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Journal of Medical Genetics, ISSN 0022-2593, 12/2014, Volume 51, Issue 12, pp. 824 - 833
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2016, Volume 11, Issue 2, p. e0148264
Journal Article
by Schartner, Vanessa and Schartner, Vanessa and Romero, Norma B and Romero, Norma B and Donkervoort, Sandra and Donkervoort, Sandra and Treves, Susan and Treves, Susan and Munot, Pinki and Munot, Pinki and Pierson, Tyler Mark and Pierson, Tyler Mark and Dabaj, Ivana and Dabaj, Ivana and Malfatti, Edoardo and Malfatti, Edoardo and Zaharieva, Irina T and Zaharieva, Irina T and Zorzato, Francesco and Zorzato, Francesco and Abath Neto, Osorio and Abath Neto, Osorio and Brochier, Guy and Brochier, Guy and Lornage, Xavière and Lornage, Xavière and Eymard, Bruno and Eymard, Bruno and Taratuto, Ana Lía and Taratuto, Ana Lía and Böhm, Johann and Böhm, Johann and Gonorazky, Hernan and Gonorazky, Hernan and Ramos-Platt, Leigh and Ramos-Platt, Leigh and Feng, Lucy and Feng, Lucy and Phadke, Rahul and Phadke, Rahul and Bharucha-Goebel, Diana X and Bharucha-Goebel, Diana X and Sumner, Charlotte Jane and Sumner, Charlotte Jane and Bui, Mai Thao and Bui, Mai Thao and Lacene, Emmanuelle and Lacene, Emmanuelle and Beuvin, Maud and Beuvin, Maud and Labasse, Clémence and Labasse, Clémence and Dondaine, Nicolas and Dondaine, Nicolas and Schneider, Raphael and Schneider, Raphael and Thompson, Julie and Thompson, Julie and Boland, Anne and Boland, Anne and Deleuze, Jean-François and Deleuze, Jean-François and Matthews, Emma and Matthews, Emma and Pakleza, Aleksandra Nadaj and Pakleza, Aleksandra Nadaj and Sewry, Caroline A and Sewry, Caroline A and Biancalana, Valérie and Biancalana, Valérie and Quijano-Roy, Susana and Quijano-Roy, Susana and Muntoni, Francesco and Muntoni, Francesco and Fardeau, Michel and Fardeau, Michel and Bönnemann, Carsten G and Bönnemann, Carsten G and Laporte, Jocelyn and Laporte, Jocelyn
Acta Neuropathologica, ISSN 0001-6322, 4/2017, Volume 133, Issue 4, pp. 517 - 533
Journal Article
Medecine/Sciences, ISSN 0767-0974, 11/2017, Volume 33, pp. 34 - 38
Journal Article
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
European Journal of Human Genetics, ISSN 1018-4813, 07/2015, Volume 23, Issue 7, pp. 929 - 934
Journal Article
Journal Article