Search | VHL CLAP/WR-PAHO/WHO

1.

MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase.

Lopes Abath Neto, Osorio; 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; Borell, Sabine; Schorling, David; Lin, Kimberly; Kolokotronis, Konstantinos; Lichter-Konecki, Uta; Kirschner, Janbernd; Nishino, Ichizo; Banwell, Brenda; Martínez-Azorín, Francisco; Burgon, Patrick G; Bönnemann, Carsten G.

Brain ; 144(9): 2722-2731, 2021 10 22.

Article in English | MEDLINE | ID: mdl-34581780

2.

Spinal muscular atrophy care in the COVID-19 pandemic era.

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.

Muscle Nerve ; 62(1): 46-49, 2020 07.

Article in English | MEDLINE | ID: mdl-32329921

3.

Thoracoscopic thymectomy for juvenile myasthenia gravis.

Kim, Aimee G; Upah, Sydney A; Brandsema, John F; Yum, Sabrina W; Blinman, Thane A.

Pediatr Surg Int ; 35(5): 603-610, 2019 May.

Article in English | MEDLINE | ID: mdl-30729982

4.

Dystrophinopathies.

Brandsema, John F; Darras, Basil T.

Semin Neurol ; 35(4): 369-84, 2015 Aug.

Article in English | MEDLINE | ID: mdl-26502761

5.

Subspecialty Health Care Utilization in Pediatric Patients With Muscular Dystrophy in the United States.

Matesanz, Susan E; Edelson, Jonathan B; Iacobellis, Katherine A; Mejia, Erika; Brandsema, John F; Wittlieb-Weber, Carol A; Okunowo, Oluwatimilehin; Griffis, Heather; Lin, Kimberly Y.

Neurol Clin Pract ; 14(4): e200312, 2024 Aug.

Article in English | MEDLINE | ID: mdl-38855715

6.

Eculizumab in Adolescent Patients With Refractory Generalized Myasthenia Gravis: A Phase 3, Open-Label, Multicenter Study.

Brandsema, John F; Ginsberg, Matthew; Hoshino, Hideki; Mimaki, Masakazu; Nagata, Satoru; Rao, Vamshi K; Ruzhansky, Katherine; Suresh, Niraja; Tiongson, Emmanuelle; Yamanouchi, Hideo; Frick, Glen; Hicks, Eden; Liao, Serena; Howard, James F.

Pediatr Neurol ; 156: 198-207, 2024 Apr 26.

Article in English | MEDLINE | ID: mdl-38810600

7.

Clinical importance of changes in magnetic resonance biomarkers for Duchenne muscular dystrophy.

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.

Ann Clin Transl Neurol ; 11(1): 67-78, 2024 01.

Article in English | MEDLINE | ID: mdl-37932907

8.

Pamrevlumab, a Fully Human Monoclonal Antibody Targeting Connective Tissue Growth Factor, for Non-Ambulatory Patients with Duchenne Muscular Dystrophy.

Connolly, Anne M; Zaidman, Craig M; Brandsema, John F; Phan, Han C; Tian, Cuixia; Zhang, Xueping; Li, Jack; Eisner, Mark D; Carrier, Ewa.

J Neuromuscul Dis ; 10(4): 685-699, 2023.

Article in English | MEDLINE | ID: mdl-37248912

9.

Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG).

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.

J Neuromuscul Dis ; 10(3): 389-404, 2023.

Article in English | MEDLINE | ID: mdl-36911944

10.

Health Care Use of Cardiac Specialty Care in Children With Muscular Dystrophy in the United States.

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.

J Am Heart Assoc ; 11(8): e024722, 2022 04 19.

Article in English | MEDLINE | ID: mdl-35411787

11.

Novel approaches to analysis of the North Star Ambulatory Assessment (NSAA) in Duchenne muscular dystrophy (DMD): Observations from a phase 2 trial.

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.

PLoS One ; 17(8): e0272858, 2022.

Article in English | MEDLINE | ID: mdl-35998119

12.

Quantitative magnetic resonance imaging measures as biomarkers of disease progression in boys with Duchenne muscular dystrophy: a phase 2 trial of domagrozumab.

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.

J Neurol ; 269(8): 4421-4435, 2022 Aug.

Article in English | MEDLINE | ID: mdl-35396602

13.

Diagnostic Testing for Patients with Spinal Muscular Atrophy.

Brandsema, John F; Gross, Brianna N; Matesanz, Susan E.

Clin Lab Med ; 40(3): 357-367, 2020 09.

Article in English | MEDLINE | ID: mdl-32718505

14.

Retrospective Analysis of Fractures and Factors Causing Ambulation Loss After Lower Limb Fractures in Duchenne Muscular Dystrophy.

Yildiz, Sulenur; Glanzman, Allan M; Estilow, Tim; Flickinger, Jean; Brandsema, John F; Tennekoon, Gihan; Banwell, Brenda L; Yum, Sabrina.

Am J Phys Med Rehabil ; 99(9): 789-794, 2020 09.

Article in English | MEDLINE | ID: mdl-32195737

15.

Ethical Challenges Confronted When Providing Nusinersen Treatment for Spinal Muscular Atrophy.

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.

JAMA Pediatr ; 172(2): 188-192, 2018 Feb 01.

Article in English | MEDLINE | ID: mdl-29228163

16.

Spinal muscular atrophy: Further expanding the clinician's armamentarium.

Brandsema, John F; Sumner, Charlotte J.

Neurology ; 93(14): 613-614, 2019 10 01.

Article in English | MEDLINE | ID: mdl-31488614

17.

Intermediate-dose idebenone and quality of life in Friedreich ataxia.

Brandsema, John F; Stephens, Derek; Hartley, Jessica; Yoon, Grace.

Pediatr Neurol ; 42(5): 338-42, 2010 May.

Article in English | MEDLINE | ID: mdl-20399388

18.

Cerebral arteriopathy in children with neurofibromatosis type 1.

Rea, David; Brandsema, John F; Armstrong, Derek; Parkin, Patricia C; deVeber, Gabrielle; MacGregor, Daune; Logan, William J; Askalan, Rand.

Pediatrics ; 124(3): e476-83, 2009 Sep.

Article in English | MEDLINE | ID: mdl-19706560

VHL CLAP/WR-PAHO/WHO

Latin-American Center for Perinatology, Woman and Reproductive Health

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