Works matching DE "LIMB-girdle muscular dystrophy"

Results: 283
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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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    Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma.

    Published in:
    Genes, 2024, v. 15, n. 9, p. 1144, doi. 10.3390/genes15091144
    By:
    • Taneva, Ani;
    • Gresham, David;
    • Guergueltcheva, Velina;
    • Chamova, Teodora;
    • Bojinova, Veneta;
    • Gospodinova, Mariana;
    • Katzarova, Maria;
    • Petkov, Radoslav;
    • Voit, Thomas;
    • Aneva, Lidia;
    • Asenov, Ognyan;
    • Georgieva, Bilyana;
    • Mihaylova, Violeta;
    • Bichev, Stoyan;
    • Todorov, Tihomir;
    • Todorova, Albena;
    • Kalaydjieva, Luba;
    • Tournev, Ivailo
    Publication type:
    Article
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    SGCD Missense Variant in a Lagotto Romagnolo Dog with Autosomal Recessively Inherited Limb-Girdle Muscular Dystrophy.

    Published in:
    2023
    By:
    • Brunetti, Barbara;
    • Bacci, Barbara;
    • Abbate, Jessica Maria;
    • Tura, Giorgia;
    • Paciello, Orlando;
    • Vaccaro, Emanuela;
    • Prisco, Francesco;
    • Gandini, Gualtiero;
    • Okonji, Samuel;
    • Paola, Andrea di;
    • Letko, Anna;
    • Drögemüller, Cord;
    • Jagannathan, Vidhya;
    • Turba, Maria Elena;
    • Ogundipe, Tolulope Grace;
    • Lorenzini, Luca;
    • Rosati, Marco;
    • Psalla, Dimitra;
    • Leeb, Tosso;
    • Drögemüller, Michaela
    Publication type:
    Case Study
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    An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.

    Published in:
    Genes, 2021, v. 12, n. 8, p. 1199, doi. 10.3390/genes12081199
    By:
    • Juntas Morales, Raul;
    • Perrin, Aurélien;
    • Solé, Guilhem;
    • Lacourt, Delphine;
    • Pegeot, Henri;
    • Walther-Louvier, Ulrike;
    • Cintas, Pascal;
    • Cances, Claude;
    • Espil, Caroline;
    • Theze, Corinne;
    • Zenagui, Reda;
    • Yauy, Kevin;
    • Cosset, Elodie;
    • Renard, Dimitri;
    • Rigau, Valerie;
    • Maues de Paula, Andre;
    • Uro-Coste, Emmanuelle;
    • Arne-Bes, Marie-Christine;
    • Martin Négrier, Marie-Laure;
    • Leboucq, Nicolas
    Publication type:
    Article
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    Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing.

    Published in:
    Genes, 2019, v. 10, n. 11, p. 856, doi. 10.3390/genes10110856
    By:
    • Alcántara-Ortigoza, Miguel Angel;
    • Reyna-Fabián, Miriam Erandi;
    • González-del Angel, Ariadna;
    • Estandia-Ortega, Bernardette;
    • Bermúdez-López, Cesárea;
    • Cruz-Miranda, Gabriela Marisol;
    • Ruíz-García, Matilde
    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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    Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.

    Published in:
    Nature Genetics, 2012, v. 44, n. 4, p. 450, doi. 10.1038/ng.1103
    By:
    • Sarparanta, Jaakko;
    • Jonson, Per Harald;
    • Golzio, Christelle;
    • Sandell, Satu;
    • Luque, Helena;
    • Screen, Mark;
    • McDonald, Kristin;
    • Stajich, Jeffrey M;
    • Mahjneh, Ibrahim;
    • Vihola, Anna;
    • Raheem, Olayinka;
    • Penttilä, Sini;
    • Lehtinen, Sara;
    • Huovinen, Sanna;
    • Palmio, Johanna;
    • Tasca, Giorgio;
    • Ricci, Enzo;
    • Hackman, Peter;
    • Hauser, Michael;
    • Katsanis, Nicholas
    Publication type:
    Article
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