Associated Papers
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Ramensky VE et al.
Frontiers in Genetics, 2021
34691145 (PubMed )
Supplement: Data_Sheet_2.xlsx › Supplementary_Table_3
Genetic analysis and long-term treatment monitoring of 11 children with glycogen storage disease type IIIa.
Du C et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
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
Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations.
Lu C et al.
Journal of Human Genetics, 2016
Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey.
Okubo M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
Mutational analysis of the AGL gene: five novel mutations in GSD III patients.
Lucchiari S et al.
Human Mutation, 2003
Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.
Lucchiari S et al.
American Journal of Medical Genetics, 2002
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