Associated Papers
Cytokine-induced reprogramming of human macrophages toward Alzheimer's disease-relevant molecular and cellular phenotypes in vitro.
Podleśny-Drabiniok A et al.
Cell Reports, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.
Lefèvre CR et al.
Journal of Inherited Metabolic Disease, 2024
Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels.
Oliwa A et al.
Neuromuscular Disorders : Nmd, 2023
A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study.
Wilke MVMB et al.
Biomedicines, 2023
GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.
Souza PVS et al.
Journal of Inherited Metabolic Disease, 2021
The potential of dietary treatment in patients with glycogen storage disease type IV.
Derks TGJ et al.
Journal of Inherited Metabolic Disease, 2021
Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities.
Szymańska E et al.
Archives of Medical Science : Ams, 2018
Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue.
Bendroth-Asmussen L et al.
International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists, 2016
Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.
Foley SB et al.
Ebiomedicine, 2015
Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.
Magoulas PL et al.
Human Pathology, 2012
Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.
Li SC et al.
Journal of Inherited Metabolic Disease, 2010
Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene.
Nolte KW et al.
Acta Neuropathologica, 2008
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
Bruno C et al.
Neurology, 2004
Reversible brain creatine deficiency in two sisters with normal blood creatine level.
Bianchi MC et al.
Annals of Neurology, 2000
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy.
Bruno C et al.
Neuromuscular Disorders : Nmd, 1999
Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.
Bao Y et al.
The Journal of Clinical Investigation, 1996