P. Andersen

发表

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

Ewout J. N. Groen, J. Haines, M. Pericak-Vance, 2013, Neurobiology of Aging.

Differential corticospinal tract degeneration in homozygous ‘D90A’ SOD-1 ALS and sporadic ALS

M. Catani, A. Simmons, S. Williams, 2011, Journal of Neurology, Neurosurgery & Psychiatry.

EFNS guidelines on the Clinical Management of Amyotrophic Lateral Sclerosis (MALS) – revised report of an EFNS task force

P. Andersen, A. Chiò, O. Hardiman, 2012, European journal of neurology.

ALS patients with mutations in the SOD1 gene have an unique metabolomic profile in the cerebrospinal fluid compared with ALS patients without mutations.

P. Andersen, T. Moritz, S. Marklund, 2012, Molecular genetics and metabolism.

Optimization of procedures for collecting and storing of CSF for studying the metabolome in ALS

P. Andersen, T. Moritz, S. Marklund, 2009, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

P. Andersen, T. Moritz, S. Marklund, 2011, PloS one.

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

D. Hernandez, A. Singleton, K. Fischbeck, 2008, American journal of human genetics.

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

Annelot M. Dekker, Raymond D. Schellevis, P. Visscher, 2017 .

A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany

P. Andersen, A. Birve, Jochen H Weishaupt, 2013, Neurobiology of Aging.

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

P. Andersen, S. Marklund, J. Koistinaho, 2002, Brain : a journal of neurology.

Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis

P. Andersen, A. Ludolph, Jochen H Weishaupt, 2018, medizinische genetik.

Reconsidering the causality of TIA1 mutations in ALS

A. Al-Chalabi, S. Pulit, P. Andersen, 2018, Amyotrophic lateral sclerosis & frontotemporal degeneration.

A Rare Motor Neuron Deleterious Missense Mutation in the DPYSL3 (CRMP4) Gene is Associated with ALS

B. Pettmann, P. Andersen, V. Meininger, 2013, Human mutation.

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

Carl D Langefeld, Aleksey Shatunov, Gabriele Mora, 2013, Neurobiology of Aging.

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

A. Goris, Robert H. Brown, C. Broeckhoven, 2012, Neurobiology of Aging.

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

A. Farmer, P. McGuffin, C. Lewis, 2010, The Lancet Neurology.

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

A. Farmer, P. McGuffin, C. Lewis, 2010, The Lancet Neurology.

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

Ewout J N Groen, Machiel J Zwarts, Fernando Rivadeneira, 2009, Nature Genetics.

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

Frank Baas, Cisca Wijmenga, Lude Franke, 2008, Nature Genetics.

Association of paraoxonase gene cluster polymorphisms with ALS in France, Quebec, and Sweden

P. Andersen, V. Meininger, F. Salachas, 2008, Neurology.

Genetics of sporadic ALS

P. Andersen, 2001, Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases.

Multi-platform mass spectrometry analysis of the CSF and plasma metabolomes of rigorously matched amyotrophic lateral sclerosis, Parkinson's disease and control subjects.

Henrik Antti, Pär Jonsson, Thomas Moritz, 2016, Molecular bioSystems.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, Robert H. Brown, F. Baas, 2016, Nature Genetics.

NEK1 mutations in familial amyotrophic lateral sclerosis.

T. Wieland, T. Meitinger, T. Strom, 2016, Brain : a journal of neurology.

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

Robert H. Brown, A. Al-Chalabi, C. Shaw, 2003, Annals of neurology.

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

P. Andersen, D. Lulé, J. Kassubek, 2015, Journal of Neurology, Neurosurgery & Psychiatry.

Multicenter validation of CSF neurofilaments as diagnostic biomarkers for ALS

P. Andersen, W. Robberecht, F. Salachas, 2016, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis–frontotemporal dementia phenotypes

J. Hardy, A. Goate, R. Caselli, 2006, Journal of Neurology, Neurosurgery & Psychiatry.

NMR analysis of the CSF and plasma metabolome of rigorously matched amyotrophic lateral sclerosis, Parkinson’s disease and control subjects

P. Andersen, L. Forsgren, S. Marklund, 2016, Metabolomics.

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

P. Andersen, J. Julien, G. Rouleau, 2016, Human molecular genetics.

Phenotypes in Swiss Patients with Familial ALS Carrying TARDBP Mutations

P. Andersen, D. Czell, C. Neuwirth, 2013, Neurodegenerative Diseases.

ALSUntangled No. 37: Inosine*

R. Conwit, S. Paganoni, P. Andersen, 2017, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Diffusion tensor imaging in sporadic and familial (D90A SOD1) forms of amyotrophic lateral sclerosis.

M. Catani, A. Simmons, Steven C. R. Williams, 2009, Archives of neurology.

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

E. Riboli, P. Vineis, R. Vermeulen, 2016, European Journal of Epidemiology.

No association of the SOD1 locus and disease susceptibility or phenotype in sporadic ALS

J. Powell, A. Al-Chalabi, C. Shaw, 2004, Neurology.

Superoxide dismutase in CSF from amyotrophic lateral sclerosis patients with and without CuZn-superoxide dismutase mutations.

P. Andersen, L. Forsgren, S. Marklund, 2001, Brain : a journal of neurology.

University of Groningen Mapping of Gene Expression Reveals CYP 27 A 1 as a Susceptibility Gene for Sporadic

Ewout J. N. Groen, S. Horvath, A. Hofman, 2012 .

Commentary: Effects of ALS-associated TANK binding kinase 1 mutations on protein-protein interactions and kinase activity

P. Andersen, A. Ludolph, J. Weishaupt, 2020, Frontiers in Neuroscience.

Comment on “Cutting Edge: Inhibiting TBK1 by Compound II Ameliorates Autoimmune Disease in Mice”

P. Andersen, A. Ludolph, Jochen H Weishaupt, 2016, The Journal of Immunology.

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

P. Andersen, S. Marklund, T. Brännström, 2016, Acta Neuropathologica Communications.

Running title: Genome-wide association study in long QT syndrome

T. Werge, P. Ellinor, S. Priori, 2020 .

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

Andreas C. Themistocleous, T. Wieland, B. Schlotter-Weigel, 2016, American journal of human genetics.

