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
Letter to the editors: Supervised machine learning prediction of genotype-phenotype correlations in PMM2-CDG, in response to Pajusalu et al. [].
Boonnak J
Molecular Genetics and Metabolism, 2025
Dynamicasome-a molecular dynamics-guided and AI-driven pathogenicity prediction catalogue for all genetic mutations.
Islam NN et al.
Communications Biology, 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
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
Immunopathology in PMM2-CDG: Defective glycosylation impact in the TNFα -TNFR1 signalling pathway.
Pascoal C et al.
Frontiers in Immunology, 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
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis.
Cirnigliaro L et al.
Orphanet Journal of Rare Diseases, 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
PMM2 -CDG T237M Mutation in a Patient with Cerebral Palsy-Like Phenotypes Reported from South India.
Sreedevi N et al.
Global Medical Genetics, 2023
Clocking Epilepsies: A Chronomodulated Strategy-Based Therapy for Rhythmic Seizures.
Sun S et al.
International Journal of Molecular Sciences, 2023
Chemical Therapies for Congenital Disorders of Glycosylation.
Sosicka P et al.
Acs Chemical Biology, 2022
Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.
Heddar A et al.
Ebiomedicine, 2022
Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency
Vurallı D et al.
Journal of Clinical Research in Pediatric Endocrinology, 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
PMM2-CDG and nephrotic syndrome: A case report.
Banderali G et al.
Clinical Case Reports, 2022
Assessing the effects of PMM2 variants on protein stability.
Quelhas D et al.
Molecular Genetics and Metabolism, 2021
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
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
New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach.
Francisco R et al.
Journal of Clinical Medicine, 2020
Hyperkinetic movement disorders in congenital disorders of glycosylation.
Mostile G et al.
European Journal of Neurology, 2019
In vitro treatment of congenital disorder of glycosylation type Ia using PLGA nanoparticles loaded with GDP‑Man.
Bortot B et al.
International Journal of Molecular Medicine, 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
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).
Martínez-Monseny AF et al.
Annals of Neurology, 2019
Protein misfolding diseases: Prospects of pharmacological treatment.
Gámez A et al.
Clinical Genetics, 2018
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.
Izquierdo-Serra M et al.
International Journal of Molecular Sciences, 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
A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG).
Serrano NL et al.
Orphanet Journal of Rare Diseases, 2017
Three families with mild PMM2-CDG and normal cognitive development.
Vals MA et al.
American Journal of Medical Genetics. Part A, 2017
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
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.
Barone R et al.
Journal of Neurology, 2015
PMM2-CDG: phenotype and genotype in four affected family members.
Bortot B et al.
Gene, 2013
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.
Vega AI et al.
Journal of Inherited Metabolic Disease, 2011
The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations.
Pérez B et al.
Jimd Reports, 2011
Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.
Vega AI et al.
Human Mutation, 2009
Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype.
Coman D et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2007
A new insight into PMM2 mutations in the French population.
Le Bizec C et al.
Human Mutation, 2005
Congenital disorder of glycosylation type Ia in a 6-year-old girl with a mild intellectual phenotype: two novel PMM2 mutations.
Coman D et al.
Journal of Inherited Metabolic Disease, 2005
Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion.
Schollen E et al.
Journal of Medical Genetics, 2004