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Publications

Venous thromboembolism risk in amyotrophic lateral sclerosis: a hospital record-linkage study.

Goldacre R. et al, (2024), J Neurol Neurosurg Psychiatry

Dyspnea (breathlessness) in amyotrophic lateral sclerosis/motor neuron disease: prevalence, progression, severity, and correlates.

Young CA. et al, (2024), Amyotroph Lateral Scler Frontotemporal Degener, 1 - 11

Improving the measurement properties of the Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R): deriving a valid measurement total for the calculation of change.

Young CA. et al, (2024), Amyotroph Lateral Scler Frontotemporal Degener, 1 - 10

Mutant GGGGCC RNA prevents YY1 from binding to Fuzzy promoter which stimulates Wnt/β-catenin pathway in C9ALS/FTD.

Chen ZS. et al, (2023), Nat Commun, 14

Data-independent acquisition proteomics of cerebrospinal fluid implicates endoplasmic reticulum and inflammatory mechanisms in amyotrophic lateral sclerosis

Dellar E. et al, (2023), Journal of Neurochemistry

C9orf72-ALS human iPSC microglia are pro-inflammatory and toxic to co-cultured motor neurons via MMP9

Vahsen BF. et al, (2023), Nature Communications, 14

PRMT inhibitor promotes SMN2 exon 7 inclusion and synergizes with nusinersen to rescue SMA mice.

Kordala AJ. et al, (2023), EMBO Mol Med

Primary care blood tests show lipid profile changes in pre-symptomatic amyotrophic lateral sclerosis

Thompson AG. et al, (2023), Brain Communications

Aberrant dynein function promotes TDP-43 aggregation and upregulation of p62 in male mice harboring transgenic human TDP-43.

Christoforidou E. et al, (2023), Amyotroph Lateral Scler Frontotemporal Degener, 1 - 10

Advantages of routine next‐generation sequencing over standard genetic testing in the amyotrophic lateral sclerosis clinic

Scaber J. et al, (2023), European Journal of Neurology

Limited value of serum neurofilament light chain in diagnosing amyotrophic lateral sclerosis

Davies JC. et al, (2023), Brain Communications, 5

A survey of current practice in genetic testing in amyotrophic lateral sclerosis in the UK and Republic of Ireland: implications for future planning

De Oliveira HM. et al, (2022), Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1 - 9

Profiling non-coding RNA expression in cerebrospinal fluid of amyotrophic lateral sclerosis patients.

Joilin G. et al, (2022), Ann Med, 54, 3069 - 3078

Creatine kinase and prognosis in amyotrophic lateral sclerosis: a literature review and multi-centre cohort analysis

Gao J. et al, (2022), Journal of Neurology, 269, 5395 - 5404

The impact of age on genetic testing decisions in amyotrophic lateral sclerosis.

Mehta PR. et al, (2022), Brain

Poly(ADP-ribose) promotes toxicity of C9ORF72 arginine-rich dipeptide repeat proteins.

Gao J. et al, (2022), Sci Transl Med, 14

Prevalence of depression in amyotrophic lateral sclerosis/motor neuron disease: multi-attribute ascertainment and trajectories over 30 months.

Young CA. et al, (2022), Amyotroph Lateral Scler Frontotemporal Degener, 1 - 9

Stress granule assembly in vivo is deficient in the CNS of mutant TDP-43 ALS mice.

Dubinski A. et al, (2022), Hum Mol Genet

Targeting phosphoglycerate kinase 1 with terazosin improves motor neuron phenotypes in multiple models of amyotrophic lateral sclerosis.

Chaytow H. et al, (2022), EBioMedicine

Pathological laughter and crying in neurological disorders: recognition and treatment.

Husbands E. and Talbot K., (2022), Pract Neurol

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