Wnt and extraocular muscle sparing in amyotrophic lateral sclerosis.

P. Andersen, Jing-xia Liu, L. McLoon, 2014, Investigative ophthalmology & visual science.

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

P. Andersen, S. Marklund, G. Wingsle, 2010, Journal of neurochemistry.

Variation in aggregation propensities among ALS-associated variants of SOD1: Correlation to human disease

D. Borchelt, P. Andersen, P. Hart, 2009, Human molecular genetics.

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

P. Andersen, 2006, Current neurology and neuroscience reports.

ALSUntangled 38: L-serine

R. Conwit, J. Licht, P. Andersen, 2017, Amyotrophic lateral sclerosis & frontotemporal degeneration.

CuZn‐Superoxide Dismutase, Extracellular Superoxide Dismutase, and Glutathione Peroxidase in Blood from Individuals Homozygous for Asp90Ala CuZn‐Superoxide Dismutase Mutation

P. Andersen, L. Forsgren, S. Marklund, 1998, Journal of neurochemistry.

Normal Binding and Reactivity of Copper in Mutant Superoxide Dismutase Isolated from Amyotrophic Lateral Sclerosis Patients

P. Andersen, G. Wikander, L. Forsgren, 1997, Journal of neurochemistry.

ALS Untangled No. 20: The Deanna Protocol

R. Conwit, J. Licht, P. Andersen, 2013, Amyotrophic lateral sclerosis & frontotemporal degeneration.

ALSUntangled 15: Coconut Oil

R. Conwit, J. Licht, P. Andersen, 2012, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Neurofilaments in pre-symptomatic ALS and the impact of genotype

P. Andersen, M. Benatar, J. Wuu, 2019, Amyotrophic lateral sclerosis & frontotemporal degeneration.

ALSUntangled No. 36: Accilion

R. Conwit, J. Licht, P. Andersen, 2017, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Motor Neuron Disease in Mice Expressing the Wild Type-Like D90A Mutant Superoxide Dismutase-1

P. Andersen, S. Marklund, P. Jonsson, 2006, Journal of neuropathology and experimental neurology.

Overloading of Stable and Exclusion of Unstable Human Superoxide Dismutase-1 Variants in Mitochondria of Murine Amyotrophic Lateral Sclerosis Models

P. Andersen, S. Marklund, A. Rehnmark, 2006, The Journal of Neuroscience.

CuZn-Superoxide Dismutase in D90A Heterozygotes from Recessive and Dominant ALS Pedigrees

P. Andersen, W. Robberecht, T. Siddique, 2002, Neurobiology of Disease.

ALS patients with SOD1 mutations in Switzerland show very diverse phenotypes and extremely long survival

P. Andersen, A. Birve, S. Marklund, 2011, Journal of Neurology, Neurosurgery & Psychiatry.

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

P. Andersen, A. Birve, S. Marklund, 2016, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Motor system abnormalities in heterozygous relatives of a D90A homozygous CuZn-SOD ALS patient of Finnish extraction

P. Andersen, A. Eisen, Markus Weber, 1999, Journal of the Neurological Sciences.

Cholesterol, Oxysterol, Triglyceride, and Coenzyme Q Homeostasis in ALS. Evidence against the Hypothesis That Elevated 27-Hydroxycholesterol Is a Pathogenic Factor

P. Andersen, Jure Acimovic, P. Parini, 2014, PloS one.

Novel TARDBP mutations in Nordic ALS patients

P. Andersen, C. Graff, O. Tysnes, 2012, Journal of Human Genetics.

The extended haplotype of the microtubule associated protein tau gene is not associated with Pick's disease

S. Lovestone, J. Powell, P. Andersen, 2001, Neuroscience Letters.

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

P. Andersen, S. Marklund, K. Graffmo, 2011, The Journal of Biological Chemistry.

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

P. Andersen, M. de Carvalho, S. Petri, 2019, Aging and disease.

Good practice in the management of amyotrophic lateral sclerosis: Clinical guidelines. An evidence‐based review with good practice points. EALSC Working Group

P. Andersen, O. Hardiman, P. Leigh, 2007, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

The geographical and ethnic distribution of the D90A CuZn-SOD mutation in the Russian Federation.

P. Andersen, S. Marklund, O. Kravchuk, 2001, Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases.

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

P. Andersen, A. Birve, J. Glass, 2017, Amyotrophic lateral sclerosis & frontotemporal degeneration.

External radiation of the parotid glands significantly reduces drooling in patients with motor neurone disease with bulbar paresis

H. Grönberg, P. Andersen, L. Franzén, 2001, Journal of the Neurological Sciences.

The importance of offering early genetic testing in everyone with amyotrophic lateral sclerosis

A. Al-Chalabi, P. Andersen, A. Chiò, 2022, Brain : a journal of neurology.

Is all ALS genetic?

P. Andersen, 2017, Neurology.

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

P. Andersen, A. Birve, J. Glass, 2011, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

De novo mutations in SOD1 are a cause of ALS

P. Andersen, A. Ludolph, Young-Eun Kim, 2021, Journal of Neurology, Neurosurgery, and Psychiatry.

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

P. Andersen, S. Marklund, K. Forsberg, 2011, Acta Neuropathologica.

C9orf72 and UNC13A are shared risk loci for ALS and FTD: A genome-wide meta-analysis

A. Hofman, A. Uitterlinden, Robert H. Brown, 2014 .

Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis

P. Andersen, A. Birve, L. H. van den Berg, 2009, Journal of Neurology, Neurosurgery & Psychiatry.

Misfolded SOD1 pathology in sporadic Amyotrophic Lateral Sclerosis

P. Andersen, J. Julien, J. Gilthorpe, 2018, Scientific Reports.

Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients.

