Alan Pestronk
1975–2025 年に発表
- 130
- 論文数
- 25,523
- 被引用数
- 96
- h 指数
- 128
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Medicine54.7%
- Biochemistry, Genetics and Molecular Biology34%
- Neuroscience9.2%
- Immunology and Microbiology0.9%
- Engineering0.3%
- Agricultural and Biological Sciences0.1%
- その他0.8%
トピック
- Amyotrophic Lateral Sclerosis Research8.5%
- Neurogenetic and Muscular Disorders Research6.2%
- Muscle Physiology and Disorders5.9%
- RNA Research and Splicing3.4%
- Genetic Neurodegenerative Diseases3.2%
- Peripheral Neuropathies and Disorders3%
- その他69.8%
共著者
- Jerry R. Mendell17
- Anne M. Connolly14
- Conrad C. Weihl14
- Julaine Florence14
- Daniel B. Drachman12
- Jordi Díaz‐Manera10
- Richard J. Barohn10
- Tahseen Mozaffar10
- Matthew B. Harms9
- Robert H. Baloh9
- David R. Cornblath8
- John W. Day8
- Merit Cudkowicz8
- Pierre G. Carlier8
- Wendy King8
- Andrew J. Kornberg7
- Andrew M. Blamire7
- Craig M. Zaidman7
- Laura Rufibach7
- M. James7
- Peggy Allred7
- Ralph W. Kuncl7
- Robert C. Griggs7
- U. Moore7
全論文
- Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
著者: Hong Joo Kim, Nam Chul Kim, Yong‐Dong Wang, Emily A. Scarborough, Jennifer C. Moore, Zamia Diaz, Kyle S. MacLea, Brian D. Freibaum, Songqing Li, Amandine Molliex, Anderson Kanagaraj, Robert Carter, Khrista Boylan, Aleksandra Wojtas, Rosa Rademakers, Jack L. Pinkus, Steven A. Greenberg, John Q. Trojanowski, Bryan J. Traynor, Bradley Smith, Simon Topp, Athina-Soragia Gkazi, Jack W. Miller, Christopher E. Shaw, Michael Kottlors, Janbernd Kirschner, Alan Pestronk, Leslie A. Lange, Alice F. Ford, Aaron D. Gitler, Michael Benatar, Oliver D. King, Virginia Kimonis, Eric D. Ross, Conrad C. Weihl, James Shorter, J. Paul Taylor - Nature 2013 被引用: 1,518
- Phase 1–2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS
著者: Jonathan Mill, Merit Cudkowicz, Pamela J. Shaw, Peter M. Andersen, Nazem Atassi, Robert C. Bucelli, Angela Genge, Jonathan D. Glass, Shafeeq Ladha, Albert Ludolph, Nicholas J. Maragakis, Christopher McDermott, Alan Pestronk, John Ravits, François Salachas, Randall Trudell, Philip Van Damme, Lorne Zinman, C. Frank Bennett, Roger Lane, Alfred Sandrock, Heiko Runz, Danielle Graham, Hani Houshyar, Alexander McCampbell, Ivan Nestorov, Ih Chang, Manjit McNeill, Laura Fanning, Stephanie Fradette, Toby A. Ferguson - New England Journal of Medicine 2020 被引用: 543
- 224th ENMC International Workshop:
著者: Yves Allenbach, Andrew L. Mammen, Olivier Benvéniste, Werner Stenzel, Yves Allenbach, Anthony A. Amato, Audrey Aussey, Olivier Benvéniste, Jan De Bleecker, Ingrid de Groot, Marianne de Visser, Hans H. Goebel, B. Hervier, Norina Fischer, David Hilton‐Jones, Janice Lamb, Ingrid E. Lundberg, Andrew L. Mammen, Tahseen Mozaffar, Ichizo Nishino, Alan Pestronk, Ulrike Schara, Werner Stenzelr - Neuromuscular Disorders 2017 被引用: 554
- Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study
著者: Craig M. McDonald, Erik Henricson, Richard T. Abresch, Tina Duong, Nanette C. Joyce, Fengming Hu, Paula R. Clemens, Eric P. Hoffman, Avital Cnaan, Heather Gordish‐Dressman, Vijay Vishwanathan, S. Chidambaranathan, W. Douglas Biggar, Laura McAdam, Jean K. Mah, M. Tulinius, Avital Cnaan, Lauren P. Morgenroth, Robert T. Leshner, Carolina Tesi Rocha, Mathula Thangarajh, Tina Duong, Andrew J. Kornberg, Monique M. Ryan, Yoram Nevo, Alberto Dubrovsky, Paula R. Clemens, Hoda Abdel‐Hamid, Anne M. Connolly, Alan Pestronk, Jean Teasley, Tulio E. Bertorin, Richard Webster, Hanna Kolski, Nancy L. Kuntz, Sherilyn W. Driscoll, John B. Bodensteiner, Jose Carlo, Ksenija Gorni, Timothy Lotze, John W. Day, Peter Karachunski, Erik Henricson, Richard T. Abresch, Nanette C. Joyce, Craig M. McDonald - The Lancet 2017 被引用: 475
- An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study
著者: Timothy M. Miller, Alan Pestronk, William David, Jeffrey Rothstein, Ericka Simpson, Stanley H. Appel, Patricia L. Andres, Katy Mahoney, Peggy Allred, K. Alexander, Lyle W. Ostrow, David Schoenfeld, Eric A. Macklin, Daniel A Norris, Georgios Manousakis, Matthew J. Crisp, Richard Smith, C. Frank Bennett, Kathie M. Bishop, Merit Cudkowicz - The Lancet Neurology 2013 被引用: 607
- Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
著者: Giles D. Watts, Jill Wymer, Margaret J. Kovach, Sarju Mehta, Steven Mumm, Daniel Darvish, Alan Pestronk, Michael P. Whyte, Virginia Kimonis - Nature Genetics 2004 被引用: 1,398
- Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial
著者: Benedikt Schoser, Mark Roberts, Barry J. Byrne, Sheela Sitaraman, Hai Jiang, Pascal Laforêt, António Toscano, Jeff Castelli, Jordi Díaz‐Manera, Mitchell Goldman, Ans T. van der Ploeg, Drago Bratkovic, Srilakshmi Kuchipudi, Tahseen Mozaffar, Priya S. Kishnani, Ágnes Sebök, Alan Pestronk, Aleksandra Dominović-Kovačević, Aneal Khan, Blaž Koritnik, Céline Tard, Christopher Lindberg, Colin Quinn, Cornelia Kornblum, Crystal Eldridge, Cynthia Bodkin, David Reyes‐Leiva, Derralynn Hughes, Ela Stefanescu, Emmanuelle Salort‐Campana, Ernest Butler, Françoise Bouhour, Gee Kim, George K. Papadimas, Giancarlo Parenti, Halina Bartosik-Psujek, Hani Kushlaf, Akihiro Hashiguchi, Heather Lau, Hélio Pedro, Henning Andersen, Hernán Amartino, Hideaki Shiraishi, Hiroshi Kobayashi, Ivaylo Tarnev, Jaime Vengoechea, Jennifer Avelar, Jin‐Hong Shin, Jonathan Cauci, Jorge Alonso‐Pérez, József Janszky, Julie Berthy, Kristina Gutschmidt, Kristl G. Claeys, Mária Judit Molnár, Marie Wencel, Mark A. Tarnopolsky, Mazen M. Dimachkie, Michel Tchan, Miriam Freimer, Nicola Longo, Nuria Vidal-Fernandez, Olimpia Musumeci, Özlem Göker-Alpan, Patrick Deegan, Paula R. Clemens, Richard Roxburgh, Robert Henderson, Robert J. Hopkin, Sabrina Sacconi, Simona Fecarotta, Shahram Attarian, Stephan Wenninger, Stephanie DeArmey, Tarekegn Hiwot, Thomas Andrew Burrow, Tobias Ruck, Tomo Sawada, Vescei Laszlo, Wolfgang N. Löscher, Yin‐Hsiu Chien - The Lancet Neurology 2021 被引用: 132
- Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
著者: ITALSGEN, Janel O. Johnson, Erik P. Pioro, Ashley Boehringer, Ruth Chia, Howard Feit, Alan E. Renton, Hannah A. Pliner, Yevgeniya Abramzon, Giuseppe Marangi, Brett J Winborn, J. Raphael Gibbs, Michael A. Nalls, Sarah Morgan, Maryam Shoai, John Hardy, Alan Pittman, Richard W. Orrell, Andrea Malaspina, Katie Sidle, Pietro Fratta, Matthew B. Harms, Robert H. Baloh, Alan Pestronk, Conrad C. Weihl, Ekaterina Rogaeva, Lorne Zinman, Vivian E. Drory, Giuseppe Borghero, Gabriele Mora, Andrea Calvo, Jeffrey D. Rothstein, Carsten Drepper, Michael Sendtner, Andrew Singleton, J. Paul Taylor, Mark Cookson, Gabriella Restagno, Mario Sabatelli, Robert Bowser, Adriano Chiò, Bryan J. Traynor - Nature Neuroscience 2014 被引用: 443
- Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms
著者: Hyung-Lok Chung, Michael F. Wangler, Paul C. Marcogliese, Ju-Yeon Jo, Thomas A. Ravenscroft, Zhongyuan Zuo, Lita Duraine, Sina Sadeghzadeh, David Li‐Kroeger, Robert E. Schmidt, Alan Pestronk, Jill A. Rosenfeld, Lindsay C. Burrage, Mitchell J. Herndon, Shan Chen, Amelle Shillington, Marissa Vawter‐Lee, Robert J. Hopkin, Jackeline Rodriguez‐Smith, Michael Henrickson, Brendan Lee, Ann B. Moser, Richard O. Jones, Paul A. Watkins, Taekyeong Yoo, Soe Mar, Murim Choi, Robert C. Bucelli, Shinya Yamamoto, Hyun Kyoung Lee, Carlos E. Prada, Jong‐Hee Chae, Tiphanie P. Vogel, Hugo J. Bellen - Neuron 2020 被引用: 163
- Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study
著者: Ruth Chia, Sara Sáez-Atiénzar, Natalie A. Murphy, Adriano Chiò, Cornelis Blauwendraat, Ricardo H. Roda, Pentti J. Tienari, Henry J. Kaminski, Roberta Ricciardi, Melania Guida, Anna De Rosa, Loredana Petrucci, Amelia Evoli, Carlo Provenzano, Daniel B. Drachman, Bryan J. Traynor, Yevgeniya Abramzon, Richard J. Barohn, Michael Benatar, Derrick Blackmore, Vinay Chaudhry, Adriano Chiò, Manisha Chopra, Andrea M. Corse, Anna De Rosa, Mazen M. Dimachkie, Amelia Evoli, Julaine Florence, Miriam Freimer, Melania Guida, James F. Howard, Theresa Jiwa, Henry J. Kaminski, John T. Kissel, Wilma J. Koopman, Bernadette Lipscomb, Michelangelo Maestri, Mariapaola Marino, Janice M. Massey, April McVey, Michelle M. Mezei, Srikanth Muppidi, Michael Nicolle, Joël Oger, Robert M. Pascuzzi, Mamatha Pasnoor, Alan Pestronk, Loredana Petrucci, Hannah A. Pliner, Carlo Provenzano, Alan E. Renton, Roberta Ricciardi, David P. Richman, Julie Rowin, Donald B. Sanders, Mario Sabatelli, Zaeem A. Siddiqi, Aimee Soloway, Laura Todi, Gil I. Wolfe, Charlie Wulf, Daniel B. Drachman, Bryan J. Traynor - National Academy of Sciences, Proceedings of the National Academy of Sciences 2022 被引用: 132
