Peter M. Andersen
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View article: Landscapes of missense variant impact for human superoxide dismutase 1
Landscapes of missense variant impact for human superoxide dismutase 1 Open
Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease for which important subtypes are caused by variation in superoxide dismutase 1 (SOD1). Diagnosis based on SOD1 sequencing can not only be definitive but can also ind…
View article: Proposed Research Criteria for Mild Motor Impairment as a Prodromal Syndrome in Amyotrophic Lateral Sclerosis
Proposed Research Criteria for Mild Motor Impairment as a Prodromal Syndrome in Amyotrophic Lateral Sclerosis Open
MMI is a recognizable syndrome. Although nonspecific, it identifies presymptomatic carriers at elevated risk of ALS phenoconversion. Combining MMI with emerging biomarkers of underlying pathology may help differentiate those who are prodro…
View article: Transformed Parenthood in the Face of ALS: A Profound Struggle for Both Ill Parents and Co-parents
Transformed Parenthood in the Face of ALS: A Profound Struggle for Both Ill Parents and Co-parents Open
When a parent is diagnosed with a progressive, fatal neurodegenerative disease, such as amyotrophic lateral sclerosis (ALS), it can have major effects on the family’s health. Parenthood itself may also be affected, potentially fueling an u…
View article: Identification of a presymptomatic and early disease signature for Amyotrophic Lateral Sclerosis (ALS): protocol of the premodiALS study
Identification of a presymptomatic and early disease signature for Amyotrophic Lateral Sclerosis (ALS): protocol of the premodiALS study Open
The median time to diagnosis of amyotrophic lateral sclerosis (ALS) is approximately 12 months after the onset of first symptoms. This diagnostic delay is primarily due to the nonspecific nature of early symptoms and the clinical challenge…
View article: Somatic mutations in ALS genes in the motor cortex of sporadic ALS patients
Somatic mutations in ALS genes in the motor cortex of sporadic ALS patients Open
Amyotrophic lateral sclerosis (ALS) is characterized by the progressive degeneration of cortical and spinal motor neurons. Mendelian germline mutations often cause familial ALS (fALS) but only approximately ten percent of sporadic ALS case…
View article: A comparison of p‐tau assays for the specificity to detect tau changes in Alzheimer's disease
A comparison of p‐tau assays for the specificity to detect tau changes in Alzheimer's disease Open
INTRODUCTION We evaluated differences in p‐tau levels between Alzheimer's disease (AD), a condition with brain‐specific changes in p‐tau, and amyotrophic lateral sclerosis (ALS), a condition associated with increases in peripheral p‐tau le…
View article: Landscapes of missense variant impact for human superoxide dismutase 1
Landscapes of missense variant impact for human superoxide dismutase 1 Open
Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease for which important subtypes are caused by variation in the Superoxide Dismutase 1 gene SOD1 . Diagnosis based on SOD1 sequencing can not only be definitive but also…
View article: Phenotypic Characterization of ALS‐Causing SOD1 Mutations Affecting Polypeptide Length
Phenotypic Characterization of ALS‐Causing SOD1 Mutations Affecting Polypeptide Length Open
Background: Some 234 mutations in the small SOD1 gene have been reported to cause amyotrophic lateral sclerosis. However, the pathogenic mechanisms, particularly of those mutations affecting polypeptide length, are contested. It is present…
View article: Upregulated miR-10b-5p as a potential miRNA signature in amyotrophic lateral sclerosis patients
Upregulated miR-10b-5p as a potential miRNA signature in amyotrophic lateral sclerosis patients Open
Amyotrophic lateral sclerosis (ALS) is a fatal, adult-onset disease marked by a progressive degeneration of motor neurons (MNs) present in the spinal cord, brain stem and motor cortex. Death in most patients usually occurs within 2–4 years…
View article: Specific analysis of SOD1 enzymatic activity in CSF from ALS patients with and without SOD1 mutations
Specific analysis of SOD1 enzymatic activity in CSF from ALS patients with and without SOD1 mutations Open
Mutations in superoxide dismutase-1 (SOD1) are a cause of hereditary amyotrophic lateral sclerosis (ALS) through a gain-of-function mechanism involving unfolded mutant SOD1. Intrathecal gene therapy using the antisense-oligo-nucleotide dru…