P. Andersen, A. Gitler, M. de Carvalho, 2011, Human molecular genetics.

Autoimmunity and ALS: studies on antibodies to acetylcholinesterase in sera

P. Andersen, L. Forsgren, P. Andersen, 1997, Acta neurologica Scandinavica.

The molecular pathogenesis of superoxide dismutase 1-linked ALS is promoted by low oxygen tension

P. Andersen, M. Synofzik, J. Gilthorpe, 2018, bioRxiv.

Misfolded SOD1 inclusions in patients with mutations in C9orf72 and other ALS/FTD-associated genes

B. Pakkenberg, P. Andersen, S. Marklund, 2019, Journal of Neurology, Neurosurgery, and Psychiatry.

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

D. Schoenfeld, P. Andersen, M. Benatar, 2018, Neurology.

The Effect of SMN Gene Dosage on ALS Risk and Disease Severity

M. Eberle, A. Al-Chalabi, P. Andersen, 2021, Annals of neurology.

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

P. Andersen, P. Vourc'h, C. Andres, 2012, European Journal of Human Genetics.

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

P. Andersen, E. Pioro, W. Seltzer, 2003 .

Chapter 8 Genetic Aspects of Amyotrophic Lateral Sclerosis/Motor Neuron Disease

P. Andersen, 2003 .

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

P. Andersen, S. Marklund, D. Lange, 2013, Amyotrophic lateral sclerosis & frontotemporal degeneration.

The genetics of amyotrophic lateral sclerosis (ALS).

P. Andersen, 2004, Supplements to Clinical neurophysiology.

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

Robert H. Brown, P. Andersen, D. Czell, 2017, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Clinical trials in pediatric ALS: a TRICALS feasibility study

A. Albanese, A. Al-Chalabi, P. Andersen, 2022, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Progressive aphasia as the presenting symptom in a patient with amyotrophic lateral sclerosis with a novel mutation in the OPTN gene

P. Andersen, M. Morita, D. Czell, 2013, Amyotrophic lateral sclerosis & frontotemporal degeneration.

FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees

P. Andersen, A. Ludolph, Jochen H Weishaupt, 2021, Neurogenetics.

Truncating mutations in FUS/TLS give rise to a more aggressive ALS‐phenotype than missense mutations: a clinico‐genetic study in Germany

P. Andersen, A. Birve, A. Ludolph, 2013, European journal of neurology.

UNC13A is a modifier of survival in amyotrophic lateral sclerosis

P. Andersen, F. Diekstra, W. Robberecht, 2012, Neurobiology of Aging.

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

P. Andersen, M. Benatar, J. Wuu, 2017, Amyotrophic lateral sclerosis & frontotemporal degeneration.

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

P. Andersen, Jing-xia Liu, F. Pedrosa-Domellöf, 2013, PloS one.

Different impact of ALS on laminin isoforms in human extraocular muscles versus limb muscles.

P. Andersen, Jing-xia Liu, F. Pedrosa-Domellöf, 2011, Investigative ophthalmology & visual science.

ALS and FTD: two sides of the same coin?

P. Andersen, 2013, The Lancet Neurology.

Mutation in C9orf72 changes the boundaries of ALS and FTD

P. Andersen, 2012, The Lancet Neurology.

Neurophysiology of hereditary amyotrophic lateral sclerosis

P. Andersen, H. Stewart, 2004 .

Aggregate-selective antibody attenuates seeded aggregation but not spontaneously evolving disease in SOD1 ALS model mice

P. Andersen, J. Gilthorpe, S. Marklund, 2020, Acta neuropathologica communications.

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

P. Andersen, A. Birve, L. Schöls, 2012, Human molecular genetics.

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

A. Goris, Robert H. Brown, A. Al-Chalabi, 2012, Nature Medicine.

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

R. Krüger, A. Kurz, P. Andersen, 2012, Neurobiology of Disease.

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

P. Andersen, A. Eisen, M. Mezei, 2008, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Genetic factors in the early diagnosis of ALS

P. Andersen, P. Andersen, 2000, Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases.

Composition of Soluble Misfolded Superoxide Dismutase-1 in Murine Models of Amyotrophic Lateral Sclerosis

P. Andersen, S. Marklund, K. Graffmo, 2012, NeuroMolecular Medicine.

Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis

Robert H. Brown, P. Andersen, E. Pioro, 2003 .

Inflammatory profiles relate to survival in subtypes of amyotrophic lateral sclerosis

I. Brandslund, P. Andersen, M. Wirenfeldt, 2020, Neurology: Neuroimmunology & Neuroinflammation.

Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis

E. Aronica, P. Andersen, P. van Damme, 2019, Annals of clinical and translational neurology.

Clinicopathological phenotype of ALS with a novel G72C SOD1 gene mutation mimicking a myopathy

P. Andersen, A. Eisen, I. Mackenzie, 2006, Muscle & nerve.

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

S. Ajroud‐Driss, P. Andersen, A. Ludolph, 2017, Annals of Neurology.

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

P. Andersen, A. Birve, M. Synofzik, 2016, PloS one.

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

P. Andersen, J. Danielsson, Lisa Lang, 2015, Proceedings of the National Academy of Sciences.

Different neuroinflammatory profile in amyotrophic lateral sclerosis and frontotemporal dementia is linked to the clinical phase

K. Fliessbach, A. Danek, J. Kornhuber, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

The human G93A SOD1 phenotype closely resembles sporadic amyotrophic lateral sclerosis

P. Andersen, L. Schöls, M. Synofzik, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

pNfH is a promising biomarker for ALS

C. Shaw, P. Andersen, R. Bowser, 2013, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Phase 1-2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS.

Timothy A. Miller, A. Pestronk, P. Andersen, 2020, The New England journal of medicine.

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

P. Andersen, P. Lichtner, M. Orth, 2018, Human molecular genetics.

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

T. Meitinger, T. Strom, P. Andersen, 2014 .

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

T. Meitinger, T. Strom, P. Andersen, 2014, Brain : a journal of neurology.

Mutant superoxide dismutase aggregates from human spinal cord transmit amyotrophic lateral sclerosis

B. Pakkenberg, P. Andersen, S. Marklund, 2018, Acta Neuropathologica.

Inclusions of amyotrophic lateral sclerosis–linked superoxide dismutase in ventral horns, liver, and kidney

P. Andersen, S. Marklund, O. Gredal, 2008, Annals of neurology.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene in and for Therapeutic

Timothy A. Miller, Denis C. Bauer, Shankaracharya, 2018 .

Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations.

H. Braak, T. Meitinger, P. Andersen, 2019, Brain : a journal of neurology.

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

P. Andersen, S. Blumen, R. Carasso, 2010, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders

J. Burgunder, J. Finsterer, M. Zeviani, 2011, European journal of neurology.

Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis

A. Al-Chalabi, P. Andersen, A. Chiò, 2022, Neurobiology of Aging.

ALSUntangled: Introducing The Table of Evidence

R. Conwit, J. Licht, P. Andersen, 2015, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Hot-spot KIF5A mutations cause familial ALS

H. Braak, T. Meitinger, T. Strom, 2018, Brain : a journal of neurology.

C9orf72 expansion is associated with accelerated decline of respiratory function and decreased survival in amyotrophic lateral sclerosis

P. Andersen, M. de Carvalho, S. Pinto, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

[Familial amyotrophic lateral sclerosis].

P. Andersen, S. Marklund, A. Saarinen, 1996, Duodecim; laaketieteellinen aikakauskirja.

Molecular dynamics analysis of Superoxide Dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression

Timothy A. Miller, R. Dobson, A. Al-Chalabi, 2022, bioRxiv.

NMR analysis of the CSF and plasma metabolome of rigorously matched amyotrophic lateral sclerosis, Parkinson’s disease and control subjects

P. Andersen, L. Forsgren, S. Marklund, 2016, Metabolomics.

Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis

A. Al-Chalabi, P. Andersen, A. Chiò, 2022, Neurobiology of Aging.

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

Robert H. Brown, P. Andersen, E. Pioro, 2003, Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases.

Widespread CNS pathology in amyotrophic lateral sclerosis homozygous for the D90A SOD1 mutation

P. Andersen, S. Marklund, K. Forsberg, 2022, Acta Neuropathologica.

A novel p.Ser108LeufsTer15 SOD1 mutation leading to the formation of a premature stop codon in an apparently sporadic ALS patient: insights into the underlying pathomechanisms

P. Andersen, A. Chiò, G. Mora, 2018, Neurobiology of Aging.

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

John A. Wilson, P. Andersen, T. Holmøy, 2010, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Novel 4‐bp insertion in exon 5 of the CuZn‐superoxide dismutase (SOD1) gene associated with familial amyotrophic lateral sclerosis

P. Andersen, C. Hansen, S. Marklund, 1998 .

The impact of age on genetic testing decisions in amyotrophic lateral sclerosis

A. Al-Chalabi, P. Andersen, O. Hardiman, 2022, Brain : a journal of neurology.

Design of a Randomized, Placebo-Controlled, Phase 3 Trial of Tofersen Initiated in Clinically Presymptomatic SOD1 Variant Carriers: the ATLAS Study

Nita A. Farahany, P. Andersen, M. Benatar, 2022, Neurotherapeutics.

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

P. Andersen, D. Lulé, A. Ludolph, 2017, BMC Palliative Care.

Caregivers’ divergent perspectives on patients’ well-being and attitudes towards hastened death in Germany, Poland and Sweden

P. Andersen, D. Lulé, S. Petri, 2021, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Therapeutic decisions in ALS patients: cross-cultural differences and clinical implications

P. Andersen, D. Lulé, S. Petri, 2018, Journal of Neurology.

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

Berg, S. Newhouse, A. Al-Chalabi, 2019, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Mapping of Gene Expression Reveals CYP27A1 as a Susceptibility Gene for Sporadic ALS

Ewout J. N. Groen, S. Horvath, A. Hofman, 2012, PloS one.

Angiogenin Levels and ANG Genotypes: Dysregulation in Amyotrophic Lateral Sclerosis

P. Andersen, S. Cronin, O. Hardiman, 2010, PloS one.

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

P. Andersen, L. Forsgren, V. Giedraitis, 2002, European Journal of Human Genetics.

The role of de novo mutations in the development of amyotrophic lateral sclerosis

Annelot M. Dekker, Raymond D. Schellevis, S. Pulit, 2017, Human mutation.

A large genome scan for rare CNVs in amyotrophic lateral sclerosis.

Ewout J. N. Groen, A. Hofman, A. Uitterlinden, 2010, Human molecular genetics.

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

T. Wieland, T. Meitinger, T. Strom, 2015, Nature Neuroscience.

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

Ewout J. N. Groen, Annelot M. Dekker, Ross P. Byrne, 2021, Nature Genetics.

Genome-wide study of DNA methylation in Amyotrophic Lateral Sclerosis identifies differentially methylated loci and implicates metabolic, inflammatory and cholesterol pathways

Annelot M. Dekker, Ahmad Al Khleifat, N. Wray, 2021, medRxiv.

Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS

Annelot M. Dekker, N. Wray, A. McRae, 2022, Science Translational Medicine.

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

J. Powell, A. Al-Chalabi, C. Shaw, 2002, Human mutation.

ATXN2 trinucleotide repeat length correlates with risk of ALS

Ashley R. Jones, J. Hardy, Yi-Chung Lee, 2017, Neurobiology of Aging.

Gut microbiota–specific IgA+ B cells traffic to the CNS in active multiple sclerosis

R. Henry, P. Andersen, P. Turnbaugh, 2020, Science Immunology.

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

R. Ophoff, A. Goris, S. Sawcer, 2014, Human molecular genetics.

Credibility Analysis of Putative Disease-Causing Genes Using Bioinformatics

J. Powell, A. Al-Chalabi, P. Andersen, 2013, PloS one.

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

P. Andersen, V. Meininger, J. Bouchard, 2009, Proceedings of the National Academy of Sciences.

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

G. Comi, S. Corti, V. Moskvina, 2014, Human molecular genetics.

A genome-wide association meta-analysis identifies a novel locus at 17 q 11 . 2 associated with sporadic amyotrophic lateral sclerosis

Aleksey, Davide, Moskvina, 2014 .

