ArticleInternational journal of molecular sciences2018
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.
Open access · goldAbstract read
In one paragraph
Article in International journal of molecular sciences, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 3 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed, 3 pooled it
6.5field-weighted citation impact, top 3% of its field
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.
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.
Who cites it
25 citing papers in PubMed, 3 syntheses or guidelines pooled it, 56 citations in OpenAlex.
- Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG).International journal of molecular sciences · 2022Pooled it
- Calcium channelopathies and intellectual disability: a systematic review.Orphanet journal of rare diseases · 2021Pooled it
- Inherited Metabolic Causes of Stroke in Children: Mechanisms, Types, and Management.Frontiers in neurology · 2021Pooled it
- Mitochondrial and lysosomal dysfunctions might be involved in the pathogenesis of the CACNA1A-related neurodevelopmental disorders according to in vitro studies.Biological research · 2025Article
- Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDG.Scientific reports · 2025Article
- Immunopathology in PMM2-CDG: Defective glycosylation impact in the TNFα -TNFR1 signalling pathway.Frontiers in immunology · 2025Article
- Revisiting the immunopathology of congenital disorders of glycosylation: an updated review.Frontiers in immunology · 2024Review
- Glycosylation and behavioral symptoms in neurological disorders.Translational psychiatry · 2023Review
- Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects.Molecular genetics and metabolism · 2023Review
- Hemostatic defects in congenital disorders of glycosylation.Research and practice in thrombosis and haemostasis · 2023Article
- Stroke-like Episodes in Inherited Neurometabolic Disorders.Metabolites · 2022Review
- Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation.Frontiers in immunology · 2022Article
- Article
- Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer.Journal of personalized medicine · 2021Article
- Article
- Congenital Disorders of Glycosylation from a Neurological Perspective.Brain sciences · 2021Review
- Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence.Frontiers in pediatrics · 2021Article
- Treatment Options in Congenital Disorders of Glycosylation.Frontiers in genetics · 2021Review
- Adaptive selection drives TRPP3 loss-of-function in an Ethiopian population.Scientific reports · 2020Article
- New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach.Journal of clinical medicine · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 9 institutions in 1 country.
Mercè Izquierdo-SerraLaboratori de Fisiologia Molecular, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, 08003 Barcelona, Spain. merce.izquierdo@upf.edu.ORCID 0000-0002-3524-8052
Antonio F Martínez-MonsenyGenetic Medicine and Rare Diseases Pediatric Institute, Hospital Sant Joan de Déu, 08002 Barcelona, Spain. afmartinez@hsjdbcn.org.
Laura LópezUnit of Child Neurology, Department of Pediatrics, Hospital Infantil Universitario Niño Jesús de Madrid, 28009 Madrid, Spain. laural.marin@hotmail.com.
Julia Carrillo-GarcíaLaboratori de Fisiologia Molecular, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, 08003 Barcelona, Spain. julia.carrillo@upf.edu.
Albert EdoLaboratori de Fisiologia Molecular, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, 08003 Barcelona, Spain. albert.edo01@estudiant.upf.edu.
Juan Darío Ortigoza-EscobarNeuropediatric, Radiology and Clinical Biochemistry Departments, Hospital Sant Joan de Déu, 08002 Barcelona, Spain. jortigoza@sjdhospitalbarcelona.org.
Óscar GarcíaPediatric Department, Hospital Virgen de la Salud, 45004 Toledo, Spain. oscargarcam@hotmail.com.
Ramón Cancho-CandelaPediatric Neurology Unit, Pediatrics Department, Hospital Universitario Rio Hortega, 47012 Valladolid, Spain. rcanchoc@saludcastillayleon.es.ORCID 0000-0001-6561-2209
M Llanos Carrasco-MarinaNeuropediatric Department, Pediatric Service, Hospital Universitario Severo Ochoa, Leganés, 28009 Madrid, Spain. maria.llanos@salud.madrid.org.
