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Authors whose works are in public domain in at least one jurisdiction

List of works by Aleksey Shatunov

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK

scientific article

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

scientific article

A variant in the HS1-BP3 gene is associated with familial essential tremor

scientific article published on 01 December 2005

ALSgeneScanner: a pipeline for the analysis and interpretation of DNA sequencing data of ALS patients.

scientific article published on 5 March 2019

ATXN2 trinucleotide repeat length correlates with risk of ALS.

scientific article

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

scientific article

An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.

scientific article

An evaluation of a SVA retrotransposon in the FUS promoter as a transcriptional regulator and its association to ALS

scientific article

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study

scientific article

Analysis of the hexanucleotide repeat expansion and founder haplotype at C9ORF72 in an Irish psychosis case-control sample

scientific article

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

scientific article published in October 2021

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

scientific article published on 31 May 2016

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scientific article

C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis

scientific article

Chromosome 9 ALS and FTD locus is probably derived from a single founder

scientific article published on 16 September 2011

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

scientific article published on October 2010

Clinical and myopathological characteristics of desminopathy caused by a mutation in desmin tail domain

scientific article published on 5 October 2012

Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy

scientific article published on 14 June 2011

Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study

scientific article published on 3 February 2012

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

preprint

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scholarly article

Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies

scientific article published on 01 April 2007

DNAscan: personal computer compatible NGS analysis, annotation and visualisation

scientific article published on 27 April 2019

Detection of long repeat expansions from PCR-free whole-genome sequence data

scientific article

Development of a Smartphone App for a Genetics Website: The Amyotrophic Lateral Sclerosis Online Genetics Database (ALSoD).

scientific article

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins

scientific article published on 3 April 2006

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

scientific article published on 25 November 2019

Genetic ablation of phospholipase C delta 1 increases survival in SOD1(G93A) mice

scientific article

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

scientific article published on 25 July 2016

Genome-wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy

scientific article published on 06 May 2019

Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation

scientific article

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

scientific article published on 11 October 2012

Homozygosity analysis in amyotrophic lateral sclerosis

scientific article published on 24 April 2013

Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations.

scientific article published in March 2004

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy

scientific article published on 03 December 2008

Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study

scientific article

Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis.

scientific article published on 20 December 2014

Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases

scholarly article by Jason A Chen published in August 2018

Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.

scientific article

Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders

scientific article published on 26 March 2021

Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials

scientific article published on 4 October 2017

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

scientific article

No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis

scientific article

Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene.

scientific article published on 05 April 2007

Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations.

scientific article published on March 2003

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis

scientific article published on September 2016

Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat

scientific article published on 12 April 2013

Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease

scientific article published on 01 December 2004

Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy

scientific article published on 01 September 2002

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

scientific article published on 28 January 2022

T cell receptor profiling in muscle and blood lymphocytes in sporadic inclusion body myositis

scientific article published on 01 October 2007

Telomere length is greater in ALS than in controls: a whole genome sequencing study

scientific article published on 01 April 2019

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

scientific article

The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation.

scientific article

The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease

scientific article

Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias

scientific article published on 30 September 2018

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