Pestronk, Alan

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

Watts, G. D. J., Wymer, J., Kovach, M. J., Mehta, S. G., Mumm, S., Darvish, D., Pestronk, A., Whyte, M. P., & Kimonis, V. E. (2004) · Nature Genetics

Genetic Neurodegenerative DiseasesAmyotrophic Lateral Sclerosis Research

Cited by 1,391

An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study

Miller, T. M., Pestronk, A., David, W., Rothstein, J., Simpson, E., Appel, S. H., Andres, P. L., Mahoney, K., Allred, P., Alexander, K., et al. (2013) · The Lancet Neurology

Amyotrophic Lateral Sclerosis ResearchNeurogenetic and Muscular Disorders Research

Cited by 617

Phase 1–2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS

Miller, T., Cudkowicz, M., Shaw, P. J., Andersen, P. M., Atassi, N., Bucelli, R. C., Genge, A., Glass, J., Ladha, S., Ludolph, A. L., et al. (2020) · New England Journal of Medicine

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 565

A phase I/IItrial of MYO‐029 in adult subjects with muscular dystrophy

Wagner, K. R., Fleckenstein, J. L., Amato, A. A., Barohn, R. J., Bushby, K., Escolar, D. M., Flanigan, K. M., Pestronk, A., Tawil, R., Wolfe, G. I., et al. (2008) · Annals of Neurology

Muscle Physiology and DisordersNeurogenetic and Muscular Disorders Research

Cited by 481

TREM2 Variant p.R47H as a Risk Factor for Sporadic Amyotrophic Lateral Sclerosis

Cady, J., Koval, E. D., Benitez, B. A., Zaidman, C., Jockel-Balsarotti, J., Allred, P., Baloh, R. H., Ravits, J., Simpson, E., Appel, S. H., et al. (2014) · JAMA Neurology

Amyotrophic Lateral Sclerosis ResearchNeuroinflammation and Neurodegeneration Mechanisms

Cited by 262

Whole-Genome Analysis of Sporadic Amyotrophic Lateral Sclerosis

Dunckley, T., Huentelman, M. J., Craig, D. W., Pearson, J. V., Szelinger, S., Joshipura, K., Halperin, R. F., Stamper, C., Jensen, K. R., Letizia, D., et al. (2007) · New England Journal of Medicine

Amyotrophic Lateral Sclerosis ResearchMultiple Sclerosis Research Studies

Cited by 236

Loss-or gain-of-function mutations in ACOX1 cause axonal loss via different mechanisms

Chung, H.-L., Wangler, M. F., Marcogliese, P. C., Jo, J., Ravenscroft, T. A., Zuo, Z., Duraine, L., Sadeghzadeh, S., Li-Kroeger, D., Schmidt, R. E., et al. (2020) · Neuron

Hereditary Neurological DisordersMetabolism and Genetic Disorders

Cited by 154

Tolerance of high‐dose (3,000 mg/day) coenzyme Q10 in ALS

Ferrante, K. L., Shefner, J., Zhang, H., Betensky, R., O'Brien, M., Yu, H., Fantasia, M., Taft, J., Beal, M. F., Traynor, B., et al. (2005) · Neurology

Coenzyme Q10 studies and effectsAmyotrophic Lateral Sclerosis Research

Cited by 154

CINRG randomized controlled trial of creatine and glutamine in Duchenne muscular dystrophy

Escolar, D. M., Buyse, G., Henricson, E., Leshner, R., Florence, J., Mayhew, J., Tesi‐Rocha, C., Gorni, K., Pasquali, L., Patel, K. M., et al. (2005) · Annals of Neurology

Muscle Physiology and DisordersMuscle metabolism and nutrition

Cited by 107

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles

Bucelli, R. C., Arhzaouy, K., Pestronk, A., Pittman, S. K., Rojas, L., Sue, C. M., Evilä, A., Hackman, P., Udd, B., Harms, M. B., et al. (2015) · Neurology

Muscle Physiology and DisordersAmyotrophic Lateral Sclerosis Research

Cited by 92

Phase II screening trial of lithium carbonate in amyotrophic lateral sclerosis: Examining a more efficient trial design

Miller, R. G., Moore, D. H., Forshew, D. A., Katz, J. S., Barohn, R. J., Valan, M., Bromberg, M. B., Goslin, K. L., Graves, M. C., McCluskey, L. F., et al. (2011) · Neurology

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 70

Sporadic inclusion body myositis: possible pathogenesis inferred from biomarkers.

Weihl, C. C., & Pestronk, A. (2010) · Current Opinion in Neurology

Inflammatory Myopathies and DermatomyositisMuscle Physiology and Disorders

Cited by 51

The muscle protein dysferlin accumulates in the Alzheimer brain

Galvin, J. E., Palamand, D., Strider, J., Milone, M., & Pestronk, A. (2006) · Acta Neuropathologica

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 36