Found: 8

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  • Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.

    Published in:
    2018
    By:
    • Ortiz‐González, Xilma R.;
    • Tintos‐Hernández, Jesus A.;
    • Keller, Kierstin;
    • Li, Xueli;
    • Foley, A. Reghan;
    • Bharucha‐Goebel, Diana X.;
    • Kessler, Sudha K.;
    • Yum, Sabrina W.;
    • Crino, Peter B.;
    • He, Miao;
    • Wallace, Douglas C.;
    • Bönnemann, Carsten G.;
    • Ortiz-González, Xilma R;
    • Tintos-Hernández, Jesus A;
    • Bharucha-Goebel, Diana X
    Publication type:
    journal article

  • Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort.

    Published in:
    2021
    By:
    • Bharucha-Goebel, Diana X;
    • Norato, Gina;
    • Saade, Dimah;
    • Paredes, Eduardo;
    • Biancavilla, Victoria;
    • Donkervoort, Sandra;
    • Kaur, Rupleen;
    • Lehky, Tanya;
    • Fink, Margaret;
    • Armao, Diane;
    • Gray, Steven J;
    • Waite, Melissa;
    • Debs, Sarah;
    • Averion, Gilberto;
    • Hu, Ying;
    • Zein, Wadih M;
    • Foley, A Reghan;
    • Jain, Minal;
    • Bönnemann, Carsten G
    Publication type:
    journal article

  • Water T2 could predict functional decline in patients with dysferlinopathy.

    Published in:
    Journal of Cachexia, Sarcopenia & Muscle, 2022, v. 13, n. 6, p. 2888, doi. 10.1002/jcsm.13063
    By:
    • Moore, Ursula;
    • Caldas de Almeida Araújo, Ericky;
    • Reyngoudt, Harmen;
    • Gordish‐Dressman, Heather;
    • Smith, Fiona E.;
    • Wilson, Ian;
    • James, Meredith;
    • Mayhew, Anna;
    • Rufibach, Laura;
    • Day, John W.;
    • Jones, Kristi J.;
    • Bharucha‐Goebel, Diana X.;
    • Salort‐Campana, Emmanuelle;
    • Pestronk, Alan;
    • Walter, Maggie C.;
    • Paradas, Carmen;
    • Stojkovic, Tanya;
    • Mori‐Yoshimura, Madoka;
    • Bravver, Elena;
    • Pegoraro, Elena
    Publication type:
    Article

  • Surgical Management of Iris Bombe in Muscle-Eye-Brain Disease.

    Published in:
    Journal of Pediatric Ophthalmology & Strabismus, 2023, v. 60, n. 4, p. e35, doi. 10.3928/01913913-20230518-01
    By:
    • Gholap, Radhika S.;
    • Bharucha-Goebel, Diana X.;
    • Shats, Daniel A.;
    • Panchal, Bhakti K.;
    • Chong, Jessica;
    • Levin, Moran R.;
    • Alexander, Janet L.
    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

  • Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy.

    Published in:
    Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.613446
    By:
    • Moore, Ursula;
    • Jacobs, Marni;
    • Fernandez-Torron, Roberto;
    • LLauger Rossello, Jaume;
    • Smith, Fiona E.;
    • James, Meredith;
    • Mayhew, Anna;
    • Rufibach, Laura;
    • Carlier, Pierre G.;
    • Blamire, Andrew M.;
    • Day, John W.;
    • Jones, Kristi J.;
    • Bharucha-Goebel, Diana X.;
    • Salort-Campana, Emmanuelle;
    • Pestronk, Alan;
    • Walter, Maggie C.;
    • Paradas, Carmen;
    • Stojkovic, Tanya;
    • Mori-Yoshimura, Madoka;
    • Bravver, Elena
    Publication type:
    Article

  • Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.

    Published in:
    Journal of Child Neurology, 2016, v. 31, n. 9, p. 1114, doi. 10.1177/0883073816639718
    By:
    • Hotchkiss, Leslie;
    • Donkervoort, Sandra;
    • Leach, Meganne E.;
    • Mohassel, Payam;
    • Bharucha-Goebel, Diana X.;
    • Bradley, Nathaniel;
    • Nguyen, David;
    • Hu, Ying;
    • Gurgel-Giannetti, Juliana;
    • Bönnemann, Carsten G.
    Publication type:
    Article