ArticleNeurology2022
De Novo
Open access · greenAbstract read
In one paragraph
Article in Neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.7field-weighted citation impact, top 34% of its field
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
7 citing papers in PubMed, 8 citations in OpenAlex.
- Mechanism of Rescue of NaInternational journal of molecular sciences · 2026Article
- On the mechanism of hypomagnesemia with treatment-resistant seizures caused by variants of the Na+,K+-ATPase α1 subunit (ATP1A1).The Journal of general physiology · 2026Article
- Association of the RecurrentNeurology. Genetics · 2025Article
- Auditory Neuropathy Spectrum Disorder Progressing with Motor and Sensory Neuropathy Caused by an ATP1A1 Variant.Internal medicine (Tokyo, Japan) · 2024Article
- Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.Annals of clinical and translational neurology · 2024Article
- Small molecule regulators of microRNAs identified by high-throughput screen coupled with high-throughput sequencing.Nature communications · 2023Article
- The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease.Journal of neurology · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 1 institution in 1 country.
Maike F DohrnFrom the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.ORCID 0000-0002-5320-9807
Adriana P RebeloFrom the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.
Siddharth SrivastavaFrom the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.
Gerarda CappuccioFrom the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.
Robert SmigielFrom the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.ORCID 0000-0003-2930-9549
Alka MalhotraFrom the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.
Donald BaselFrom the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.
Ingrid van de LaarFrom the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.ORCID 0000-0002-2523-1230
Rinze Frederik NeuteboomFrom the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.ORCID 0000-0001-6136-4981
Coranne Aarts-TesselaarFrom the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.
Sonal MahidaFrom the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.
Nicola Brunetti-PierriFrom the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.ORCID 0000-0002-6895-8819
Ryan J TaftFrom the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands.
Stephan ZüchnerFrom the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands. szuchner@med.miami.edu.
Dr. John T. Macdonald Foundation · US
Funding
Genomic Studies in Charcot-Marie-Tooth DiseaseR01NS105755 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI SHY, MICHAEL E., ZUCHNER, STEPHAN · 2019 to 2023
$3.2MNINDS NIH HHS R01 NS105755
Abstract
PubMed holds no abstract for this paper.
Indexed as
Intellectual DisabilityMigraine with AuraHumansMutationPhenotypeSodium-Potassium-Exchanging ATPaseSyndromeATP1A1 protein, humanATP1A3 protein, humanSodium-Potassium-Exchanging ATPase
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What OpenQuestion holds
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Read underepoch 390
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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.