Associated Papers
A founder variant in Tunisian PMM2-CDG patients: An integrated clinical, radiological, biochemical, and genetic study.
Kraoua L et al.
Molecular Genetics and Metabolism, 2026
Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring.
Epifani F et al.
Journal of Inherited Metabolic Disease, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes.
Verberkmoes S et al.
Molecular Genetics and Metabolism, 2025
A comprehensive update of genotype-phenotype correlations in PMM2-CDG: insights from molecular and structural analyses.
Oliveira T et al.
Orphanet Journal of Rare Diseases, 2025
A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population.
Lamilla J et al.
Diagnostics (basel, Switzerland), 2025
Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2-CDG).
Weixel T et al.
Journal of Inherited Metabolic Disease, 2025
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.
Holubova V et al.
Journal of Inherited Metabolic Disease, 2025
Case Report: Decoding genetic risks of vascular parkinsonism: a case series.
Shalash A et al.
Frontiers in Genetics, 2025
Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG.
Gallego D et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024
A complement C4-derived glycopeptide is a biomarker for PMM2-CDG.
Garapati K et al.
Jci Insight, 2024
Revisiting the immunopathology of congenital disorders of glycosylation: an updated review.
Pascoal C et al.
Frontiers in Immunology, 2024
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.
Pajusalu S et al.
Human Mutation, 2024
Cysteine mutations impair the structural stability of phosphomannomutase 2 (PMM2) in glycosylation-associated metabolic disorders.
Pan Y et al.
Genes & Diseases, 2023
Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation.
De Graef D et al.
Molecular Genetics and Metabolism, 2023
Cysteine Pathogenic Variants of PMM2 Are Sensitive to Environmental Stress with Loss of Structural Stability.
Yu F et al.
Oxidative Medicine and Cellular Longevity, 2023
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
Abu Bakar N et al.
Journal of Inherited Metabolic Disease, 2022
Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies.
Parrado A et al.
Glycobiology, 2022
Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures.
Briso-Montiano A et al.
Journal of Inherited Metabolic Disease, 2022
Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice.
Millar Vernetti P et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).
Pettinato F et al.
Cerebellum (london, England), 2021
Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population.
Lipiński P et al.
Molecular Genetics and Metabolism Reports, 2021
D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial.
Witters P et al.
Orphanet Journal of Rare Diseases, 2021
Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study.
Witters P et al.
Orphanet Journal of Rare Diseases, 2021
Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up.
Starosta RT et al.
Orphanet Journal of Rare Diseases, 2021
Identification of potential inhibitors against pathogenic missense mutations of PMM2 using a structure-based virtual screening approach.
Thirumal Kumar D et al.
Journal of Biomolecular Structure & Dynamics, 2021
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.
Gauquelin L et al.
Movement Disorders Clinical Practice, 2020
In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report.
Doroftei B et al.
Genes, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
N-Glycosylation influences human corticosteroid-binding globulin measurements.
Hill LA et al.
Endocrine Connections, 2019
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
Witters P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R et al.
Journal of Inherited Metabolic Disease, 2019
The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers.
Citro V et al.
International Journal of Molecular Sciences, 2018
CDG Therapies: From Bench to Bedside.
Brasil S et al.
International Journal of Molecular Sciences, 2018
Protein misfolding diseases: Prospects of pharmacological treatment.
Gámez A et al.
Clinical Genetics, 2018
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.
Schiff M et al.
Journal of Medical Genetics, 2017
Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia.
Rossi M et al.
Journal of the Neurological Sciences, 2017
Three families with mild PMM2-CDG and normal cognitive development.
Vals MA et al.
American Journal of Medical Genetics. Part A, 2017
Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.
Al Teneiji A et al.
Molecular Genetics and Metabolism, 2017
Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.
Yuste-Checa P et al.
Human Mutation, 2017
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.
van de Warrenburg BP et al.
European Journal of Human Genetics : Ejhg, 2016
Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect.
de la Morena-Barrio ME et al.
Journal of Thrombosis and Haemostasis : Jth, 2016
A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2.
Chan B et al.
Human Molecular Genetics, 2016
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
Serrano M et al.
Orphanet Journal of Rare Diseases, 2015