List of works by Kevin B Boylan

A yeast functional screen predicts new candidate ALS disease genes

scientific article published on 7 November 2011

Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers

scientific article

Aprataxin (APTX) gene mutations resembling multiple system atrophy

article

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

scientific article published on 05 September 2013

Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers

scientific article published on 2 May 2014

Ataxin-2 repeat-length variation and neurodegeneration

scientific article

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

scientific article published on 11 September 2013

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers

scientific article

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

scientific article

Clinical and electrophysiologic variability in amyotrophic lateral sclerosis within a kindred harboring the C9ORF72 repeat expansion

scientific article published on 4 October 2012

Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis

scientific article

Creation of an open-access, mutation-defined fibroblast resource for neurological disease research

scientific article

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

scientific article

Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene

scientific article

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

scientific article published in March 2018

In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers

scientific article published on 15 May 2017

Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype

scientific article published on 26 July 2012

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

scientific article

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.

scientific article

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis

scientific article

Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.

scientific article published in October 2007

Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 02 May 2013

Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts

scientific article

TARDBP mutations in Parkinson's disease

scientific article

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

scientific article published on 03 January 2014

TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease

scientific article published on 21 June 2013

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

scientific article published on 6 May 2015

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