Dynactin-1 mediates rescue of impaired axonal transport due to reduced mitochondrial bioenergetics in amyotrophic lateral sclerosis motor neurons
Dafinca R. et al, (2024), Brain Communications
Cellular and axonal transport phenotypes due to the C9ORF72 HRE in iPSC motor and sensory neurons
Scaber J. et al, (2024), Stem Cell Reports, 19, 957 - 972
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
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