Found: 8

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  • Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale.

    Published in:
    2021
    By:
    • Jacobs, Marni B.;
    • James, Meredoith K.;
    • Lowes, Linda P.;
    • Alfano, Lindsay N.;
    • Eagle, Michelle;
    • Muni Lofra, Robert;
    • Moore, Ursula;
    • Feng, Jia;
    • Rufibach, Laura E.;
    • Rose, Kristy;
    • Duong, Tina;
    • Bello, Luca;
    • Pedrosa‐Hernández, Irene;
    • Holsten, Scott;
    • Sakamoto, Chikako;
    • Canal, Aurélie;
    • Sanchez‐Aguilera Práxedes, Nieves;
    • Thiele, Simone;
    • Siener, Catherine;
    • Vandevelde, Bruno
    Publication type:
    journal article

  • Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.

    Published in:
    Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.559327
    By:
    • Chakravorty, Samya;
    • Nallamilli, Babi Ramesh Reddy;
    • Khadilkar, Satish Vasant;
    • Singla, Madhu Bala;
    • Bhutada, Ashish;
    • Dastur, Rashna;
    • Gaitonde, Pradnya Satish;
    • Rufibach, Laura E;
    • Gloster, Logan;
    • Hegde, Madhuri
    Publication type:
    Article

  • Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach.

    Published in:
    Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.828525
    By:
    • Mayhew, Anna G.;
    • James, Meredith K.;
    • Moore, Ursula;
    • Sutherland, Helen;
    • Jacobs, Marni;
    • Jia Feng;
    • Lowes, Linda Pax;
    • Alfano, Lindsay N.;
    • Lofra, Robert Muni;
    • Rufibach, Laura E.;
    • Rose, Kristy;
    • Duong, Tina;
    • Bello, Luca;
    • Pedrosa-Hernández, Irene;
    • Holsten, Scott;
    • Chikako Sakamoto;
    • Canal, Aurélie;
    • Práxedes, Nieves Sánchez-Aguilera;
    • Thiele, Simone;
    • Siener, Catherine
    Publication type:
    Article

  • UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene.

    Published in:
    Human Mutation, 2012, v. 33, n. 3, p. E2317, doi. 10.1002/humu.22015
    By:
    • Blandin, Gaelle;
    • Beroud, Christophe;
    • Labelle, Veronique;
    • Nguyen, Karine;
    • Wein, Nicolas;
    • Hamroun, Dalil;
    • Williams, Brad;
    • Monnier, Nilah;
    • Rufibach, Laura E.;
    • Urtizberea, Jon Andoni;
    • Cau, Pierre;
    • Bartoli, Marc;
    • Lévy, Nicolas;
    • Krahn, Martin
    Publication type:
    Article

  • Comparison of strength testing modalities in dysferlinopathy.

    Published in:
    Muscle & Nerve, 2022, v. 66, n. 2, p. 159, doi. 10.1002/mus.27570
    By:
    • Reash, Natalie F.;
    • James, Meredith K.;
    • Alfano, Lindsay N.;
    • Mayhew, Anna G.;
    • Jacobs, Marni;
    • Iammarino, Megan A.;
    • Holsten, Scott;
    • Sakamoto, Chikako;
    • Tateishi, Takayuki;
    • Yajima, Hiroyuki;
    • Duong, Tina;
    • de Wolf, Brittney;
    • Gee, Richard;
    • Bharucha‐Goebel, Diana X.;
    • Bravver, Elena;
    • Mori‐Yoshimura, Madoka;
    • Bushby, Kate;
    • Rufibach, Laura E.;
    • Straub, Volker;
    • Lowes, Linda P.
    Publication type:
    Article

  • Cardiac and pulmonary findings in dysferlinopathy: A 3‐year, longitudinal study.

    Published in:
    Muscle & Nerve, 2022, v. 65, n. 5, p. 531, doi. 10.1002/mus.27524
    By:
    • Moore, Ursula;
    • Fernandez‐Torron, Roberto;
    • Jacobs, Marni;
    • Gordish‐Dressman, Heather;
    • Diaz‐Manera, Jordi;
    • James, Meredith K.;
    • Mayhew, Anna G.;
    • Harris, Elizabeth;
    • Guglieri, Michela;
    • Rufibach, Laura E.;
    • Feng, Jia;
    • Blamire, Andrew M.;
    • Carlier, Pierre G.;
    • Spuler, Simone;
    • Day, John W.;
    • Jones, Kristi J.;
    • Bharucha‐Goebel, Diana X.;
    • Salort‐Campana, Emmanuelle;
    • Pestronk, Alan;
    • Walter, Maggie C.
    Publication type:
    Article

  • DIAGNOSTIC OVERVIEW OF BLOOD-BASED DYSFERLIN PROTEIN ASSAY FOR DYSFERLINOPATHIES.

    Published in:
    Muscle & Nerve, 2014, v. 50, p. 333, doi. 10.1002/mus.24195
    By:
    • ANKALA, ARUNKANTH;
    • NALLAMILLI, BABI R.;
    • RUFIBACH, LAURA E.;
    • HWANG, ESTHER;
    • HEGDE, MADHURI R.
    Publication type:
    Article

  • Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies.

    Published in:
    Muscle & Nerve, 2014, v. 50, n. 3, p. 333, doi. 10.1002/mus.24195
    By:
    • Ankala, Arunkanth;
    • Nallamilli, Babi R.;
    • Rufibach, Laura E.;
    • Hwang, Esther;
    • Hegde, Madhuri R.
    Publication type:
    Article