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MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase.
Published in:
2021
By:
- Neto, Osorio Lopes Abath;
- Medne, Livija;
- Donkervoort, Sandra;
- Rodríguez-García, Maria Elena;
- Bolduc, Véronique;
- Hu, Ying;
- Guadagnin, Eleonora;
- Foley, A Reghan;
- Brandsema, John F;
- Glanzman, Allan M;
- Tennekoon, Gihan I;
- Santi, Mariarita;
- Berger, Justin H;
- Megeney, Lynn A;
- Komaki, Hirofumi;
- Inoue, Michio;
- Cotrina-Vinagre, Francisco Javier;
- Hernández-Lain, Aurelio;
- Martin-Hernández, Elena;
- Williams, Linford
Publication type:
journal article
Spinal muscular atrophy care in the COVID-19 pandemic era.
Published in:
2020
By:
- Veerapandiyan, Aravindhan;
- Connolly, Anne M.;
- Finkel, Richard S.;
- Arya, Kapil;
- Mathews, Katherine D.;
- Smith, Edward C.;
- Castro, Diana;
- Butterfield, Russell J.;
- Parsons, Julie A.;
- Servais, Laurent;
- Kuntz, Nancy;
- Rao, Vamshi K.;
- Brandsema, John F.;
- Mercuri, Eugenio;
- Ciafaloni, Emma
Publication type:
journal article
Medical management of muscle weakness in Duchenne muscular dystrophy.
Published in:
PLoS ONE, 2020, v. 15, n. 10, p. 1, doi. 10.1371/journal.pone.0240687
By:
- Rivera, Sarah R.;
- Jhamb, Sumit K.;
- Abdel-Hamid, Hoda Z.;
- Acsadi, Gyula;
- Brandsema, John;
- Ciafaloni, Emma;
- Darras, Basil T.;
- Iannaccone, Susan T.;
- Konersman, Chamindra G.;
- Kuntz, Nancy L.;
- McDonald, Craig M.;
- Parsons, Julie A.;
- Tesi Rocha, Carolina;
- Zaidman, Craig M.;
- Butterfield, Russell J.;
- Connolly, Anne M.;
- Mathews, Katherine D.
Publication type:
Article
Pamrevlumab, a Fully Human Monoclonal Antibody Targeting Connective Tissue Growth Factor, for Non-Ambulatory Patients with Duchenne Muscular Dystrophy.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 685, doi. 10.3233/JND-230019
By:
- Connolly, Anne M.;
- Zaidman, Craig M.;
- Brandsema, John F.;
- Phan, Han C.;
- Tian, Cuixia;
- Zhang, Xueping;
- Li, Jack;
- Eisner, Mark D.;
- Carrier, Ewa
Publication type:
Article
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
Clinical importance of changes in magnetic resonance biomarkers for Duchenne muscular dystrophy.
Published in:
Annals of Clinical & Translational Neurology, 2024, v. 11, n. 1, p. 67, doi. 10.1002/acn3.51933
By:
- Willcocks, Rebecca J.;
- Barnard, Alison M.;
- Daniels, Michael J.;
- Forbes, Sean C.;
- Triplett, William T.;
- Brandsema, John F.;
- Finanger, Erika L.;
- Rooney, William D.;
- Kim, Sarah;
- Wang, Dah‐Jyuu;
- Lott, Donovan J.;
- Senesac, Claudia R.;
- Walter, Glenn A.;
- Sweeney, H. Lee;
- Vandenborne, Krista
Publication type:
Article
A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy.
Published in:
Annals of Clinical & Translational Neurology, 2023, v. 10, n. 8, p. 1442, doi. 10.1002/acn3.51834
By:
- Mohassel, Payam;
- Yun, Pomi;
- Syeda, Safoora;
- Batra, Abhinandan;
- Bradley, Andrew J.;
- Donkervoort, Sandra;
- Monges, Soledad;
- Cohen, Julie S.;
- Leung, Doris G.;
- Munell, Francina;
- Ortez, Carlos;
- Sánchez‐Montáñez, Angel;
- Karachunski, Peter;
- Brandsema, John;
- Medne, Livija;
- Chaudhry, Vinay;
- Tasca, Giorgio;
- Foley, A. Reghan;
- Udd, Bjarne;
- Arai, Andrew E.
