Search Results - "Flanigan, Kevin M"

Duchenne and Becker Muscular Dystrophies by Flanigan, Kevin M., MD

“…The dystrophinopathies Duchenne and Becker muscular dystrophies (DMD and BMD) represent the most common inherited disorders of muscle. Improvements in cardiac…”
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Update in Duchenne and Becker muscular dystrophy by Waldrop, Megan A, Flanigan, Kevin M

“…The purpose of this review is to highlight updates in the standard of care recommendations for DMD, and to describe approaches to and recent advances in…”
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Eteplirsen for the treatment of Duchenne muscular dystrophy by Mendell, Jerry R., Rodino-Klapac, Louise R., Sahenk, Zarife, Roush, Kandice, Bird, Loren, Lowes, Linda P., Alfano, Lindsay, Gomez, Ann Maria, Lewis, Sarah, Kota, Janaiah, Malik, Vinod, Shontz, Kim, Walker, Christopher M., Flanigan, Kevin M., Corridore, Marco, Kean, John R., Allen, Hugh D., Shilling, Chris, Melia, Kathleen R., Sazani, Peter, Saoud, Jay B., Kaye, Edward M.

“…Objective In prior open‐label studies, eteplirsen, a phosphorodiamidate morpholino oligomer, enabled dystrophin production in Duchenne muscular dystrophy (DMD)…”
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Evidence-based path to newborn screening for duchenne muscular dystrophy by Mendell, Jerry R., Shilling, Chris, Leslie, Nancy D., Flanigan, Kevin M., al-Dahhak, Roula, Gastier-Foster, Julie, Kneile, Kelley, Dunn, Diane M., Duval, Brett, Aoyagi, Alexander, Hamil, Cindy, Mahmoud, Maha, Roush, Kandice, Bird, Lauren, Rankin, Chelsea, Lilly, Heather, Street, Natalie, Chandrasekar, Ram, Weiss, Robert B.

“…Objective: Creatine kinase (CK) levels are increased on dried blood spots in newborns related to the birthing process. As a marker for newborn screening, CK in…”
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Effects of Angiotensin-Converting Enzyme Inhibitors and/or Beta Blockers on the Cardiomyopathy in Duchenne Muscular Dystrophy by Viollet, Laurence, PhD, Thrush, Philip T., MD, Flanigan, Kevin M., MD, Mendell, Jerry R., MD, Allen, Hugh D., MD

“…Cardiomyopathy is a consequence of Duchenne muscular dystrophy (DMD). Suggested treatments include angiotensin-converting enzyme (ACE) inhibitors and/or β…”
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Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy by Finkel, Richard S, Flanigan, Kevin M, Wong, Brenda, Bönnemann, Carsten, Sampson, Jacinda, Sweeney, H Lee, Reha, Allen, Northcutt, Valerie J, Elfring, Gary, Barth, Jay, Peltz, Stuart W

“…Approximately 13% of boys with Duchenne muscular dystrophy (DMD) have a nonsense mutation in the dystrophin gene, resulting in a premature stop codon in the…”
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The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy by Koboldt, Daniel C., Waldrop, Megan A., Wilson, Richard K., Flanigan, Kevin M.

“…The bicaudal D cargo adaptor 2 (BICD2) gene encodes a conserved cargo adaptor protein required for dynein‐mediated transport. Inherited and de novo variants in…”
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Genetics and Emerging Treatments for Duchenne and Becker Muscular Dystrophy by Wein, Nicolas, PhD, Alfano, Lindsay, DPT, Flanigan, Kevin M., MD

“…Mutations in the DMD gene result in Duchenne or Becker muscular dystrophy due to absent or altered expression of the dystrophin protein. The more severe…”
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A Phase 1/2a Follistatin Gene Therapy Trial for Becker Muscular Dystrophy by Mendell, Jerry R, Sahenk, Zarife, Malik, Vinod, Gomez, Ana M, Flanigan, Kevin M, Lowes, Linda P, Alfano, Lindsay N, Berry, Katherine, Meadows, Eric, Lewis, Sarah, Braun, Lyndsey, Shontz, Kim, Rouhana, Maria, Clark, Kelly Reed, Rosales, Xiomara Q, Al-Zaidy, Samiah, Govoni, Alessandra, Rodino-Klapac, Louise R, Hogan, Mark J, Kaspar, Brian K

“…Becker muscular dystrophy (BMD) is a variant of dystrophin deficiency resulting from DMD gene mutations. Phenotype is variable with loss of ambulation in late…”
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Follistatin Gene Therapy for Sporadic Inclusion Body Myositis Improves Functional Outcomes by Mendell, Jerry R., Sahenk, Zarife, Al-Zaidy, Samiah, Rodino-Klapac, Louise R., Lowes, Linda P., Alfano, Lindsay N., Berry, Katherine, Miller, Natalie, Yalvac, Mehmet, Dvorchik, Igor, Moore-Clingenpeel, Melissa, Flanigan, Kevin M., Church, Kathleen, Shontz, Kim, Curry, Choumpree, Lewis, Sarah, McColly, Markus, Hogan, Mark J., Kaspar, Brian K.

“…Sporadic inclusion body myositis, a variant of inflammatory myopathy, has features distinct from polymyositis/dermatomyositis. The disease affects men more…”
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LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy by Flanigan, Kevin M., Ceco, Ermelinda, Lamar, Kay-Marie, Kaminoh, Yuuki, Dunn, Diane M., Mendell, Jerry R., King, Wendy M., Pestronk, Alan, Florence, Julaine M., Mathews, Katherine D., Finkel, Richard S., Swoboda, Kathryn J., Gappmaier, Eduard, Howard, Michael T., Day, John W., McDonald, Craig, McNally, Elizabeth M., Weiss, Robert B.

