Works matching AU Darras, Basil T.


Results: 82
    1

    Psychometric properties of the PEDI-CAT for children and youth with spinal muscular atrophy.

    Published in:
    Journal of Pediatric Rehabilitation Medicine, 2021, v. 14, n. 3, p. 451, doi. 10.3233/PRM-190664
    By:
    • Fragala-Pinkham, Maria;
    • Pasternak, Amy;
    • McDermott, Michael P.;
    • Mirek, Elizabeth;
    • Glanzman, Allan M.;
    • Montes, Jacqueline;
    • Dunaway Young, Sally;
    • Salazar, Rachel;
    • Quigley, Janet;
    • Riley, Susan O.;
    • Chiriboga, Claudia A.;
    • Finkel, Richard S.;
    • Tennekoon, Gihan;
    • Martens, William B.;
    • De Vivo, Darryl C.;
    • Darras, Basil T.
    Publication type:
    Article
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    Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability.

    Published in:
    Human Mutation, 2021, v. 42, n. 6, p. 762, doi. 10.1002/humu.24206
    By:
    • Neuser, Sonja;
    • Brechmann, Barbara;
    • Heimer, Gali;
    • Brösse, Ines;
    • Schubert, Susanna;
    • O'Grady, Lauren;
    • Zech, Michael;
    • Srivastava, Siddharth;
    • Sweetser, David A.;
    • Dincer, Yasemin;
    • Mall, Volker;
    • Winkelmann, Juliane;
    • Behrends, Christian;
    • Darras, Basil T.;
    • Graham, Robert J.;
    • Jayakar, Parul;
    • Byrne, Barry;
    • Bar‐Aluma, Bat El;
    • Haberman, Yael;
    • Szeinberg, Amir
    Publication type:
    Article
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    Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020026
    By:
    • Hale, Jaime E.;
    • Darras, Basil T.;
    • Swoboda, Kathryn J.;
    • Estrella, Elicia;
    • Jin Yun Helen Chen;
    • Abbott, Mary-Alice;
    • Hay, Beverly N.;
    • Kumar, Binod;
    • Counihan, Anne M.;
    • Gerstel-Thompson, Jacalyn;
    • Sahai, Inderneel;
    • Eaton, Roger B.;
    • Comeau, Anne Marie
    Publication type:
    Article
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    Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy.

    Published in:
    Annals of Clinical & Translational Neurology, 2022, v. 9, n. 8, p. 1302, doi. 10.1002/acn3.51612
    By:
    • Bruels, Christine C.;
    • Littel, Hannah R.;
    • Daugherty, Audrey L.;
    • Stafki, Seth;
    • Estrella, Elicia A.;
    • McGaughy, Emily S.;
    • Truong, Don;
    • Badalamenti, Jonathan P.;
    • Pais, Lynn;
    • Ganesh, Vijay S.;
    • O'Donnell‐Luria, Anne;
    • Stalker, Heather J.;
    • Wang, Yang;
    • Collins, Christin;
    • Behlmann, Andrea;
    • Lemmers, Richard J. L. F.;
    • van der Maarel, Silvère M.;
    • Laine, Regina;
    • Ghosh, Partha S.;
    • Darras, Basil T.
    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
    8

    Baseline results of the Neuro NEXT spinal muscular atrophy infant biomarker study.

    Published in:
    Annals of Clinical & Translational Neurology, 2016, v. 3, n. 2, p. 132, doi. 10.1002/acn3.283
    By:
    • Kolb, Stephen J.;
    • Coffey, Christopher S.;
    • Yankey, Jon W.;
    • Krosschell, Kristin;
    • Arnold, W. David;
    • Rutkove, Seward B.;
    • Swoboda, Kathryn J.;
    • Reyna, Sandra P.;
    • Sakonju, Ai;
    • Darras, Basil T.;
    • Shell, Richard;
    • Kuntz, Nancy;
    • Castro, Diana;
    • Iannaccone, Susan T.;
    • Parsons, Julie;
    • Connolly, Anne M.;
    • Chiriboga, Claudia A.;
    • McDonald, Craig;
    • Burnette, W. Bryan;
    • Werner, Klaus
    Publication type:
    Article
    9

    Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.

