Evidence map›Paper›PMID 42666683›Full record

ArticleNeurology. Genetics2026

Clinical and Genetic Spectrum of

Victor Rebelo Procaci, Raphael Pinheiro Camurugy da Hora, Anna Maria Gomes, Thiago Yoshinaga Tonholo Silva, Emilia Katiane Embiruçu, Thiago Oliveira Silva, Vanessa Van Der Linden, Eduardo De Paula Estephan, Fabio Nazare Oliveira, Fernanda Veiga de Goes and 27 more

Abstract read
In one paragraph

Article in Neurology. Genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

37 authors.

Victor Rebelo ProcaciDepartment of Neurology, Advanced General Neurology Unit, Universidade Federal de São Paulo, Brazil.ORCID https://orcid.org/0000-0001-7303-6512
Raphael Pinheiro Camurugy da HoraDepartment of Neurology, Advanced General Neurology Unit, Universidade Federal de São Paulo, Brazil.ORCID https://orcid.org/0009-0004-1416-955X
Anna Maria GomesDepartment of Neurology, Advanced General Neurology Unit, Universidade Federal de São Paulo, Brazil.ORCID https://orcid.org/0009-0004-9766-9938
Thiago Yoshinaga Tonholo SilvaDepartment of Neurology, Advanced General Neurology Unit, Universidade Federal de São Paulo, Brazil.ORCID https://orcid.org/0000-0002-7185-8309
Emilia Katiane EmbiruçuDepartment of Medical Genetics, Hospital Universitário Professor Edgar Santos, Salvador, Brazil.ORCID https://orcid.org/0000-0001-5387-6418
Thiago Oliveira SilvaRarus - Serviço de Referência em Doenças Raras, Recife, Brazil.ORCID https://orcid.org/0000-0002-9184-174X
Vanessa Van Der LindenRarus - Serviço de Referência em Doenças Raras, Recife, Brazil.ORCID https://orcid.org/0000-0003-1641-9386
Eduardo De Paula EstephanDepartment of Neurology, Faculdade de Medicina de São José do Rio Preto, Brazil.ORCID https://orcid.org/0000-0002-6807-1951
Fabio Nazare OliveiraDepartment of Neurology, Faculdade de Medicina de São José do Rio Preto, Brazil.ORCID https://orcid.org/0000-0003-4254-4711
Fernanda Veiga de GoesDepartment of Child Neurology, Instituto Nacional de Saúde da Mulher, Criança e do adolescente Fernandes Figueira (IFF) - Fiocruz, Rio de Janeiro, Brazil.ORCID https://orcid.org/0000-0001-9670-0631
Marcela Rodriguez de FreitasDepartment of Child Neurology, Instituto Nacional de Saúde da Mulher, Criança e do adolescente Fernandes Figueira (IFF) - Fiocruz, Rio de Janeiro, Brazil.ORCID https://orcid.org/0009-0000-7673-5538
Dafne Dain Gandelman HorovitzDepartment of Medical Genetics, Instituto Nacional de Saúde da Mulher, Criança e do adolescente Fernandes Figueira (IFF) - Fiocruz, Rio de Janeiro, Brazil.ORCID https://orcid.org/0000-0001-7726-4301
José Darlan Pinheiro DominguesNeuromuscular Brasil Medicina LTDA, Jundiaí, Brazil.ORCID https://orcid.org/0009-0006-2861-9456
Patricia Dumke da Silva MöllerDepartment of Child Neurology, Hospital da Criança de Brasília, Brazil.ORCID https://orcid.org/0000-0003-1246-8906
Fabiano Oliveira PoswarDepartment of Medical Genetics, Hospital de Clínicas de Porto Alegre, Brazil.ORCID https://orcid.org/0000-0002-0804-2876
Mariana Braatz KruegerDepartment of Child Neurology, Hospital Infantil Albert Sabin, Fortaleza, Brazil.ORCID https://orcid.org/0000-0001-9485-7520
Hélio van der LindenDepartment of Child Neurology, Centro de Reabilitação e Readaptação Henrique Santillo, Goiânia, Brazil.ORCID https://orcid.org/0000-0002-3123-2264
Bruna Ribeiro TorresDepartment of Child Neurology, Hospital Infantil João Paulo II, Belo Horizonte, Brazil.ORCID https://orcid.org/0000-0002-6431-6341
