Evidence map›Paper›PMID 37185710›Full record

ArticleCurrent issues in molecular biology2023

Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).

Paola De Filippi, Edoardo Errichiello, Antonio Toscano, Tiziana Mongini, Maurizio Moggio, Sabrina Ravaglia, Massimiliano Filosto, Serenella Servidei, Olimpia Musumeci, Fabio Giannini and 22 more

Open access · goldAbstract read
In one paragraph

Article in Current issues in molecular biology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
1.2field-weighted citation impact, top 22% 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

4 citing papers in PubMed, 1 synthesis or guideline pooled it, 7 citations in OpenAlex.

  1. Pooled it
  2. Resistance-based exercise restores muscle health in dialysis patients.Journal of muscle research and cell motility · 2026
    Article
  3. Observational
  4. 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

32 authors at 17 institutions in 1 country.

Paola De FilippiIRCCS Mondino Foundation, 27100 Pavia, Italy.
Edoardo ErrichielloIRCCS Mondino Foundation, 27100 Pavia, Italy.
Antonio ToscanoERN-NMD Center of Messina for Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy.
Tiziana MonginiNeuromuscular Unit, Department of Neuroscience RLM, University of Torino, 10126 Torino, Italy.
Maurizio MoggioNeuromuscular and Rare Diseases Unit, BioBank of Skeletal Muscle, Peripheral Nerve, DNA and Dino Ferrari Center, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, 20100 Milan, Italy.
Sabrina RavagliaIRCCS Mondino Foundation, 27100 Pavia, Italy.ORCID 0000-0001-8749-3706
Massimiliano FilostoDepartment of Clinical and Experimental Sciences, NeMO-Brescia Clinical Center for Neuromuscular Diseases, University of Brescia, 25121 Brescia, Italy.ORCID 0000-0002-2852-7512
Serenella ServideiDepartment of Neuroscience, Catholic University, 00100 Rome, Italy.ORCID 0000-0001-8478-2799
Olimpia MusumeciDepartment of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy.ORCID 0000-0002-9208-1527
Fabio GianniniDepartment of Medical, Surgical and Neurological Sciences, University of Siena, "Le Scotte" Hospital, 53100 Siena, Italy.
Alberto PipernoFondazione IRCCS San Gerardo, Centro Ricerca Testamenti, Monza-European Reference Network-MetabERN, 20900 Monza, Italy.
Gabriele SicilianoDepartment of Clinical and Experimental Medicine, Neurological Clinics, University of Pisa, 56100 Pisa, Italy.
Giulia RicciDepartment of Clinical and Experimental Medicine, Neurological Clinics, University of Pisa, 56100 Pisa, Italy.
Antonio Di MuzioCentre for Neuromuscular Disease, CeSI, University "G. d'Annunzio", 66100 Chieti, Italy.
Miriam RigoldiDipartimento di Ricerca Malattie Rare, Istituto Mario Negri IRCCS, 24020 Ranica, Italy.
Paola ToninDepartment of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, 37100 Verona, Italy.
Michele Giovanni CroceIRCCS Mondino Foundation, 27100 Pavia, Italy.
Elena PegoraroDepartment of Neurosciences, University of Padova, 35100 Padova, Italy.ORCID 0000-0002-7740-4156
Luisa PolitanoCardiomiologia e Genetica Medica, Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, 80100 Napoli, Italy.
Lorenzo MaggiNeuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20100 Milano, Italy.ORCID 0000-0002-0932-5173
Roberta TeleseCentre for Neuromuscular Disease, CeSI, University "G. d'Annunzio", 66100 Chieti, Italy.
Alberto LerarioNeuromuscular and Rare Diseases Unit, BioBank of Skeletal Muscle, Peripheral Nerve, DNA and Dino Ferrari Center, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, 20100 Milan, Italy.ORCID 0000-0002-4093-9149
Cristina SancriccaDepartment of Neuroscience, Catholic University, 00100 Rome, Italy.
Liliana VercelliNeuromuscular Unit, Department of Neuroscience RLM, University of Torino, 10126 Torino, Italy.ORCID 0000-0001-8352-1087
Claudio SempliciniDepartment of Neurosciences, University of Padova, 35100 Padova, Italy.
Barbara PasanisiCardiomiologia e Genetica Medica, Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, 80100 Napoli, Italy.
Bruno BembiRegional Coordinator Centre for Rare Diseases, University Hospital "Santa Maria della Misericordia", 33100 Udine, Italy.
Andrea DardisRegional Coordinator Centre for Rare Diseases, University Hospital "Santa Maria della Misericordia", 33100 Udine, Italy.
Ilaria PalmieriIRCCS Mondino Foundation, 27100 Pavia, Italy.ORCID 0000-0002-0304-7299
Cristina CeredaCenter of Functional Genomic and Rare Diseases-Buzzi Children's Hospital, 20100 Milano, Italy.ORCID 0000-0001-9571-0862
Enza Maria ValenteIRCCS Mondino Foundation, 27100 Pavia, Italy.ORCID 0000-0002-0600-6820
Cesare DanesinoDepartment of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.ORCID 0000-0002-8400-5671
University of Pavia · ITFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico · ITOspedale Santa Maria della Misericordia di Udine · ITUniversità Cattolica del Sacro Cuore · ITUniversity of Chieti-Pescara · ITUniversity of Messina · ITUniversity of Naples Federico II · ITUniversity of Padua · ITUniversity of Pisa · ITUniversity of Turin · ITAzienda Ospedaliera San Gerardo · ITFondazione IRCCS Istituto Neurologico Carlo Besta · ITMario Negri Institute for Pharmacological Research · ITOspedale dei Bambini Vittore Buzzi · ITUniversity of Brescia · ITUniversity of Siena · ITUniversity of Verona · IT

Funding

Ministry of Education, Universities and Research initiative "Dipartimenti di Eccellenza (2018-2022)
6 · The paper itself

Abstract

Pompe disease (PD) is a monogenic autosomal recessive disorder caused by biallelic pathogenic variants of the

Indexed as

exonic variantsgenetic modifiersgenotype–phenotype correlatesglycogen catabolismglycogen synthesislate-onset Pompe disease (LOPD)

Identifiers

PMID37185710
PMCPMC10136686
OpenAlexW4362588526

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.