ArticleMuscle & nerve2016
Cortical hyperexcitability in patients with C9ORF72 mutations: Relationship to phenotype.
Article in Muscle & nerve, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
23 citing papers in PubMed, 33 citations in OpenAlex.
- Effects of mexiletine on hyperexcitability in sporadic amyotrophic lateral sclerosis: Preliminary findings from a small phase II randomized controlled trial.Muscle & nerve · 2021Trial
- Neuronal activity-dependent gene dysregulation inAmerican journal of physiology. Cell physiology · 2025Article
- Aberrant axon initial segment plasticity and intrinsic excitability of ALS hiPSC motor neurons.Cell reports · 2023Article
- Article
- Modulation of spontaneous motor unit potentials by a new motor cortical magnetic stimulation method in amyotrophic lateral sclerosis.Journal of neurology · 2022Article
- Phase separation of low-complexity domains in cellular function and disease.Experimental & molecular medicine · 2022Review
- Considerations for Amyotrophic Lateral Sclerosis (ALS) Clinical Trial Design.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2022Review
- Poly-dipeptides produced fromProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Breakdown of the central synapses in C9orf72-linked ALS/FTD.Frontiers in molecular neuroscience · 2022Review
- RNA Editing: A New Therapeutic Target in Amyotrophic Lateral Sclerosis and Other Neurological Diseases.International journal of molecular sciences · 2021Review
- Altered network properties in C9ORF72 repeat expansion cortical neurons are due to synaptic dysfunction.Molecular neurodegeneration · 2021Article
- Emerging Mechanisms Underpinning Neurophysiological Impairments inFrontiers in cellular neuroscience · 2021Review
- On the Use of TMS to Investigate the Pathophysiology of Neurodegenerative Diseases.Frontiers in neurology · 2020Review
- The Electrophysiological Determinants of Corticospinal Motor Neuron Vulnerability in ALS.Frontiers in molecular neuroscience · 2020Article
- TheMolecular and cellular biology · 2018Article
- C9orf72-mediated ALS and FTD: multiple pathways to disease.Nature reviews. Neurology · 2018Review
- C9orf72 Dipeptide Repeats Cause Selective Neurodegeneration and Cell-Autonomous Excitotoxicity inThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2018Article
- Synaptic dysfunction and altered excitability in C9ORF72 ALS/FTD.Brain research · 2018Review
- Insights into C9ORF72-Related ALS/FTD from Drosophila and iPSC Models.Trends in neurosciences · 2018Review
- Biomarkers for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Associated With Hexanucleotide Expansion Mutations inFrontiers in neurology · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
introductionPatients with mutations in C9orf72 can have amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), or ALS-FTD. The goals were to establish whether cortical hyperexcitability occurs in C9orf72 patients with different clinical presentations.
methodsCortical thresholds and silent periods were measured in thenar muscles in 19 participants with C9orf72 expansions and 21 healthy controls using transcranial magnetic stimulation (TMS). El Escorial and Rascovsky criteria were used to diagnose ALS and FTD. Fourteen participants with C9orf72 expansions were re-tested 6 months later. Correlations with finger-tapping speed, timed peg test, the ALS functional rating scale, and Dementia Rating Scale were examined.
resultsMost participants with C9orf72 expansions had normal or low cortical thresholds. Among them, ALS patients had the lowest thresholds and significantly shorter silent periods. Thresholds correlated with timed peg-test scores. TMS did not correlate with the Dementia Rating Scale.
conclusionsTMS measures of cortical excitability may serve as noninvasive biomarkers of ALS disease activity. Muscle Nerve, 2016 Muscle Nerve 54: 264-269, 2016.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.