Found: 13

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  • LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 7, p. 1856, doi. 10.1093/hmg/ddt578
    By:
    • Ohkawara, Bisei;
    • Cabrera-Serrano, Macarena;
    • Nakata, Tomohiko;
    • Milone, Margherita;
    • Asai, Nobuyuki;
    • Ito, Kenyu;
    • Ito, Mikako;
    • Masuda, Akio;
    • Ito, Yasutomo;
    • Engel, Andrew G.;
    • Ohno, Kinji
    Publication type:
    Article

  • Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5235, doi. 10.1093/brain/awad256
    By:
    • Mavillard, Fabiola;
    • Servian-Morilla, Emilia;
    • Dofash, Lein;
    • Rojas-Marcos, Iñigo;
    • Folland, Chiara;
    • Monahan, Gavin;
    • Gutierrez-Gutierrez, Gerardo;
    • Rivas, Eloy;
    • Hernández-Lain, Aurelio;
    • Valladares, Amador;
    • Cantero, Gloria;
    • Morales, Jose M;
    • Laing, Nigel G;
    • Paradas, Carmen;
    • Ravenscroft, Gianina;
    • Cabrera-Serrano, Macarena
    Publication type:
    Article

  • Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.

    Published in:
    2022
    By:
    • Cabrera-Serrano, Macarena;
    • Caccavelli, Laure;
    • Savarese, Marco;
    • Vihola, Anna;
    • Jokela, Manu;
    • Johari, Mridul;
    • Capiod, Thierry;
    • Madrange, Marine;
    • Bugiardini, Enrico;
    • Brady, Stefen;
    • Quinlivan, Rosaline;
    • Merve, Ashirwad;
    • Scalco, Renata;
    • Hilton-Jones, David;
    • Houlden, Henry;
    • Aydin, Halil Ibrahim;
    • Ceylaner, Serdar;
    • Drewes, Sarah;
    • Vockley, Jerry;
    • Taylor, Rhonda L
    Publication type:
    journal article

  • Another step towards defining the genetic landscape of rhabdomyolysis.

    Published in:
    2021
    By:
    • Ravenscroft, Gianina;
    • Cabrera-Serrano, Macarena
    Publication type:
    journal article

  • Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 3, p. 353, doi. 10.1002/acn3.51002
    By:
    • Beecroft, Sarah J.;
    • Yau, Kyle S.;
    • Allcock, Richard J. N.;
    • Mina, Kym;
    • Gooding, Rebecca;
    • Faiz, Fathimath;
    • Atkinson, Vanessa J.;
    • Wise, Cheryl;
    • Sivadorai, Padma;
    • Trajanoski, Daniel;
    • Kresoje, Nina;
    • Ong, Royston;
    • Duff, Rachael M.;
    • Cabrera‐Serrano, Macarena;
    • Nowak, Kristen J.;
    • Pachter, Nicholas;
    • Ravenscroft, Gianina;
    • Lamont, Phillipa J.;
    • Davis, Mark R.;
    • Laing, Nigel G.
    Publication type:
    Article

  • NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.

    Published in:
    Annals of Clinical & Translational Neurology, 2019, v. 6, n. 11, p. 2328, doi. 10.1002/acn3.50910
    By:
    • Mavillard, Fabiola;
    • Madruga‐Garrido, Marcos;
    • Rivas, Eloy;
    • Servián‐Morilla, Emilia;
    • Ávila‐Polo, Rainiero;
    • Marcos, Irene;
    • Morón, Francisco J.;
    • Paradas, Carmen;
    • Cabrera‐Serrano, Macarena
    Publication type:
    Article

  • A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.

    Published in:
    EMBO Molecular Medicine, 2016, v. 8, n. 11, p. 1289, doi. 10.15252/emmm.201505815
    By:
    • Servián‐Morilla, Emilia;
    • Takeuchi, Hideyuki;
    • Lee, Tom V;
    • Clarimon, Jordi;
    • Mavillard, Fabiola;
    • Area‐Gómez, Estela;
    • Rivas, Eloy;
    • Nieto‐González, Jose L;
    • Rivero, Maria C;
    • Cabrera‐Serrano, Macarena;
    • Gómez‐Sánchez, Leonardo;
    • Martínez‐López, Jose A;
    • Estrada, Beatriz;
    • Márquez, Celedonio;
    • Morgado, Yolanda;
    • Suárez‐Calvet, Xavier;
    • Pita, Guillermo;
    • Bigot, Anne;
    • Gallardo, Eduard;
    • Fernández‐Chacón, Rafael
    Publication type:
    Article

  • Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-09111-2
    By:
    • Olivé, Montse;
    • Engvall, Martin;
    • Ravenscroft, Gianina;
    • Cabrera-Serrano, Macarena;
    • Jiao, Hong;
    • Bortolotti, Carlo Augusto;
    • Pignataro, Marcello;
    • Lambrughi, Matteo;
    • Jiang, Haibo;
    • Forrest, Alistair R. R.;
    • Benseny-Cases, Núria;
    • Hofbauer, Stefan;
    • Obinger, Christian;
    • Battistuzzi, Gianantonio;
    • Bellei, Marzia;
    • Borsari, Marco;
    • Di Rocco, Giulia;
    • Viola, Helena M.;
    • Hool, Livia C.;
    • Cladera, Josep
    Publication type:
    Article

  • Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy.

    Published in:
    Clinical Genetics, 2021, v. 100, n. 1, p. 106, doi. 10.1111/cge.13964
    By:
    • Mavillard, Fabiola;
    • Servián‐Morilla, Emilia;
    • Rivas, Eloy;
    • Paradas, Carmen;
    • Cabrera‐Serrano, Macarena
    Publication type:
    Article

  • A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

    Published in:
    Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-49950-2
    By:
    • Cortese, Andrea;
    • Beecroft, Sarah J.;
    • Facchini, Stefano;
    • Curro, Riccardo;
    • Cabrera-Serrano, Macarena;
    • Stevanovski, Igor;
    • Chintalaphani, Sanjog R.;
    • Gamaarachchi, Hasindu;
    • Weisburd, Ben;
    • Folland, Chiara;
    • Monahan, Gavin;
    • Scriba, Carolin K.;
    • Dofash, Lein;
    • Johari, Mridul;
    • Grosz, Bianca R.;
    • Ellis, Melina;
    • Fearnley, Liam G.;
    • Tankard, Rick;
    • Read, Justin;
    • Merve, Ashirwad
    Publication type:
    Article

  • Expanding the phenotype of GMPPB mutations.

    Published in:
    Brain: A Journal of Neurology, 2015, v. 138, n. 4, p. 836, doi. 10.1093/brain/awv013
    By:
    • Cabrera-Serrano, Macarena;
    • Ghaoui, Roula;
    • Ravenscroft, Gianina;
    • Johnsen, Russell D.;
    • Davis, Mark R.;
    • Corbett, Alastair;
    • Reddel, Stephen;
    • Sue, Carolyn M.;
    • Christina Liang;
    • Waddell, Leigh B.;
    • Kaur, Simranpreet;
    • Lek, Monkol;
    • North, Kathryn N.;
    • MacArthur, Daniel G.;
    • Lamont, Phillipa J.;
    • Clarke, Nigel F.;
    • Laing, Nigel G.
    Publication type:
    Article

  • A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism.

    Published in:
    Human Molecular Genetics, 2023, v. 32, n. 7, p. 1127, doi. 10.1093/hmg/ddac272
    By:
    • Dofash, Lein N H;
    • Monahan, Gavin V;
    • Servián-Morilla, Emilia;
    • Rivas, Eloy;
    • Faiz, Fathimath;
    • Sullivan, Patricia;
    • Oates, Emily;
    • Clayton, Joshua;
    • Taylor, Rhonda L;
    • Davis, Mark R;
    • Beilharz, Traude;
    • Laing, Nigel G;
    • Cabrera-Serrano, Macarena;
    • Ravenscroft, Gianina
    Publication type:
    Article

  • Novel CHKB mutation expands the megaconial muscular dystrophy phenotype.

    Published in:
    Muscle & Nerve, 2015, v. 51, n. 1, p. 140, doi. 10.1002/mus.24446
    By:
    • Cabrera ‐ Serrano, Macarena;
    • Junckerstorff, Reimar C.;
    • Atkinson, Vanessa;
    • Sivadorai, Padma;
    • Allcock, Richard J.;
    • Lamont, Phillipa;
    • Laing, Nigel G.
    Publication type:
    Article