Works matching AU Ryan, Monique M.

Results: 104
    1

    Authors' Response to Commentary.

    Published in:
    2016
    By:
    • de Valle, Katy L.;
    • Davidson, Zoe E.;
    • Kennedy, Rachel A.;
    • Ryan, Monique M.;
    • Carroll, Kate M.
    Publication type:
    Letter to the Editor
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    Effect of creatine monohydrate on motor function in children with facioscapulohumeral muscular dystrophy: A multicenter, randomized, double‐blind placebo‐controlled crossover trial.

    Published in:
    Pharmacotherapy, 2025, v. 45, n. 6, p. 341, doi. 10.1002/phar.70025
    By:
    • Woodcock, Ian R.;
    • de Valle, Katy;
    • Cairns, Anita;
    • Davidson, Zoe E.;
    • Kean, Michael;
    • Varma, Nisha;
    • Grobler, Anneke;
    • Metz, David;
    • Carroll, Kate;
    • Dilek, Nuran;
    • Heatwole, Chad;
    • Ryan, Monique M.;
    • Delatycki, Martin B.;
    • Yiu, Eppie M.
    Publication type:
    Article
    4

    Scientific rationale for a higher dose of nusinersen.

    Published in:
    Annals of Clinical & Translational Neurology, 2022, v. 9, n. 6, p. 819, doi. 10.1002/acn3.51562
    By:
    • Finkel, Richard S.;
    • Ryan, Monique M.;
    • Pascual Pascual, Samuel Ignacio;
    • Day, John W.;
    • Mercuri, Eugenio;
    • De Vivo, Darryl C.;
    • Foster, Richard;
    • Montes, Jacqueline;
    • Gurgel‐Giannetti, Juliana;
    • MacCannell, Drew;
    • Berger, Zdenek
    Publication type:
    Article
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    Neurofilament as a potential biomarker for spinal muscular atrophy.

    Published in:
    Annals of Clinical & Translational Neurology, 2019, v. 6, n. 5, p. 932, doi. 10.1002/acn3.779
    By:
    • Darras, Basil T.;
    • Crawford, Thomas O.;
    • Finkel, Richard S.;
    • Mercuri, Eugenio;
    • De Vivo, Darryl C.;
    • Oskoui, Maryam;
    • Tizzano, Eduardo F.;
    • Ryan, Monique M.;
    • Muntoni, Francesco;
    • Zhao, Guolin;
    • Staropoli, John;
    • McCampbell, Alexander;
    • Petrillo, Marco;
    • Stebbins, Christopher;
    • Fradette, Stephanie;
    • Farwell, Wildon;
    • Sumner, Charlotte J.
    Publication type:
    Article
    7

    Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.

    Published in:
    JAMA Neurology, 2022, v. 79, n. 10, p. 1005, doi. 10.1001/jamaneurol.2022.2480
    By:
    • Guglieri, Michela;
    • Clemens, Paula R.;
    • Perlman, Seth J.;
    • Smith, Edward C.;
    • Horrocks, Iain;
    • Finkel, Richard S.;
    • Mah, Jean K.;
    • Deconinck, Nicolas;
    • Goemans, Nathalie;
    • Haberlova, Jana;
    • Straub, Volker;
    • Mengle-Gaw, Laurel J.;
    • Schwartz, Benjamin D.;
    • Harper, Amy D.;
    • Shieh, Perry B.;
    • De Waele, Liesbeth;
    • Castro, Diana;
    • Yang, Michelle L.;
    • Ryan, Monique M.;
    • McDonald, Craig M.
    Publication type:
    Article
    8
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    Aicardi Syndrome Is a Genetically Heterogeneous Disorder.