- A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease
著者: Ans T. van der Ploeg, Paula R. Clemens, Deyanira Corzo, Diana M. Escolar, Julaine Florence, Geert Jan Groeneveld, S. Herson, Priya S. Kishnani, Pascal Laforêt, Stephen Lake, Dale J. Lange, Robert T. Leshner, J. Mayhew, Claire Morgan, Kenkichi Nozaki, Dorothy J. Park, Alan Pestronk, Barry E. Rosenbloom, Alison Skrinar, Carine I. van Capelle, Nadine A. M. E. van der Beek, Melissa Wasserstein, Saša Živković - New England Journal of Medicine 2010 被引用: 747
- Phase II trial of CoQ10 for ALS finds insufficient evidence to justify phase III
著者: Petra Kaufmann, John L.P. Thompson, Gilberto Levy, Richard Buchsbaum, Jeremy M. Shefner, Lisa S. Krivickas, Jonathan Katz, Yvonne D. Rollins, Richard J. Barohn, Carlayne E. Jackson, Ezgi Tiryaki, Catherine Lomen‐Hoerth, Carmel Armon, Rup Tandan, Stacy A. Rudnicki, Kourosh Rezania, Robert Sufit, Alan Pestronk, Steven Novella, Terry Heiman‐Patterson, Edward J. Kasarskis, Erik P. Pioro, Jacqueline Montes, Rachel Arbing, Darleen Vecchio, Alexandra I. Barsdorf, Hiroshi Mitsumoto, Bruce Levin - Annals of Neurology 2009 被引用: 235
- TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia
著者: Conrad C. Weihl, Peyker Temız, Sara Miller, Gerald F. Watts, Colin Smith, Mark S. Forman, Phyllis I. Hanson, Virginia Kimonis, Alan Pestronk - Journal of Neurology Neurosurgery & Psychiatry 2008 被引用: 308
- Prednisone/prednisolone and deflazacort regimens in the CINRG Duchenne Natural History Study
著者: Luca Bello, Heather Gordish‐Dressman, Lauren P. Morgenroth, Erik Henricson, Tina Duong, Eric P. Hoffman, Avital Cnaan, Craig M. McDonald, Richard T. Abresch, Mark D. Cregan, Erica Goude, Linda B. Johnson, Jay J. Han, Nanette C. Joyce, Alina Nicorici, Dereddi Raja Reddy, Venkatarman Viswanathan, C. Chidambaranathan, T. K. Susheel Kumar, V Lakshmi, P. Reddappa, Laura McAdam, D. Biggar, L. Eliasoph, E. Hosaki, Valerie Harris, G. Lee, Jean K. Mah, A. W. Chiu, Thomas Haig, Mark Harris, N. Nieto del Rincón, Katherine Sanchez, Lori A. Walker, M. Tulinius, A. Alhander, Andreas Ekström, Åsa Gustafsson, Anna‐Karin Kroksmark, U. Sterky, L. Wahlgren, Mathula Thangarajh, Robert T. Leshner, Carolina Tesi Rocha, Marisa Birkmeier, S. Kaminski, Andrew J. Kornberg, Monique M. Ryan, Kate Carroll, Katy DeValle, Rachel A. Kennedy, V. Rodríguez, D. Villano, Yoram Nevo, Roberto Adani, L. Chen-Joseph, M. Daana, A. Bar Leve, V. Panteleyev-Yitshak, Elana Simchovitz, David Yaffe, Alberto Dubrovsky, Luz Andreone, F. Bonaudo, José Corderí, L. Mesa, Pilar Marco, L Levi, Paula R. Clemens, Hoda Abdel‐Hamid, R. Bendixen, Christopher G. Bise, A. Craig, K. Karnavas, Christopher Matthews, Gabriela Niizawa, A. Smith, Jason Weimer, Anne M. Connolly, Alan Pestronk, Julaine Florence, Traci A. Christenson, P. Golumbak, Betsy Malkus, Renee Renna, Jeanine Schierbecker, C. Seiner, Charlie Wulf, Jean Teasley, S. N. Blair, Barbara Grillo, Eugenio Monasterio, T. E. Bertoríni, Masanori Igarashi, M. Barrett-Adair, K. Carter, J. Clift, B. Gatlin, Jacob B. Holloway, Rachel Young ほか 50 名 - Neurology 2015 被引用: 222
- Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort
著者: Kevin M. Flanigan, Diane M. Dunn, Andrew von Niederhausern, Payam Soltanzadeh, Eduard Gappmaier, Michael Howard, Jacinda B. Sampson, Jerry R. Mendell, Cheryl Wall, Wendy King, Alan Pestronk, Julaine Florence, Anne M. Connolly, Katherine D. Mathews, Carrie Stephan, Karla S. Laubenthal, Brenda Wong, P. Morehart, Amy Meyer, Richard S. Finkel, Carsten G. Bönnemann, Līvija Medne, John W. Day, Joline Dalton, Marcia K. Margolis, Veronica J. Hinton, Robert B. Weiss - Human Mutation 2009 被引用: 314
- A phase I/IItrial of MYO‐029 in adult subjects with muscular dystrophy
著者: Kathryn R. Wagner, James L. Fleckenstein, Anthony A. Amato, Richard J. Barohn, K. Bushby, Diana M. Escolar, Kevin M. Flanigan, Alan Pestronk, Rabi Tawil, Gil I. Wolfe, Michelle Eagle, Julaine Florence, Wendy King, Shree Pandya, Volker Straub, Paul Juneau, Kathleen N. Meyers, Cristina Csimma, Tracey Araujo, Robert H. Allen, Stephanie A. Parsons, John M. Wozney, Edward R. LaVallie, Jerry R. Mendell - Annals of Neurology 2008 被引用: 468
- Longitudinal pulmonary function testing outcome measures in Duchenne muscular dystrophy: Long-term natural history with and without glucocorticoids
著者: Craig M. McDonald, Heather Gordish‐Dressman, Erik Henricson, Tina Duong, Nanette C. Joyce, Sanjay Jhawar, Mika Leinonen, Feng‐Ming Hsu, Anne M. Connolly, Avital Cnaan, Richard T. Abresch, Alberto Dubrovsky, Andrew J. Kornberg, Monique M. Ryan, Richard Webster, W. Douglas Biggar, Laura McAdam, Jean K. Mah, Hanna Kolski, V. Vishwanathan, S. Chidambaranathan, Yoram Nevo, K. Gorni, James J. Carlo, M. Tulinius, Timothy Lotze, T. E. Bertoríni, John Day, Peter Karachunski, Paula R. Clemens, Hoda Abdel‐Hamid, Jean Teasley, Nancy L. Kuntz, Stephen Driscoll, John B. Bodensteiner, Anne M. Connolly, Alan Pestronk, Richard T. Abresch, Erik Henricson, Nanette C. Joyce, Craig M. McDonald, Avital Cnaan, Lauren P. Morgenroth, Robert T. Leshner, Carolina Tesi Rocha, Mathula Thangarajh, Tina Duong - Neuromuscular Disorders 2018 被引用: 117
- Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study
著者: Loren Peña, Richard J. Barohn, Barry J. Byrne, Claude Desnuelle, Özlem Göker-Alpan, Shafeeq Ladha, Pascal Laforêt, Eugen Mengel, Alan Pestronk, Jean Pouget, Benedikt Schoser, Volker Straub, Jaya Trivedi, Philip Van Damme, John Vissing, Peter Young, Katherine Kacena, Raheel Shafi, Beth L. Thurberg, Kerry Culm-Merdek, Ans T. van der Ploeg - Neuromuscular Disorders 2018 被引用: 90
