Research & Literature
Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.
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University of Sheffield
Sheffield, United Kingdom
Universität Ulm
Ulm, Germany
Montreal Neurological Institute and Hospital
Montreal, Canada
VIB-KU Leuven Center for Brain & Disease Research
Leuven, Belgium
University Medical Center Utrecht
Utrecht, The Netherlands
University of Oxford
Oxford, United Kingdom
Harvard University
Cambridge, United States
Umeå University
Umeå, Sweden
The University of Sydney
Sydney, Australia
Azienda Ospedaliera Citta' della Salute e della Scienza di Torino
Turin, Italy
References
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Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis.
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SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines.
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Genes 2022; (13(3)) doi:10.3390/genes13030537.
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Comparative Performance of Different Respiratory Test Parameters for Detection of Early Respiratory Insufficiency in Patients With ALS.
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Oropharyngeal Dysphagia as the Main Expression of Amyotrophic Lateral Sclerosis.
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Medicina (Kaunas, Lithuania) 2022; (58(5)) doi:10.3390/medicina58050647.
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Motor neuron, peripheral nerve, and neuromuscular junction disorders.
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Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions.
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Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS.
Miller TM, Cudkowicz ME, Genge A, et al.
The New England journal of medicine 2022; (387(12)):1099-1110 doi:10.1056/NEJMoa2204705.
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Palliative care principles in ALS.
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Handbook of clinical neurology 2023; (191()):139-155 doi:10.1016/B978-0-12-824535-4.00007-0.
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Percutaneous Endoscopic Gastrostomy Placement under NIV in Amyotrophic Lateral Sclerosis with Severe Ventilatory Dysfunction: A Safe and Effective Procedure.
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GE Portuguese journal of gastroenterology 2023; (30(1)):61-67 doi:10.1159/000519926.
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Functional characterization of C21ORF2 association with the NEK1 kinase mutated in human in diseases.
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Life science alliance 2023; (6(7)) doi:10.26508/lsa.202201740.
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Diagnostic delay in amyotrophic lateral sclerosis.
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Guideline "Motor neuron diseases" of the German Society of Neurology (Deutsche Gesellschaft für Neurologie).
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Palliative Care in Amyotrophic Lateral Sclerosis.
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Loss of function of the ALS-associated NEK1 kinase disrupts microtubule homeostasis and nuclear import.
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Evidence-based consensus guidelines for ALS genetic testing and counseling.
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A large-scale comparison of two voice synthesis techniques on intelligibility, naturalness, preferences, and attitudes toward voices banked by individuals with amyotrophic lateral sclerosis.
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Racial disparities in ALS diagnostic delay: a single center's experience and review of potential contributing factors.
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Amyotrophic lateral sclerosis & frontotemporal degeneration 2024; (25(1-2)):112-118 doi:10.1080/21678421.2023.2273361.
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Pharmacokinetics of Edaravone Oral Suspension in Patients With Amyotrophic Lateral Sclerosis.
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Reduced penetrance of gene variants causing amyotrophic lateral sclerosis.
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Dental Management of Patients With Amyotrophic Lateral Sclerosis.
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Human Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children.
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Edaravone Oral Suspension: A Neuroprotective Agent to Treat Amyotrophic Lateral Sclerosis.
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Sodium Phenylbutyrate and Tauroursodeoxycholic Acid: A Story of Hope Turned to Disappointment in Amyotrophic Lateral Sclerosis Treatment.
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Treatment continuity of amyotrophic lateral sclerosis with available riluzole formulations: state of the art and current challenges in a 'real-world' setting.
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ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons.
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A nurse coaching intervention to improve support to individuals living with ALS.
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How the prospect of a clinical trial impacts decision-making for predictive genetic testing in ALS.
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Initiating non-invasive ventilation in patients with Amyotrophic Lateral Sclerosis in The Netherlands: A centralised approach to respiratory care.
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Journal of neuromuscular diseases 2025; (12(3)):372-381 doi:10.1177/22143602251319167.
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TARDBP variants in Taiwanese ALS patients: Genetic spectrum, clinical features, and founder effects.
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Journal of the neurological sciences 2025; (474()):123531 doi:10.1016/j.jns.2025.123531.
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Exploring NEK1 genetic variability in Italian amyotrophic lateral sclerosis patients.
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Real-World Clinical Experience With Sodium Phenylbutyrate and Taurursodiol at a Single Amyotrophic Lateral Sclerosis Center in the United States.
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Emerging roles of primary cilia in the pathogenesis of amyotrophic lateral sclerosis.
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MaveMD: A functional data resource for genomic medicine.
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Recurarization after sugammadex reversal in a patient with amyotrophic lateral sclerosis: Case report.
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Stage-Based Communication Rehabilitation in Amyotrophic Lateral Sclerosis (ALS): A Review of Strategies for Enhancing Quality of Life.
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Archives of internal medicine research 2025; (8(4)):359-371 doi:10.26502/aimr.0230.
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Reasons for and against presymptomatic genetic testing in frontotemporal dementia: a qualitative study.
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High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis.
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Amyotrophic lateral sclerosis and degenerative cervical myelopathy: phenotype-based diagnostic pitfalls, investigative mismatch, and practical clinical reasoning.
Chen D, Shen T, Ren H, Qiu P
Frontiers in neurology 2026; (17()):1901811 doi:10.3389/fneur.2026.1901811.
PMID: 42625715