    Published in:
    Genes, 2023, v. 14, n. 8, p. 1565, doi. 10.3390/genes14081565
    By:
    • Ha, Thuong T.;
    • Burgess, Rosemary;
    • Newman, Morgan;
    • Moey, Ching;
    • Mandelstam, Simone A.;
    • Gardner, Alison E.;
    • Ivancevic, Atma M.;
    • Pham, Duyen;
    • Kumar, Raman;
    • Smith, Nicholas;
    • Patel, Chirag;
    • Malone, Stephen;
    • Ryan, Monique M.;
    • Calvert, Sophie;
    • van Eyk, Clare L.;
    • Lardelli, Michael;
    • Berkovic, Samuel F.;
    • Leventer, Richard J.;
    • Richards, Linda J.;
    • Scheffer, Ingrid E.
    Publication type:
    Article
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    Evaluation of non-coding variation in GLUT1 deficiency.

    Published in:
    2016
    By:
    • Liu, Yu‐Chi;
    • Lee, Jia Wei Audrey;
    • Bellows, Susannah T;
    • Damiano, John A;
    • Mullen, Saul A;
    • Berkovic, Samuel F;
    • Bahlo, Melanie;
    • Scheffer, Ingrid E;
    • Hildebrand, Michael S;
    • Ryan, Monique M.;
    • Leventer, Richard J.;
    • Freeman, Jeremy L.;
    • Mackay, Mark T.;
    • Hayman, Michael;
    • Rodriguez‐Casero, Victoria;
    • Subramanian, Gopi;
    • Webster, Richard;
    • Sadleir, Lynette G.
    Publication type:
    journal article
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    Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.

    Published in:
    Human Molecular Genetics, 2020, v. 29, n. 9, p. 1426, doi. 10.1093/hmg/ddaa051
    By:
    • Woldegebriel, Rosa;
    • Kvist, Jouni;
    • Andersson, Noora;
    • Õunap, Katrin;
    • Reinson, Karit;
    • Wojcik, Monica H;
    • Bijlsma, Emilia K;
    • Hoffer, Mariëtte J V;
    • Ryan, Monique M;
    • Stark, Zornitza;
    • Walsh, Maie;
    • Cuppen, Inge;
    • Boogaard, Marie-Jose´ H van den;
    • Bharucha-Goebel, Diana;
    • Donkervoort, Sandra;
    • Winchester, Sara;
    • Zori, Roberto;
    • Bönnemann, Carsten G;
    • Maroofian, Reza;
    • O'Connor, Emer
    Publication type:
    Article
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    Erratum to: Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.

    Published in:
    2019
    By:
    • Mandarakas, Melissa R;
    • Menezes, Manoj P;
    • Rose, Kristy J;
    • Shy, Rosemary;
    • Eichinger, Kate;
    • Foscan, Maria;
    • Estilow, Timothy;
    • Kennedy, Rachel;
    • Herbert, Karen;
    • Bray, Paula;
    • Refshauge, Kathryn;
    • Ryan, Monique M;
    • Yiu, Eppie M;
    • Farrar, Michelle;
    • Sampaio, Hugo;
    • Moroni, Isabella;
    • Pagliano, Emanuela;
    • Pareyson, Davide;
    • Yum, Sabrina W;
    • Herrmann, David N
    Publication type:
    journal article
    28

    Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.

    Published in:
    2018
    By:
    • Mandarakas, Melissa R;
    • Menezes, Manoj P;
    • Rose, Kristy J;
    • Shy, Rosemary;
    • Eichinger, Kate;
    • Foscan, Maria;
    • Estilow, Timothy;
    • Kennedy, Rachel;
    • Herbert, Karen;
    • Bray, Paula;
    • Refshauge, Kathryn;
    • Ryan, Monique M;
    • Yiu, Eppie M;
    • Farrar, Michelle;
    • Sampaio, Hugo;
    • Moroni, Isabella;
    • Pagliano, Emanuela;
    • Pareyson, Davide;
    • Yum, Sabrina W;
    • Herrmann, David N
    Publication type:
    journal article
    29

    MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

    Published in:
    2017
    By:
    • Ylikallio, Emil;
    • Woldegebriel, Rosa;
    • Tumiati, Manuela;
    • Isohanni, Pirjo;
    • Ryan, Monique M.;
    • Stark, Zornitza;
    • Walsh, Maie;
    • Sawyer, Sarah L.;
    • Bell, Katrina M.;
    • Oshlack, Alicia;
    • Lockhart, Paul J.;
    • Shcherbii, Mariia;
    • Estrada-Cuzcano, Alejandro;
    • Atkinson, Derek;
    • Hartley, Taila;
    • Tetreault, Martine;
    • Cuppen, Inge;
    • van der Pol, W. Ludo;
    • Candayan, Ayse;
    • Battaloglu, Esra
    Publication type:
    journal article
    30

    Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.

    Published in:
    2016
    By:
    • Jijun Wan;
    • Steffen, Janos;
    • Yourshaw, Michael;
    • Mamsa, Hafsa;
    • Andersen, Erik;
    • Rudnik-Schöneborn, Sabine;
    • Pope, Kate;
    • Howell, Katherine B.;
    • McLean, Catriona A.;
    • Kornberg, Andrew J.;
    • Joseph, Jörg;
    • Lockhart, Paul J.;
    • Zerres, Klaus;
    • Ryan, Monique M.;
    • Nelson, Stanley F.;
    • Koehler, Carla M.;
    • Jen, Joanna C.;
    • Wan, Jijun
    Publication type:
    journal article
    31

    Natural history of pulmonary function in collagen VI-related myopathies.

    Published in:
    2013
    By:
    • Foley, A Reghan;
    • Quijano-Roy, Susana;
    • Collins, James;
    • Straub, Volker;
    • McCallum, Michelle;
    • Deconinck, Nicolas;
    • Mercuri, Eugenio;
    • Pane, Marika;
    • D'Amico, Adele;
    • Bertini, Enrico;
    • North, Kathryn;
    • Ryan, Monique M;
    • Richard, Pascale;
    • Allamand, Valérie;
    • Hicks, Debbie;
    • Lamandé, Shireen;
    • Hu, Ying;
    • Gualandi, Francesca;
    • Auh, Sungyoung;
    • Muntoni, Francesco
    Publication type:
    journal article
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    Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.

    Published in:
    PLoS Genetics, 2016, v. 12, n. 7, p. 1, doi. 10.1371/journal.pgen.1006177
    By:
    • Brewer, Megan H.;
    • Chaudhry, Rabia;
    • Qi, Jessica;
    • Kidambi, Aditi;
    • Drew, Alexander P.;
    • Menezes, Manoj P.;
    • Ryan, Monique M.;
    • Farrar, Michelle A.;
    • Mowat, David;
    • Subramanian, Gopinath M.;
    • Young, Helen K.;
    • Zuchner, Stephan;
    • Reddel, Stephen W.;
    • Nicholson, Garth A.;
    • Kennerson, Marina L.
    Publication type:
    Article
    34

    The Clinical Development of Taldefgrobep Alfa: An Anti-Myostatin Adnectin for the Treatment of Duchenne Muscular Dystrophy.

    Published in:
    Neurology & Therapy, 2024, v. 13, n. 1, p. 183, doi. 10.1007/s40120-023-00570-w
    By:
    • Muntoni, Francesco;
    • Byrne, Barry J.;
    • McMillan, Hugh J.;
    • Ryan, Monique M.;
    • Wong, Brenda L.;
    • Dukart, Juergen;
    • Bansal, Amita;
    • Cosson, Valerie;
    • Dreghici, Roxana;
    • Guridi, Maitea;
    • Rabbia, Michael;
    • Staunton, Hannah;
    • Tirucherai, Giridhar S.;
    • Yen, Karl;
    • Yuan, Xiling;
    • Wagner, Kathryn R.;
    • the Taldefgrobep Alfa Study Group;
    • Carvajal, Irvith;
    • Chimalakonda, Anjaneya;
    • Gokemeijer, Jochem
    Publication type:
    Article
    35

    Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.

