Article in European journal of human genetics : EJHG, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.6field-weighted citation impact, top 17% 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
4 citing papers in PubMed, 7 citations in OpenAlex.
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
18 authors at 4 institutions in 3 countries.
Venugopalan Y Vishnu *Department of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India.ORCID 0000-0002-3654-8137
Richard J L F Lemmers *Department of Human Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.
Alisha ReyazDepartment of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India.
Rinkle MishraDepartment of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India.
Tanveer AhmadDepartment of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India.ORCID 0009-0005-2956-1148
Patrick J van der VlietDepartment of Human Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.
Marcelina M KretkiewiczDepartment of Human Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.ORCID 0009-0005-6020-6830
William L MackenDepartment of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.
Stephanie EfthymiouDepartment of Neuromuscular Diseases, Queen Square UCL Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, UK.ORCID 0000-0003-4900-9877
Natalia DominikDepartment of Neuromuscular Diseases, Queen Square UCL Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, UK.
Jasper M MorrowDepartment of Neuromuscular Diseases, Queen Square UCL Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, UK.
Rohit BhatiaDepartment of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India.
Lindsay A WilsonDepartment of Neuromuscular Diseases, Queen Square UCL Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, UK.ORCID 0009-0001-9396-5893
Henry HouldenDepartment of Neuromuscular Diseases, Queen Square UCL Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, UK.ORCID 0000-0002-2866-7777
Michael G HannaDepartment of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK. m.hanna@ucl.ac.uk.ORCID 0000-0003-0825-4075
Enrico BugiardiniDepartment of Neuromuscular Diseases, Queen Square UCL Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, UK.
Silvère M van der MaarelDepartment of Human Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.ORCID 0000-0001-8103-711X
M V Padma SrivastavaDepartment of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India. vasanthapadma123@gmail.com.ORCID 0000-0001-7615-9411
National Hospital for Neurology and Neurosurgery · GBAll India Institute of Medical Sciences · INLeiden University Medical Center · NLQueen Mary University of London · GB
Funding
Friends of FSH Research noneIndian Council of Medical Research (ICMR) I/1566/2023/RSRCUK | Medical Research Council (MRC) MR/S005021/1Rosetrees Trust none
6 · The paper itself
Abstract
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common form of hereditary myopathy. Sixty per cent of the world's population lives in Asia, so a significant percentage of the world's FSHD participants is expected to live there. To date, most FSHD studies have involved individuals of European descent, yet small-scale studies of East-Asian populations suggest that the likelihood of developing FSHD may vary. Here, we present the first genetically confirmed FSHD cohort of Indian ancestry, which suggests a pathogenic FSHD1 allele size distribution intermediate between European and North-East Asian populations and more asymptomatic carriers of 4 unit and 5 unit FSHD1 alleles than observed in European populations. Our data provides important evidence of differences relevant to clinical diagnostics and underscores the need for global FSHD participation in research and trial-ready Indian FSHD cohorts.
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 Socratic graph.
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India. · full record | Socratic