Works by Ryan, Monique M.

Results: 101
    1

    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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    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
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    Paediatric Code Stroke.

    Published in:
    Journal of Paediatrics & Child Health, 2022, v. 58, n. 2, p. 356, doi. 10.1111/jpc.15509
    By:
    • Long, Elliot;
    • Saw, Jarel T S;
    • Davis, Conor;
    • Morgan, Cam;
    • Sheridan, Bennett;
    • Monagle, Paul;
    • Ryan, Monique M;
    • Macdonald‐Laurs, Emma;
    • Mackay, Mark T
    Publication type:
    Article
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    Neuronal ceroid lipofuscinosis type 2: an Australian case series.

    Published in:
    2020
    By:
    • Johnson, Alexandra M;
    • Mandelstam, Simone;
    • Andrews, Ian;
    • Boysen, Katja;
    • Yaplito‐Lee, Joy;
    • Fietz, Michael;
    • Nagarajan, Lakshmi;
    • Rodriguez‐Casero, Victoria;
    • Ryan, Monique M;
    • Smith, Nicholas;
    • Scheffer, Ingrid E;
    • Ellaway, Carolyn;
    • Yaplito-Lee, Joy;
    • Rodriguez-Casero, Victoria
    Publication type:
    journal article
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    High resolution chromosomal microarray in undiagnosed neurological disorders.

    Published in:
    Journal of Paediatrics & Child Health, 2013, v. 49, n. 9, p. 716, doi. 10.1111/jpc.12256
    By:
    • Howell, Katherine B;
    • Kornberg, Andrew J;
    • Harvey, A Simon;
    • Ryan, Monique M;
    • Mackay, Mark T;
    • Freeman, Jeremy L;
    • Rodriguez Casero, M Victoria;
    • Collins, Kevin J;
    • Hayman, Michael;
    • Mohamed, Ahmad;
    • Ware, Tyson L;
    • Clark, Damian;
    • Bruno, Damien L;
    • Burgess, Trent;
    • Slater, Howard;
    • McGillivray, George;
    • Leventer, Richard J
    Publication type:
    Article
    16

    Juvenile Parkinsonism.

    Published in:
    Journal of Paediatrics & Child Health, 2013, v. 49, n. 5, p. 409, doi. 10.1111/j.1440-1754.2012.02555.x
    By:
    • Ware, Tyson L;
    • Srinivasan, Jayasri;
    • Gonzalez, Linda;
    • Hardikar, Winita;
    • Scheinberg, Adam M;
    • Baker, Louise;
    • Prakash, Chidambaram;
    • Ryan, Monique M
    Publication type:
    Article
    17

    VENLAFAXINE INGESTION IN A 4-YEAR-OLD GIRL.

    Published in:
    Journal of Paediatrics & Child Health, 2012, v. 48, n. 11, p. 1047, doi. 10.1111/j.1440-1754.2012.02600.x
    By:
    • Ware, Tyson L;
    • McCloskey, Kate;
    • Ryan, Monique M;
    • Cranswick, Noel
    Publication type:
    Article
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    Juvenile Huntington disease.

    Published in:
    Journal of Paediatrics & Child Health, 2006, v. 42, n. 9, p. 552, doi. 10.1111/j.1440-1754.2006.00921.x
    By:
    • Geevasinga, Nimeshan;
    • Richards, Fiona H.;
    • Jones, Kristi J.;
    • Ryan, Monique M.
    Publication type:
    Article
    22

    Guillain–Barré syndrome in childhood.

    Published in:
    Journal of Paediatrics & Child Health, 2005, v. 41, n. 5/6, p. 237, doi. 10.1111/j.1440-1754.2005.00602.x
    By:
    • Ryan, Monique M
    Publication type:
    Article
    23

    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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    Dietary L-Tyrosine Supplementation in Nemaline Myopathy.

    Published in:
    Journal of Child Neurology, 2008, v. 23, n. 6, p. 609, doi. 10.1177/0883073807309794
    By:
    • Ryan, Monique M.;
    • Sy, Catherine;
    • Rudge, Sian;
    • Ellaway, Carolyn;
    • Ketteridge, David;
    • Roddick, Laurence C.;
    • Iannaccone, Susan T.;
    • Kornberg, Andrew J.;
    • North, Kathryn N.
    Publication type:
    Article
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    Acute Ataxia in Childhood.

    Published in:
    Journal of Child Neurology, 2003, v. 18, n. 5, p. 309, doi. 10.1177/08830738030180050901
    By:
    • Ryan, Monique M.;
    • Engle, Elizabeth C.
    Publication type:
    Article
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    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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    A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial.

    Published in:
    Journal of Neuromuscular Diseases, 2021, v. 8, n. 5, p. 769, doi. 10.3233/JND-210689
    By:
    • Finkel, Richard S.;
    • McDonald, Craig M.;
    • Sweeney, H. Lee;
    • Finanger, Erika;
    • Knierbein, Erin Neil;
    • Wagner, Kathryn R.;
    • Mathews, Katherine D.;
    • Marks, Warren;
    • Statland, Jeffrey;
    • Nance, Jessica;
    • McMillan, Hugh J.;
    • McCullagh, Gary;
    • Cuixia Tian;
    • Ryan, Monique M.;
    • O'Rourke, Declan;
    • Müller-Felber, Wolfgang;
    • Tulinius, Mar;
    • Burnette, W. Bryan;
    • Cam-Tu Nguyen;
    • Vijayakumar, Kayal
    Publication type:
    Article
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    Multi-Omics Identifies Circulating miRNA and Protein Biomarkers for Facioscapulohumeral Dystrophy.

    Published in:
    Journal of Personalized Medicine, 2020, v. 10, n. 4, p. 236, doi. 10.3390/jpm10040236
    By:
    • Heier, Christopher R.;
    • Zhang, Aiping;
    • Nguyen, Nhu Y;
    • Tully, Christopher B.;
    • Panigrahi, Aswini;
    • Gordish-Dressman, Heather;
    • Pandey, Sachchida Nand;
    • Guglieri, Michela;
    • Ryan, Monique M.;
    • Clemens, Paula R.;
    • Thangarajh, Mathula;
    • Webster, Richard;
    • Smith, Edward C.;
    • Connolly, Anne M.;
    • McDonald, Craig M.;
    • Karachunski, Peter;
    • Tulinius, Mar;
    • Harper, Amy;
    • Mah, Jean K.;
    • Fiorillo, Alyson A.
    Publication type:
    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
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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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