Evidence map›Paper›PMID 40562529›Full record

ArticleJournal of medical genetics2025

New variants and genotype-phenotype correlation in

Rosangela Ferese, Antonio Suppa, Rosa Campopiano, Simona Scala, Federica Sammarone, Luana Di Pilla, Alba Di Pardo, Maria Antonietta Chiaravalloti, Anna Maria Griguoli, Milena Cannella and 14 more

Abstract read
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In one paragraph

Article in Journal of medical genetics, 2025. 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

24 authors.

Rosangela Ferese *IRCCS Neuromed, Pozzilli, Italy.ORCID http://orcid.org/0000-0001-8899-0309
Antonio Suppa *IRCCS Neuromed, Pozzilli, Italy.
Rosa CampopianoIRCCS Neuromed, Pozzilli, Italy.
Simona ScalaIRCCS Neuromed, Pozzilli, Italy.
Federica SammaroneIRCCS Neuromed, Pozzilli, Italy.
Luana Di PillaIRCCS Neuromed, Pozzilli, Italy.
Alba Di PardoIRCCS Neuromed, Pozzilli, Italy.
Maria Antonietta ChiaravallotiIRCCS Neuromed, Pozzilli, Italy.
Anna Maria GriguoliIRCCS Neuromed, Pozzilli, Italy.
Milena CannellaIRCCS Neuromed, Pozzilli, Italy.
Carmelo D'AlessioIRCCS Neuromed, Pozzilli, Italy.
Marianna StortoIRCCS Neuromed, Pozzilli, Italy.
Mirco FanelliDepartment of Biomolecular Sciences, University of Urbino, Urbino, Italy.
Alessandro ZampognaDepartment of Human Neurosciences, University of Rome La Sapienza, Rome, Italy.
Martina PateraDepartment of Human Neurosciences, University of Rome La Sapienza, Rome, Italy.
Maurizio InghilleriDepartment of Human Neurosciences, University of Rome La Sapienza, Rome, Italy.
Marco CeccantiDepartment of Human Neurosciences, University of Rome La Sapienza, Rome, Italy.
Chiara CambieriDepartment of Human Neurosciences, University of Rome La Sapienza, Rome, Italy.
Fabio ButtariIRCCS Neuromed, Pozzilli, Italy.
Cristina PeconiGenomic Medicine Laboratory-UILDM, Fondazione Santa Lucia Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
Emiliano GiardinaGenomic Medicine Laboratory-UILDM, Fondazione Santa Lucia Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.ORCID http://orcid.org/0000-0002-2741-5009
Stefania ZampattiGenomic Medicine Laboratory-UILDM, Fondazione Santa Lucia Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
Diego CentonzeIRCCS Neuromed, Pozzilli, Italy.
Stefano GambardellaIRCCS Neuromed, Pozzilli, Italy stefano.gambardella@uniurb.it.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundVariants in the Kinesin-family member 5A (

methods390 patients (220 hereditary spastic paraplegia, 80 Charcot-Marie-Tooth disease type 2 and 90 amyotrophic lateral sclerosis) have been selected for next-generation sequencing Clinical Exome.

resultsFive patients have been found to carry causative variants in the

conclusionThese data confirm the complex genotype-phenotype correlation, both in terms of clinical heterogeneity associated with a specific domain and variability within the members of the same family, but also suggest a strong genotype-phenotype correlation, both intrafamiliar and interfamiliar, produced by a few variants.

Indexed as

Amyotrophic Lateral SclerosisCharcot-Marie-Tooth DiseaseGenetic Association StudiesKinesinsMutationSpastic Paraplegia, HereditaryAdultAgedCohort StudiesFemaleGenotypeHumansItalyMaleMiddle AgedPedigreeKIF5A protein, humanKinesinsExome SequencingGenetic Diseases, InbornNeurodegenerative Diseases

Identifiers

PMID40562529
PMCPMC12505037

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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.