Evidence map›Paper›PMID 33801522›Full record

ArticleInternational journal of molecular sciences2021

Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.

Paula Sancho, Amparo Andrés-Bordería, Nerea Gorría-Redondo, Katia Llano, Dolores Martínez-Rubio, María Eugenia Yoldi-Petri, Luba Blumkin, Pablo Rodríguez de la Fuente, Fernando Gil-Ortiz, Leonor Fernández-Murga and 5 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
1.5field-weighted citation impact, top 19% 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

14 citing papers in PubMed, 17 citations in OpenAlex.

  1. Article
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  8. Article
  9. [Cerebral palsy: new challenges in the era of rare diseases].Anales del sistema sanitario de Navarra · 2023
    Article
  10. Article
  11. Review
  12. Article
  13. Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.International journal of molecular sciences · 2022
    Article
  14. De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.Movement disorders : official journal of the Movement Disorder Society · 2022
    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

15 authors at 7 institutions in 2 countries.

Paula SanchoUnit of Rare Neurodegenerative Diseases, Centro de Investigación Príncipe Felipe (CIPF), 46012 Valencia, Spain.
Amparo Andrés-BorderíaUnit of Rare Neurodegenerative Diseases, Centro de Investigación Príncipe Felipe (CIPF), 46012 Valencia, Spain.
Nerea Gorría-RedondoPediatric Neurology Unit, Department of Pediatrics, Complejo Hospitalario de Navarra, 31008 Pamplona, Spain.
Katia LlanoClinical Psychology, Department of Psychiatry, Complejo Hospitalario de Navarra, 31008 Pamplona, Spain.
Dolores Martínez-RubioUnit of Rare Neurodegenerative Diseases, Centro de Investigación Príncipe Felipe (CIPF), 46012 Valencia, Spain.
María Eugenia Yoldi-PetriPediatric Neurology Unit, Department of Pediatrics, Complejo Hospitalario de Navarra, 31008 Pamplona, Spain.
Luba BlumkinPediatric Neurology Unit, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel-Aviv University, 69978 Tel-Aviv, Israel.
Pablo Rodríguez de la FuentePediatric Imaging Unit, Department of Radiology, Complejo Hospitalario de Navarra, 31008 Pamplona, Spain.
Fernando Gil-OrtizCELLS-ALBA Synchrotron Light Source, 08290 Barcelona, Spain.
Leonor Fernández-MurgaMolecular Oncology Laboratory, Hospital Arnau de Vilanova, 46015 Valencia, Spain.
Ana Sánchez-MonteagudoUnit of Rare Neurodegenerative Diseases, Centro de Investigación Príncipe Felipe (CIPF), 46012 Valencia, Spain.
Vincenzo LupoUnit of Rare Neurodegenerative Diseases, Centro de Investigación Príncipe Felipe (CIPF), 46012 Valencia, Spain.
Belén Pérez-DueñasPediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona, 08035 Barcelona, Spain.
Carmen EspinósUnit of Rare Neurodegenerative Diseases, Centro de Investigación Príncipe Felipe (CIPF), 46012 Valencia, Spain.ORCID 0000-0003-4435-1809
Sergio Aguilera-AlbesaPediatric Neurology Unit, Department of Pediatrics, Complejo Hospitalario de Navarra, 31008 Pamplona, Spain.
Centro de Investigacion Principe Felipe · ESComplejo Hospitalario de Navarra · ESALBA Synchrotron (Spain) · ESHospital Arnau de Vilanova · ESTel Aviv University · ILUniversitat Autònoma de Barcelona · ESUniversitat de València · ES

Funding

Conselleria de Cultura, Educación y Ciencia, Generalitat Valenciana PROMETEO/2018/135Instituto de Salud Carlos III PI18/00147Ministerio de Educación, Cultura y Deporte FPU15/00964Spanish Foundation Per Amor a l'Art FPAA
6 · The paper itself

Abstract

(1) Background: A non-progressive congenital ataxia (NPCA) phenotype caused by β-III spectrin (

Indexed as

MutationAge of OnsetAmino Acid SequenceCerebellar AtaxiaChildCohort StudiesGenetic Association StudiesHumansMaleNeurodegenerative DiseasesNeuroimagingPhenotypeProtein ConformationSequence HomologySpectrinSyndromeSpectrinSPTBN2 protein, humanneurodegenerationnon-progressive congenital ataxiaSPTBN2 geneβ-III spectrin

Identifiers

PMID33801522
PMCPMC7958857
OpenAlexW3134667747

What OpenQuestion holds

Textmetadata
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.