ArticleNeurology. Genetics2020
D-DEMØ, a distinct phenotype caused by
Open access · goldAbstract read
In one paragraph
Article in Neurology. Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
2.2field-weighted citation impact, top 10% 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
16 citing papers in PubMed, 27 citations in OpenAlex.
- Clinical and Genetic Spectrum ofNeurology. Genetics · 2026Article
- Active conformations of neuronal NaNature communications · 2026Article
- The Movement Disorder Spectrum of ATP1A3-Related Disorders: Cross-Sectional Analysis and Video Archive of 88 Patients.Movement disorders : official journal of the Movement Disorder Society · 2026Observational
- Navigating the Complexity of Alternating Hemiplegia in Childhood: A Comprehensive Review.Rambam Maimonides medical journal · 2024Review
- Article
- Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.Brain : a journal of neurology · 2023Article
- Mechanisms underlying phenotypic variation in neurogenetic disorders.Nature reviews. Neurology · 2023Review
- The Phenotypic Continuum ofNeurology · 2022Review
- Characterization of sedation and anesthesia complications in patients with alternating hemiplegia of childhood.European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society · 2022Article
- H-ABC- and dystonia-causingScience advances · 2022Article
- Comparative description of the mRNA expression profile of NaThe Journal of comparative neurology · 2022Article
- Genetically altered animal models for ATP1A3-related disorders.Disease models & mechanisms · 2021Article
- Challenges in Clinicogenetic Correlations: One Gene - Many Phenotypes.Movement disorders clinical practice · 2021Review
- Paroxysmal Genetic Movement Disorders and Epilepsy.Frontiers in neurology · 2021Review
- ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum.Frontiers in neurology · 2021Review
- Decreased content of ascorbic acid (vitamin C) in the brain of knockout mouse models of Na+,K+-ATPase-related neurologic disorders.PloS one · 2021Article
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 5 institutions in 1 country.
Lyndsey PrangeDuke University (L.P., M.P., M.M.M., N.W., V.S., A.H., M.A.M.), Durham, NC; UC Davis Health (K.H.), Sacramento; Baylor Scott & White Health (R.S.), Dallas, TX; Rosalind Franklin University of Medicine and Science (D.M.M.), Chicago, IL; University of North Carolina at Chapel Hill (E.L.H.); Columbia University (D.G.), New York City, NY; and Glycan Therapeutics, LLC (V.P.), Chapel Hill, NC.
Milton PrattDuke University (L.P., M.P., M.M.M., N.W., V.S., A.H., M.A.M.), Durham, NC; UC Davis Health (K.H.), Sacramento; Baylor Scott & White Health (R.S.), Dallas, TX; Rosalind Franklin University of Medicine and Science (D.M.M.), Chicago, IL; University of North Carolina at Chapel Hill (E.L.H.); Columbia University (D.G.), New York City, NY; and Glycan Therapeutics, LLC (V.P.), Chapel Hill, NC.
Kristin HermanDuke University (L.P., M.P., M.M.M., N.W., V.S., A.H., M.A.M.), Durham, NC; UC Davis Health (K.H.), Sacramento; Baylor Scott & White Health (R.S.), Dallas, TX; Rosalind Franklin University of Medicine and Science (D.M.M.), Chicago, IL; University of North Carolina at Chapel Hill (E.L.H.); Columbia University (D.G.), New York City, NY; and Glycan Therapeutics, LLC (V.P.), Chapel Hill, NC.
Raphael SchiffmannDuke University (L.P., M.P., M.M.M., N.W., V.S., A.H., M.A.M.), Durham, NC; UC Davis Health (K.H.), Sacramento; Baylor Scott & White Health (R.S.), Dallas, TX; Rosalind Franklin University of Medicine and Science (D.M.M.), Chicago, IL; University of North Carolina at Chapel Hill (E.L.H.); Columbia University (D.G.), New York City, NY; and Glycan Therapeutics, LLC (V.P.), Chapel Hill, NC.
David M MuellerDuke University (L.P., M.P., M.M.M., N.W., V.S., A.H., M.A.M.), Durham, NC; UC Davis Health (K.H.), Sacramento; Baylor Scott & White Health (R.S.), Dallas, TX; Rosalind Franklin University of Medicine and Science (D.M.M.), Chicago, IL; University of North Carolina at Chapel Hill (E.L.H.); Columbia University (D.G.), New York City, NY; and Glycan Therapeutics, LLC (V.P.), Chapel Hill, NC.
Melissa McLeanDuke University (L.P., M.P., M.M.M., N.W., V.S., A.H., M.A.M.), Durham, NC; UC Davis Health (K.H.), Sacramento; Baylor Scott & White Health (R.S.), Dallas, TX; Rosalind Franklin University of Medicine and Science (D.M.M.), Chicago, IL; University of North Carolina at Chapel Hill (E.L.H.); Columbia University (D.G.), New York City, NY; and Glycan Therapeutics, LLC (V.P.), Chapel Hill, NC.
