Works matching DE "NEMALINE myopathy"


Results: 734
    1
    2
    3
    4
    5
    6
    7
    8
    9
    10
    11
    12

    Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of ALS.

    Published in:
    Annals of Clinical & Translational Neurology, 2024, v. 11, n. 7, p. 1775, doi. 10.1002/acn3.52083
    By:
    • Marriott, Heather;
    • Spargo, Thomas P.;
    • Al Khleifat, Ahmad;
    • Andersen, Peter M;
    • Başak, Nazli A.;
    • Cooper‐Knock, Johnathan;
    • Corcia, Philippe;
    • Couratier, Philippe;
    • de Carvalho, Mamede;
    • Drory, Vivian;
    • Gotkine, Marc;
    • Landers, John E.;
    • McLaughlin, Russell;
    • Pardina, Jesús S. Mora;
    • Morrison, Karen E.;
    • Pinto, Susana;
    • Shaw, Christopher E.;
    • Shaw, Pamela J.;
    • Silani, Vincenzo;
    • Ticozzi, Nicola
    Publication type:
    Article
    13

    Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.

    Published in:
    Annals of Clinical & Translational Neurology, 2024, v. 11, n. 3, p. 629, doi. 10.1002/acn3.51983
    By:
    • Donkervoort, Sandra;
    • Mohassel, Payam;
    • O'Leary, Melanie;
    • Bonner, Devon E.;
    • Hartley, Taila;
    • Acquaye, Nicole;
    • Brull, Astrid;
    • Mozaffar, Tahseen;
    • Saporta, Mario A.;
    • Dyment, David A.;
    • Sampson, Jacinda B.;
    • Pajusalu, Sander;
    • Austin‐Tse, Christina;
    • Hurth, Kyle;
    • Cohen, Julie S.;
    • McWalter, Kirsty;
    • Warman‐Chardon, Jodi;
    • Crunk, Amy;
    • Foley, A. Reghan;
    • Acosta, Maria T.
    Publication type:
    Article
    14

    A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy.

    Published in:
    Annals of Clinical & Translational Neurology, 2023, v. 10, n. 8, p. 1442, doi. 10.1002/acn3.51834
    By:
    • Mohassel, Payam;
    • Yun, Pomi;
    • Syeda, Safoora;
    • Batra, Abhinandan;
    • Bradley, Andrew J.;
    • Donkervoort, Sandra;
    • Monges, Soledad;
    • Cohen, Julie S.;
    • Leung, Doris G.;
    • Munell, Francina;
    • Ortez, Carlos;
    • Sánchez‐Montáñez, Angel;
    • Karachunski, Peter;
    • Brandsema, John;
    • Medne, Livija;
    • Chaudhry, Vinay;
    • Tasca, Giorgio;
    • Foley, A. Reghan;
    • Udd, Bjarne;
    • Arai, Andrew E.
    Publication type:
    Article
    15
    16

    Proteomic profiling of sporadic late‐onset nemaline myopathy.

    Published in:
    Annals of Clinical & Translational Neurology, 2022, v. 9, n. 3, p. 391, doi. 10.1002/acn3.51527
    By:
    • Naddaf, Elie;
    • Dasari, Surendra;
    • Selcen, Duygu;
    • Charlesworth, M. Cristine;
    • Johnson, Kenneth L.;
    • Mauermann, Michelle L.;
    • Kourelis, Taxiarchis
    Publication type:
    Article
    17

    Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 11, p. 2288, doi. 10.1002/acn3.51218
    By:
    • Silwal, Arpana;
    • Sarkozy, Anna;
    • Scoto, Mariacristina;
    • Ridout, Deborah;
    • Schmidt, Anne;
    • Laverty, Aidan;
    • Henriques, Matilde;
    • D'Argenzio, Luigi;
    • Main, Marion;
    • Mein, Rachael;
    • Manzur, Adnan Y;
    • Abel, Francois;
    • Al‐Ghamdi, Fouad;
    • Genetti, Casie A;
    • Ardicli, Didem;
    • Haliloglu, Goknur;
    • Topaloglu, Haluk;
    • Beggs, Alan H;
    • Muntoni, Francesco
    Publication type:
    Article
    18

    Genetic modifiers of respiratory function in Duchenne muscular dystrophy.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 786, doi. 10.1002/acn3.51046
    By:
    • Bello, Luca;
    • D'Angelo, Grazia;
    • Villa, Matteo;
    • Fusto, Aurora;
    • Vianello, Sara;
    • Merlo, Beatrice;
    • Sabbatini, Daniele;
    • Barp, Andrea;
    • Gandossini, Sandra;
    • Magri, Francesca;
    • Comi, Giacomo P.;
    • Pedemonte, Marina;
    • Tacchetti, Paola;
    • Lanzillotta, Valentina;
    • Trucco, Federica;
    • D'Amico, Adele;
    • Bertini, Enrico;
    • Astrea, Guja;
    • Politano, Luisa;
    • Masson, Riccardo
    Publication type:
    Article
    19
    20
    21

    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
    22
    23
    24
    25
    26
    27
    28
    29
    30
    31
    32
    33
    34
    35
    36
    37
    38
    39
    40
    41
    42
    43

    Mutation Analysis of Thin Basement Membrane Nephropathy.

    Published in:
    Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101779
    By:
    • Hirabayashi, Yosuke;
    • Katayama, Kan;
    • Mori, Mutsuki;
    • Matsuo, Hiroshi;
    • Fujimoto, Mika;
    • Joh, Kensuke;
    • Murata, Tomohiro;
    • Ito, Masaaki;
    • Dohi, Kaoru
    Publication type:
    Article
    44
    45
    46

    Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms.

    Published in:
    Genes, 2022, v. 13, n. 5, p. 760, doi. 10.3390/genes13050760
    By:
    • Cotta, Ana;
    • Souza, Lucas Santos;
    • Carvalho, Elmano;
    • Feitosa, Leticia Nogueira;
    • Cunha Jr., Antonio;
    • Navarro, Monica Machado;
    • Valicek, Jaquelin;
    • Menezes, Miriam Melo;
    • Neves, Simone Vilela Nunes;
    • Xavier-Neto, Rafael;
    • Vargas, Antonio Pedro;
    • Takata, Reinaldo Issao;
    • Paim, Julia Filardi;
    • Vainzof, Mariz
    Publication type:
    Article
    47
    48
    49
    50

    Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.

    Published in:
    Genes, 2020, v. 11, n. 5, p. 539, doi. 10.3390/genes11050539
    By:
    • Gonzalez-Quereda, Lidia;
    • Rodriguez, Maria Jose;
    • Diaz-Manera, Jordi;
    • Alonso-Perez, Jorge;
    • Gallardo, Eduard;
    • Nascimento, Andres;
    • Ortez, Carlos;
    • Natera-de Benito, Daniel;
    • Olive, Montse;
    • Gonzalez-Mera, Laura;
    • Lopez de Munain, Adolfo;
    • Zulaica, Miren;
    • Poza, Juan Jose;
    • Jerico, Ivonne;
    • Torne, Laura;
    • Riera, Pau;
    • Milisenda, Jose;
    • Sanchez, Aurora;
    • Garrabou, Gloria;
    • Llano, Isabel
    Publication type:
    Article