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Science, ISSN 0036-8075, 9/2006, Volume 313, Issue 5795, pp. 1975 - 1978
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
Cell Reports, ISSN 2211-1247, 10/2017, Volume 21, Issue 1, pp. 10 - 16
Studies with the mutant mouse have shown that axon and synapse pathology in several models of neurodegenerative diseases are mechanistically related to... 
axonopathy | neuromuscular junction | Sarm1 | synaptopathy | neurodegeneration | aging | motor function | NMNAT2-deficient mice | WldS | disease model | Wld
Journal Article
Journal Article
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 03/2018, Volume 28, Issue 3, pp. 278 - 282
DOK7 congenital myasthenic syndrome (DOK7-CMS) generally presents early in life and is treated with salbutamol or ephedrine. This report describes an atypical... 
Pregnancy | Congenital myasthenic syndrome | Fluoxetine | DOK7 | SKELETAL-MUSCLE | NEUROMUSCULAR-JUNCTION SYNAPTOPATHY | MICE | MUTATIONS | NEUROSCIENCES | CLINICAL NEUROLOGY | Genetic disorders | Myasthenia gravis | Pregnant women
Journal Article
Journal Article
Journal Article