Amyotrophic Lateral Sclerosis-associated Copper/Zinc Superoxide Dismutase Mutations Preferentially Reduce the Repulsive Charge of the Proteins*

P. Andersen, S. Marklund, M. Oliveberg, 2007, Journal of Biological Chemistry.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, Robert H. Brown, F. Baas, 2016, Nature Genetics.

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

T. Werge, P. Ellinor, S. Priori, 2020, Circulation.

SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed

Ashley R. Jones, G. Breen, A. Al-Chalabi, 2021, Brain communications.

NEK1 loss-of-function mutation induces DNA damage accumulation in ALS patient-derived motoneurons.

P. Andersen, T. Boeckers, A. Ludolph, 2018, Stem cell research.

Comprehensive analysis of the mutation spectrum in 301 German ALS families

S. Klebe, T. Meitinger, T. Strom, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

A yeast functional screen predicts new candidate ALS disease genes

J. Trojanowski, R. Kalb, D. Dickson, 2011, Proceedings of the National Academy of Sciences.

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

Ammar Al-Chalabi, Peter M. Andersen, A. Al-Chalabi, 2011, Nature Reviews Neurology.

Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis

P. Andersen, M. Benatar, J. Wuu, 2011, Genetics in Medicine.

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

S. Ennis, Robert H. Brown, P. Andersen, 2006, Nature Genetics.

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

Denis C. Bauer, Annelot M. Dekker, Ashley R. Jones, 2017, Nature Communications.

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

P. Andersen, A. Birve, A. Ludolph, 2013, Human molecular genetics.

Association study on glutathione S‐transferase omega 1 and 2 and familial ALS

J. Powell, C. Shaw, P. Andersen, 2008, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Peripheral administration of SOD1 aggregates does not transmit pathogenic aggregation to the CNS of SOD1 transgenic mice

P. Andersen, S. Marklund, Isil Keskin, 2021, Acta neuropathologica communications.

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

Olubunmi Abel, Ammar Al-Chalabi, Peter M. Andersen, 2012, Human mutation.

Dysregulation of a novel miR-1825/TBCB/TUBA4A pathway in sporadic and familial ALS

J. Michaelis, P. Andersen, S. Petri, 2018, Cellular and Molecular Life Sciences.

Changes in the Spinal Cord Proteome of an Amyotrophic Lateral Sclerosis Murine Model Determined by Differential In-gel Electrophoresis*

P. Andersen, S. Marklund, H. Antti, 2009, Molecular & Cellular Proteomics.

Disulphide-reduced superoxide dismutase-1 in CNS of transgenic amyotrophic lateral sclerosis models.

P. Andersen, S. Marklund, M. Oliveberg, 2006, Brain : a journal of neurology.

CHAPTER 8Genetics of amyotrophic lateral sclerosis

P. Andersen, W. Robberecht, L. Bosch, 2004 .

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

P. Carmeliet, D. Lambrechts, C. Broeckhoven, 2003, Nature Genetics.

The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1

M. Nolan, P. Andersen, R. Heller, 2023, Brain communications.

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

Ewout J. N. Groen, Annelot M. Dekker, Ross P. Byrne, 2021, Nature Genetics.

Novel Antibodies Reveal Inclusions Containing Non-Native SOD1 in Sporadic ALS Patients

Johan Jacobsson, Peter M. Andersen, Karin Forsberg, 2010, PloS one.

Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients

F. Feuerhake, P. Andersen, S. Petri, 2021, Genes.

Molecular Diagnosis of Neurogenetic Disorders: Motoneuron, Peripheral Nerve and Muscle Disorders

J. Burgunder, J. Finsterer, M. Zeviani, 2011 .

BRAIN LETTER TO THE EDITOR Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease

T. Meitinger, T. Strom, P. Andersen, 2014 .

Two novel mutations in conserved codons indicate that CHCHD 10 is a gene associated with motor neuron disease

T. Meitinger, T. Strom, P. Andersen, 2014 .

SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity

P. Andersen, M. Morita, S. Filipek, 2022, Scientific reports.

Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia.

P. Andersen, L. Forsgren, S. Marklund, 1997, Brain : a journal of neurology.

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

P. Andersen, A. Birve, S. Marklund, 2010, Human molecular genetics.

ALS Untangled No. 17: “When ALS Is Lyme”

R. Conwit, J. Licht, P. Andersen, 2012, Amyotrophic Lateral Sclerosis.

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

P. Andersen, A. Birve, S. Marklund, 2015, Human molecular genetics.

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

R. Ophoff, C. Wijmenga, F. Baas, 2007, The Lancet Neurology.

myosin heavy chain colocalization muscle: force, shortening velocity, and patterns of A continuum of myofibers in adult rabbit extraocular

Mark M G Walton, M. Mustari, P. Andersen, 2015 .

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

P. Andersen, A. Ludolph, Jochen H Weishaupt, 2017, JAMA neurology.

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

K. Blennow, P. Andersen, H. Zetterberg, 2008, Journal of the Neurological Sciences.

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

C. Dieterich, P. Andersen, A. Ludolph, 2014, Brain : a journal of neurology.

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

P. Andersen, M. Benatar, J. Wuu, 2016, Journal of Neurology, Neurosurgery & Psychiatry.

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

Edwin Cuppen, Christine Klein, Dagmar Verbaan, 2011, Annals of neurology.

Neurofilament light: A candidate biomarker of presymptomatic amyotrophic lateral sclerosis and phenoconversion

P. Andersen, M. Benatar, J. Wuu, 2018, Annals of neurology.

Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia

P. Andersen, C. Wallgren‐Pettersson, P. Sistonen, 2000, European Journal of Human Genetics.

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

P. Andersen, Markus Weber, C. Neuwirth, 2017, PloS one.

Preventing amyotrophic lateral sclerosis: insights from pre-symptomatic neurodegenerative diseases

R. Finkel, R. Petersen, B. Boeve, 2021, Brain : a journal of neurology.

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

A. Hofman, A. Uitterlinden, Robert H. Brown, 2014, Annals of neurology.

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

S. Ajroud‐Driss, P. Andersen, A. Ludolph, 2017, Annals of neurology.

An observational study on quality of life and preferences to sustain life in locked-in state

P. Andersen, D. Lulé, A. Ludolph, 2019, Neurology.

ALSUntangled No. 16: Cannabis

R. Conwit, J. Licht, P. Andersen, 2012, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Toxicity of Familial ALS-Linked SOD1 Mutants from Selective Recruitment to Spinal Mitochondria

Ole Gredal, Peter M Andersen, Concepción Lillo, 2004, Neuron.

