Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.Q210H
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FUS

NM_004960.4:p.Q210H

Associated Papers

Single-cell RNA-sequencing reveals early mitochondrial dysfunction unique to motor neurons shared across FUS- and TARDBP-ALS.

Schweingruber C et al.

Nature Communications, 2025

40389397 (PubMed )
Supplement: 41467_2025_59679_MOESM3_ESM.xlsx › FUS_Clinical_Data

ALS Genes in the Genomic Era and their Implications for FTD.

Nguyen HP et al.

Trends in Genetics : Tig, 2018

Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature.

Giannoccaro MP et al.

Journal of Neurology, 2017

Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD).

Lattante S et al.

Trends in Genetics : Tig, 2015

Co-occurrence of the C9ORF72 expansion and a novel GRN mutation in a family with alternative expression of frontotemporal dementia and amyotrophic lateral sclerosis.

Testi S et al.

Journal of Alzheimer's Disease : Jad, 2015

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?

van Blitterswijk M et al.

Current Opinion in Neurology, 2012

FTD and ALS: a tale of two diseases.

Ferrari R et al.

Current Alzheimer Research, 2011

FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands.

Groen EJ et al.

Archives of Neurology, 2010

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