Evidence map›Paper›PMID 38173802›Full record

ArticleBrain communications2024

Expanding the phenotypic spectrum of

Paulo R Nóbrega, Anderson R B de Paiva, Katiane S Souza, Jorge Luiz B de Souza, Pedro Lucas G S B Lima, Delson José da Silva, Milena Sales Pitombeira, Viviennee K Borges, Daniel A Dias, Luciana M Bispo and 23 more

Open access · goldAbstract read
In one paragraph

Article in Brain communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.9field-weighted citation impact, top 24% 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

5 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Article
  3. Identification of a novelFrontiers in genetics · 2026
    Article
  4. Review
  5. 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

33 authors at 18 institutions in 4 countries.

Paulo R NóbregaDivision of Neurology, Department of Clinical Medicine, Federal University of Ceara, Fortaleza, Ceara 60430-160, Brazil.ORCID https://orcid.org/0000-0002-0021-9358
Anderson R B de PaivaNeurogenetics Unit, Department of Neurology, University of Sao Paulo School of Medicine, Sao Paulo, Sao Paulo 05403-000, Brazil.ORCID https://orcid.org/0000-0002-8261-2275
Katiane S SouzaNeurogenetics Unit, Department of Neurology, University of Sao Paulo School of Medicine, Sao Paulo, Sao Paulo 05403-000, Brazil.
Jorge Luiz B de SouzaCenter of Health Science, State University of Ceara, Fortaleza, Ceara 3101-9795, Brazil.
Pedro Lucas G S B LimaFaculty of Medicine, Federal University of Ceara, Fortaleza, Ceara 60430-160, Brazil.ORCID https://orcid.org/0000-0002-8517-2324
Delson José da SilvaUniversidade Federal de Goias, Goiania, Goias 74690-900, Brazil.
Milena Sales PitombeiraHospital Geral de Fortaleza, Fortaleza, Ceara 60150-160, Brazil.ORCID https://orcid.org/0000-0002-3298-0264
Viviennee K BorgesHospital de Clínicas, Universidade Federal de Uberlândia, Uberlandia, Minas Gerais 38405-320, Brazil.
Daniel A DiasDivision of Radiology, Federal University of Ceara, Fortaleza, Ceara 60430-160, Brazil.
Luciana M BispoMendelics Genomic Analysis, Sao Paulo, Sao Paulo 02511-000, Brazil.
Carolina F SantosUniversidade de Fortaleza, Fortaleza, Ceara 60811-905, Brazil.
Fernando FreuaNeurogenetics Unit, Department of Neurology, University of Sao Paulo School of Medicine, Sao Paulo, Sao Paulo 05403-000, Brazil.
Paulo Diego S SilvaPrevent Senior, Sao Paulo, Sao Paulo 01401-001, Brazil.
Isabela S AlvesPrevent Senior, Sao Paulo, Sao Paulo 01401-001, Brazil.
Leonardo B PortellaPrevent Senior, Sao Paulo, Sao Paulo 01401-001, Brazil.
Paulina R CunhaParis Brain Institute (ICM), Paris 75013, France.
Rubens Paulo A SalomaoAtaxia Unit, Department of Neurology, Universidade Federal de São Paulo, Sao Paulo, Sao Paulo 04021-001, Brazil.
José Luiz PedrosoAtaxia Unit, Department of Neurology, Universidade Federal de São Paulo, Sao Paulo, Sao Paulo 04021-001, Brazil.
Veridiana P MiyajimaCentre for Clinical Diagnostics, Haematology and Haemotherapy Centre of Ceara (HEMOCE), Fortaleza, Ceara 60416-130, Brazil.
Fábio MiyajimaAnalytical Competence Molecular Epidemiology Lab (ACME), Oswaldo Cruz Foundation (Fiocruz), Fortaleza, Ceara 61773-270, Brazil.
Elisa CaliDepartment of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Charles WadeQueen Square MS Centre, UCL Institute of Neurology, London WC1N 3BG, UK.
Annapurna SudarsanamBirmingham Children's Hospital, Birmingham, Birmingham B4 6NH, UK.
Mary O'DriscollWest Midlands Regional Clinical Genetics Service, Birmingham Health Partners, Birmingham Women's Hospital NHS Foundation Trust, Birmingham B15 2TG, UK.
Tom HaytonUniversity Hospital Birmingham, Birmingham B15 2GW, UK.
Orlando G P BarsottiniAtaxia Unit, Department of Neurology, Universidade Federal de São Paulo, Sao Paulo, Sao Paulo 04021-001, Brazil.
Stephan KlebeDepartment of Neurology, University of Würzburg, Essen 97080, Germany.
Fernando KokNeurogenetics Unit, Department of Neurology, University of Sao Paulo School of Medicine, Sao Paulo, Sao Paulo 05403-000, Brazil.
Leandro Tavares LucatoNeuroradiology Section, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo,Sao Paulo, Sao Paulo 05403-010, Brazil.
Henry HouldenDepartment of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.ORCID https://orcid.org/0000-0002-2866-7777
Christel DepienneInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen 45147, Germany.
David S LynchDepartment of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.ORCID https://orcid.org/0000-0003-0615-7159
Pedro Braga-NetoDivision of Neurology, Department of Clinical Medicine, Federal University of Ceara, Fortaleza, Ceara 60430-160, Brazil.
Universidade de São Paulo · BRNational Hospital for Neurology and Neurosurgery · GBUniversidade Federal de São Paulo · BRUniversidade Federal do Ceará · BRUniversidade Estadual do Ceará · BRBirmingham Children's Hospital · GBBirmingham Women's Hospital · GBHospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo · BRInstitut du Cerveau · FRNIHR Surgical Reconstruction and Microbiology Research Centre · GBQueen Mary University of London · GBUniversidade de Fortaleza · BRUniversidade Federal de Goiás · BRUniversidade Federal de Sergipe · BRUniversidade Federal de Uberlândia · BRUniversity of Duisburg-Essen · DEUniversity of Liverpool · GBUniversity of Würzburg · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mutations in

Indexed as

ataxiaClC-2 chloride channelsleucoencephalopathiesMRI

Identifiers

PMID38173802
PMCPMC10763528
OpenAlexW4387701125

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.