Neurofilament levels as biomarkers in asymptomatic and symptomatic familial amyotrophic lateral sclerosis

P. Andersen, A. Ludolph, J. Kuhle, 2015, Annals of neurology.

Mild motor impairment as prodromal state in amyotrophic lateral sclerosis: a new diagnostic entity

P. Andersen, M. Benatar, J. Wuu, 2022, Brain : a journal of neurology.

Motor neuron disease beginning with frontotemporal dementia: clinical features and progression

M. Swash, P. Andersen, M. de Carvalho, 2021, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Deficits in verbal fluency in presymptomatic C9orf72 mutation gene carriers—a developmental disorder

P. Andersen, D. Lulé, J. Kassubek, 2020, Journal of Neurology Neurosurgery & Psychiatry.

Determining impairment in the Swedish, Polish and German ECAS: the importance of adjusting for age and education

P. Andersen, D. Lulé, I. Uttner, 2023, Amyotrophic lateral sclerosis & frontotemporal degeneration.

The Swedish motor neuron disease quality registry

P. Andersen, M. Kierkegaard, J. Hillert, 2018, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Clinical characteristics of patients with motor disability due to conversion disorder: a prospective control group study

P. Andersen, G. Kullgren, M. Binzer, 1997, Journal of neurology, neurosurgery, and psychiatry.

Human extraocular muscles in ALS.

Peter M Andersen, Jing-Xia Liu, P. Andersen, 2010, Investigative ophthalmology & visual science.

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

Michelle K. Lupton, T. Hortobágyi, Robert H. Brown, 2012, European Journal of Human Genetics.

Abnormal cortical excitability in sporadic but not homozygous D90A SOD1 ALS

A Al-Chalabi, D J Brooks, D. Brooks, 2005, Journal of Neurology, Neurosurgery & Psychiatry.

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

P. Andersen, P. Leigh, M. Turner, 2004, Muscle & nerve.

Distinct cerebral lesions in sporadic and 'D90A' SOD1 ALS: studies with [11C]flumazenil PET.

A Al-Chalabi, D J Brooks, D. Brooks, 2005, Brain : a journal of neurology.

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

P. Andersen, A. Birve, M. de Carvalho, 2013, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Impact of comorbidities and co-medication on disease onset and progression in a large German ALS patient group

P. Andersen, M. Carvalho, S. Petri, 2020, Journal of Neurology.

Can lesions to the motor cortex induce amyotrophic lateral sclerosis?

H. Huppertz, P. Andersen, J. Kassubek, 2014, Journal of Neurology.

Prediagnostic body fat and risk of death from amyotrophic lateral sclerosis

F. Clavel-Chapelon, E. Riboli, P. Vineis, 2013, Neurology.

SOD1 Mutations Targeting Surface Hydrogen Bonds Promote Amyotrophic Lateral Sclerosis without Reducing Apo-state Stability*

P. Andersen, M. Oliveberg, G. Gröbner, 2010, The Journal of Biological Chemistry.

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

P. Andersen, S. Marklund, M. Oliveberg, 2007, Proceedings of the National Academy of Sciences.

Age at onset in sod1-mediated amyotrophic lateral sclerosis shows familiality

P. Sham, B. Neale, Robert H. Brown, 2007, Neurogenetics.

Corticomotoneuronal dysfunction in ALS patients with different SOD1 mutations

P. Andersen, A. Eisen, Markus Weber, 2006, Clinical Neurophysiology.

Rapid disease progression correlates with instability of mutant SOD1 in familial ALS

M Nakagawa, A Shimizu, S Sakoda, 2005, Neurology.

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

Peter M Andersen, P. Andersen, M. Oliveberg, 2005, Proceedings of the National Academy of Sciences of the United States of America.

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

P. Andersen, S. Marklund, O. Gredal, 2004, Brain : a journal of neurology.

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

P. Andersen, S. Marklund, T. Brännström, 2016, The Journal of clinical investigation.

Putative founder effect in the Polish, Iranian and United States populations for the L144S SOD1 mutation associated with slowly uniform phenotype of amyotrophic lateral sclerosis

P. Andersen, M. Morita, E. Elahi, 2020, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients.

P. Andersen, L. Forsgren, S. Marklund, 1996, Brain : a journal of neurology.

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

C. van Broeckhoven, C. Shaw, P. Andersen, 2014, Journal of Medical Genetics.

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

P. Andersen, S. Marklund, S. Woolley, 2012, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

PEX11β and FIS1 cooperate in peroxisome division independently of mitochondrial fission factor

P. Andersen, M. Schrader, Jochen H Weishaupt, 2022, Journal of cell science.

Association of NFE2L2 and KEAP1 haplotypes with amyotrophic lateral sclerosis

P. Andersen, H. Zetterberg, O. Hammarsten, 2014, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Integrative genetic analysis illuminates ALS heritability and identifies risk genes

P. Andersen, A. Chiò, J. Veldink, 2023, Nature communications.

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

P. Andersen, O. El-Kabbani, A. Ludolph, 2017, Chemico-biological interactions.

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

P. Andersen, S. Marklund, Eiichi Tokuda, 2016, Acta neuropathologica communications.

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

P. Andersen, A. Birve, S. Marklund, 2013, Human molecular genetics.

Composition of Soluble Misfolded Superoxide Dismutase-1 in Murine Models of Amyotrophic Lateral Sclerosis

P. Andersen, S. Marklund, K. Graffmo, 2013, NeuroMolecular Medicine.

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

P. Andersen, S. Marklund, P. Jonsson, 2009, Neurobiology of Disease.

ALSOD: The Amyotrophic Lateral Sclerosis Online Database

Ammar Al-Chalabi, Peter M. Andersen, J. Powell, 2008, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Manganese‐containing superoxide dismutase signal sequence polymorphism associated with sporadic motor neuron disease

P. Andersen, G. Beckman, L. Beckman, 1999, European journal of neurology.

ALSUntangled No. 26: Lunasin

R. Conwit, J. Licht, P. Andersen, 2014, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Frequency of C9orf72 and SOD1 mutations in 302 sporadic ALS patients from three German ALS centers

P. Andersen, Jochen H Weishaupt, J. Wolf, 2023, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase

P. Andersen, L. Forsgren, S. Marklund, 1995, Nature Genetics.

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

Olubunmi Abel, Ammar Al-Chalabi, Aleksey Shatunov, 2013, JMIR mHealth and uHealth.

