Nicholas E. Johnson

University of Georgia — United States

Neuroscience · Life Sciences

33h-index3.4kcitations196works4.02yr avg
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Research Topics

Genetic Neurodegenerative Diseases(84), Muscle Physiology and Disorders(57), Parkinson's Disease Mechanisms and Treatments(30), Mitochondrial Function and Pathology(29), Neurogenetic and Muscular Disorders Research(23)

Publications195 total

Establishing biomarkers and clinical endpoints in myotonic dystrophy type 1 (END-DM1): Protocol of an international natural history study
PLoS ONE·2025Open Access
Risk of Cardiac Disease in a Population-Based Cohort of Myotonic Dystrophy Type 1 and Type 2 in the United States
Neurology Genetics·2025Open Access
Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular Dystrophy
Neurology·2025· 2 citedOpen Access
287th ENMC international workshop: Harmonization and federated analysis of myotonic dystrophy registries to model heterogeneous disease trajectories. Hoofddorp, the Netherlands, 28–30 March 2025
Neuromuscular Disorders·2025
284th ENMC International Workshop: Cognitive and behavioral abnormalities in pediatric DM1; what should we measure in preparation for clinical trials? Hoofddorp, The Netherlands, January 24-26 2025
Neuromuscular Disorders·2025
Myotonic dystrophy type 1: clinical diversity, molecular insights and therapeutic perspectives
Nature Reviews Neurology·2025· 7 cited
Changes in RNA splicing as a surrogate endpoint for myotonic dystrophy Type 1 (DM1) clinical trials
Journal of Neuromuscular Diseases·2025
Limb-Girdle Muscular Dystrophy Scientific Workshop
Neurology Clinical Practice·2025
Community-based Suicide Interventions in Rural United States: A Scoping Review
Community Mental Health Journal·2025Open Access
Peripheral Neuropathy
Neurology·2025· 4 cited
Elevated Cancer Prevalence Identified at Specific Anatomical Sites Among People With Myotonic Dystrophy Using a Population‐Based Sample
Muscle & Nerve·2025· 2 cited
Pain Experiences and Prescription Pain Medications Among People With Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network
Muscle & Nerve·2025Open Access
Current clinical applications of AAV-mediated gene therapy
Molecular Therapy·2025· 35 citedOpen Access
Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study
Annals of Clinical and Translational Neurology·2025· 1 citedOpen Access
Motor Outcomes to Validate Evaluations in Facioscapulohumeral Muscular Dystrophy (MOVE FSHD): Interim Baseline Data and Potential Predictors for FSHD (S16.005)
Neurology·2025
Strength and functional correlates of reachable workspace in facioscapulohumeral muscular dystrophy
Neuromuscular Disorders·2025Open Access
MicroRNA Expression Profile in Acute Ischemic Stroke
International Journal of Molecular Sciences·2025· 10 citedOpen Access
The Splice Index as a prognostic biomarker of strength and function in myotonic dystrophy type 1
Journal of Clinical Investigation·2025· 13 citedOpen Access
Prospective observational study of <scp>FKRP</scp>‐related limb‐girdle muscular dystrophy <scp>R9</scp>: A <scp>GRASP</scp> consortium study
Annals of Clinical and Translational Neurology·2024· 1 citedOpen Access
Latent factors underlying the symptoms of adult-onset myotonic dystrophy type 1 during the clinical course
Orphanet Journal of Rare Diseases·2024Open Access
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Frequent Co-authors

Chad Heatwole(20), Michael McDermott(11), Nuran Dilek(11), Jeffrey Statland(10), Richard T. Moxley(10), Russell J. Butterfield(8), Elizabeth Luebbe(8), Rabi Tawil(7), William B. Martens(7), Charles A. Thornton(7), Craig Campbell(7), Katy Eichinger(7), James E. Hilbert(6), Man Hung(6), John T. Kissel(5), Valeria Sansone(5), Perry B. Shieh(5), Kiera N. Berggren(5), David N. Herrmann(5), Rita Bode(4)