Search Results - "PESTRONK, Alan"

Pathology Features of Immune and Inflammatory Myopathies, Including a Polymyositis Pattern, Relate Strongly to Serum Autoantibodies by Pestronk, Alan, Choksi, Rati

“…Abstract We asked whether myopathology features of immune or inflammatory myopathies (IIM), without reference to clinical or laboratory attributes, correlate…”
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Ultrasound of inherited vs. acquired demyelinating polyneuropathies by Zaidman, Craig M., Harms, Matthew B., Pestronk, Alan

“…We compared features of nerve enlargement in inherited and acquired demyelinating neuropathies using ultrasound. We measured median and ulnar nerve…”
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Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes by Cady, Janet, Allred, Peggy, Bali, Taha, Pestronk, Alan, Goate, Alison, Miller, Timothy M., Mitra, Robi D., Ravits, John, Harms, Matthew B., Baloh, Robert H.

“…Objective To define the genetic landscape of amyotrophic lateral sclerosis (ALS) and assess the contribution of possible oligogenic inheritance, we aimed to…”
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An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study by Miller, Timothy M, Dr, Pestronk, Alan, Prof, David, William, MD, Rothstein, Jeffrey, Prof, Simpson, Ericka, MD, Appel, Stanley H, Prof, Andres, Patricia L, MS, Mahoney, Katy, BA, Allred, Peggy, DPT, Alexander, Katie, BA, Ostrow, Lyle W, MD, Schoenfeld, David, Prof, Macklin, Eric A, PhD, Norris, Daniel A, PhD, Manousakis, Georgios, MD, Crisp, Matthew, BS, Smith, Richard, MD, Bennett, C Frank, PhD, Bishop, Kathie M, PhD, Cudkowicz, Merit E, Prof

“…Summary Background Mutations in SOD1 cause 13% of familial amyotrophic lateral sclerosis. In the SOD1 Gly93Ala rat model of amyotrophic lateral sclerosis, the…”
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Altered Axonal Mitochondrial Transport in the Pathogenesis of Charcot-Marie-Tooth Disease from Mitofusin 2 Mutations by Baloh, Robert H, Schmidt, Robert E, Pestronk, Alan, Milbrandt, Jeffrey

“…Mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) are the most commonly identified cause of Charcot-Marie-Tooth type 2 (CMT2), a dominantly…”
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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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Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms by Chung, Hyung-lok, Wangler, Michael F., Marcogliese, Paul C., Jo, Juyeon, Ravenscroft, Thomas A., Zuo, Zhongyuan, Duraine, Lita, Sadeghzadeh, Sina, Li-Kroeger, David, Schmidt, Robert E., Pestronk, Alan, Rosenfeld, Jill A., Burrage, Lindsay, Herndon, Mitchell J., Chen, Shan, Shillington, Amelle, Vawter-Lee, Marissa, Hopkin, Robert, Rodriguez-Smith, Jackeline, Henrickson, Michael, Lee, Brendan, Moser, Ann B., Jones, Richard O., Watkins, Paul, Yoo, Taekyeong, Mar, Soe, Choi, Murim, Bucelli, Robert C., Yamamoto, Shinya, Lee, Hyun Kyoung, Prada, Carlos E., Chae, Jong-Hee, Vogel, Tiphanie P., Bellen, Hugo J.

“…ACOX1 (acyl-CoA oxidase 1) encodes the first and rate-limiting enzyme of the very-long-chain fatty acid (VLCFA) β-oxidation pathway in peroxisomes and leads to…”
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Cryptogenic small‐fiber neuropathies: Serum autoantibody binding to trisulfated heparan disaccharide and fibroblast growth factor receptor‐3 by Levine, Todd D., Kafaie, Jafar, Zeidman, Lawrence A., Saperstein, David S., Massaquoi, Reyanna, Bland, Ruth J., Pestronk, Alan

“…Introduction Causes of small‐fiber peripheral neuropathies (SFN) are often undefined. In this study we investigated associations of serum autoantibodies,…”
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A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease by van der Ploeg, Ans T, Clemens, Paula R, Corzo, Deyanira, Escolar, Diana M, Florence, Julaine, Groeneveld, Geert Jan, Herson, Serge, Kishnani, Priya S, Laforet, Pascal, Lake, Stephen L, Lange, Dale J, Leshner, Robert T, Mayhew, Jill E, Morgan, Claire, Nozaki, Kenkichi, Park, Dorothy J, Pestronk, Alan, Rosenbloom, Barry, Skrinar, Alison, van Capelle, Carine I, van der Beek, Nadine A, Wasserstein, Melissa, Zivkovic, Sasa A

“…Pompe's disease is caused by a deficiency of acid alpha glucosidase, which degrades lysosomal glycogen. Late-onset Pompe's disease is characterized by…”
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Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy by Harms, Matthew B., Sommerville, R. Brian, Allred, Peggy, Bell, Shaughn, Ma, Duanduan, Cooper, Paul, Lopate, Glenn, Pestronk, Alan, Weihl, Conrad C., Baloh, Robert H.

“…Objective: To identify the causative gene in an autosomal dominant limb‐girdle muscular dystrophy (LGMD) with skeletal muscle vacuoles. Methods: Exome…”
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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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TDP-43 A315T mutation in familial motor neuron disease by Gitcho, Michael A., Baloh, Robert H., Chakraverty, Sumi, Mayo, Kevin, Norton, Joanne B., Levitch, Denise, Hatanpaa, Kimmo J., White III, Charles L., Bigio, Eileen H., Caselli, Richard, Baker, Matt, Al-Lozi, Muhammad T., Morris, John C., Pestronk, Alan, Rademakers, Rosa, Goate, Alison M., Cairns, Nigel J.