- Defining SOD1 ALS natural history to guide therapeutic clinical trial design
著者: Taha Bali, Wade Self, Jingxia Liu, Teepu Siddique, Leo H. Wang, Thomas D. Bird, Elena Ratti, Nazem Atassi, Khrista Boylan, Jonathan D. Glass, Nicholas J. Maragakis, James B. Caress, Leo McCluskey, Stanley H. Appel, James Wymer, Summer Gibson, Lorne Zinman, Tahseen Mozaffar, Brian C. Callaghan, April McVey, Jennifer Jockel‐Balsarotti, Peggy Allred, Elena R. Fisher, Glenn Lopate, Alan Pestronk, Merit Cudkowicz, Timothy M. Miller - Journal of Neurology Neurosurgery & Psychiatry 2016 被引用: 90
- TDP‐43 A315T mutation in familial motor neuron disease
著者: Michael A. Gitcho, Robert H. Baloh, Sumi Chakraverty, Kevin H. Mayo, Joanne Norton, Denise Levitch, Kimmo J. Hatanpaa, Charles L. White, Eileen H. Bigio, Richard J. Caselli, Matt Baker, Muhammad Al‐Lozi, John C. Morris, Alan Pestronk, Rosa Rademakers, Alison Goate, Nigel J. Cairns - Annals of Neurology 2008 被引用: 610
- TREM2Variant p.R47H as a Risk Factor for Sporadic Amyotrophic Lateral Sclerosis
著者: Janet Cady, Erica Koval, Bruno A. Benítez, Craig M. Zaidman, Jennifer Jockel‐Balsarotti, Peggy Allred, Robert H. Baloh, John Ravits, Ericka Simpson, Stanley H. Appel, Alan Pestronk, Alison Goate, Timothy M. Miller, Carlos Cruchaga, Matthew B. Harms - JAMA Neurology 2014 被引用: 263
- A Genome-Wide Association Study of Myasthenia Gravis
著者: Alan E. Renton, Hannah A. Pliner, Carlo Provenzano, Amelia Evoli, Roberta Ricciardi, Michael A. Nalls, Giuseppe Marangi, Yevgeniya Abramzon, Sampath Arepalli, Sean Chong, Dena Hernández, Janel O. Johnson, Emanuela Bartoccioni, Flavia Scuderi, Michelangelo Maestri, J. Raphael Gibbs, Edoardo Errichiello, Adriano Chiò, Gabriella Restagno, Mario Sabatelli, Mark D. Macek, Sonja W. Scholz, Andrea M. Corse, Vinay Chaudhry, Michael Benatar, Richard J. Barohn, April McVey, Mamatha Pasnoor, Mazen M. Dimachkie, Julie Rowin, John T. Kissel, Miriam Freimer, Henry J. Kaminski, Donald B. Sanders, Bernadette Lipscomb, Janice M. Massey, Manisha Chopra, James F. Howard, Wilma J. Koopman, Michael Nicolle, Robert M. Pascuzzi, Alan Pestronk, Charlie Wulf, Julaine Florence, Derrick Blackmore, Aimee Soloway, Zaeem A. Siddiqi, Srikanth Muppidi, Gil I. Wolfe, David P. Richman, Michelle M. Mezei, Theresa Jiwa, Joël Oger, Daniel B. Drachman, Bryan J. Traynor - JAMA Neurology 2015 被引用: 221
- Cryptogenic small‐fiber neuropathies: Serum autoantibody binding to trisulfated heparan disaccharide and fibroblast growth factor receptor‐3
著者: Todd Levine, Jafar Kafaie, Lawrence A. Zeidman, David Saperstein, Reyanna Massaquoi, Ruth J. Bland, Alan Pestronk - Muscle & Nerve 2019 被引用: 62
- Altered Axonal Mitochondrial Transport in the Pathogenesis of Charcot-Marie-Tooth Disease from Mitofusin 2 Mutations
著者: Robert H. Baloh, Robert E. Schmidt, Alan Pestronk, Jeffrey Milbrandt - Journal of Neuroscience 2007 被引用: 452