Luis G Gutiérrez-SolanaUnit of Child Neurology, Department of Pediatrics, Hospital Infantil Universitario Niño Jesús de Madrid, 28009 Madrid, Spain. lgutierrez.hnjs@salud.madrid.org.
Daniel CuadrasStatistics Department, Fundació Sant Joan de Déu, 08002 Barcelona, Spain. dcuadras@fsjd.org.ORCID 0000-0001-8780-1764
Jordi MuchartNeuropediatric, Radiology and Clinical Biochemistry Departments, Hospital Sant Joan de Déu, 08002 Barcelona, Spain. jmuchart@hsjdbcn.org.
Raquel MonteroNeuropediatric, Radiology and Clinical Biochemistry Departments, Hospital Sant Joan de Déu, 08002 Barcelona, Spain. rmontero@hsjdbcn.org.
Rafael ArtuchNeuropediatric, Radiology and Clinical Biochemistry Departments, Hospital Sant Joan de Déu, 08002 Barcelona, Spain. rartuch@hsjdbcn.org.
Celia Pérez-CerdáCentro de Diagnóstico de Enfermedades Moleculares (CEDEM), Universidad Autónoma de Madrid (UAM), U-746 Centre for Biomedical Research on Rare Diseases (CIBER-ER) Madrid, Instituto de Salud Carlos III, IdiPAZ, 28009 Madrid, Spain. cpcerda@cbm.csic.es.
Belén PérezCentro de Diagnóstico de Enfermedades Moleculares (CEDEM), Universidad Autónoma de Madrid (UAM), U-746 Centre for Biomedical Research on Rare Diseases (CIBER-ER) Madrid, Instituto de Salud Carlos III, IdiPAZ, 28009 Madrid, Spain. bperez@cbm.csic.es.
Belén Pérez-DueñasNeuropediatric, Radiology and Clinical Biochemistry Departments, Hospital Sant Joan de Déu, 08002 Barcelona, Spain. bperez@hsjdbcn.org.
Alfons MacayaGrup de Recerca en Neurologia Pediàtrica, Institut de Recerca Vall d'Hebron, Universitat Autònoma de Barcelona, Secció de Neurologia Pediàtrica, Hospital Universitari Vall d'Hebron, 08002 Barcelona, Spain. amacaya@vhebron.net.
José M Fernández-FernándezLaboratori de Fisiologia Molecular, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, 08003 Barcelona, Spain. jmanuel.fernandez@upf.edu.ORCID 0000-0003-2330-8449
Mercedes SerranoGenetic Medicine and Rare Diseases Pediatric Institute, Hospital Sant Joan de Déu, 08002 Barcelona, Spain. mserrano@hsjdbcn.org.ORCID 0000-0002-2056-2428
Hospital Sant Joan de Déu Barcelona · ESUniversitat Pompeu Fabra · ESHospital Infantil Universitario Niño Jesús · ESInstituto de Salud Carlos III · ESHospital Universitario Río Hortega · ESHospital Universitario Severo Ochoa · ESHospital Virgen de la Salud · ESSant Joan de Déu Research Foundation · ESUniversitat Autònoma de Barcelona · ES
Funding
No grant is acknowledged in the PubMed record.
Abstract
Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and may complicate the course of channelopathies related to Familial Hemiplegic Migraine (FHM) caused by mutations in
Indexed as
AdolescentAmino Acid SequenceCalcium ChannelsCalcium Channels, N-TypeCerebellar DiseasesChannelopathiesChildChild, PreschoolElectroencephalographyFemaleGlycosylationHEK293 CellsHumansIon Channel GatingMagnetic Resonance ImagingMaleCACNA1A protein, humanCalcium ChannelsCalcium Channels, N-TypephosphomannomutasePhosphotransferases (Phosphomutases)TunicamycinataxiaCaV2.1 voltage-gated calcium channelcerebellumcongenital disorders of glycosylationmagentic resonance Imaging (MRI)stroke-like
Identifiers
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.