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Journal Article
Journal Article
Molecular Cell, ISSN 1097-2765, 01/2016, Volume 61, Issue 1, pp. 125 - 137
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 01/2018, Volume 46, Issue 2, pp. 956 - 971
Abstract Influenza polymerase uses short capped primers snatched from nascent Pol II transcripts to initiate transcription of viral mRNAs. Here we describe... 
REFINEMENT | PB2 | VIRUS MESSENGER-RNA | B POLYMERASE | REPLICATION | RECOGNITION | INITIATION | CRYSTAL-STRUCTURE | BIOCHEMISTRY & MOLECULAR BIOLOGY | TRANSCRIPTION | DISCOVERY | Structural Biology
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2009, Volume 85, Issue 2, pp. 155 - 167
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2013, Volume 8, Issue 1, p. e53826
Congenital myasthenic syndromes (CMSs) are a heterogeneous group of genetic disorders affecting neuromuscular transmission. The agrin/muscle-specific kinase... 
DOMAIN | PROTEIN | CRYSTAL-STRUCTURE | MULTIDISCIPLINARY SCIENCES | SYNAPSE | MOUSE | TYROSINE KINASE MUSK | MUSCLE | DOK-7 | NICOTINIC ACETYLCHOLINE-RECEPTORS | NEUROMUSCULAR-JUNCTION | Synaptic Transmission - genetics | Neuromuscular Junction - metabolism | Humans | Male | Muscle, Skeletal - innervation | Mutation, Missense | Agrin - metabolism | Muscle Weakness - genetics | Receptors, Growth Factor - genetics | HEK293 Cells | Muscle Proteins - metabolism | Neuromuscular Junction - genetics | Child | Myasthenic Syndromes, Congenital - physiopathology | Myasthenic Syndromes, Congenital - genetics | Receptors, Cholinergic - metabolism | Signal Transduction | Neuromuscular Junction - physiopathology | Receptor Protein-Tyrosine Kinases - metabolism | Muscle Proteins - genetics | Myasthenic Syndromes, Congenital - metabolism | Animals | Receptor Protein-Tyrosine Kinases - genetics | Muscle, Skeletal - physiopathology | Muscle Weakness - metabolism | Mice | Muscle Weakness - physiopathology | Receptors, Cholinergic - genetics | Receptors, Growth Factor - metabolism | Cytochemistry | Genetic aspects | Genetic disorders | Phosphorylation | Congenital defects | Parents | Insulin-like growth factors | Kinases | Proteins | Signal transduction | Axon sprouting | Missense mutation | Agrin | Coding | Genetic analysis | MUSK protein | Genetics | Paralysis | Muscles | Electroporation | Electron microscopy | Neuromuscular transmission | Biopsy | Neuromuscular junctions | Reinnervation | Myasthenia | Consanguinity | Mutation | Aberration | Denervation | Life Sciences | Acetylcholine
Journal Article
Journal of Medical Genetics, ISSN 1468-6244, 01/2010, Volume 47, Issue 12, pp. 795 - 796
Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders that give rise to a defect in neuromuscular transmission. We described... 
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/2010, Volume 47, Issue 12, p. 795
Introduction: Post-synaptic congenital myasthenic syndromes (CMSs) (OMIM_ #608931) is a group of genetic disorders affecting neuromuscular transmission and due... 
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 12/2004, Volume 13, Issue 24, pp. 3229 - 3240
We report the first case of a human neuromuscular transmission dysfunction due to mutations in the gene encoding the muscle-specific receptor tyrosine kinase... 
Journal Article
PLoS ONE, ISSN 1932-6203, 2013, Volume 8, Issue 1, p. e53826
Congenital myasthenic syndromes (CMSs) are a heterogeneous group of genetic disorders affecting neuromuscular transmission. The agrin/muscle-specific kinase... 
Life Sciences | Neurons and Cognition | Neurobiology | Genetics | Human genetics
Journal Article
Archives of Otolaryngology–Head & Neck Surgery, ISSN 0886-4470, 07/2008, Volume 134, Issue 7, pp. 715 - 719
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 08/2009, Volume 85, Issue 2, p. 155
We report the case of a congenital myasthenic syndrome due to a mutation in AGRN, the gene encoding agrin, an extracellular matrix molecule released by the... 
Cell culture | Genetic disorders | Rodents | Glycoproteins | Mutation | Muscular system
Journal Article