    Published in:
    2015
    By:
    • Todd, Emily J.;
    • Yau, Kyle S.;
    • Ong, Royston;
    • Slee, Jennie;
    • McGillivray, George;
    • Barnett, Christopher P.;
    • Haliloglu, Goknur;
    • Talim, Beril;
    • Akcoren, Zuhal;
    • Kariminejad, Ariana;
    • Cairns, Anita;
    • Clarke, Nigel F.;
    • Freckmann, Mary-Louise;
    • Romero, Norma B.;
    • Williams, Denise;
    • Sewry, Caroline A.;
    • Colley, Alison;
    • Ryan, Monique M.;
    • Kiraly-Borri, Cathy;
    • Sivadorai, Padma
    Publication type:
    journal article
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    Nemaline myopathy: a clinical study of 143 cases.

    Published in:
    2001
    By:
    • Ryan, Monique M.;
    • Schnell, Christina;
    • Strickland, Corinne D.;
    • Shield, Lloyd K.;
    • Morgan, Graeme;
    • Iannaccone, Susan T.;
    • Laing, Nigel G.;
    • Beggs, Alan H.;
    • North, Kathryn N.;
    • Ryan, M M;
    • Schnell, C;
    • Strickland, C D;
    • Shield, L K;
    • Morgan, G;
    • Iannaccone, S T;
    • Laing, N G;
    • Beggs, A H;
    • North, K N
    Publication type:
    journal article
    39

    Efficacy and safety of vamorolone in Duchenne muscular dystrophy: An 18-month interim analysis of a non-randomized open-label extension study.

    Published in:
    2020
    By:
    • Smith, Edward C.;
    • Conklin, Laurie S.;
    • Hoffman, Eric P.;
    • Clemens, Paula R.;
    • Mah, Jean K.;
    • Finkel, Richard S.;
    • Guglieri, Michela;
    • Tulinius, Mar;
    • Nevo, Yoram;
    • Ryan, Monique M.;
    • Webster, Richard;
    • Castro, Diana;
    • Kuntz, Nancy L.;
    • Kerchner, Laurie;
    • Morgenroth, Lauren P.;
    • Arrieta, Adrienne;
    • Shimony, Maya;
    • Jaros, Mark;
    • Shale, Phil;
    • Gordish-Dressman, Heather
    Publication type:
    journal article
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    Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.

    Published in:
    Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 3, p. 203, doi. 10.1002/mgg3.133
    By:
    • Marques, Isabel;
    • Sá, Maria João;
    • Soares, Gabriela;
    • Mota, Maria do Céu;
    • Pinheiro, Carla;
    • Aguiar, Lisa;
    • Amado, Marta;
    • Soares, Christina;
    • Calado, Angelina;
    • Dias, Patrícia;
    • Sousa, Ana Berta;
    • Fortuna, Ana Maria;
    • Santos, Rosário;
    • Howell, Katherine B.;
    • Ryan, Monique M.;
    • Leventer, Richard J;
    • Sachdev, Rani;
    • Catford, Rachael;
    • Friend, Kathryn;
    • Mattiske, Tessa R.
    Publication type:
    Article
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    A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice.

    Published in:
    PLoS ONE, 2024, v. 19, n. 1, p. 1, doi. 10.1371/journal.pone.0294847
    By:
    • Woodcock, Ian R.;
    • Tachas, George;
    • Desem, Nuket;
    • Houweling, Peter J.;
    • Kean, Michael;
    • Emmanuel, Jaiman;
    • Kennedy, Rachel;
    • Carroll, Kate;
    • de Valle, Katy;
    • Adams, Justine;
    • Lamandé, Shireen R.;
    • Coles, Chantal;
    • Tiong, Chrystal;
    • Burton, Matthew;
    • Villano, Daniella;
    • Button, Peter;
    • Hogrel, Jean-Yves;
    • Catling-Seyffer, Sarah;
    • Ryan, Monique M.;
    • Delatycki, Martin B.
    Publication type:
    Article
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