Karina Soares LoutfiDepartment of Child Neurology, Hospital Infantil João Paulo II, Belo Horizonte, Brazil.ORCID https://orcid.org/0000-0002-9444-3739
Roberta Borges Gomes KauarkDepartment of Neurology, Universidade Federal da Bahia, Salvador, Brazil.ORCID https://orcid.org/0000-0001-6269-5395
Luciana Midori InuzukaDepartment of Neurology, Hospital Sírio Libanês, São Paulo, Brazil.ORCID https://orcid.org/0000-0001-6840-5918
Katiane Sayão Souza CabralDepartment of Neurogenetics, Universidade de São Paulo, Brazil.ORCID https://orcid.org/0000-0003-1953-1517
Isabela OliveiraDepartment of Neurology, Hospital Santa Marcelina, São Paulo, Brazil.ORCID https://orcid.org/0009-0005-0136-2577
Maria Sheila G RochaDepartment of Neurology, Hospital Santa Marcelina, São Paulo, Brazil.ORCID https://orcid.org/0000-0003-4312-3994
Sarah CamargosMovement Disorders Clinic, Neurology Service and Internal Medicine Department, Hospital das Clínicas da Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.ORCID https://orcid.org/0000-0001-9829-6783
Debora Palma MaiaMovement Disorders Clinic, Neurology Service and Internal Medicine Department, Hospital das Clínicas da Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.ORCID https://orcid.org/0000-0003-3089-2911
Ricardo Oliveira Horta MacielMovement Disorders Clinic, Neurology Service and Internal Medicine Department, Hospital das Clínicas da Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.ORCID https://orcid.org/0000-0003-0027-280X
Francisco CardosoMovement Disorders Clinic, Neurology Service and Internal Medicine Department, Hospital das Clínicas da Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.ORCID https://orcid.org/0000-0003-0808-0116
Maria da Penha Ananias MoritaDepartment of Neurology, Faculdade de Medicina de São José do Rio Preto, Brazil.ORCID https://orcid.org/0000-0002-8087-5936
Érica Nogueira CoelhoDepartment of Neurology, Faculdade de Medicina de São José do Rio Preto, Brazil.ORCID https://orcid.org/0009-0005-6242-9464
Marcondes C FrançaDepartment of Neurology, Universidade Estadual de Campinas, Brazil; and.ORCID https://orcid.org/0000-0003-0898-2419
Pedro Lucas Grangeiro de Sá Barreto LimaDepartment of Neurology, Universidade Federal do Ceará, Fortaleza, Brazil.ORCID https://orcid.org/0000-0002-8517-2324
André Luiz Santos PessoaDepartment of Neurology, Universidade Federal do Ceará, Fortaleza, Brazil.ORCID https://orcid.org/0000-0003-0043-5373
Orlando G P BarsottiniDepartment of Neurology, Advanced General Neurology Unit, Universidade Federal de São Paulo, Brazil.ORCID https://orcid.org/0000-0002-0107-0831
Paulo Ribeiro NóbregaDepartment of Neurology, Universidade Federal do Ceará, Fortaleza, Brazil.ORCID https://orcid.org/0000-0002-0021-9358
José Luis PedrosoDepartment of Neurology, Advanced General Neurology Unit, Universidade Federal de São Paulo, Brazil.ORCID https://orcid.org/0000-0002-1672-8894
as the ATP1A3 Study Group

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and Objectives: Methods: We conducted a multicenter, cross-sectional study of individuals with Results: A total of 41 patients with Discussion: Our findings expand the clinical and genetic landscape of

Identifiers

PMID42666683
PMCPMC13523768

What OpenQuestion holds

Textmetadata
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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.