Impaired synaptic development, Maintenance, and neuromuscular transmission in LRP4-related myasthenia

JAMA Neurology

Volumn 72, Issue 8, 2015, Pages 889-896

  Selcen, Duygu ^a   Ohkawara, Bisei ^b   Shen, Xin Ming ^a   McEvoy, Kathleen ^a   Ohno, Kinji ^b   Engel, Andrew G ^a  

^a MAYO CLINIC   (United States)

^b NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCHOLINESTERASE; CHOLINERGIC RECEPTOR; MUSCLE SPECIFIC TYROSINE KINASE; PROTEIN TYROSINE KINASE; SALBUTAMOL SULFATE; UNCLASSIFIED DRUG; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN; LRP4 PROTEIN, HUMAN;

ADULT; ARTICLE; BINDING SITE; CASE REPORT; CLINICAL FEATURE; CONGENITAL MYASTHENIC SYNDROME; CONTROLLED STUDY; CYTOCHEMISTRY; ELECTRON MICROSCOPY; ENZYME ACTIVATION; EXOME; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; HOMOZYGOSITY; HUMAN; IN VITRO STUDY; INTERCOSTAL MUSCLE; LRP4 GENE; MUTATIONAL ANALYSIS; NERVE CELL MEMBRANE POTENTIAL; NERVE ENDING; NEUROMUSCULAR SYNAPSE; NEUROMUSCULAR TRANSMISSION; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN PHOSPHORYLATION; QUANTITATIVE ANALYSIS; GENETICS; HEK293 CELL LINE; MUSCLE WEAKNESS; MUTATION; MYASTHENIA GRAVIS; PATHOPHYSIOLOGY; PHYSIOLOGY; SYNAPTIC TRANSMISSION; YOUNG ADULT;

ADULT; FEMALE; HEK293 CELLS; HUMANS; LDL-RECEPTOR RELATED PROTEINS; MUSCLE WEAKNESS; MUTATION; MYASTHENIA GRAVIS; MYASTHENIC SYNDROMES, CONGENITAL; NEUROMUSCULAR JUNCTION; SYNAPTIC TRANSMISSION; YOUNG ADULT;

EID: 84938936453     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2015.0853     Document Type: Article

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