora;
    • Collins, Christin;
    • Khadilkar, Satish;
    • Gaitonde, Pradnya;
    • Dastur, Rashna;
    • Wicklund, Matthew;
    • Mozaffar, Tahseen;
    • Harms, Matthew;
    • Rufibach, Laura
    Publication type:
    Article
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    Natural history of LGMD2A for delineating outcome measures in clinical trials.

    Published in:
    Annals of Clinical & Translational Neurology, 2016, v. 3, n. 4, p. 248, doi. 10.1002/acn3.287
    By:
    • Richard, Isabelle;
    • Hogrel, Jean‐Yves;
    • Stockholm, Daniel;
    • Payan, Christine A. M.;
    • Fougerousse, Françoise;
    • Eymard, Bruno;
    • Mignard, Claude;
    • Lopez de Munain, Adolfo;
    • Fardeau, Michel;
    • Urtizberea, Jon Andoni
    Publication type:
    Article
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    Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking.

    Published in:
    Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-022-01501-w
    By:
    • Swan, Alexander H.;
    • Schindler, Roland F. R.;
    • Savarese, Marco;
    • Mayer, Isabelle;
    • Rinné, Susanne;
    • Bleser, Felix;
    • Schänzer, Anne;
    • Hahn, Andreas;
    • Sabatelli, Mario;
    • Perna, Francesco;
    • Chapman, Kathryn;
    • Pfuhl, Mark;
    • Spivey, Alan C.;
    • Decher, Niels;
    • Udd, Bjarne;
    • Tasca, Giorgio;
    • Brand, Thomas
    Publication type:
    Article
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    Differential diagnosis of vacuolar myopathies in the NGS era.

    Published in:
    Brain Pathology, 2020, v. 30, n. 5, p. 877, doi. 10.1111/bpa.12864
    By:
    • Mair, Dorothea;
    • Biskup, Saskia;
    • Kress, Wolfram;
    • Abicht, Angela;
    • Brück, Wolfgang;
    • Zechel, Sabrina;
    • Knop, Karl Christian;
    • Koenig, Fatima Barbara;
    • Tey, Shelisa;
    • Nikolin, Stefan;
    • Eggermann, Katja;
    • Kurth, Ingo;
    • Ferbert, Andreas;
    • Weis, Joachim
    Publication type:
    Article
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    Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.

    Published in:
    BMC Neurology, 2014, v. 14, n. 1, p. 2, doi. 10.1186/s12883-014-0154-7
    By:
    • Stehlíková, Kristýna;
    • Skálová, Daniela;
    • Zídková, Jana;
    • Mrázová, Lenka;
    • Vondráček, Petr;
    • Mazanec, Radim;
    • Voháňka, Stanislav;
    • Haberlová, Jana;
    • Hermanová, Markéta;
    • Zámečník, Josef;
    • Souček, Ondřej;
    • OŠlejŠková, Hana;
    • Dvořáčková, Nina;
    • Solařová, Pavla;
    • Fajkusová, Lenka
    Publication type:
    Article
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    Phenotype variabilities of laminopathies.

    Published in:
    European Journal of Translational Myology, 2023, v. 33, n. 2, p. 37, doi. 10.4081/ejtm.2023.11427
    By:
    • Siciliano, Gabriele;
    • Vadi, Gabriele;
    • Torri, Francesca;
    • Rende, Mariaconcetta;
    • Lattanzi, Giovanna;
    • Ricci, Giulia
    Publication type:
    Article
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    Clinical, histological, and genetic characterization of PYROXD1-related myopathy.

    Published in:
    Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0781-8
    By:
    • Lornage, Xavière;
    • Schartner, Vanessa;
    • Balbueno, Inès;
    • Biancalana, Valérie;
    • Willis, Tracey;
    • Echaniz-Laguna, Andoni;
    • Scheidecker, Sophie;
    • Quinlivan, Ros;
    • Fardeau, Michel;
    • Malfatti, Edoardo;
    • Lannes, Béatrice;
    • Sewry, Caroline;
    • Romero, Norma B.;
    • Laporte, Jocelyn;
    • Böhm, Johann
    Publication type:
    Article
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