Respiratory onset of amyotrophic lateral sclerosis in a pregnant woman with a novel SOD1 mutation

P. Andersen, P. van Damme, T. Moens, 2022, European journal of neurology.

July 2017 ENCALS statement on edaravone

A. Al-Chalabi, P. Andersen, A. Chiò, 2017, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Phenotype in an Infant with SOD1 Homozygous Truncating Mutation.

P. Andersen, S. Marklund, M. Hempel, 2019, The New England journal of medicine.

Frequency of C9orf72 hexanucleotide repeat expansion and SOD1 mutations in Portuguese patients with amyotrophic lateral sclerosis

P. Andersen, M. de Carvalho, S. Pinto, 2018, Neurobiology of Aging.

A serum microRNA sequence reveals fragile X protein pathology in amyotrophic lateral sclerosis

P. Oefner, E. Aronica, P. Andersen, 2021, Brain : a journal of neurology.

Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world

P. Andersen, C. Gellera, M. Savontaus, 2001, European Journal of Human Genetics.

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

Sandra D'Alfonso, Adriano Chiò, Aleksey Shatunov, 2016, JAMA neurology.

Targeted Multiple Reaction Monitoring Analysis of CSF Identifies UCHL1 and GPNMB as Candidate Biomarkers for ALS

P. Andersen, L. Forsgren, T. Moritz, 2019, Journal of Molecular Neuroscience.

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

P. Andersen, J. Julien, G. Rouleau, 2010, Proceedings of the National Academy of Sciences.

Neurofilaments can differentiate ALS subgroups and ALS from common diagnostic mimics

K. Blennow, P. Andersen, H. Zetterberg, 2021, Scientific Reports.

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

F. Clavel-Chapelon, E. Riboli, P. Vineis, 2009, Annals of neurology.

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

Liangdan Sun, X. Zuo, A. Al-Chalabi, 2013, Nature Genetics.

Diffusion Tensor Imaging in Sporadic and Familial ( D 90 A SOD 1 ) Forms of Amyotrophic Lateral Sclerosis

M. Catani, A. Simmons, Steven C. R. Williams, 2008 .

Quality of life and depression in patients with amyotrophic lateral sclerosis – does the country of origin matter?

P. Andersen, D. Lulé, M. Bielecki, 2023, BMC Palliative Care.

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

D. Brooks, A. Al-Chalabi, C. Shaw, 2007, Journal of Neurology.

Genotypes of amyotrophic lateral sclerosis in Mongolia

P. Andersen, A. Ludolph, A. Rosenbohm, 2019, Journal of Neurology, Neurosurgery, and Psychiatry.

Early onset Parkinsonism associated with an intronic SOD1 mutation

P. Andersen, P. Couratier, B. Funalot, 2012, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

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

P. Andersen, A. Ludolph, G. Rouleau, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

Analysis of FGGY as a risk factor for sporadic amyotrophic lateral sclerosis

R. Ophoff, D. Lambrechts, P. Andersen, 2009, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Screening of hypoxia-inducible genes in sporadic ALS

P. Andersen, S. Cronin, O. Hardiman, 2008, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden

P. Andersen, A. Birve, L. Forsgren, 2013, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Volumetric cortical loss in sporadic and familial amyotrophic lateral sclerosis

J. Allsop, D. Brooks, A. Al-Chalabi, 2007, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Live Cell Imaging of ATP Levels Reveals Metabolic Compartmentalization within Motoneurons and Early Metabolic Changes in FUS ALS Motoneurons

Eli R. Zunder, P. Andersen, C. Deppmann, 2023, bioRxiv.

Presymptomatic ALS genetic counseling and testing

P. Andersen, M. Benatar, J. Wuu, 2016, Neurology.

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

C. Nusbaum, C. Russ, Robert H. Brown, 2009, Neuroscience Letters.

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

Adriano Chiò, Gabriella Restagno, Peter M Andersen, 2004, Annals of neurology.

Eye Movements , Strabismus , Amblyopia and Neuro-Ophthalmology Impact of Amyotrophic Lateral Sclerosis on Slow Tonic Myofiber Composition in Human Extraocular Muscles

P. Andersen, Fátima Pedrosa Domellöf, F. Pedrosa Domellöf, 2017 .

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

P. Andersen, S. Marklund, T. Brännström, 2011, Journal of neurochemistry.

CAMTA 1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

Aleksey, C. Lewis, S. Newhouse, 2018 .

Association of a Locus in the CAMTA 1 GeneWith Survival in PatientsWith Sporadic Amyotrophic Lateral Sclerosis

Adriano Chiò, Philip Van Damme, Aleksey Shatunov, 2016 .

Dysregulation of a novel miR-1825/TBCB/TUBA4A pathway in sporadic and familial ALS

J. Michaelis, P. Andersen, S. Petri, 2018, Cellular and Molecular Life Sciences.

Variants in candidate ALS modifier genes linked to Cu/Zn superoxide dismutase do not explain divergent survival phenotypes

P. Andersen, P. Sapp, D. McKenna-Yasek, 2006, Neuroscience Letters.

ALSUntangled No. 34: GM604.

Gary L. Pattee, R. Conwit, J. Licht, 2016, Amyotrophic lateral sclerosis & frontotemporal degeneration.

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

Ewout J. N. Groen, D. Rujescu, S. Corti, 2014, Neurobiology of Aging.

