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Journal Article
Journal Article
Brain, ISSN 0006-8950, 2014, Volume 137, Issue 9, pp. 2429 - 2443
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, pp. 878 - 885
Journal Article
Brain, ISSN 0006-8950, 6/2007, Volume 130, Issue 6, pp. 1497 - 1506
Journal Article
Journal Article
Journal of Neurology, ISSN 0340-5354, 8/2017, Volume 264, Issue 8, pp. 1791 - 1803
Mutations in GFPT1 (glutamine-fructose-6-phosphate transaminase 1), a gene encoding an enzyme involved in glycosylation of ubiquitous proteins, cause a... 
Neurology | Neurosciences | Medicine & Public Health | GFPT1 | Tubular aggregates | Neuromuscular junction | Neuroradiology | Limb-girdle myasthenia | Myopathy | DPAGT1 | TRANSPORTER | CLINICAL-FEATURES | IDENTIFICATION | CLINICAL NEUROLOGY | SKELETAL-MUSCLE | GENE | STIM1 | GFPT1 MUTATIONS | EXPRESSION | Prospective Studies | Follow-Up Studies | Humans | Middle Aged | Muscle, Skeletal - innervation | Myopathies, Structural, Congenital - genetics | Young Adult | Myopathies, Structural, Congenital - drug therapy | Myasthenic Syndromes, Congenital - pathology | Adult | Female | Retrospective Studies | Neuromuscular Junction - enzymology | Neuromuscular Junction - pathology | Myasthenic Syndromes, Congenital - enzymology | Myasthenic Syndromes, Congenital - genetics | Muscle, Skeletal - enzymology | Myopathies, Structural, Congenital - enzymology | Glycosylation | Myasthenic Syndromes, Congenital - drug therapy | Adolescent | Myopathies, Structural, Congenital - pathology | Aged | Glutamine-Fructose-6-Phosphate Transaminase (Isomerizing) - genetics | Muscle, Skeletal - pathology | Complications and side effects | Myasthenia gravis | Gene mutations | Physiological aspects | Muscle diseases | Genetic aspects | Research | Risk factors | Fructose-6-phosphate | Congenital defects | Transaminase | Tubules | Fructose | Skeletal muscle | Membrane proteins | Proteins | Etiology | Biopsy | Neuromuscular junctions | Reinnervation | Myasthenia | Mutation | Denervation | Glutamine | Life Sciences | Neurons and Cognition | Neurobiology
Journal Article
Brain, ISSN 0006-8950, 3/2008, Volume 131, Issue 3, pp. 747 - 759
Journal Article
Journal Article