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List of works by Peter M Andersen

A 50 bp deletion in the SOD1 promoter lowers enzyme expression but is not associated with ALS in Sweden

scholarly article by Caroline Ingre et al published 22 March 2016 in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

scientific article

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

scientific article

A large genome scan for rare CNVs in amyotrophic lateral sclerosis

scientific article

A novel ALS SOD1 C6S mutation with implications for aggregation related toxicity and genetic counseling ⬇️

scientific article published on November 12, 2010

A novel SOD1 splice site mutation associated with familial ALS revealed by SOD activity analysis

scientific article published on 13 August 2010

A novel central motor conduction abnormality in D90A-homozygous patients with amyotrophic lateral sclerosis

scientific article

A rare motor neuron deleterious missense mutation in the DPYSL3 (CRMP4) gene is associated with ALS.

scientific article published on 28 May 2013

A yeast functional screen predicts new candidate ALS disease genes

scientific article published on 7 November 2011

ALS Untangled No. 20: the Deanna protocol

scientific article published on 02 May 2013

ALSOD: The Amyotrophic Lateral Sclerosis Online Database

article

ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics

scientific article published on 16 July 2012

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

scientific article published on 26 February 2006

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

Aggressive familial ALS with unusual brain MRI and a SOD1 gene mutation

scientific article

Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene

scientific article

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

scientific article

Analysis ofFGGYas a risk factor for sporadic amyotrophic lateral sclerosis

article

Angiogenin levels and ANG genotypes: dysregulation in amyotrophic lateral sclerosis

scientific article

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

scientific article published on December 2011

Association of APOE with age at onset of sporadic amyotrophic lateral sclerosis

scientific article published on 25 July 2008

Association of Mutations in TBK1 With Sporadic and Familial Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

scientific article published on 21 November 2016

Association of NFE2L2 and KEAP1 haplotypes with amyotrophic lateral sclerosis.

scientific article published on 8 October 2013

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 study on glutathione S-transferase omega 1 and 2 and familial ALS.

scientific article

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

scientific article

CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency

scientific article published on 5 January 2018

Can lesions to the motor cortex induce amyotrophic lateral sclerosis?

scientific article published on 20 November 2013

Changes in the spinal cord proteome of an amyotrophic lateral sclerosis murine model determined by differential in-gel electrophoresis

scientific article

Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis

scientific article

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

Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis

article

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

scientific article published on 11 October 2011

Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis associated with an I113T SOD1 mutation ⬇️

scientific article published on June 7, 2012

Comprehensive analysis of the mutation spectrum in 301 German ALS families

scientific article published on 12 April 2018

Comprehensive analysis to explain reduced or increased SOD1 enzymatic activity in ALS patients and their relatives

scientific article published on 21 March 2017

Cortical involvement in four cases of primary lateral sclerosis using [(11)C]-flumazenil PET.

scientific article published on 9 February 2007

Corticomotoneuronal dysfunction in ALS patients with different SOD1 mutations

scientific article published on 21 June 2006

Credibility analysis of putative disease-causing genes using bioinformatics

scientific article

D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype

scientific article published in December 2002

DNA sequence analysis of the conserved region around the SOD1 gene locus in recessively inherited ALS.

scientific article published on 9 July 2009

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

scientific article

Diffusion Tensor Imaging in Sporadic and Familial (D90A SOD1) Forms of Amyotrophic Lateral Sclerosis

Disease penetrance in amyotrophic lateral sclerosis associated with mutations in the SOD1 gene

scientific article published on 01 February 2004

Distinct Changes in Synaptic Protein Composition at Neuromuscular Junctions of Extraocular Muscles versus Limb Muscles of ALS Donors ⬇️

scientific article published on February 26, 2013

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

EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans

scientific article published in September 2012

Early onset Parkinsonism associated with an intronic SOD1 mutation ⬇️

scholarly article by Imen Kacem et al published May 2012 in Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders

