Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes
Cady, Janet, Allred, Peggy, Bali, Taha, Pestronk, Alan, Goate, Alison, Miller, Timothy M., Mitra, Robi D., Ravits, John, Harms, Matthew B., Baloh, Robert H.
Published in Annals of neurology (01.01.2015)
Published in Annals of neurology (01.01.2015)
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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
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
Published in Lancet neurology (01.05.2013)
Published in Lancet neurology (01.05.2013)
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Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy
Griggs, Robert C, Miller, J Phillip, Greenberg, Cheryl R, Fehlings, Darcy L, Pestronk, Alan, Mendell, Jerry R, Moxley, 3rd, Richard T, King, Wendy, Kissel, John T, Cwik, Valerie, Vanasse, Michel, Florence, Julaine M, Pandya, Shree, Dubow, Jordan S, Meyer, James M
Published in Neurology (15.11.2016)
Published in Neurology (15.11.2016)
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Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms
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.
Published in Neuron (Cambridge, Mass.) (20.05.2020)
Published in Neuron (Cambridge, Mass.) (20.05.2020)
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Cryptogenic small‐fiber neuropathies: Serum autoantibody binding to trisulfated heparan disaccharide and fibroblast growth factor receptor‐3
Levine, Todd D., Kafaie, Jafar, Zeidman, Lawrence A., Saperstein, David S., Massaquoi, Reyanna, Bland, Ruth J., Pestronk, Alan
Published in Muscle & nerve (01.04.2020)
Published in Muscle & nerve (01.04.2020)
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A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease
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
Published in The New England journal of medicine (15.04.2010)
Published in The New England journal of medicine (15.04.2010)
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Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy
Harms, Matthew B., Sommerville, R. Brian, Allred, Peggy, Bell, Shaughn, Ma, Duanduan, Cooper, Paul, Lopate, Glenn, Pestronk, Alan, Weihl, Conrad C., Baloh, Robert H.
Published in Annals of neurology (01.03.2012)
Published in Annals of neurology (01.03.2012)
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LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy
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.
Published in Annals of neurology (01.04.2013)
Published in Annals of neurology (01.04.2013)
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TDP-43 A315T mutation in familial motor neuron disease
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.
Published in Annals of neurology (01.04.2008)
Published in Annals of neurology (01.04.2008)
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Myovascular innervation: Axon loss in small-fiber neuropathies
Dori, Amir, Lopate, Glenn, Keeling, Richard, Pestronk, Alan
Published in Muscle & nerve (01.04.2015)
Published in Muscle & nerve (01.04.2015)
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Defining SOD1 ALS natural history to guide therapeutic clinical trial design
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
Published in Journal of neurology, neurosurgery and psychiatry (01.02.2017)
Published in Journal of neurology, neurosurgery and psychiatry (01.02.2017)
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Randomized phase 2 study of ACE‐083, a muscle‐promoting agent, in facioscapulohumeral muscular dystrophy
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.
Published in Muscle & nerve (01.07.2022)
Published in Muscle & nerve (01.07.2022)
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Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis
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
Published in Neurology (12.04.2016)
Published in Neurology (12.04.2016)
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Phase II trial of CoQ10 for ALS finds insufficient evidence to justify phase III
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
Published in Annals of neurology (01.08.2009)
Published in Annals of neurology (01.08.2009)
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Design and initial results of a multi-phase randomized trial of ceftriaxone in amyotrophic lateral sclerosis
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
Published in PloS one (17.04.2013)
Published in PloS one (17.04.2013)
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Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis
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
Published in Neuromuscular disorders : NMD (01.04.2015)
Published in Neuromuscular disorders : NMD (01.04.2015)
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Analysis of Dystrophin Deletion Mutations Predicts Age of Cardiomyopathy Onset in Becker Muscular Dystrophy
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
Published in Circulation. Cardiovascular genetics (01.12.2009)
Published in Circulation. Cardiovascular genetics (01.12.2009)
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