Publication type:
Article
Quantitative magnetic resonance imaging measures as biomarkers of disease progression in boys with Duchenne muscular dystrophy: a phase 2 trial of domagrozumab.
Published in:
Journal of Neurology, 2022, v. 269, n. 8, p. 4421, doi. 10.1007/s00415-022-11084-0
By:
- Sherlock, Sarah P.;
- Palmer, Jeffrey;
- Wagner, Kathryn R.;
- Abdel-Hamid, Hoda Z.;
- Bertini, Enrico;
- Tian, Cuixia;
- Mah, Jean K.;
- Kostera-Pruszczyk, Anna;
- Muntoni, Francesco;
- Guglieri, Michela;
- Brandsema, John F.;
- Mercuri, Eugenio;
- Butterfield, Russell J.;
- McDonald, Craig M.;
- Charnas, Lawrence;
- Marraffino, Shannon
Publication type:
Article
Thoracoscopic thymectomy for juvenile myasthenia gravis.
Published in:
2019
By:
- Kim, Aimee G.;
- Upah, Sydney A.;
- Brandsema, John F.;
- Yum, Sabrina W.;
- Blinman, Thane A.
Publication type:
journal article
Ethical Challenges Confronted When Providing Nusinersen Treatment for Spinal Muscular Atrophy.
Published in:
JAMA Pediatrics, 2018, v. 172, n. 2, p. 188, doi. 10.1001/jamapediatrics.2017.4409
By:
- Burgart, Alyssa M.;
- Magnus, David;
- Tabor, Holly K.;
- Paquette, Erin Daksha-Talati;
- Frader, Joel;
- Glover, Jaqueline J.;
- Jackson, Brian M.;
- Harrison, Charlotte H.;
- Urion, David K.;
- Graham, Robert J.;
- Brandsema, John F.;
- Feudtner, Chris
Publication type:
Article
Health Care Use of Cardiac Specialty Care in Children With Muscular Dystrophy in the United States.
Published in:
2022
By:
- Mejia, Erika J.;
- Lin, Kimberly Y.;
- Okunowo, Oluwatimilehin;
- Iacobellis, Katherine A.;
- Matesanz, Susan E.;
- Brandsema, John F.;
- Wittlieb-Weber, Carol A.;
- Katcoff, Hannah;
- Griffis, Heather;
- Edelson, Jonathan B.
Publication type:
journal article
Novel approaches to analysis of the North Star Ambulatory Assessment (NSAA) in Duchenne muscular dystrophy (DMD): Observations from a phase 2 trial.
Published in:
PLoS ONE, 2022, v. 17, n. 8, p. 1, doi. 10.1371/journal.pone.0272858
By:
- Muntoni, Francesco;
- Guglieri, Michela;
- Mah, Jean K.;
- Wagner, Kathryn R.;
- Brandsema, John F.;
- Butterfield, Russell J.;
- McDonald, Craig M.;
- Mayhew, Anna G.;
- Palmer, Jeffrey P.;
- Marraffino, Shannon;
- Charnas, Lawrence;
- Mercuri, Eugenio
Publication type:
Article
In Vivo NADH Fluorescence Monitoring as an Assay for Cellular Damage in Photodynamic Therapy.
Published in:
Photochemistry & Photobiology, 2001, v. 74, n. 6, p. 817, doi. 10.1562/0031-8655(2001)0740817IVNFMA2.0.CO2
By:
- Pogue, Brian W.;
- Pitts, Jonathan D.;
- Mycek, Mary-Ann;
- Sloboda, Roger D.;
- Wilmot, Carmen M.;
- Brandsema, John F.;
- O'Hara, Julia A.
Publication type:
Article

Found: 13