Works by Darras, Basil T.

Results: 81
    1

    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
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    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
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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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    Validation of the Expanded Hammersmith Functional Motor Scale in Spinal Muscular Atrophy Type II and III.

    Published in:
    Journal of Child Neurology, 2011, v. 26, n. 12, p. 1499, doi. 10.1177/0883073811420294
    By:
    • Glanzman, Allan M.;
    • O’Hagen, Jessica M.;
    • McDermott, Michael P.;
    • Martens, William B.;
    • Flickinger, Jean;
    • Riley, Susan;
    • Quigley, Janet;
    • Montes, Jacqueline;
    • Dunaway, Sally;
    • Deng, Liyong;
    • Chung, Wendy K.;
    • Tawil, Rabi;
    • Darras, Basil T.;
    • De Vivo, Darryl C.;
    • Kaufmann, Petra;
    • Finkel, Richard S.
    Publication type:
    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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    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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    Identifying Biomarkers of Spinal Muscular Atrophy for Further Development.

    Published in:
    Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 937, doi. 10.3233/JND-230054
    By:
    • Glascock, Jacqueline;
    • Darras, Basil T.;
    • Crawford, Thomas O.;
    • Sumner, Charlotte J.;
    • Kolb, Stephen J.;
    • DiDonato, Christine;
    • Elsheikh, Bakri;
    • Howell, Kelly;
    • Farwell, Wildon;
    • Valente, Marta;
    • Petrillo, Marco;
    • Tingey, Jessica;
    • Jarecki, Jill
    Publication type:
    Article
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    Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG).

    Published in:
    Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 389, doi. 10.3233/JND-221560
    By:
    • Finkel, Richard S.;
    • Darras, Basil T.;
    • Mendell, Jerry R.;
    • Day, John W.;
    • Kuntz, Nancy L.;
    • Connolly, Anne M.;
    • Zaidman, Craig M.;
    • Crawford, Thomas O.;
    • Butterfield, Russell J.;
    • Shieh, Perry B.;
    • Tennekoon, Gihan;
    • Brandsema, John F.;
    • Iannaccone, Susan T.;
    • Shoffner, John;
    • Kavanagh, Sarah;
    • Macek, Thomas A.;
    • Tauscher-Wisniewski, Sitra
    Publication type:
    Article
    23

    Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes.

    Published in:
    Journal of Neuromuscular Diseases, 2023, v. 10, n. 2, p. 199, doi. 10.3233/JND-221573
    By:
    • Dunaway Young, Sally;
    • Pasternak, Amy;
    • Duong, Tina;
    • McGrattan, Katlyn E.;
    • Stranberg, Sarah;
    • Maczek, Elizabeth;
    • Dias, Courtney;
    • Tang, Whitney;
    • Parker, Dana;
    • Levine, Alexis;
    • Rohan, Alyssa;
    • Wolford, Connie;
    • Martens, William;
    • McDermott, Michael P.;
    • Darras, Basil T.;
    • Day, John W.
    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
    28

    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
    29

    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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    LGMD2I in a North American population.

    Published in:
    BMC Musculoskeletal Disorders, 2007, v. 8, p. 115, doi. 10.1186/1471-2474-8-115
    By:
    • Kang, Peter B.;
    • Feener, Chris A.;
    • Estrella, Elicia;
    • Thorne, Marielle;
    • White, Alexander J.;
    • Darras, Basil T.;
    • Amato, Anthony A.;
    • Kunkel, Louis M.
    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
    41

    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
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