Effects of Cellular Pathway Disturbances on Misfolded Superoxide Dismutase-1 in Fibroblasts Derived from ALS Patients

scientific article

Existential decision-making in a fatal progressive disease: how much do legal and medical frameworks matter?

scientific article published on 28 December 2017

Expression of wild-type human superoxide dismutase-1 in mice causes amyotrophic lateral sclerosis ⬇️

scientific article published on January 1, 2013

Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD.

scientific article published on 23 February 2015

Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic?

scientific article published in May 2010

Further analysis of KIFAP3 gene in ALS patients from Switzerland and Sweden

scientific article published on 31 January 2017

G127R: A novel SOD1 mutation associated with rapidly evolving ALS and severe pain syndrome

scientific article published in October 2010

Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis

scientific article published on 16 December 2007

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

Genome-wide analysis of single nucleotide polymorphisms uncovers population structure in Northern Europe

scientific article (publication date: 2008)

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 association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis

scientific article published on 28 April 2013

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

scientific article

Genomic landscape of positive natural selection in Northern European populations

scientific article

Glial nuclear aggregates of superoxide dismutase-1 are regularly present in patients with amyotrophic lateral sclerosis ⬇️

scientific article published on February 3, 2011

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

scientific article

Homozygous SMN2 deletion is a protective factor in the Swedish ALS population

scientific article published on 25 January 2012

Hot-spot KIF5A mutations cause familial ALS

Human extraocular muscles in ALS.

scientific article published on 24 February 2010

ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study

scientific journal article

Impact of Amyotrophic Lateral Sclerosis on Slow Tonic Myofiber Composition in Human Extraocular Muscles

scientific article published in July 2017

Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis ⬇️

scientific article published on April 1, 2011

Increased functional connectivity common to symptomatic amyotrophic lateral sclerosis and those at genetic risk

scientific article published in June 2016

Influence of Environment and Lifestyle on Incidence and Progress of Amyotrophic Lateral Sclerosis in A German ALS Population

article

Instability of C154Y variant of aldo-keto reductase 1C3.

scientific article

Intron 7 retention and exon 9 skipping EAAT2 mRNA variants are not associated with amyotrophic lateral sclerosis

article

Is survival improved by the use of NIV and PEG in amyotrophic lateral sclerosis (ALS)? A post-mortem study of 80 ALS patients

scientific article

July 2017 ENCALS statement on edaravone

scientific article

Low autophagy capacity implicated in motor system vulnerability to mutant superoxide dismutase

scientific article published on 25 January 2016

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

scientific article

Minocycline prevents neurotoxicity induced by cerebrospinal fluid from patients with motor neurone disease

scientific article published in April 2002

Minute quantities of misfolded mutant superoxide dismutase-1 cause amyotrophic lateral sclerosis

scientific article

Misfolded SOD1 pathology in sporadic Amyotrophic Lateral Sclerosis

scientific article published in Scientific Reports

Misfolded superoxide dismutase‐1 in CSF from amyotrophic lateral sclerosis patients ⬇️

scientific article published on February 9, 2011

Multicenter validation of CSF neurofilaments as diagnostic biomarkers for ALS

article

Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS.

scientific article published on 16 May 2012

NEK1 mutations in familial amyotrophic lateral sclerosis

scientific article published on 5 March 2016

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

scientific article

Neurofilaments in the diagnosis of motoneuron diseases: a prospective study on 455 patients

scientific article published on 21 August 2015

No GGGGCC-hexanucleotide repeat expansion inC9ORF72in parkinsonism patients in Sweden ⬇️

scientific article published on September 17, 2012

No association between VAPB mutations and familial or sporadic ALS in Sweden, Portugal and Iceland

scientific article

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

scientific article

Novel TARDBP mutations in Nordic ALS patients

scientific article published on 29 March 2012

Novel antibodies reveal inclusions containing non-native SOD1 in sporadic ALS patients

scientific article

Overloading of stable and exclusion of unstable human superoxide dismutase-1 variants in mitochondria of murine amyotrophic lateral sclerosis models

scientific article (publication date: 19 April 2006)

