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Article

Dysregulation of TDP-43 intracellular localization and early onset ALS are associated with a TARDBP S375G variant.

Brain pathology (Zurich, Switzerland) - 1 May 2019

Newell Kathy, Paron Francesca, Mompean Miguel, Murrell Jill, Salis Elisa, Stuani Cristiana, Pattee Gary, Romano Maurizio, Laurents Douglas, Ghetti Bernardino, Buratti Emanuele

Abstract excerpt

We investigated the Central Nervous System (CNS) and skeletal muscle tissue from A woman was clinically diagnosed with amyotrophic lateral sclerosis (ALS) at the age of 22. Neuropathologic evaluation showed upper and lower motor neuron loss, corticospinal tract degeneration and skeletal muscle denervation. Analysis of the patient's Deoxyribonucleic acid (DNA) revealed a AGT>GGT change resulting in an S375G...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 30461104
DOI: 10.1111/bpa.12680
PMCID: PMC6875182

Genes

AGT
TARDBP

Variants

Provenance

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Dysregulation of TDP-43 intracellular localization and early onset ALS are associated with a TARDBP S375G variant.PMID 30461104Read ↗

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