“…Objective Duchenne muscular dystrophy (DMD) displays a clinical range that is not fully explained by the primary DMD mutations. Ltbp4, encoding latent…”
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Distinctive patterns of microRNA expression in primary muscular disorders by Eisenberg, Iris, Eran, Alal, Nishino, Ichizo, Moggio, Maurizio, Lamperti, Costanza, Amato, Anthony A, Lidov, Hart G, Kang, Peter B, North, Kathryn N, Mitrani-Rosenbaum, Stella, Flanigan, Kevin M, Neely, Lori A, Whitney, Duncan, Beggs, Alan H, Kohane, Isaac S, Kunkel, Louis M

“…The primary muscle disorders are a diverse group of diseases caused by various defective structural proteins, abnormal signaling molecules, enzymes and…”
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Gentamicin-induced readthrough of stop codons in duchenne muscular dystrophy by Malik, Vinod, Rodino-Klapac, Louise R., Viollet, Laurence, Wall, Cheryl, King, Wendy, Al-Dahhak, Roula, Lewis, Sarah, Shilling, Christopher J., Kota, Janaiah, Serrano-Munuera, Carmen, Hayes, John, Mahan, John D., Campbell, Katherine J., Banwell, Brenda, Dasouki, Majed, Watts, Victoria, Sivakumar, Kumaraswamy, Bien-Willner, Ricardo, Flanigan, Kevin M., Sahenk, Zarife, Barohn, Richard J., Walker, Christopher M., Mendell, Jerry R.

“…Objective The objective of this study was to establish the feasibility of long‐term gentamicin dosing to achieve stop codon readthrough and produce full‐length…”
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Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy by Waldrop, Megan A., Moore, Steven A., Mathews, Katherine D., Darbro, Benjamin W., Medne, Livja, Finkel, Richard, Connolly, Anne M., Crawford, Thomas O., Drachman, Daniel, Wein, Nicolas, Habib, Ali A., Krzesniak‐Swinarska, Monika A., Zaidman, Craig M., Collins, James J., Jokela, Manu, Udd, Bjarne, Day, John W., Ortiz‐Guerrero, Gloria, Statland, Jeff, Butterfield, Russell J., Dunn, Diane M., Weiss, Robert B., Flanigan, Kevin M.

“…DMD pathogenic variants for Duchenne and Becker muscular dystrophy are detectable with high sensitivity by standard clinical exome analyses of genomic DNA…”
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RNA Interference Inhibits DUX4-induced Muscle Toxicity In Vivo: Implications for a Targeted FSHD Therapy by Wallace, Lindsay M, Liu, Jian, Domire, Jacqueline S, Garwick-Coppens, Sara E, Guckes, Susan M, Mendell, Jerry R, Flanigan, Kevin M, Harper, Scott Q.

“…No treatment exists for facioscapulohumeral muscular dystrophy (FSHD), one of the most common inherited muscle diseases. Although FSHD can be debilitating,…”
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Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle by Jurynec, Michael J, Xia, Ruohong, Mackrill, John J, Gunther, Derrick, Crawford, Thomas, Flanigan, Kevin M, Abramson, Jonathan J, Howard, Michael T, Grunwald, David Jonah

“…Mutations affecting the seemingly unrelated gene products, SepN1, a selenoprotein of unknown function, and RyR1, the major component of the ryanodine receptor…”
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Pre-clinical dose-escalation studies establish a therapeutic range for U7snRNA-mediated DMD exon 2 skipping by Simmons, Tabatha R., Vetter, Tatyana A., Huang, Nianyuan, Vulin-Chaffiol, Adeline, Wein, Nicolas, Flanigan, Kevin M.

“…Duchenne muscular dystrophy (DMD) is an X-linked progressive disease characterized by loss of dystrophin protein that typically results from truncating…”
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Analysis of Dystrophin Deletion Mutations Predicts Age of Cardiomyopathy Onset in Becker Muscular Dystrophy by Kaspar, Rita Wen, Allen, Hugh D, Ray, Will C, Alvarez, Carlos E, Kissel, John T, Pestronk, Alan, Weiss, Robert B, Flanigan, Kevin M, Mendell, Jerry R, Montanaro, Federica

“…Analysis of Dystrophin Deletion Mutations Predicts Age of Cardiomyopathy Onset in Becker Muscular Dystrophy Rita Wen Kaspar, PhD, RN ; Hugh D. Allen, MD ; Will…”
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Cryptic MHC class I-binding peptides are revealed by aminoglycoside-induced stop codon read-through into the 3′ UTR by Goodenough, Elliot, Robinson, Tara M., Zook, Matthew B., Flanigan, Kevin M., Atkinds, John F., Howard, Michael T., Eisenlohr, Laurence C.

“…Aminoglycosides have been proposed as therapies for genetic disorders caused by nonsense mutations, because of their capacity to enhance translational…”
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Systemic delivery of an AAV9 exon-skipping vector significantly improves or prevents features of Duchenne muscular dystrophy in the Dup2 mouse by Wein, Nicolas, Vetter, Tatyana A., Vulin, Adeline, Simmons, Tabatha R., Frair, Emma C., Bradley, Adrienne J., Gushchina, Liubov V., Almeida, Camila F., Huang, Nianyuan, Lesman, Daniel, Rajakumar, Dhanarajan, Weiss, Robert B., Flanigan, Kevin M.

“…Duchenne muscular dystrophy (DMD) is typically caused by mutations that disrupt the DMD reading frame, but nonsense mutations in the 5′ part of the gene induce…”
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