    Published in:
    JAMA Neurology, 2022, v. 79, n. 4, p. 405, doi. 10.1001/jamaneurol.2022.0067
    By:
    • Morton, Sarah U.;
    • Christodoulou, John;
    • Costain, Gregory;
    • Muntoni, Francesco;
    • Wakeling, Emma;
    • Wojcik, Monica H.;
    • French, Courtney E.;
    • Szuto, Anna;
    • Dowling, James J.;
    • Cohn, Ronald D.;
    • Raymond, F. Lucy;
    • Darras, Basil T.;
    • Williams, David A.;
    • Lunke, Sebastian;
    • Stark, Zornitza;
    • Rowitch, David H.;
    • Agrawal, Pankaj B.
    Publication type:
    Article
    10
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    Clinical Application of Whole-Exome Sequencing.

    Published in:
    JAMA Neurology, 2013, v. 70, n. 6, p. 788, doi. 10.1001/jamaneurol.2013.247
    By:
    • Liew, Wendy K. M.;
    • Ben-Omran, Tawfeg;
    • Darras, Basil T.;
    • Prabhu, Sanjay P.;
    • De Vivo, Darryl C.;
    • Vatta, Matteo;
    • Yaping Yang;
    • Eng, Christine M.;
    • Chung, Wendy K.
    Publication type:
    Article
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    SMA-MAP: A Plasma Protein Panel for Spinal Muscular Atrophy.

    Published in:
    PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0060113
    By:
    • Kobayashi, Dione T.;
    • Shi, Jing;
    • Stephen, Laurie;
    • Ballard, Karri L.;
    • Dewey, Ruth;
    • Mapes, James;
    • Chung, Brett;
    • McCarthy, Kathleen;
    • Swoboda, Kathryn J.;
    • Crawford, Thomas O.;
    • Li, Rebecca;
    • Plasterer, Thomas;
    • Joyce, Cynthia;
    • Chung, Wendy K.;
    • Kaufmann, Petra;
    • Darras, Basil T.;
    • Finkel, Richard S.;
    • Sproule, Douglas M.;
    • Martens, William B.;
    • McDermott, Michael P.
    Publication type:
    Article
    15

    Acute care pediatric electromyography.

    Published in:
    Muscle & Nerve, 2000, v. 23, n. S9, p. S53, doi. 10.1002/1097-4598(2000)999:9<::AID-MUS10>3.0.CO;2-P
    By:
    • Jones, H. Royden;
    • Darras, Basil T.
    Publication type:
    Article
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    Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study.

    Published in:
    2022
    By:
    • Cances, Claude;
    • Vlodavets, Dmitry;
    • Comi, Giacomo Pietro;
    • Masson, Riccardo;
    • Mazurkiewicz-Bełdzińska, Maria;
    • Saito, Kayoko;
    • Zanoteli, Edmar;
    • Dodman, Angela;
    • El-Khairi, Muna;
    • Gorni, Ksenija;
    • Gravestock, Isaac;
    • Hoffart, Janine;
    • Scalco, Renata S.;
    • Darras, Basil T.;
    • the ANCHOVY Working Group;
    • Alberti, Katia;
    • Baranello, Giovanni;
    • Barisic, Nina;
    • Brolatti, Noemi;
    • Bruno, Claudio
    Publication type:
    journal article
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    Natural history of infantile-onset spinal muscular atrophy.

    Published in:
    2017
    By:
    • Kolb, Stephen J.;
    • Coffey, Christopher S.;
    • Yankey, Jon W.;
    • Krosschell, Kristin;
    • Arnold, W. David;
    • Rutkove, Seward B.;
    • Swoboda, Kathryn J.;
    • Reyna, Sandra P.;
    • Sakonju, Ai;
    • Darras, Basil T.;
    • Shell, Richard;
    • Kuntz, Nancy;
    • Castro, Diana;
    • Parsons, Julie;
    • Connolly, Anne M.;
    • Chiriboga, Claudia A.;
    • McDonald, Craig;
    • Burnette, W. Bryan;
    • Werner, Klaus;
    • Thangarajh, Mathula
    Publication type:
    journal article
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    Cover.

