Varaico: Literature-Extracted Genetic Variants

Gene:PRPH
Variant:p.R133P
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PRPH

NM_006262.4:p.R133P

Associated Papers

Linking Cell Architecture to Mitochondrial Signaling in Neurodegeneration: The Role of Intermediate Filaments.

Marzetti E et al.

International Journal of Molecular Sciences, 2025

Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.

Bagyinszky E et al.

Cells, 2023

Multiple roles for the cytoskeleton in ALS.

Liu X et al.

Experimental Neurology, 2022

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

Nguyen HP et al.

Trends in Genetics : Tig, 2018

TDP-43 and Cytoskeletal Proteins in ALS.

Oberstadt M et al.

Molecular Neurobiology, 2018

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

Genetics of amyotrophic lateral sclerosis: an update.

Chen S et al.

Molecular Neurodegeneration, 2013

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

C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect.

Ratti A et al.

Neurobiology of Aging, 2012

Peripherin is a subunit of peripheral nerve neurofilaments: implications for differential vulnerability of CNS and peripheral nervous system axons.

Yuan A et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2012

A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient.

Corrado L et al.

Neurobiology of Aging, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."