View article: Tofersen decreases neurofilament levels supporting the pathogenesis of the SOD1 p.D91A variant in amyotrophic lateral sclerosis patients
Tofersen decreases neurofilament levels supporting the pathogenesis of the SOD1 p.D91A variant in amyotrophic lateral sclerosis patients Open
Background Since the antisense oligonucleotide tofersen has recently become available for the treatment of amyotrophic lateral sclerosis (ALS) caused by mutations in SOD1 , determining the causality of the over 230 SOD1 variants has become…
View article: Adolescents' challenging and grief-filled transitions when living with a parent with ALS: A qualitative interpretive study
Adolescents' challenging and grief-filled transitions when living with a parent with ALS: A qualitative interpretive study Open
View article: SOD1 Enzymatic Activity in CSF from ALS patients with and without<i>SOD1</i>mutations
SOD1 Enzymatic Activity in CSF from ALS patients with and without<i>SOD1</i>mutations Open
Superoxide dismutase-1 (SOD1) mutations are a common cause of amyotrophic lateral sclerosis (ALS). Intrathecal gene therapy using the antisense-oligo-nucleotide drug tofersen to reduce SOD1 expression shows significant effects on disease p…
View article: DALSO: domain ALS ontology
DALSO: domain ALS ontology Open
Amyotrophic lateral sclerosis (ALS) is an incurable, rapidly progressive neurodegenerative disease. During the course of ALS, virtually all skeletal muscles are gradually affected, including the respiratory muscles, and the disease is usua…
View article: Publisher Correction: The Miami Framework for ALS and related neurodegenerative disorders: an integrated view of phenotype and biology
Publisher Correction: The Miami Framework for ALS and related neurodegenerative disorders: an integrated view of phenotype and biology Open
View article: The Miami Framework for ALS and related neurodegenerative disorders: an integrated view of phenotype and biology
The Miami Framework for ALS and related neurodegenerative disorders: an integrated view of phenotype and biology Open
View article: Computing linkage disequilibrium aware genome embeddings using autoencoders
Computing linkage disequilibrium aware genome embeddings using autoencoders Open
Motivation The completion of the genome has paved the way for genome-wide association studies (GWAS), which explained certain proportions of heritability. GWAS are not optimally suited to detect non-linear effects in disease risk, possibly…
View article: The oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling, and therapeutic implications
The oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling, and therapeutic implications Open
Recently, large-scale case-control analyses have been prioritized in the study of ALS. Yet the same effort has not been put forward to investigate additive moderate phenotypic effects of genetic variants in genes driving ALS risk, despite …
View article: European Academy of Neurology (<scp>EAN)</scp> guideline on the management of amyotrophic lateral sclerosis in collaboration with European Reference Network for Neuromuscular Diseases (<scp>ERN</scp><scp>EURO‐NMD)</scp>
European Academy of Neurology (<span>EAN)</span> guideline on the management of amyotrophic lateral sclerosis in collaboration with European Reference Network for Neuromuscular Diseases (<span>ERN</span><span>EURO‐NMD)</span> Open
Background This update of the guideline on the management of amyotrophic lateral sclerosis (ALS) was commissioned by the European Academy of Neurology (EAN) and prepared in collaboration with the European Reference Network for Neuromuscula…
View article: Author Correction: Integrative genetic analysis illuminates ALS heritability and identifies risk genes
Author Correction: Integrative genetic analysis illuminates ALS heritability and identifies risk genes Open
View article: Validity and reliability measures of the Swedish Karolinska version of the Edinburgh Cognitive and Behavioral ALS Screen (SK-ECAS)
Validity and reliability measures of the Swedish Karolinska version of the Edinburgh Cognitive and Behavioral ALS Screen (SK-ECAS) Open
Cognitive and behavioral impairment is observed in up to 50% of patients with amyotrophic lateral sclerosis (ALS). The Edinburgh Cognitive and Behavioral ALS Screen (ECAS) is a 5-domain screening tool customized for quick cognitive screeni…
