Search results (26)
« Back to PublicationsNeurodegenerative disease in C9orf72 repeat expansion carriers: population risk and effect of UNC13A
Journal article
Gao J. et al, (2025), Brain, 148, 3865 - 3871
Dynactin-1 mediates rescue of impaired axonal transport due to reduced mitochondrial bioenergetics in amyotrophic lateral sclerosis motor neurons
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Dafinca R. et al, (2024), Brain Communications, 6
Cellular and axonal transport phenotypes due to the C9ORF72 HRE in iPSC motor and sensory neurons
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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
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Vahsen BF. et al, (2023), Nature Communications, 14
Advantages of routine next‐generation sequencing over standard genetic testing in the amyotrophic lateral sclerosis clinic
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Scaber J. et al, (2023), European Journal of Neurology, 30, 2240 - 2249
Human iPSC co-culture model to investigate the interaction between microglia and motor neurons
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Vahsen BF. et al, (2022), Scientific Reports, 12
Genetic testing in motor neurone disease
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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
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Thompson AG. et al, (2022), Brain Communications, 4
Human stem cell models of neurodegeneration: From basic science of amyotrophic lateral sclerosis to clinical translation
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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
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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
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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
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DAFINCA R. et al, (2020), Stem Cell Reports
Embryonic progenitor pools generate diversity in fine-scale excitatory cortical subnetworks
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Ellender TJ. et al, (2019), Nature Communications, 10
CGAT-core: a python framework for building scalable, reproducible computational biology workflows
Journal article
Cribbs AP. et al, (2019), F1000Research, 8, 377 - 377
CGAT-core: a python framework for building scalable, reproducible computational biology workflows
Journal article
Cribbs AP. et al, (2019), F1000Research, 8, 377 - 377