Evidence map›Paper›PMID 33414559›Full record

ArticleEuropean journal of human genetics : EJHG2021

Genetic analysis of ALS cases in the isolated island population of Malta.

Rebecca Borg, Maia Farrugia Wismayer, Karl Bonavia, Andrew Farrugia Wismayer, Malcolm Vella, Joke J F A van Vugt, Brendan J Kenna, Kevin P Kenna, Neville Vassallo, Jan H Veldink and 1 more

Open access · hybridAbstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 1 pooled it
2.3field-weighted citation impact, top 10% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

20 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Amyotrophic Lateral Sclerosis Prevalence Projection in 2040: A Less Rare Disease.Annals of clinical and translational neurology · 2026
    Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. Genetic analysis ofFrontiers in aging neuroscience · 2025
    Article
  9. Article
  10. Article
  11. Article
  12. Review
  13. Article
  14. Increasing prevalence 2015-2019 of amyotrophic lateral sclerosis in Sardinia, Italy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023
    Article
  15. ENROLL-HD for MND?European journal of human genetics : EJHG · 2023
    Article
  16. Reduced levels of ALS geneFrontiers in neuroscience · 2023
    Article
  17. Revealing the recent demographic history of Europe via haplotype sharing in the UK Biobank.Proceedings of the National Academy of Sciences of the United States of America · 2022
    Article
  18. Analysis ofFrontiers in neurology · 2022
    Article
  19. Review
  20. DCTN1 Binds to TDP-43 and Regulates TDP-43 Aggregation.International journal of molecular sciences · 2021
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 3 institutions in 2 countries.

Rebecca BorgCentre for Molecular Medicine and Biobanking, Biomedical Sciences Building, University of Malta, Msida, Malta.
Maia Farrugia WismayerCentre for Molecular Medicine and Biobanking, Biomedical Sciences Building, University of Malta, Msida, Malta.
Karl BonaviaCentre for Molecular Medicine and Biobanking, Biomedical Sciences Building, University of Malta, Msida, Malta.
Andrew Farrugia WismayerCentre for Molecular Medicine and Biobanking, Biomedical Sciences Building, University of Malta, Msida, Malta.
Malcolm VellaDepartment of Neuroscience, Mater Dei Hospital, Msida, Malta.
Joke J F A van VugtDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Brendan J KennaDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Kevin P KennaDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Neville VassalloCentre for Molecular Medicine and Biobanking, Biomedical Sciences Building, University of Malta, Msida, Malta.
Jan H VeldinkDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.ORCID http://orcid.org/0000-0001-5572-9657
Ruben J CauchiCentre for Molecular Medicine and Biobanking, Biomedical Sciences Building, University of Malta, Msida, Malta. ruben.cauchi@um.edu.mt.ORCID http://orcid.org/0000-0001-6150-1608
University of Malta · MTUniversity Medical Center Utrecht · NLMater Dei Hospital · MT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic isolates are compelling tools for mapping genes of inherited disorders. The archipelago of Malta, a sovereign microstate in the south of Europe is home to a geographically and culturally isolated population. Here, we investigate the epidemiology and genetic profile of Maltese patients with amyotrophic lateral sclerosis (ALS), identified throughout a 2-year window. Cases were largely male (66.7%) with a predominant spinal onset of symptoms (70.8%). Disease onset occurred around mid-age (median age: 64 years, men; 59.5 years, female); 12.5% had familial ALS (fALS). Annual incidence rate was 2.48 (95% CI 1.59-3.68) per 100,000 person-years. Male-to-female incidence ratio was 1.93:1. Prevalence was 3.44 (95% CI 2.01-5.52) cases per 100,000 inhabitants on 31

Indexed as

Genetic LociMutationReproductive IsolationAdultAgedAged, 80 and overAge FactorsAmyotrophic Lateral SclerosisFemaleGene FrequencyHumansMaleMaltaMiddle AgedPrevalenceSex Factors

Identifiers

PMID33414559
PMCPMC8115635
OpenAlexW3120728610

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.