PGC-1 is a male-specific disease modifier of human and experimental amyotrophic lateral sclerosis ⬇️

scientific article published on May 12, 2013

Physical activity and risk of Amyotrophic Lateral Sclerosis in a prospective cohort study

scientific article

Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis

scientific article

Prediagnostic body fat and risk of death from amyotrophic lateral sclerosis: the EPIC cohort

scientific article published on 6 February 2013

Presymptomatic ALS genetic counseling and testing: Experience and recommendations

scientific article published on 18 May 2016

Progressive aphasia as the presenting symptom in a patient with amyotrophic lateral sclerosis with a novel mutation in theOPTNgene ⬇️

scientific article published on January 3, 2013

Proteins That Bind to Misfolded Mutant Superoxide Dismutase-1 in Spinal Cords from Transgenic Amyotrophic Lateral Sclerosis (ALS) Model Mice ⬇️

scientific article published on April 14, 2011

Pyrimethamine decreases levels of SOD1 in leukocytes and cerebrospinal fluid of ALS patients: A phase I pilot study ⬇️

scientific article published on September 17, 2012

Pyrimethamine significantly lowers cerebrospinal fluid Cu/Zn superoxide dismutase in amyotrophic lateral sclerosis patients with SOD1 mutations

scientific article

Randomized, double-blind, placebo-controlled trial of arimoclomol in rapidly progressive SOD1 ALS.

scientific article published on 24 January 2018

Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies

scientific journal article

Reply to van Vught et al.: P413L CHGB as risk factor for ALS.

scientific article published on 29 April 2010

SOD1 gene mutations in ALS patients from British Columbia, Canada: clinical features, neurophysiology and ethical issues in management

scientific article

SOD1 mutations targeting surface hydrogen bonds promote amyotrophic lateral sclerosis without reducing apo-state stability

scientific article published on 26 February 2010

Screening of hypoxia-inducible genes in sporadic ALS

article

Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study

scientific article published on 12 December 2016

Serum microRNAs in patients with genetic amyotrophic lateral sclerosis and pre-manifest mutation carriers

scientific article published on 5 September 2014

Sex-dependent effects of chromogranin B P413L allelic variant as disease modifier in amyotrophic lateral sclerosis

scientific article

Sharing of a conserved haplotype suggests a susceptibility gene for multiple sclerosis at chromosome 17p11.

scientific article published on April 2002

Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes ⬇️

scientific article published on June 1, 2003

Smoking and risk for amyotrophic lateral sclerosis: analysis of the EPIC cohort

scientific article published in April 2009

Soluble misfolded subfractions of mutant superoxide dismutase-1s are enriched in spinal cords throughout life in murine ALS models

scholarly article

Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance

scientific article

Structural and kinetic analysis of protein-aggregate strains in vivo using binary epitope mapping

scientific article

Superoxide dismutase in amyotrophic lateral sclerosis patients homozygous for the D90A mutation

scientific article published on 22 August 2009

Superoxide dismutase-1 and other proteins in inclusions from transgenic amyotrophic lateral sclerosis model mice

scientific article published on 19 April 2010

Swedish population substructure revealed by genome-wide single nucleotide polymorphism data

scientific article published in 2011

Systematically perturbed folding patterns of amyotrophic lateral sclerosis (ALS)-associated SOD1 mutants

scientific 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 human G93A SOD1 phenotype closely resembles sporadic amyotrophic lateral sclerosis

scientific article

The modulation of Amyotrophic Lateral Sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect

scientific article published on 25 August 2011

Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease

scientific article published on 11 August 2014

Two superoxide dismutase prion strains transmit amyotrophic lateral sclerosis-like disease

scientific article published on 3 May 2016

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

scientific article published in August 2003

Volumetric cortical loss in sporadic and familial amyotrophic lateral sclerosis

Wnt and extraocular muscle sparing in amyotrophic lateral sclerosis

scientific article

pNfH is a promising biomarker for ALS ⬇️

scientific article published on October 22, 2012

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