    Published in:
    Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 3, p. i, doi. 10.1002/mgg3.646
    By:
    • Bruels, Christine C.;
    • Li, Chengcheng;
    • Mendoza, Tonatiuh;
    • Khan, Jamillah;
    • Reddy, Hemakumar M.;
    • Estrella, Elicia A.;
    • Ghosh, Partha S.;
    • Darras, Basil T.;
    • Lidov, Hart G. W.;
    • Pacak, Christina A.;
    • Kunkel, Louis M.;
    • Modave, François;
    • Draper, Isabelle;
    • Kang, Peter B.
    Publication type:
    Article
    30
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    Analysis of human urinary extracellular vesicles reveals disordered renal metabolism in myotonic dystrophy type 1.

    Published in:
    Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-56479-5
    By:
    • Kumari, Preeti;
    • Sullivan, Lauren M.;
    • Li, Zhaozhi;
    • Parker Conquest, E.;
    • Cornforth, Elizabeth;
    • Jayakumar, Rojashree;
    • Hu, Ningyan;
    • Alexander Sizemore, J.;
    • McKee, Brigham B.;
    • Kitchen, Robert R.;
    • González-Pérez, Paloma;
    • Linville, Constance;
    • Castro, Karla;
    • Gutierrez, Hilda;
    • Samaan, Soleil;
    • Townsend, Elise L.;
    • Darras, Basil T.;
    • Rutkove, Seward B.;
    • Iannaccone, Susan T.;
    • Clemens, Paula R.
    Publication type:
    Article
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    Clinical trial readiness in non-ambulatory boys and men with duchenne muscular dystrophy: MDA-DMD network follow-up.

    Published in:
    2016
    By:
    • Connolly, Anne M.;
    • Florence, Julaine M.;
    • Zaidman, Craig M.;
    • Golumbek, Paul T.;
    • Mendell, Jerry R.;
    • Flanigan, Kevin M.;
    • Karachunski, Peter I.;
    • Day, John W.;
    • McDonald, Craig M.;
    • Darras, Basil T.;
    • Kang, Peter B.;
    • Siener, Catherine A.;
    • Gadeken, Rebecca K.;
    • Anand, Pallavi;
    • Schierbecker, Jeanine R.;
    • Malkus, Elizabeth C.;
    • Lowes, Linda P.;
    • Alfano, Lindsay N.;
    • Johnson, Linda;
    • Nicorici, Alina
    Publication type:
    journal article
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    Old measures and new scores in spinal muscular atrophy patients.

    Published in:
    Muscle & Nerve, 2015, v. 52, n. 3, p. 435, doi. 10.1002/mus.24748
    By:
    • Mazzone, Elena;
    • Montes, Jacqueline;
    • Main, Marion;
    • Mayhew, Anna;
    • Ramsey, Danielle;
    • Glanzman, Allan M.;
    • Dunaway, Sally;
    • Salazar, Rachel;
    • Pasternak, Amy;
    • Quigley, Janet;
    • Pane, Marika;
    • Pera, Maria C.;
    • Scoto, Mariacristina;
    • Messina, Sonia;
    • Sframeli, Maria;
    • D'amico, Adele;
    • Van Den Hauwe, Marleen;
    • Sivo, Serena;
    • Goemans, Nathalie;
    • Darras, Basil T.
    Publication type:
    Article
    49

    Outcome reliability in non-Ambulatory Boys/Men with duchenne muscular dystrophy.

    Published in:
    Muscle & Nerve, 2015, v. 51, n. 4, p. 522, doi. 10.1002/mus.24346
    By:
    • Connolly, Anne M.;
    • Malkus, Elizabeth C.;
    • Mendell, Jerry R.;
    • Flanigan, Kevin M.;
    • Miller, J. Philip;
    • Schierbecker, Jeanine R.;
    • Siener, Catherine A.;
    • Golumbek, Paul T.;
    • Zaidman, Craig M.;
    • Mcdonald, Craig M.;
    • Johnson, Linda;
    • Nicorici, Alina;
    • Karachunski, Peter I.;
    • Day, John W.;
    • Kelecic, Jason M.;
    • Lowes, Linda P.;
    • Alfano, Lindsay N.;
    • Darras, Basil T.;
    • Kang, Peter B.;
    • Quigley, Janet
    Publication type:
    Article
    50