Metabolic alterations precede neurofilament changes in presymptomatic ALS gene carriers

P. Andersen, J. Kassubek, Joachim Schuster, 2023, EBioMedicine.

ALSUntangled No. 29: MitoQ

R. Conwit, J. Licht, P. Andersen, 2015, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Extensive heterogeneity in patients with ALS with mutations in SOD1 in France

P. Andersen, 2021, Journal of Neurology, Neurosurgery, and Psychiatry.

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

A. Al-Chalabi, C. Shaw, P. Andersen, 2013, Neurobiology of Aging.

International Survey of ALS Experts about Critical Questions for Assessing Patients with ALS

P. Andersen, M. de Carvalho, S. Petri, 2017, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Preserved slow conducting corticomotoneuronal projections in amyotrophic lateral sclerosis with autosomal recessive D90A CuZn-superoxide dismutase mutation.

P. Andersen, A. Eisen, H. Stewart, 2000, Brain : a journal of neurology.

Flail arm syndrome: a clinical variant of amyotrophic lateral sclerosis

P. Andersen, A. Steck, A. Czapliński, 2004, European journal of neurology.

Correction to: Design of a Randomized, Placebo-Controlled, Phase 3 Trial of Tofersen Initiated in Clinically Presymptomatic SOD1 Variant Carriers: the ATLAS Study

Nita A. Farahany, P. Andersen, M. Benatar, 2022, Neurotherapeutics.

Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis.

A Al-Chalabi, J. Powell, A. Al-Chalabi, 1999, Human molecular genetics.

Genetic and phenotype analyses of primary lateral sclerosis datasets from international cohorts

Ahmad Al Khleifat, A. Al-Chalabi, C. Shaw, 2023, medRxiv.

Cerebrospinal fluid neurofilament light levels in amyotrophic lateral sclerosis: impact of SOD1 genotype

K. Blennow, P. Andersen, H. Zetterberg, 2007, European journal of neurology.

Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase.

P. Andersen, L. Forsgren, S. Marklund, 1995 .

EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives

P. Andersen, O. Hardiman, P. Leigh, 2005, European journal of neurology.

The physiological basis of conduction slowing in ALS patients homozygous for the D90A CuZn‐SOD mutation

P. Andersen, A. Eisen, Markus Weber, 2001, Muscle & nerve.

Amyotrophic lateral sclerosis-associated copper/zinc superoxide dismutase mutations preferentially reduce the repulsive charge of the proteins

P. Andersen, S. Marklund, M. Oliveberg, 2007 .

Pyrimethamine Significantly Lowers CSF/SOD1 in ALS Patients With SOD1 Mutations

P. Andersen, A. Ludolph, S. Marklund, 2017 .

P4-127 CSF neurofilament light as a diagnostic and prognostic biomarker for amyotrophic lateral sclerosis

K. Blennow, P. Andersen, H. Zetterberg, 2006, Alzheimer's & Dementia.

Unsupervised machine-learning identifies clinically distinct subtypes of ALS that reflect different genetic architectures and biological mechanisms

Ahmad Al Khleifat, A. Al-Chalabi, P. Andersen, 2023, medRxiv.

Validity and reliability measures of the Swedish Karolinska version of the Edinburgh Cognitive and Behavioral ALS Screen (SK-ECAS)

P. Andersen, D. Lulé, J. Pereira, 2023, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Age and founder effect of SOD1 A4V mutation causing ALS

P. Andersen, W. Hung, N. Siddique, 2009, Neurology.

Tau levels do not influence human ALS or motor neuron degeneration in the SOD1G93A mouse

A. Goris, B. Dubois, S. Boonen, 2010, Neurology.

The genetics of amyotrophic lateral sclerosis (ALS).

P. Andersen, 2004, Supplements to Clinical neurophysiology.

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

C. Lewis, J. Powell, A. Al-Chalabi, 2016, Amyotrophic lateral sclerosis & frontotemporal degeneration.

A large genome scan for rare CNVs in amyotrophic lateral sclerosis.

Ewout J. N. Groen, L. Wain, M. Tobin, 2010, Human Molecular Genetics.

Meta-analysis of vascular endothelial growth factor variations in amyotrophic lateral sclerosis: increased susceptibility in male carriers of the −2578AA genotype

G. Comi, P. Carmeliet, D. Lambrechts, 2008, Journal of Medical Genetics.

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

C. Dieterich, P. Andersen, A. Ludolph, 2014, Brain : a journal of neurology.

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

P. D. Bakker, F. Rivadeneira, A. Al-Chalabi, 2014, Annals of neurology.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, Ashley R. Jones, F. Baas, 2016, Nature Genetics.

ALSUntangled No. 36: Accilion

Gary L. Pattee, R. Conwit, J. Licht, 2017, Amyotrophic lateral sclerosis & frontotemporal degeneration.

NEK1 loss-of-function mutation induces DNA damage accumulation in ALS patient-derived motoneurons.

P. Andersen, T. Boeckers, A. Ludolph, 2018, Stem cell research.

Myofiber Type Shift in Extraocular Muscles in Amyotrophic Lateral Sclerosis

P. Andersen, Jing-xia Liu, F. Pedrosa Domellöf, 2023, Investigative ophthalmology & visual science.

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

R. Ophoff, A. Goris, S. Sawcer, 2014, Human molecular genetics.

Genetic variability in sporadic amyotrophic lateral sclerosis

A. Al-Chalabi, P. Andersen, J. Glass, 2023, Brain : a journal of neurology.

Multi-platform mass spectrometry analysis of the CSF and plasma metabolomes of rigorously matched amyotrophic lateral sclerosis, Parkinson's disease and control subjects.

P. Andersen, L. Forsgren, T. Moritz, 2016, Molecular bioSystems.

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

Annelot M. Dekker, Raymond D. Schellevis, Ashley R. Jones, 2016, Nature Genetics.

Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis

A. Al-Chalabi, P. Andersen, A. Chiò, 2022, Neurobiology of Aging.

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

F. Clavel-Chapelon, P. Vineis, R. Vermeulen, 2009, Annals of neurology.

Society for Neuroscience Abstracts

P. Andersen, P. Leigh, M. Parton, 2001 .