Results 141 to 147 of about 1,590 (147)

A novel GBE1 mutation and features of polyglucosan bodies autophagy in Adult Polyglucosan Body Disease

Neuromuscular Disorders, 2015
Simone Sampaolo, Filomena Napolitano, Fernando Gianfrancesco   +2 more
exaly  

Whole exome sequencing in foetal akinesia expands the genotype–phenotype spectrum of GBE1 glycogen storage disease mutations

Neuromuscular Disorders, 2013
Nigel Laing, Peter Blumbergs, Gianina Ravenscroft   +2 more
exaly  

Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 Mutation

Pediatric and Developmental Pathology, 2016
Aurore Coulomb, Roseline Froissart, Sabah Boudjemaa   +2 more
exaly  

Polyglucosan bodies in intramuscular nerve branches are a poor predictor of GBE1 mutation and adult polyglucosan body disease

Muscle and Nerve, 2016
Peter Pytel, Sabah Kadri, Larissa V Furtado   +2 more
exaly  

Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease

Neurology: Genetics, 2017
Shoji Tsuji, Jun Mitsui, Yukio Fujita
exaly  

Identification of Novel and Recurrent Variants in BTD, GBE1, AGL and ASL Genes in Families with Metabolic Disorders in Saudi Arabia

Journal of Clinical Medicine
Sulman Basit, M Latif, Abdulfatah Alayoubi   +2 more
exaly  

GBE1 alleviates MPTP-induced PD symptoms in mice by enhancing glycolysis and oxidative phosphorylation

Brain Research
exaly