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Duchenne muscular dystrophy caused by a novel deep intronic DMD mutation.
Published in:
2018
By:
- Ginsberg, Matthew R.;
- McCarty, Andrew J.;
- Lacomis, David;
- Abdel‐Hamid, Hoda Z.;
- Abdel-Hamid, Hoda Z
Publication type:
journal article
Brachium Pontis Stroke Revealing Neurofibromatosis Type-2.
Published in:
Journal of Neuroimaging, 2013, v. 23, n. 1, p. 132, doi. 10.1111/j.1552-6569.2011.00609.x
By:
- Sreedher, Gayathri;
- Panigrahy, Ashok;
- Ramos‐Martínez, Sheila Y.;
- Abdel‐Hamid, Hoda Z.;
- Zuccoli, Giulio
Publication type:
Article
Dual-energy X-ray absorptiometry measures of lean body mass as a biomarker for progression in boys with Duchenne muscular dystrophy.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-23072-5
By:
- Sherlock, Sarah P.;
- Palmer, Jeffrey;
- Wagner, Kathryn R.;
- Abdel-Hamid, Hoda Z.;
- Tian, Cuixia;
- Mah, Jean K.;
- Muntoni, Francesco;
- Guglieri, Michela;
- Butterfield, Russell J.;
- Charnas, Lawrence;
- Marraffino, Shannon
Publication type:
Article
A homozygous CAP2 pathogenic variant in a neonate presenting with rapidly progressive cardiomyopathy and nemaline rods.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 970, doi. 10.1002/ajmg.a.62590
By:
- Gurunathan, Sharavana;
- Sebastian, Jessica;
- Baker, Jennifer;
- Abdel‐Hamid, Hoda Z.;
- West, Shawn C.;
- Feingold, Brian;
- Peche, Vivek;
- Reyes‐Múgica, Miguel;
- Madan‐Khetarpal, Suneeta;
- Field, Jeffrey
Publication type:
Article
Genotype-phenotype analysis of 4q deletion syndrome: Proposal of a critical region.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2139, doi. 10.1002/ajmg.a.35502
By:
- Strehle, Eugen-Matthias;
- Yu, Linbo;
- Rosenfeld, Jill A.;
- Donkervoort, Sandra;
- Zhou, Yulin;
- Chen, Tian-Jian;
- Martinez, Jose E.;
- Fan, Yao-Shan;
- Barbouth, Deborah;
- Zhu, Hongbo;
- Vaglio, Alicia;
- Smith, Rosemarie;
- Stevens, Cathy A.;
- Curry, Cynthia J.;
- Ladda, Roger L.;
- Fan, Zheng (Jane);
- Fox, Joyce E.;
- Martin, Judith A.;
- Abdel-Hamid, Hoda Z.;
- McCracken, Elizabeth A.
Publication type:
Article
Clinical Follow-Up for Duchenne Muscular Dystrophy Newborn Screening: A Proposal.
Published in:
2016
By:
- Kwon, Jennifer M.;
- Abdel‐Hamid, Hoda Z.;
- Al‐Zaidy, Samiah A.;
- Mendell, Jerry R.;
- Kennedy, Annie;
- Kinnett, Kathi;
- Cwik, Valerie A.;
- Street, Natalie;
- Bolen, Julie;
- Day, John W.;
- Connolly, Anne M.
Publication type:
journal article
Twenty-year follow-up of newborn screening for patients with muscular dystrophy.
Published in:
2016
By:
- Chung, Jeffrey;
- Smith, Andrea L.;
- Hughes, Sarah C.;
- Niizawa, Gabriela;
- Abdel‐Hamid, Hoda Z.;
- Naylor, Edwin W.;
- Hughes, Timothy;
- Clemens, Paula R.
Publication type:
journal article
Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy.
Published in:
Muscle & Nerve, 2014, v. 49, n. 6, p. 822, doi. 10.1002/mus.24100
By:
- Wood, Molly F.;
- Hughes, Sarah C.;
- Hache, Lauren P.;
- Naylor, Edwin W.;
- Abdel‐Hamid, Hoda Z.;
- Barmada, M. Michael;
- Dobrowolski, Steven F.;
- Stickler, David E.;
- Clemens, Paula R.
Publication type:
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
A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen Treatment.
Published in:
Journal of Neuromuscular Diseases, 2022, v. 9, n. 1, p. 39, doi. 10.3233/JND-210665
By:
- Mitelman, Olga;
- Abdel-Hamid, Hoda Z.;
- Byrne, Barry J.;
- Connolly, Anne M.;
- Heydemann, Peter;
- Proud, Crystal;
- Shieh, Perry B.;
- Wagner, Kathryn R.;
- Dugar, Ashish;
- Santra, Sourav;
- Signorovitch, James;
- Goemans, Nathalie;
- McDonald, Craig M.;
- Mercuri, Eugenio;
- Mendell, Jerry R.
Publication type:
Article
Open-Label Evaluation of Eteplirsen in Patients with Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping: PROMOVI Trial.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 6, p. 989, doi. 10.3233/JND-210643
By:
- McDonald, Craig M.;
- Shieh, Perry B.;
- Abdel-Hamid, Hoda Z.;
- Connolly, Anne M.;
- Ciafaloni, Emma;
- Wagner, Kathryn R.;
- Goemans, Nathalie;
- Mercuri, Eugenio;
- Khan, Navid;
- Koenig, Erica;
- Malhotra, Jyoti;
- Wenfei Zhang;
- Baoguang Han;
- Mendell, Jerry R.
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

Found: 12