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Publications

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

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

Human iPSC co-culture model to investigate the interaction between microglia and motor neurons

Vahsen BF. et al, (2022), Scientific Reports, 12

Genetic testing in motor neurone disease

Dharmadasa T. et al, (2022), Practical Neurology, 22, 107 - 116

Multicentre appraisal of amyotrophic lateral sclerosis biofluid biomarkers shows primacy of blood neurofilament light chain

Thompson AG. et al, (2022), Brain Communications, 4

Human stem cell models of neurodegeneration: From basic science of amyotrophic lateral sclerosis to clinical translation

Giacomelli E. et al, (2022), Cell Stem Cell, 29, 11 - 35

Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome editing using homology-directed repair

Ababneh NA. et al, (2020), Human Molecular Genetics, 29, 2200 - 2217

Two case reports of distal upper limb weakness following influenza-like illness: An emerging pattern of para-infectious myositis in adults

SCABER J. et al, (2020), BMC Neurology

Impairment of mitochondrial calcium buffering links mutations in C9orf72 and TARDBP in iPS-derived motor neurons from patients with ALS/FTD

DAFINCA R. et al, (2020), Stem Cell Reports

Embryonic progenitor pools generate diversity in fine-scale excitatory cortical subnetworks

Ellender TJ. et al, (2019), Nature Communications, 10

CGAT-core: a python framework for building scalable, reproducible computational biology workflows

Cribbs AP. et al, (2019), F1000Research, 8, 377 - 377

CGAT-core: a python framework for building scalable, reproducible computational biology workflows

Cribbs AP. et al, (2019), F1000Research, 8, 377 - 377

Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome editing using homology-directed repair

Ababneh N. et al, (2019)

Single-copy expression of an amyotrophic lateral sclerosis-linked TDP-43 mutation (M337V) in BAC transgenic mice leads to altered stress granule dynamics and progressive motor dysfunction

Gordon D. et al, (2019), Neurobiology of Disease, 121, 148 - 162

Amyotrophic lateral sclerosis: the complex path to precision medicine

Talbot K. et al, (2018), Journal of Neurology, 265, 2454 - 2462

Initial Identification of a Blood-Based Chromosome Conformation Signature for Aiding in the Diagnosis of Amyotrophic Lateral Sclerosis

Salter M. et al, (2018), EBioMedicine, 33, 169 - 184

C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia

Aoki Y. et al, (2017), Brain, 140, 887 - 897

What is the role of TDP-43 inC9orf72-related amyotrophic lateral sclerosis and frontemporal dementia?

Scaber J. and Talbot K., (2016), Brain, 139, 3057 - 3059

C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

Dafinca R. et al, (2016), Stem Cells, 34, 2063 - 2078

Group A streptococcal infections during the seasonal influenza outbreak 2010/11 in South East England.

Scaber J. et al, (2011), Euro Surveill, 16

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