Search filters

List of works by Karen E Morrison

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series

scientific article published on 29 January 2008

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

scientific article

A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS

scientific article published on 25 March 2009

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

scientific article

A multicentre evaluation of oropharyngeal secretion management practices in amyotrophic lateral sclerosis

scientific article published on 31 August 2016

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

scientific article published on 25 June 2018

ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis

scientific article published on 26 February 2006

ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization

scientific article published on 19 May 2020

Alpha-synuclein repeat variants and survival in Parkinson's disease

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 European case-control studies suggests that common inherited variation in mitochondrial DNA is not involved in susceptibility to amyotrophic lateral sclerosis

scientific article published on 13 March 2012

Association of Body Mass Index and Parkinson Disease

scientific article published on 13 August 2024

Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort

scientific article published on 22 September 2018

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

scientific article published on 31 May 2016

Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS

article

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

scientific article

C9orf72 expansion differentially affects males with spinal onset amyotrophic lateral sclerosis

scientific article published on 23 September 2016

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 15 April 2016

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

Chronic inflammatory demyelinating polyneuropathy presenting with headache and papilledema

scientific article published on 01 April 1999

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

scientific article published on 10 December 2021

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

Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation.

scientific article published in November 1997

Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data

scientific article

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

scientific article

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.

scientific article

EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force

scientific article published on 14 September 2011

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

scientific article published on 22 October 2014

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

scientific article

Genetic testing - to screen or not to screen.

scientific article

Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy

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

Goodpasture syndrome. Localization of the epitope for the autoantibodies to the carboxyl-terminal region of the alpha 3(IV) chain of basement membrane collagen ⬇️

scientific article published on December 15, 1991

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

scientific article published on 11 October 2012

High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5 ⬇️

scientific article published on March 1, 1992

Homozygosity analysis in amyotrophic lateral sclerosis

scientific article published on 24 April 2013

Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology

scientific article published on 01 December 2019

Increased serum ferritin levels in amyotrophic lateral sclerosis (ALS) patients

scientific article published on 18 July 2008

Investigation of c9orf72 in 4 neurodegenerative disorders

scientific article published on December 2012

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

scientific article

Large-scale pathways-based association study in amyotrophic lateral sclerosis

scientific article

Large-scale replication and heterogeneity in Parkinson disease genetic loci

scientific article

Management of sialorrhoea in motor neuron disease: a survey of current UK practice.

scientific article published on 07 May 2013

Mechanisms in motor neurone disease: clues from genetic studies ⬇️

scientific article published on July 1, 1995

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

scientific article published on 26 March 2021

Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis

scientific article published on 01 February 2019

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

scientific article

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

scientific article

No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders

article

No evidence of association between apolipoprotein E genotype and phenotypic severity in childhood onset proximal spinal muscular atrophy

scientific article published on 01 October 1999

Novel GCH1 variant in Dopa-responsive dystonia and Parkinson's disease.

scientific article

Polymorphisms in the glutamate transporter gene EAAT2 in European ALS patients

scientific article published on 01 December 1999

Prenatal prediction of spinal muscular atrophy ⬇️

scientific article published on March 1, 1992

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

Protocol for a double-blind randomised placebo-controlled trial of lithium carbonate in patients with amyotrophic lateral sclerosis (LiCALS) [Eudract number: 2008-006891-31].

scientific article

Protocol for diaphragm pacing in patients with respiratory muscle weakness due to motor neurone disease (DiPALS): a randomised controlled trial.

scientific article

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

scientific article published on September 2016

Reconsidering the causality of TIA1 mutations in ALS.

scientific article published on 13 December 2017

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

scientific article published on 12 April 2013

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

scientific article published on 28 January 2022

Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease

scientific article published on 06 September 2012

Systematic review and meta-analysis of hydrocarbon exposure and the risk of Parkinson's disease.

scientific article published on 26 December 2014

TDP-43 gene analysis in frontotemporal lobar degeneration

article

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 effects of two polymorphisms on p21cip1 function and their association with Alzheimer's disease in a population of European descent

scientific article published on 27 January 2015

The personal experience of partners of individuals with motor neuron disease ⬇️

scientific article published on September 14, 2012

The use of complementary and alternative medicine by patients attending a UK headache clinic ⬇️

scientific article published on June 30, 2010

Therapies in amyotrophic lateral sclerosis-beyond riluzole.

scientific article

Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA)

scientific article published on 01 September 1993

Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration

scientific article published on 12 February 2009

VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death

scientific article published in August 2003

Whole-Genome Sequencing Informs Treatment: Personalized Medicine Takes Another Step Forward ⬇️

scientific article published on September 28, 2011

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

Paulina is supported by:

About Paulina

Help