ArticleAmerican journal of human genetics2002
A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 34 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
34 citing papers in PubMed, 138 citations in OpenAlex.
- Neurodegenerative Disorders of Alzheimer, Parkinsonism, Amyotrophic Lateral Sclerosis and Multiple Sclerosis: An Early Diagnostic Approach for Precision Treatment.Metabolic brain disease · 2022Review
- Evolution of a Human-Specific Tandem Repeat Associated with ALS.American journal of human genetics · 2020Article
- ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now?Frontiers in neuroscience · 2019Review
- Genetics of Amyotrophic Lateral Sclerosis.Cold Spring Harbor perspectives in medicine · 2018Review
- Neuroprotective Potential of Cell-Based Therapies in ALS: From Bench to Bedside.Frontiers in neuroscience · 2017Review
- The genetics of amyotrophic lateral sclerosis: current insights.Degenerative neurological and neuromuscular disease · 2016Review
- Familial Amyotrophic Lateral Sclerosis.Neurologic clinics · 2015Review
- Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges.Brain research · 2015Review
- Vitamin D as a potential therapy in amyotrophic lateral sclerosis.CNS neuroscience & therapeutics · 2014Review
- Selective vulnerability of motoneuron and perturbed mitochondrial calcium homeostasis in amyotrophic lateral sclerosis: implications for motoneurons specific calcium dysregulation.Molecular and cellular therapies · 2014Review
- The wobbler mouse, an ALS animal model.Molecular genetics and genomics : MGG · 2013Review
- The changing scene of amyotrophic lateral sclerosis.Nature reviews. Neuroscience · 2013Review
- Mice deficient in Epg5 exhibit selective neuronal vulnerability to degeneration.The Journal of cell biology · 2013Article
- Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis.Human molecular genetics · 2012Article
- The complex molecular biology of amyotrophic lateral sclerosis (ALS).Progress in molecular biology and translational science · 2012Review
- Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis.Nature reviews. Neurology · 2011Review
- Clinical genetics of amyotrophic lateral sclerosis: what do we really know?Nature reviews. Neurology · 2011Review
- The evolving biology of cell reprogramming.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2011Article
- Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase.Proceedings of the National Academy of Sciences of the United States of America · 2010Article
- Genetics of motor neuron disorders: new insights into pathogenic mechanisms.Nature reviews. Genetics · 2009Review
Corrections and comments
- Erratum issued
Authors and funding
11 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Amyotrophic lateral sclerosis (ALS) is an adult-onset degenerative disorder characterized by the death of motor neurons in the cortex, brain stem, and spinal cord. Despite intensive research the basic pathophysiology of ALS remains unclear. Although most cases are sporadic, approximately 10% of ALS cases are familial (FALS). Mutations in the Cu/Zn superoxide dismutase (SOD1) gene cause approximately 20% of FALS. The gene(s) responsible for the remaining 80% of FALS remain to be found. Using a large European kindred without SOD1 mutation and with classic autosomal dominant adult-onset ALS, we have identified a novel locus by performing a genome scan and linkage analysis. The maximum LOD score is 4.5 at recombination fraction 0.0, for polymorphism D18S39. Haplotype analysis has identified a 7.5-cM, 8-Mb region of chromosome 18q21, flanked by markers D18S846 and D18S1109, as a novel FALS locus.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.