Search Results - "Mendell, Jerry R."

From Clinical Trials to Clinical Practice: Practical Considerations for Gene Replacement Therapy in SMA Type 1 by Al-Zaidy, Samiah A., Mendell, Jerry R.

“…Spinal muscular atrophy is a devastating neurodegenerative autosomal recessive disease that results from survival of motor neuron 1 (SMN1) gene mutation or…”
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Report of MDA muscle disease symposium on newborn screening for Duchenne muscular dystrophy by Mendell, Jerry R., Lloyd-Puryear, Michele

“…This report summarizes the progress made in newborn screening for Duchenne muscular dystrophy (DMD). This subject was discussed fully at a symposium held on…”
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Essential metabolic, anti-inflammatory, and anti-tumorigenic functions of miR-122 in liver by Hsu, Shu-Hao, Wang, Bo, Kota, Janaiah, Yu, Jianhua, Costinean, Stefan, Kutay, Huban, Yu, Lianbo, Bai, Shoumei, La Perle, Krista, Chivukula, Raghu R, Mao, Hsiaoyin, Wei, Min, Clark, K Reed, Mendell, Jerry R, Caligiuri, Michael A, Jacob, Samson T, Mendell, Joshua T, Ghoshal, Kalpana

“…miR-122, an abundant liver-specific microRNA (miRNA), regulates cholesterol metabolism and promotes hepatitis C virus (HCV) replication. Reduced miR-122…”
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Improving Single Injection CSF Delivery of AAV9-mediated Gene Therapy for SMA: A Dose–response Study in Mice and Nonhuman Primates by Meyer, Kathrin, Ferraiuolo, Laura, Schmelzer, Leah, Braun, Lyndsey, McGovern, Vicki, Likhite, Shibi, Michels, Olivia, Govoni, Alessandra, Fitzgerald, Julie, Morales, Pablo, Foust, Kevin D, Mendell, Jerry R, Burghes, Arthur H M, Kaspar, Brian K

“…Spinal muscular atrophy (SMA) is the most frequent lethal genetic neurodegenerative disorder in infants. The disease is caused by low abundance of the survival…”
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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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Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy by Mendell, Jerry R., Goemans, Nathalie, Lowes, Linda P., Alfano, Lindsay N., Berry, Katherine, Shao, James, Kaye, Edward M., Mercuri, Eugenio

“…Objective To continue evaluation of the long‐term efficacy and safety of eteplirsen, a phosphorodiamidate morpholino oligomer designed to skip DMD exon 51 in…”
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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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Gene Therapy for Spinal Muscular Atrophy: Safety and Early Outcomes by Waldrop, Megan A, Karingada, Cassandra, Storey, Mike A, Powers, Brenna, Iammarino, Megan A, Miller, Natalie F, Alfano, Lindsay N, Noritz, Garey, Rossman, Ian, Ginsberg, Matthew, Mosher, Kathryn A, Broomall, Eileen, Goldstein, Jessica, Bass, Nancy, Lowes, Linda P, Tsao, Chang-Yong, Mendell, Jerry R, Connolly, Anne M

“…Historically, autosomal recessive 5q-linked spinal muscular atrophy (SMA) has been the leading inherited cause of infant death. SMA is caused by the absence of…”
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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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Dose-Escalation Study of Systemically Delivered rAAVrh74.MHCK7.micro-dystrophin in the mdx Mouse Model of Duchenne Muscular Dystrophy by Potter, Rachael A, Griffin, Danielle A, Heller, Kristin N, Peterson, Ellyn L, Clark, Emma K, Mendell, Jerry R, Rodino-Klapac, Louise R

“…Duchenne muscular dystrophy (DMD) is a rare, X-linked, fatal, degenerative neuromuscular disease caused by mutations in the gene. More than 2,000 mutations of…”
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AAV1.NT-3 gene therapy for X-linked Charcot–Marie–Tooth neuropathy type 1 by Ozes, Burcak, Myers, Morgan, Moss, Kyle, Mckinney, Jennifer, Ridgley, Alicia, Chen, Lei, Bai, Shasha, Abrams, Charles K., Freidin, Mona M., Mendell, Jerry R., Sahenk, Zarife

“…X-linked Charcot-Marie-Tooth neuropathy (CMTX) is caused by mutations in the gene encoding Gap Junction Protein Beta-1 (GJB1)/Connexin32 (Cx32) in Schwann…”
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Astrocytes from familial and sporadic ALS patients are toxic to motor neurons by Kaspar, Brian K, Haidet-Phillips, Amanda M, Hester, Mark E, Miranda, Carlos J, Meyer, Kathrin, Braun, Lyndsey, Frakes, Ashley, Song, SungWon, Likhite, Shibi, Murtha, Matthew J, Foust, Kevin D, Rao, Meghan, Eagle, Amy, Kammesheidt, Anja, Christensen, Ashley, Mendell, Jerry R, Burghes, Arthur H M

“…Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease, with astrocytes implicated as contributing substantially to motor neuron death in familial…”
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Clinical development on the frontier: gene therapy for duchenne muscular dystrophy by Asher, Damon R, Thapa, Khampaseuth, Dharia, Sachi D, Khan, Navid, Potter, Rachael A, Rodino-Klapac, Louise R, Mendell, Jerry R

“…: The development of adeno-associated virus (AAV) vectors as safe vehicles for delivery of therapeutic genes has been a major milestone in the advancement of…”
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Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy by Griggs, Robert C, Miller, J Phillip, Greenberg, Cheryl R, Fehlings, Darcy L, Pestronk, Alan, Mendell, Jerry R, Moxley, Richard T, King, Wendy, Kissel, John T, Cwik, Valerie, Vanasse, Michel, Florence, Julaine M, Pandya, Shree, Dubow, Jordan S, Meyer, James M

“…OBJECTIVE:To assess safety and efficacy of deflazacort (DFZ) and prednisone (PRED) vs placebo in Duchenne muscular dystrophy (DMD). METHODS:This phase III,…”
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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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Duchenne muscular dystrophy： CRISPR/Cas9 treatment by Mendell, Jerry R, Rodino-klapac, Louise R

“…A novel approach to gene correc- tion by genome editing shows great promise as a treatment for Duch- enne muscular dystrophy （DMD）. CRISPR/Cas9 delivered by…”
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Reducing sarcolipin expression mitigates Duchenne muscular dystrophy and associated cardiomyopathy in mice by Voit, Antanina, Patel, Vishwendra, Pachon, Ronald, Shah, Vikas, Bakhutma, Mohammad, Kohlbrenner, Erik, McArdle, Joseph J., Dell’Italia, Louis J., Mendell, Jerry R., Xie, Lai-Hua, Hajjar, Roger J., Duan, Dongsheng, Fraidenraich, Diego, Babu, Gopal J.

“…Sarcolipin (SLN) is an inhibitor of the sarco/endoplasmic reticulum (SR) Ca 2+ ATPase (SERCA) and is abnormally elevated in the muscle of Duchenne muscular…”
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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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Validity of remote live stream video evaluation of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy by P Lowes, Linda, Alfano, Lindsay N, Iammarino, Megan A, Reash, Natalie F, Giblin, Kathryn, Hu, Larry, Yu, Lixi, Wang, Shufang, Salazar, Rachel, Mendell, Jerry R

“…Conducting functional assessments remotely can help alleviate the burden of in-person assessment on patients with Duchenne muscular dystrophy and their…”
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