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List of works by Peter C Sapp

50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis

article

A common haplotype within the PON1 promoter region is associated with sporadic ALS.

scientific article published on October 2008

A large genome scan for rare CNVs in amyotrophic lateral sclerosis

scientific article

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

scientific article published on 19 February 2015

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

scientific article published on 22 October 2014

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients

scientific article published on 22 April 2015

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

scientific article

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

scientific article

Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration

scientific article

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