Nusinersen versus sham control in later-onset spinal muscular atrophy E Mercuri, BT Darras, CA Chiriboga, JW Day, C Campbell, AM Connolly, ... New England Journal of Medicine 378 (7), 625-635, 2018 | 1234 | 2018 |
CTCF cis-Regulates Trinucleotide Repeat Instability in an Epigenetic Manner: A Novel Basis for Mutational Hot Spot Determination RT Libby, KA Hagerman, VV Pineda, R Lau, DH Cho, SL Baccam, ... PLoS genetics 4 (11), e1000257, 2008 | 143 | 2008 |
Tissue-and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus JD Cleary, S Tomé, A López Castel, GB Panigrahi, L Foiry, KA Hagerman, ... Nature structural & molecular biology 17 (9), 1079-1087, 2010 | 69 | 2010 |
Effect of CAT or AGG interruptions and CpG methylation on nucleosome assembly upon trinucleotide repeats on spinocerebellar ataxia, type 1 and fragile X syndrome DJ Mulvihill, KN Edamura, KA Hagerman, CE Pearson, YH Wang Journal of Biological Chemistry 280 (6), 4498-4503, 2005 | 58 | 2005 |
Transcriptome alterations in myotonic dystrophy frontal cortex BA Otero, K Poukalov, RP Hildebrandt, CA Thornton, K Jinnai, H Fujimura, ... Cell reports 34 (3), 2021 | 47 | 2021 |
Nusinersen treatment in adults with spinal muscular atrophy T Duong, C Wolford, MP McDermott, CE Macpherson, A Pasternak, ... Neurology: Clinical Practice 11 (3), e317-e327, 2021 | 42 | 2021 |
The impact of pregnancy on myotonic dystrophy: a registry-based study NE Johnson, M Hung, E Nasser, KA Hagerman, W Chen, E Ciafaloni, ... Journal of Neuromuscular Diseases 2 (4), 447-452, 2015 | 36 | 2015 |
The myotonic dystrophy experience: a North American cross‐sectional study KA Hagerman, SJ Howe, CR Heatwole, ... Muscle & nerve 59 (4), 457-464, 2019 | 28 | 2019 |
The ATTCT repeats of spinocerebellar ataxia type 10 display strong nucleosome assembly which is enhanced by repeat interruptions KA Hagerman, H Ruan, KN Edamura, T Matsuura, CE Pearson, YH Wang Gene 434 (1-2), 29-34, 2009 | 16 | 2009 |
Increased EEG theta spectral power in sleep in myotonic dystrophy type 1 J Cheung, C Ruoff, H Moore, KA Hagerman, J Perez, S Sakamuri, ... Journal of Clinical Sleep Medicine 14 (2), 229-235, 2018 | 7 | 2018 |
Brief assessment of cognitive function in myotonic dystrophy: Multicenter longitudinal study using computer‐assisted evaluation GK Deutsch, KA Hagerman, J Sampson, G Dent, J Dekdebrun, DM Parker, ... Muscle & nerve 65 (5), 560-567, 2022 | 4 | 2022 |
Outcome measures for nusinersen efficacy in adults with spinal muscular atrophy (S5. 008) CJJ Yeo, S Simeone, RZ Zhang, K Trautman, B Damron, P Nwe, ... Neurology 92 (15 Supplement), 2019 | 4 | 2019 |
Diagnosis of myotonic dystrophy based on resting state fmri using convolutional neural networks T Kamali, KA Hagerman, JW Day, J Sampson, KO Lim, BA Mueller, ... 2020 42nd Annual International Conference of the IEEE Engineering in …, 2020 | 2 | 2020 |
Patient-Centered Therapy Development for Myotonic Dystrophy: Report of the Myotonic Dystrophy Foundation–Sponsored Workshop S Hesterlee, S Amur, LJ Bain, J Carulli, S Clarke, JW Day, C Gagnon, ... Therapeutic Innovation & Regulatory Science 51 (4), 516-522, 2017 | 2 | 2017 |
Cerebrospinal Fluid Proteomic Changes after Nusinersen in Patients with Spinal Muscular Atrophy M Beaudin, T Kamali, W Tang, KA Hagerman, S Dunaway Young, ... Journal of Clinical Medicine 12 (20), 6696, 2023 | 1 | 2023 |
Cognitive impairment analysis of myotonic dystrophy via weakly supervised classification of neuropsychological features T Kamali, GK Deutsch, KA Hagerman, D Parker, JW Day, JB Sampson, ... 2022 44th Annual International Conference of the IEEE Engineering in …, 2022 | 1 | 2022 |
Exploring Protein Changes in Cerebrospinal Fluid of Spinal Muscular Atrophy Patients Pre-Nusinersen vs. Post-Nusinersen Treatment using Bayesian Machine Learning Algorithms (P1 … T Kamali, K Hagerman, T Duong, D Parker, S Young, W Tang, J Sampson, ... Neurology 98 (18 Supplement), 2022 | 1 | 2022 |
SMA THERAPIES I: P. 176Experience using Spinraza to treat adults with spinal muscular atrophy J Day, C Wolford, C Macpherson, K Hagerman, S Paulose, M Zeineh, ... Neuromuscular Disorders 28, S81, 2018 | | 2018 |
Self-Reported Sleep Features in Myotonic Dystrophies (P5. 438) C Savage, S Crasta, K Hagerman, J Perez, E Leary, E Mignot, J Sampson, ... Neurology 90 (15 Supplement), 2018 | | 2018 |
DETERMINING THE PATHOGENICITY OF NEWLY IDENTIFIED ATP7A VARIANTS USING PRIMARY FIBROBLASTS G Perez-Siles, A Drew, M Ellis, M Kidambi, R Takata, CE Speck-Martins, ... JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM 22 (3), 357-357, 2017 | | 2017 |