Associated Papers
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
Cardiomyopathy genetic testing: insights into demographics, counseling, and cascade screening.
Bui QM et al.
Future Cardiology, 2025
Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia.
Al-Hussaini A et al.
Plos One, 2025
Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.
Bonfiglio F et al.
Ebiomedicine, 2023
Nutritional management of glycogen storage disease type III: a case report and a critical appraisal of the literature.
Massimino E et al.
Frontiers in Nutrition, 2023
Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
Dellefave-Castillo LM et al.
Jama Cardiology, 2022
The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III.
Wang J et al.
Bmc Pediatrics, 2022
A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III.
Hijazi G et al.
Molecular Genetics and Metabolism Reports, 2021
Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literature.
Paschall A et al.
Molecular Genetics and Metabolism, 2021
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing.
Beyzaei Z et al.
Scientific Reports, 2021
Novel variants in Turkish patients with glycogen storage disease.
Çakar NE et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.
Sperb-Ludwig F et al.
Molecular Genetics & Genomic Medicine, 2019
Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment.
Laforêt P et al.
Acta Neuropathologica Communications, 2019
Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients.
Abdullah IS et al.
Genes & Genomics, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Neuromuscular Involvement in Glycogen Storage Disease Type III in Fifty Tunisian Patients: Phenotype and Natural History in Young Patients.
Ben Chehida A et al.
Neuropediatrics, 2019
A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: an observational study of 50 patients.
Ben Chehida A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
History of settlement of villages from Central Tunisia by studying families sharing a common founder Glycogenosis type III mutation.
Rhouma FB et al.
Mitochondrial Dna. Part A, Dna Mapping, Sequencing, and Analysis, 2016
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.
Sentner CP et al.
Journal of Inherited Metabolic Disease, 2016
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.
Yubero D et al.
Plos One, 2016
Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.
Ben Rhouma F et al.
Molecular Biology Reports, 2013
A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect.
Mili A et al.
Clinical Genetics, 2012
Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa.
Horvath JJ et al.
Molecular Genetics and Metabolism, 2012
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III.
Mili A et al.
Journal of Human Genetics, 2012
Glycogen storage disease type III in the Irish population.
Crushell E et al.
Journal of Inherited Metabolic Disease, 2010
Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.
Goldstein JL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010
Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.
Aoyama Y et al.
Journal of Human Genetics, 2009
Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3.
Schoser B et al.
American Journal of Medical Genetics. Part A, 2008
Glycogen storage disease: clinical, biochemical, and molecular heterogeneity.
Shin YS
Seminars in Pediatric Neurology, 2006
Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.
Endo Y et al.
Journal of Human Genetics, 2006
Molecular characterization of Egyptian patients with glycogen storage disease type IIIa.
Endo Y et al.
Journal of Human Genetics, 2005
Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.
Lucchiari S et al.
Human Mutation, 2002
High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia.
Cherif W et al.
Annales De Biologie Clinique, 0