Evidence map›Paper›PMID 38685975›Full record

ArticleNeurology. Genetics2024

Christina Votsi, Marios Tomazou, Paschalis Nicolaou, Marios C Pantzaris, Giorgos Pitsas, Archontia Adamou, Kleopas A Kleopa, Eleni Zamba-Papanicolaou, Kyproula Christodoulou

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. TheBrain communications · 2025
    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

9 authors.

Christina VotsiFrom the Neurogenetics Department (C.V., P.N., K.C.); Bioinformatics Department (M.T.); Neuroimmunology Department (M.C.P., G.P.); Neuroepidemiology Department (A.A.); Neuroscience Department and Center for Neuromascular Disorders (K.A.K.); and Neuroepidemiology Department and Center for Neuromascular Disorders (E.Z.-P.), The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Marios TomazouFrom the Neurogenetics Department (C.V., P.N., K.C.); Bioinformatics Department (M.T.); Neuroimmunology Department (M.C.P., G.P.); Neuroepidemiology Department (A.A.); Neuroscience Department and Center for Neuromascular Disorders (K.A.K.); and Neuroepidemiology Department and Center for Neuromascular Disorders (E.Z.-P.), The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Paschalis NicolaouFrom the Neurogenetics Department (C.V., P.N., K.C.); Bioinformatics Department (M.T.); Neuroimmunology Department (M.C.P., G.P.); Neuroepidemiology Department (A.A.); Neuroscience Department and Center for Neuromascular Disorders (K.A.K.); and Neuroepidemiology Department and Center for Neuromascular Disorders (E.Z.-P.), The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Marios C PantzarisFrom the Neurogenetics Department (C.V., P.N., K.C.); Bioinformatics Department (M.T.); Neuroimmunology Department (M.C.P., G.P.); Neuroepidemiology Department (A.A.); Neuroscience Department and Center for Neuromascular Disorders (K.A.K.); and Neuroepidemiology Department and Center for Neuromascular Disorders (E.Z.-P.), The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Giorgos PitsasFrom the Neurogenetics Department (C.V., P.N., K.C.); Bioinformatics Department (M.T.); Neuroimmunology Department (M.C.P., G.P.); Neuroepidemiology Department (A.A.); Neuroscience Department and Center for Neuromascular Disorders (K.A.K.); and Neuroepidemiology Department and Center for Neuromascular Disorders (E.Z.-P.), The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Archontia AdamouFrom the Neurogenetics Department (C.V., P.N., K.C.); Bioinformatics Department (M.T.); Neuroimmunology Department (M.C.P., G.P.); Neuroepidemiology Department (A.A.); Neuroscience Department and Center for Neuromascular Disorders (K.A.K.); and Neuroepidemiology Department and Center for Neuromascular Disorders (E.Z.-P.), The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Kleopas A KleopaFrom the Neurogenetics Department (C.V., P.N., K.C.); Bioinformatics Department (M.T.); Neuroimmunology Department (M.C.P., G.P.); Neuroepidemiology Department (A.A.); Neuroscience Department and Center for Neuromascular Disorders (K.A.K.); and Neuroepidemiology Department and Center for Neuromascular Disorders (E.Z.-P.), The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Eleni Zamba-PapanicolaouFrom the Neurogenetics Department (C.V., P.N., K.C.); Bioinformatics Department (M.T.); Neuroimmunology Department (M.C.P., G.P.); Neuroepidemiology Department (A.A.); Neuroscience Department and Center for Neuromascular Disorders (K.A.K.); and Neuroepidemiology Department and Center for Neuromascular Disorders (E.Z.-P.), The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Kyproula ChristodoulouFrom the Neurogenetics Department (C.V., P.N., K.C.); Bioinformatics Department (M.T.); Neuroimmunology Department (M.C.P., G.P.); Neuroepidemiology Department (A.A.); Neuroscience Department and Center for Neuromascular Disorders (K.A.K.); and Neuroepidemiology Department and Center for Neuromascular Disorders (E.Z.-P.), The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.ORCID https://orcid.org/0000-0002-0622-7594

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and Objectives: The intronic biallelic AAGGG expansion in the replication factor C subunit 1 ( Methods: Cypriot undiagnosed patients, in the majority presenting at least with cerebellar ataxia and non-neurologic disease controls, were included in this study. A combination of conventional methods was used, including standard PCR flanking the repeat region, repeat-primed PCR, long-range PCR, and Sanger sequencing. Bioinformatics analysis of already available in-house short-read whole-genome sequencing data was also performed. Results: A large group of undiagnosed patients (n = 194), mainly presenting with pure ataxia or with ataxia accompanied by neuropathy or additional symptoms, as well as a group of non-disease controls (n = 100), were investigated in the current study. Our findings include the diagnosis of 10 patients homozygous for the pathogenic AAGGG expansion and a high percentage of heterozygous AAGGG carriers in both groups. The benign AAAAG Discussion: Our findings indicate the existence of genetic heterogeneity regarding the

Identifiers

PMID38685975
PMCPMC11057437

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Registered trials

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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.