Jakub Scaber

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University of Oxford

United Kingdom

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The pathophysiological role of TDP-43 in amyotrophic lateral sclerosis due to C9orf72 mutations

Open Date: 2013-09-01

Close Date: 2016-08-31

Grant: Close

The pathophysiological role of TDP43 in amyotrophic lateral sclerosis due to C9orf72 mutations

Open Date: 2013-08-31

Close Date: 2016-08-30

Articles (12)

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2025

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2024

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2024

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2023

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2023

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2022

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2022

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2022

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2022

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2020

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2020

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2020

Collaborators (4)

Martin R Turner

University of Oxford

UNITED KINGDOM

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Ruxandra Dafinca

University of Oxford

UNITED KINGDOM

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Alexander Guy Thompson

University of Oxford

UNITED KINGDOM

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ANDREA MALASPINA

Professor of Neurology

UNITED KINGDOM

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Jakub Scaber

Research Interests

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Recent Grants

Articles (12)

Neurodegenerative disease in C9orf72 repeat expansion carriers: population risk and effect of UNC13A

Dynactin-1 mediates rescue of impaired axonal transport due to reduced mitochondrial bioenergetics in amyotrophic lateral sclerosis motor neurons

Cellular and axonal transport phenotypes due to the C9ORF72 HRE in iPSC motor and sensory neurons

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

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

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

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

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

Genetic testing in motor neurone disease.

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

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

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

Collaborators (4)

Martin R Turner

Ruxandra Dafinca

Alexander Guy Thompson

ANDREA MALASPINA

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