Search filters

List of works by Diane McKenna-Yasek

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

scientific article published on October 2008

A novel mutation in the spastin gene in a family with spastic paraplegia

scientific article (publication date: 31 May 2002)

Association of UBQLN1 mutation with Brown–Vialetto–Van Laere syndrome but not typical ALS ⬇️

scientific article published on July 3, 2012

Birth order and the genetics of amyotrophic lateral sclerosis

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 two novel loci for dominantly inherited familial amyotrophic lateral sclerosis

scientific article

Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing

scientific article

Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules

scientific article

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

scientific article

Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis

scientific article published on 14 November 2012

Paraoxonase gene mutations in amyotrophic lateral sclerosis

scientific article

Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS ⬇️

scientific article published on October 17, 2010

Paulina is supported by:

About Paulina

Help