Mary Moya MendezDuke University (L.P., M.P., M.M.M., N.W., V.S., A.H., M.A.M.), Durham, NC; UC Davis Health (K.H.), Sacramento; Baylor Scott & White Health (R.S.), Dallas, TX; Rosalind Franklin University of Medicine and Science (D.M.M.), Chicago, IL; University of North Carolina at Chapel Hill (E.L.H.); Columbia University (D.G.), New York City, NY; and Glycan Therapeutics, LLC (V.P.), Chapel Hill, NC.
Nicole WalleyDuke University (L.P., M.P., M.M.M., N.W., V.S., A.H., M.A.M.), Durham, NC; UC Davis Health (K.H.), Sacramento; Baylor Scott & White Health (R.S.), Dallas, TX; Rosalind Franklin University of Medicine and Science (D.M.M.), Chicago, IL; University of North Carolina at Chapel Hill (E.L.H.); Columbia University (D.G.), New York City, NY; and Glycan Therapeutics, LLC (V.P.), Chapel Hill, NC.
Erin L HeinzenDuke University (L.P., M.P., M.M.M., N.W., V.S., A.H., M.A.M.), Durham, NC; UC Davis Health (K.H.), Sacramento; Baylor Scott & White Health (R.S.), Dallas, TX; Rosalind Franklin University of Medicine and Science (D.M.M.), Chicago, IL; University of North Carolina at Chapel Hill (E.L.H.); Columbia University (D.G.), New York City, NY; and Glycan Therapeutics, LLC (V.P.), Chapel Hill, NC.
David GoldsteinDuke University (L.P., M.P., M.M.M., N.W., V.S., A.H., M.A.M.), Durham, NC; UC Davis Health (K.H.), Sacramento; Baylor Scott & White Health (R.S.), Dallas, TX; Rosalind Franklin University of Medicine and Science (D.M.M.), Chicago, IL; University of North Carolina at Chapel Hill (E.L.H.); Columbia University (D.G.), New York City, NY; and Glycan Therapeutics, LLC (V.P.), Chapel Hill, NC.
Vandana ShashiDuke University (L.P., M.P., M.M.M., N.W., V.S., A.H., M.A.M.), Durham, NC; UC Davis Health (K.H.), Sacramento; Baylor Scott & White Health (R.S.), Dallas, TX; Rosalind Franklin University of Medicine and Science (D.M.M.), Chicago, IL; University of North Carolina at Chapel Hill (E.L.H.); Columbia University (D.G.), New York City, NY; and Glycan Therapeutics, LLC (V.P.), Chapel Hill, NC.
Arsen HunanyanDuke University (L.P., M.P., M.M.M., N.W., V.S., A.H., M.A.M.), Durham, NC; UC Davis Health (K.H.), Sacramento; Baylor Scott & White Health (R.S.), Dallas, TX; Rosalind Franklin University of Medicine and Science (D.M.M.), Chicago, IL; University of North Carolina at Chapel Hill (E.L.H.); Columbia University (D.G.), New York City, NY; and Glycan Therapeutics, LLC (V.P.), Chapel Hill, NC.
Vijay PagadalaDuke University (L.P., M.P., M.M.M., N.W., V.S., A.H., M.A.M.), Durham, NC; UC Davis Health (K.H.), Sacramento; Baylor Scott & White Health (R.S.), Dallas, TX; Rosalind Franklin University of Medicine and Science (D.M.M.), Chicago, IL; University of North Carolina at Chapel Hill (E.L.H.); Columbia University (D.G.), New York City, NY; and Glycan Therapeutics, LLC (V.P.), Chapel Hill, NC.
Mohamad A MikatiDuke University (L.P., M.P., M.M.M., N.W., V.S., A.H., M.A.M.), Durham, NC; UC Davis Health (K.H.), Sacramento; Baylor Scott & White Health (R.S.), Dallas, TX; Rosalind Franklin University of Medicine and Science (D.M.M.), Chicago, IL; University of North Carolina at Chapel Hill (E.L.H.); Columbia University (D.G.), New York City, NY; and Glycan Therapeutics, LLC (V.P.), Chapel Hill, NC.
Rosalind Franklin University of Medicine and Science · USBaylor Scott & White Health · USColumbia University · USUC Davis Health System · USUniversity of North Carolina at Chapel Hill · US
Funding
Structure Function of the ATP SynthaseR01GM066223 · NIGMS · ROSALIND FRANKLIN UNIV OF MEDICINE &SCI · PI MUELLER, DAVID MICHAEL · 2002 to 2018
$5.3MStructure and mechanism of the mitochondrial ATP synthase and Batten Disease gene product, Cln3pR35GM131731 · NIGMS · ROSALIND FRANKLIN UNIV OF MEDICINE & SCI · PI MUELLER, DAVID MICHAEL · 2019 to 2023
$2.2MNIGMS NIH HHS R01 GM066223NIGMS NIH HHS R35 GM131731
Abstract
objectiveTo describe a phenotype caused by
methodsReview and analysis of clinical and genetic data.
resultsPatients shared the above traits and had whole-exome sequencing that showed de novo variants of the
conclusionsD-DEMØ represents an
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC-ND
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.