“…To identify novel causes of familial neurodegenerative diseases, we extended our previous studies of TAR DNA‐binding protein 43 (TDP‐43) proteinopathies to…”
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Myovascular innervation: Axon loss in small-fiber neuropathies by Dori, Amir, Lopate, Glenn, Keeling, Richard, Pestronk, Alan

“…ABSTRACT Introduction Vascular denervation occurs in some neuropathies, but measurement of small perivascular axons has been difficult. Methods We evaluated 31…”
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Defining SOD1 ALS natural history to guide therapeutic clinical trial design by Bali, Taha, Self, Wade, Liu, Jingxia, Siddique, Teepu, Wang, Leo H, Bird, Thomas D, Ratti, Elena, Atassi, Nazem, Boylan, Kevin B, Glass, Jonathan D, Maragakis, Nicholas J, Caress, James B, McCluskey, Leo F, Appel, Stanley H, Wymer, James P, Gibson, Summer, Zinman, Lorne, Mozaffar, Tahseen, Callaghan, Brian, McVey, April L, Jockel-Balsarotti, Jennifer, Allred, Peggy, Fisher, Elena R, Lopate, Glenn, Pestronk, Alan, Cudkowicz, Merit E, Miller, Timothy M

“…ImportanceUnderstanding the natural history of familial amyotrophic lateral sclerosis (ALS) caused by SOD1 mutations (ALSSOD1) will provide key information for…”
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Randomized phase 2 study of ACE‐083, a muscle‐promoting agent, in facioscapulohumeral muscular dystrophy by Statland, Jeffrey M., Campbell, Craig, Desai, Urvi, Karam, Chafic, Díaz‐Manera, Jordi, Guptill, Jeffrey T., Korngut, Lawrence, Genge, Angela, Tawil, Rabi N., Elman, Lauren, Joyce, Nanette C., Wagner, Kathryn R., Manousakis, Georgios, Amato, Anthony A., Butterfield, Russell J., Shieh, Perry B., Wicklund, Matthew, Gamez, Josep, Bodkin, Cynthia, Pestronk, Alan, Weihl, Conrad C., Vilchez‐Padilla, Juan J., Johnson, Nicholas E., Mathews, Katherine D., Miller, Barry, Leneus, Ashley, Fowler, Marcie, Rijn, Marc, Attie, Kenneth M.

“…Introduction/Aims Facioscapulohumeral muscular dystrophy (FSHD) is a slowly progressive muscular dystrophy without approved therapies. In this study we…”
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Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis by Sansone, Valeria A, Burge, James, McDermott, Michael P, Smith, Patty C, Herr, Barbara, Tawil, Rabi, Pandya, Shree, Kissel, John, Ciafaloni, Emma, Shieh, Perry, Ralph, Jeffrey W, Amato, Antony, Cannon, Steve C, Trivedi, Jaya, Barohn, Richard, Crum, Brian, Mitsumoto, Hiroshi, Pestronk, Alan, Meola, Giovanni, Conwit, Robin, Hanna, Michael G, Griggs, Robert C

“…OBJECTIVE:To determine the short-term and long-term effects of dichlorphenamide (DCP) on attack frequency and quality of life in hyperkalemic (HYP) and…”
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Phase II trial of CoQ10 for ALS finds insufficient evidence to justify phase III by Kaufmann, Petra, Thompson, John L.P., Levy, Gilberto, Buchsbaum, Richard, Shefner, Jeremy, Krivickas, Lisa S., Katz, Jonathan, Rollins, Yvonne, Barohn, Richard J., Jackson, Carlayne E., Tiryaki, Ezgi, Lomen-Hoerth, Catherine, Armon, Carmel, Tandan, Rup, Rudnicki, Stacy A., Rezania, Kourosh, Sufit, Robert, Pestronk, Alan, Novella, Steven P., Heiman-Patterson, Terry, Kasarskis, Edward J., Pioro, Erik P., Montes, Jacqueline, Arbing, Rachel, Vecchio, Darleen, Barsdorf, Alexandra, Mitsumoto, Hiroshi, Levin, Bruce

“…Objective Amyotrophic lateral sclerosis (ALS) is a devastating, and currently incurable, neuromuscular disease in which oxidative stress and mitochondrial…”
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Design and initial results of a multi-phase randomized trial of ceftriaxone in amyotrophic lateral sclerosis by Berry, James D, Shefner, Jeremy M, Conwit, Robin, Schoenfeld, David, Keroack, Myles, Felsenstein, Donna, Krivickas, Lisa, David, William S, Vriesendorp, Francine, Pestronk, Alan, Caress, James B, Katz, Jonathan, Simpson, Ericka, Rosenfeld, Jeffrey, Pascuzzi, Robert, Glass, Jonathan, Rezania, Kourosh, Rothstein, Jeffrey D, Greenblatt, David J, Cudkowicz, Merit E

“…Ceftriaxone increases expression of the astrocytic glutamate transporter, EAAT2, which might protect from glutamate-mediated excitotoxicity. A trial using a…”
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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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Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis by Weihl, Conrad C, Baloh, Robert H, Lee, Youjin, Chou, Tsui-Fen, Pittman, Sara K, Lopate, Glenn, Allred, Peggy, Jockel-Balsarotti, Jennifer, Pestronk, Alan, Harms, Matthew B

“…Highlights • We performed sequencing of 38 genes in 79 sporadic inclusion body myositis patients (sIBM). • Genetic variants associated with hereditary diseases…”
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