Article in Annals of neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed, 1 pooled it
1.8field-weighted citation impact, top 14% 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
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 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
37 authors at 20 institutions in 14 countries.
Matthieu MoisseDepartments of Neurosciences, Experimental Neurology, and Leuven Brain Institute (LBI), KU Leuven - University of Leuven, Leuven, Belgium.ORCID 0000-0001-8880-9311
Ramona A J ZwambornDepartment of Neurology, UMC Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands.
Joke van VugtDepartment of Neurology, UMC Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands.ORCID 0000-0002-4161-4004
Rick van der SpekDepartment of Neurology, UMC Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands.ORCID 0000-0001-9983-204X
Wouter van RheenenDepartment of Neurology, UMC Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands.ORCID 0000-0002-5860-1533
Brendan KennaDepartment of Neurology, UMC Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands.
Kristel Van EijkDepartment of Neurology, UMC Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands.
Kevin KennaDepartment of Neurology, UMC Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands.
Patrick Vourc'hUMR 1253, iBrain, Université de Tours, Inserm, Tours, France.ORCID 0000-0001-7960-8139
Orla HardimanAcademic Unit of Neurology, Trinity College Dublin, Trinity Biomedical Sciences Institute, Dublin, Republic of Ireland.ORCID 0000-0003-2610-1291
Russell McLaughinComplex Trait Genomics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Republic of Ireland.ORCID 0000-0003-3915-2135
Marc GotkineThe Agnes Ginges Center for Human Neurogenetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.ORCID 0000-0003-2541-6232
Vivian DroryDepartment of Neurology, Tel-Aviv Sourasky Medical Centre, Tel Aviv, Israel.
Nicola TicozziDepartment of Neurology, Stroke Unit and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milano, Italy.ORCID 0000-0001-5963-7426
Vincenzo SilaniDepartment of Neurology, Stroke Unit and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milano, Italy.ORCID 0000-0002-7698-3854
Mamede de CarvalhoInstituto de Fisiologia, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.ORCID 0000-0001-7556-0158
Ammar Al-ChalabiDepartment of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK.ORCID 0000-0002-4924-7712
Chris ShawDepartment of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK.
Pamela J ShawSheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.ORCID 0000-0002-8925-2567
Karen E MorrisonSchool of Medicine, Dentistry, and Biomedical Sciences, Queen's University Belfast, Belfast, UK.ORCID 0000-0003-0216-5717
John E LandersDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA.ORCID 0000-0001-8084-5043
Jonathan D GlassDepartment Neurology, Emory University School of Medicine, Atlanta, GA.ORCID 0000-0002-3295-4971
Wim RobberechtDepartments of Neurosciences, Experimental Neurology, and Leuven Brain Institute (LBI), KU Leuven - University of Leuven, Leuven, Belgium.
Michael van EsDepartment of Neurology, UMC Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands.ORCID 0000-0002-7709-5883
Leonard van den BergDepartment of Neurology, UMC Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands.ORCID 0000-0002-5203-9674
Jan Veldink *Department of Neurology, UMC Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands.ORCID 0000-0001-5572-9657
Philip Van Damme *Departments of Neurosciences, Experimental Neurology, and Leuven Brain Institute (LBI), KU Leuven - University of Leuven, Leuven, Belgium.ORCID 0000-0002-4010-2357
Project MinE Sequencing ConsortiumProject MinE Sequencing Consortium, Utrecht, The Netherlands.
Utrecht University · NLAllen Institute for Brain Science · USIllumina (United States) · USKing's College London · GBTrinity College Dublin · IEUniversité de Tours · FRUniversity of Milan · ITCentre Hospitalier Universitaire de Tours · FREmory University · USHadassah Medical Center · ILHospital Universitario San Rafael · ESInstitut d'Investigació Biomédica de Bellvitge · ESKoç University · TRQueen's University Belfast · GBTel Aviv Sourasky Medical Center · ILUmeå University · SEUniversity of Lisbon · PTUniversity of Massachusetts Chan Medical School · USUniversity of Sheffield · GBUniversity of St.Gallen · CH
Funding
Identification of genes causative for familial ALS gene using exome sequencingR01NS073873 · NINDS · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI LANDERS, JOHN E · 2011 to 2019
$4.6M
Identification and Characterization of ALS/FTD Associated Variants Using Whole Genome SequencingR56NS073873 · NINDS · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI LANDERS, JOHN E · 2020 to 2020
$586k
Medical Research Council G0600974Medical Research Council MR/L501529/1Medical Research Council MR/R024804/1Motor Neurone Disease Association ALCHALABI-DOBSON/APR14/829-791NINDS NIH HHS R01 NS073873NINDS NIH HHS R56 NS073873Wellcome Trust
6 · The paper itself
Abstract
objectiveThe role of the survival of motor neuron (SMN) gene in amyotrophic lateral sclerosis (ALS) is unclear, with several conflicting reports. A decisive result on this topic is needed, given that treatment options are available now for SMN deficiency.
methodsIn this largest multicenter case control study to evaluate the effect of SMN1 and SMN2 copy numbers in ALS, we used whole genome sequencing data from Project MinE data freeze 2. SMN copy numbers of 6,375 patients with ALS and 2,412 controls were called from whole genome sequencing data, and the reliability of the calls was tested with multiplex ligation-dependent probe amplification data.
resultsThe copy number distribution of SMN1 and SMN2 between cases and controls did not show any statistical differences (binomial multivariate logistic regression SMN1 p = 0.54 and SMN2 p = 0.49). In addition, the copy number of SMN did not associate with patient survival (Royston-Parmar; SMN1 p = 0.78 and SMN2 p = 0.23) or age at onset (Royston-Parmar; SMN1 p = 0.75 and SMN2 p = 0.63).
interpretationIn our well-powered study, there was no association of SMN1 or SMN2 copy numbers with the risk of ALS or ALS disease severity. This suggests that changing SMN protein levels in the physiological range may not modify ALS disease course. This is an important finding in the light of emerging therapies targeted at SMN deficiencies. ANN NEUROL 2021;89:686-697.
Indexed as
Amyotrophic Lateral SclerosisCase-Control StudiesCohort StudiesFemaleGene DosageHumansMaleReproducibility of ResultsRisk FactorsSeverity of Illness IndexSurvival of Motor Neuron 1 ProteinSurvival of Motor Neuron 2 ProteinWhole Genome SequencingSMN1 protein, humanSMN2 protein, humanSurvival of Motor Neuron 1 ProteinSurvival of Motor Neuron 2 Protein
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.
The Effect of SMN Gene Dosage on ALS Risk and Disease Severity. · full record | OpenQuestion