Article in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.5field-weighted citation impact, top 39% 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
2 citing papers in PubMed, 4 citations in OpenAlex.
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
13 authors at 3 institutions in 2 countries.
Filomena NapolitanoDepartment of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Inter University Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
Giorgia BrunoDepartment of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Inter University Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.ORCID 0000-0001-9388-9336
Chiara TerraccianoDepartment of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Inter University Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.ORCID 0000-0002-1853-5578
Giuseppina FranzeseDepartment of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Inter University Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
Federica Scotto di CarloInstitute of Genetics and Biophysics "Adriano Buzzati-Traverso", National Research Council, 80131 Naples, Italy.ORCID 0000-0003-1797-9051
Elisabetta SignorielloDepartment of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Inter University Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
Paolo De BlasiisDepartment of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Inter University Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.ORCID 0000-0002-1317-7994
Stefano NavarroInstitute of Genetics and Biophysics "Adriano Buzzati-Traverso", National Research Council, 80131 Naples, Italy.
Mariarosa Anna Beatrice MeloneDepartment of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Inter University Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.ORCID 0000-0002-7213-9277
Simone SampaoloDepartment of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Inter University Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.ORCID 0000-0002-1383-6638
Teresa EspositoInstitute of Genetics and Biophysics "Adriano Buzzati-Traverso", National Research Council, 80131 Naples, Italy.ORCID 0000-0002-7879-8441
University of Campania "Luigi Vanvitelli" · ITIstituto Neurologico Mediterraneo · ITInstitute of Genetics and Biophysics · IT
Funding
Ministero della Salute Ricerca correnteMinistero dello Sviluppo Economico F/050011/01/X32Regione Campania not available
6 · The paper itself
Abstract
Pompe disease is an autosomal recessive disorder caused by a deficiency in the enzyme acid alpha-glucosidase. The late-onset form of Pompe disease (LOPD) is characterized by a slowly progressing proximal muscle weakness, often involving respiratory muscles. In LOPD, the levels of GAA enzyme activity and the severity of the clinical pictures may be highly variable among individuals, even in those who harbour the same combination of
Indexed as
AdultAgedalpha-GlucosidasesAutophagyEnzyme Replacement TherapyFamilyFemaleGenetic VariationGlycogen Storage Disease Type IIHumansItalyMaleMiddle AgedMuscle, SkeletalMutationPedigreealpha-GlucosidasesGAA protein, humanautophagy genesgenetic modifierslate-onset form of Pompe diseasemodifiers factorsskeletal muscle biopsieswhole exome sequencing
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.
Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families. · full record | OpenQuestion