View article: Living with a parent with ALS - adolescents’ need for professional support from the adolescents’ and the parents’ perspectives
Living with a parent with ALS - adolescents’ need for professional support from the adolescents’ and the parents’ perspectives Open
Given the adolescents' need for information and understanding, healthcare professionals must actively work to reach the adolescents as early as possible. It is crucial to ensure that the adolescents are given the opportunity to be involved…
View article: Genetic and phenotype analyses of primary lateral sclerosis datasets from international cohorts
Genetic and phenotype analyses of primary lateral sclerosis datasets from international cohorts Open
Primary lateral sclerosis (PLS) is the rarest form of motor neurone disease (MND). It is characterized by upper motor neuron degeneration, leading to progressive weakness, spasticity and functional disability. Although PLS does not typical…
View article: Unsupervised machine-learning identifies clinically distinct subtypes of ALS that reflect different genetic architectures and biological mechanisms
Unsupervised machine-learning identifies clinically distinct subtypes of ALS that reflect different genetic architectures and biological mechanisms Open
Background Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterised by a highly variable clinical presentation and multifaceted genetic and biological bases that translate into great patient heterogeneity. The…
View article: Myofiber Type Shift in Extraocular Muscles in Amyotrophic Lateral Sclerosis
Myofiber Type Shift in Extraocular Muscles in Amyotrophic Lateral Sclerosis Open
The EOMs of terminal ALS donors displayed changes in the fast-type myofiber composition in the GL, with a more pronounced alteration in bulbar-onset ALS donors. Our results align with the worse prognosis and subclinical changes in eye move…
View article: Live Cell Imaging of ATP Levels Reveals Metabolic Compartmentalization within Motoneurons and Early Metabolic Changes in FUS ALS Motoneurons
Live Cell Imaging of ATP Levels Reveals Metabolic Compartmentalization within Motoneurons and Early Metabolic Changes in FUS ALS Motoneurons Open
Motoneurons are one of the most energy-demanding cell types and a primary target in Amyotrophic lateral sclerosis (ALS), a debilitating and lethal neurodegenerative disorder without currently available effective treatments. Disruption of m…
View article: Live cell imaging of ATP levels reveals metabolic compartmentalization within motoneurons and early metabolic changes in<i>FUS</i>ALS motoneurons
Live cell imaging of ATP levels reveals metabolic compartmentalization within motoneurons and early metabolic changes in<i>FUS</i>ALS motoneurons Open
Motoneurons are one of the highest energy demanding cell types and a primary target in Amyotrophic lateral sclerosis (ALS), a debilitating and lethal neurodegenerative disorder without currently available effective treatments. Disruption o…
View article: Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival
Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival Open
Introduction: Caveolin-1 and Caveolin-2 (CAV1 and CAV2) are proteins associated with intercellular neurotrophic signalling. There is converging evidence that CAV1 and CAV2 (CAV1/2) genes have a role in amyotrophic lateral sclerosis (ALS). …
View article: A novel homozygous p.Ser69Pro SOD1 mutation causes severe young-onset ALS with decreased enzyme activity
A novel homozygous p.Ser69Pro SOD1 mutation causes severe young-onset ALS with decreased enzyme activity Open
Background The dose–effect of various SOD1 mutations on SOD1 enzymatic activity offers valuable insights into ALS pathogenesis with possible therapeutic implications. Homozygous SOD1 mutations, yet scarce, are of special interest. We repor…
View article: Molecular dynamics analysis of Superoxide Dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression
Molecular dynamics analysis of Superoxide Dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression Open
Mutations in the superoxide dismutase 1 ( SOD1 ) gene are the second most common known cause of ALS. SOD1 variants express high phenotypic variability and over 200 have been reported in people with ALS. Investigating how different SOD1 var…