<i>C9orf72</i> 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

Ruxandra Dafinca, Jakub Scaber, Nidaa A. Ababneh, +11

Stem Cells

NeurogenomicsSporadic AlsStem Cells 2016Stress Granule FormationSynaptic Signaling +22

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

Yoshitsugu Aoki, Raquel Manzano, Yi Lee, +19

Brain

Neurodegenerative DiseasesVesicle TraffickingNeurobiology Of DiseaseIntron 1Amyotrophic Lateral Sclerosis +13

Impairment of Mitochondrial Calcium Buffering Links Mutations in C9ORF72 and TARDBP in iPS-Derived Motor Neurons from Patients with ALS/FTD

Ruxandra Dafinca, Paola Barbagallo, Lucy Farrimond, +7

Stem Cell Reports

The diagnostic pathway and prognosis in bulbar-onset amyotrophic lateral sclerosis

Martin R. Turner, Jakub Scaber, John A. Goodfellow, +3

Journal of the Neurological Sciences

Neurodegenerative DiseasesAmyotrophic Lateral SclerosisNeurological DisorderNeurologyNeuroscience +5

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

David F. Gordon, Ruxandra Dafinca, Jakub Scaber, +10

Neurobiology of Disease

Bac Transgenic MiceNeurodegenerative DiseasesAmyotrophic Lateral SclerosisMolecular NeuroscienceStress Granule Dynamics +7

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

Alexander G. Thompson, Elizabeth Gray, Nick Verber, +20

Brain Communications

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

Nidaa A. Ababneh, Jakub Scaber, Rowan Flynn, +8

Human Molecular Genetics

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

Jakub Scaber, Shamsaldeen Ibrahim Saeed, Chikwe Ihekweazu, +3

Eurosurveillance

VaccinationInfluenza B Co-infectionCases.influenza B Co-infectionHealthcare-associated InfectionEpidemiological Dynamic +9

TDP-43 expression in mouse models of amyotrophic lateral sclerosis and spinal muscular atrophy

Bradley J. Turner, Dirk Bäumer, Jakub Scaber, +2

BMC Neuroscience

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

Björn F. Vahsen, Sumedha Nalluru, Georgia R. Morgan, +16

Nature Communications