Evidence map›Paper›PMID 39201732›Full record

ArticleInternational journal of molecular sciences2024

Identification and Characterization of Novel Founder Mutations in

Derek Atkinson, Teodora Chamova, Ayse Candayan, Kristina Kastreva, Ognian Asenov, Ivan Litvinenko, Alejandro Estrada-Cuzcano, Els De Vriendt, Georgi Kukushev, Ivailo Tournev and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Review
  3. 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

11 authors.

Derek AtkinsonMolecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, 2610 Antwerp, Belgium.ORCID 0000-0001-6097-3670
Teodora ChamovaDepartment of Neurology, Medical University-Sofia, 1431 Sofia, Bulgaria.ORCID 0000-0001-5142-5007
Ayse CandayanMolecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, 2610 Antwerp, Belgium.ORCID 0000-0002-3528-2293
Kristina KastrevaDepartment of Neurology, Medical University-Sofia, 1431 Sofia, Bulgaria.
Ognian AsenovDepartment of Neurology, Medical University-Sofia, 1431 Sofia, Bulgaria.
Ivan LitvinenkoDepartment of Pediatrics, Medical University-Sofia, 1431 Sofia, Bulgaria.
Alejandro Estrada-CuzcanoMolecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, 2610 Antwerp, Belgium.ORCID 0000-0001-9868-2465
Els De VriendtMolecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, 2610 Antwerp, Belgium.ORCID 0000-0002-1464-3846
Georgi KukushevDepartment of Otorhinolaryngology, Military Medical Academy-Sofia, 1606 Sofia, Bulgaria.
Ivailo TournevDepartment of Neurology, Medical University-Sofia, 1431 Sofia, Bulgaria.
Albena JordanovaMolecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, 2610 Antwerp, Belgium.ORCID 0000-0002-3833-3754

Funding

American Muscular Dystrophy Association grant 175816 to A.J.Belgian Association Against Neuromuscular Diseases (ABMM) grants to A.J. and A.C.Bulgarian National Recovery and Resilience Plan, financed by the National Science Fund of Bulgaria (BNSF) BG-RRP-2.004-0004-C01 to A.J. and I.T.European Union's Horizon 2020 research and innovation programme under the Marie Sklodowska-Curie grant agreement no. 101108071 to A.C.French Muscular Dystrophy Association 16179 and 23708 to A.J.; 24894 to A.C.Research Foundation - Flanders doctoral fellowship 1128517N to D.A.Research Foundation - Flanders postdoctoral fellowship 12AIV24N to A.C. and 12R3215N A.E.C.Research Foundation - Flanders research grants G048220N and G0A2122N to A.J.University of Antwerp to A.J.
6 · The paper itself

Abstract

Charcot-Marie-Tooth neuropathy type 4D (CMT4D) is a rare genetic disorder of the peripheral nervous system caused by biallelic mutations in the N-Myc Downstream Regulated 1 gene (

Indexed as

Cell Cycle ProteinsCharcot-Marie-Tooth DiseaseFounder EffectIntracellular Signaling Peptides and ProteinsAdolescentAdultBulgariaChildFemaleHaplotypesHumansMaleMiddle AgedMutationN-myc Downstream-Regulated Gene 1 ProteinYoung AdultCell Cycle ProteinsIntracellular Signaling Peptides and ProteinsN-myc Downstream-Regulated Gene 1 ProteinCharcot–Marie–Tooth neuropathy type 4Ddemyelinating neuropathyfounder mutationNDRG1non-Roma ethnicity

Identifiers

PMID39201732
PMCPMC11354586

What OpenQuestion holds

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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.