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Explore the Literature Visualize citation networks across 94 referenced papers

Top Authors

Christopher J. McDermott
University of Sheffield
Leonard H. van den Berg
University Medical Center Utrecht
Adriano Chiò
Azienda Ospedaliera Citta' della Salute e della Scienza di Torino
Philip Van Damme
VIB-KU Leuven Center for Brain & Disease Research
Pamela J. Shaw
University of Sheffield
Peter Munch Andersen
Umeå University
Martin R. Turner
University of Oxford
Angela L. Genge
Montreal Neurological Institute and Hospital
Ammar Al‐Chalabi
King's College London

Top Institutions

Ranked by publications Top 10 institutions
10

Azienda Ospedaliera Citta' della Salute e della Scienza di Torino

Turin, Italy

52 papers

References

References (94)
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    Predictive genetic testing for amyotrophic lateral sclerosis and frontotemporal dementia: genetic counselling considerations.

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    Genetic screening in sporadic ALS and FTD.

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    Atypical Initial Presentation of Painful Muscle Cramps in a Patient with Amyotrophic Lateral Sclerosis: A Case Report and Brief Review of the Literature.

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    Towards a TDP-43-Based Biomarker for ALS and FTLD.

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    Variation in assistive technology use in Motor Neuron Disease according to clinical phenotypes and ALS Functional Rating Scale - Revised Score: A prospective observational study.

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    An Amyotrophic Lateral Sclerosis-Associated Mutant of C21ORF2 Is Stabilized by NEK1-Mediated Hyperphosphorylation and the Inability to Bind FBXO3.

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    High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.

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    Amyotrophic Lateral Sclerosis and Other Motor Neuron Diseases.

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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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    NEK1 mutations and the risk of amyotrophic lateral sclerosis (ALS): a meta-analysis.

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    Diagnostics of Amyotrophic Lateral Sclerosis: Up to Date.

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    Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates.

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    ALS in Finland: Major Genetic Variants and Clinical Characteristics of Patients With and Without the C9orf72 Hexanucleotide Repeat Expansion.

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    SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines.

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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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    Percutaneous Endoscopic Gastrostomy Placement under NIV in Amyotrophic Lateral Sclerosis with Severe Ventilatory Dysfunction: A Safe and Effective Procedure.

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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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    Clinical therapeutics 2023; (45(12)):1251-1258 doi:10.1016/j.clinthera.2023.09.025.

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    Reduced penetrance of gene variants causing amyotrophic lateral sclerosis.

    Douglas AGL, Baralle D

    Journal of medical genetics 2024; (61(3)):294-297 doi:10.1136/jmg-2023-109580.

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    Dental Management of Patients With Amyotrophic Lateral Sclerosis.

    AlMadan N, AlMajed A, AlAbbad M, et al.

    Cureus 2023; (15(12)):e50602 doi:10.7759/cureus.50602.

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    Human Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children.

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    Twin research and human genetics : the official journal of the International Society for Twin Studies 2024; (27(2)):120-127 doi:10.1017/thg.2024.9.

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    Edaravone Oral Suspension: A Neuroprotective Agent to Treat Amyotrophic Lateral Sclerosis.

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    American journal of therapeutics 2024; (31(3)):e258-e267 doi:10.1097/MJT.0000000000001742.

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    Sodium Phenylbutyrate and Tauroursodeoxycholic Acid: A Story of Hope Turned to Disappointment in Amyotrophic Lateral Sclerosis Treatment.

    Ketabforoush A, Faghihi F, Azedi F, et al.

    Clinical drug investigation 2024; (44(7)):495-512 doi:10.1007/s40261-024-01371-1.

    PMID: 38909349
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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.

    Corcia P, Guy N, Pradat PF, et al.

    Amyotrophic lateral sclerosis & frontotemporal degeneration 2025; (26(1-2)):15-21 doi:10.1080/21678421.2024.2375330.

    PMID: 38973130
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    ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons.

    Zelina P, de Ruiter AA, Kolsteeg C, et al.

    Acta neuropathologica communications 2024; (12(1)):144 doi:10.1186/s40478-024-01852-6.

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    A nurse coaching intervention to improve support to individuals living with ALS.

    Walsh S, Simmons Z, Miyamoto S, Geronimo A

    Amyotrophic lateral sclerosis & frontotemporal degeneration 2025; (26(1-2)):22-28 doi:10.1080/21678421.2024.2399154.

    PMID: 39258588
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    Clinical Variant Reclassification in Hereditary Disease Genetic Testing.

    Kobayashi Y, Chen E, Facio FM, et al.

    JAMA network open 2024; (7(11)):e2444526 doi:10.1001/jamanetworkopen.2024.44526.

    PMID: 39504018
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    How the prospect of a clinical trial impacts decision-making for predictive genetic testing in ALS.

    Fontaine M, Horowitz K, Anoja N, et al.

    Amyotrophic lateral sclerosis & frontotemporal degeneration 2025; (26(3-4)):343-351 doi:10.1080/21678421.2024.2423718.

    PMID: 39511709
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    Initiating non-invasive ventilation in patients with Amyotrophic Lateral Sclerosis in The Netherlands: A centralised approach to respiratory care.

    Jaspers Focks RJ, Helleman J, van den Berg LH, et al.

    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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    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.

    Calcagno N, Scirocco E, Clampffer E, et al.

    European journal of neurology 2025; (32(9)):e70360 doi:10.1111/ene.70360.

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    Emerging roles of primary cilia in the pathogenesis of amyotrophic lateral sclerosis.

    Takahashi H, Kasai T, Miyagawa-Hayashino A, Ohara T

    Frontiers in neuroscience 2025; (19()):1688839 doi:10.3389/fnins.2025.1688839.

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    MaveMD: A functional data resource for genomic medicine.

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