Evidence map›Paper›PMID 36553628›Full record

ArticleGenes2022

A Patient with Corticobasal Syndrome and Progressive Non-Fluent Aphasia (CBS-PNFA), with Variants in

Katarzyna Gaweda-Walerych, Emilia J Sitek, Małgorzata Borczyk, Ewa Narożańska, Bogna Brockhuis, Michał Korostyński, Michał Schinwelski, Mariusz Siemiński, Jarosław Sławek, Cezary Zekanowski

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2022. 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
0.5field-weighted citation impact, top 37% 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. Review
  3. Article
  4. Article
  5. Review
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

10 authors at 4 institutions in 1 country.

Katarzyna Gaweda-WalerychDepartment of Neurogenetics and Functional Genomics, Mossakowski Medical Research Institute, Polish Academy of Sciences, 02-106 Warsaw, Poland.ORCID 0000-0001-8670-1200
Emilia J SitekLaboratory of Clinical Neuropsychology, Neurolinguistics and Neuropsychotherapy, Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, 80-211 Gdansk, Poland.ORCID 0000-0003-4141-072X
Małgorzata BorczykLaboratory of Pharmacogenomics, Department of Molecular Pharmacology, Maj Institute of Pharmacology Polish Academy of Sciences, 31-343 Krakow, Poland.
Ewa NarożańskaNeurology Department, St. Adalbert Hospital, Copernicus PL, 80-462 Gdansk, Poland.
Bogna BrockhuisDepartment of Nuclear Medicine, Faculty of Health Sciences, Medical University of Gdansk, 80-214 Gdansk, Poland.
Michał KorostyńskiLaboratory of Pharmacogenomics, Department of Molecular Pharmacology, Maj Institute of Pharmacology Polish Academy of Sciences, 31-343 Krakow, Poland.ORCID 0000-0002-4273-7401
Michał SchinwelskiNeurology Department, St. Adalbert Hospital, Copernicus PL, 80-462 Gdansk, Poland.ORCID 0000-0003-3695-2612
Mariusz SiemińskiDepartment of Emergency Medicine, Faculty of Health Sciences, Medical University of Gdansk, 80-210 Gdansk, Poland.ORCID 0000-0001-8219-2912
Jarosław SławekNeurology Department, St. Adalbert Hospital, Copernicus PL, 80-462 Gdansk, Poland.
Cezary ZekanowskiDepartment of Neurogenetics and Functional Genomics, Mossakowski Medical Research Institute, Polish Academy of Sciences, 02-106 Warsaw, Poland.ORCID 0000-0001-7332-8494
Copernicus Memorial Hospital · PLGdańsk Medical University · PLMaj Institute of Pharmacology · PLPolish Academy of Sciences · PL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Our aim was to analyze the phenotypic-genetic correlations in a patient diagnosed with early onset corticobasal syndrome with progressive non-fluent aphasia (CBS-PNFA), characterized by predominant apraxia of speech, accompanied by prominent right-sided upper-limb limb-kinetic apraxia, alien limb phenomenon, synkinesis, myoclonus, mild cortical sensory loss, and right-sided hemispatial neglect. Whole-exome sequencing (WES) identified rare single heterozygous variants in

Indexed as

AphasiaApraxiasCorticobasal DegenerationHepatolenticular DegenerationCopper-Transporting ATPasesDNA HelicasesForkhead Transcription FactorsHumansLDL-Receptor Related ProteinsMembrane Transport ProteinsMultifunctional EnzymesRepressor ProteinsRNA HelicasesSyndromeATP7B protein, humanCopper-Transporting ATPasesDNA HelicasesForkhead Transcription FactorsFOXP1 protein, humanLDL-Receptor Related ProteinsMembrane Transport ProteinsMultifunctional EnzymesRepressor ProteinsRNA HelicasesSETX protein, humanSORL1 protein, humanATP7Bcorticobasal syndromeFOXP1mitochondrial network analysisprogressive non-fluent aphasia (CBS-PNFA, CBS-NAV)SETXSORL1splicing analysiswhole exome sequencing (WES)

Identifiers

PMID36553628
PMCPMC9778325
OpenAlexW4312195834

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.