22205389Maselli RA, Fernandez JM, Arredondo J, Navarro C, Ngo M, Beeson D, Cagney O, Williams DC, Wollmann RL, Yarov-Yarovoy V, Ferns MJHuman geneticsAgrin; Codon, Nonsense; Mutation, Missense; Myasthenic Syndromes, CongenitalAcetylcholinesterase; Adult; Base Sequence; Cell Line; Dystroglycans; Female; HEK293 Cells; Humans; Male; Models, Molecular; Muscle Fibers, Skeletal; Muscle, Skeletal; Neuromuscular Junction; Pedigree; Receptors, Cholinergic; Sequence Analysis, DNALG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin. Hum Genet. 2012 Jul; 131(7):1123-35.Hum Genet2011-12-29T00:00:002011LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin.prns:fullNamefull nameprns:hasAuthorListauthor listprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:hasSubjectAreaMajorTopicListhas major subject area listprns:hasSubjectAreaMinorTopicListhas minor subject area listprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns:latitudelatitudeprns:longitudelongitudeprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns:minWeightminimum weightprns:numberOfAuthorsnumber of authorsprns:numberOfConnectionsnumber of connectionsprns:numberOfPublicationsnumber of publicationsprns:personIdPerson IDprns:personInPrimaryPositionperson in primary positionprns:positionInDepartmentposition in departmentprns:predicateNodepredicate nodeprns:publicationDatepublication dateprns:sortOrdersort orderprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed Identifiervivo:authorRankauthor rank in publicationAuthorshipDepartmentvivo:hasSubjectAreahas subject areavivo:hrJobTitleHR job titleInformation Resourcevivo:informationResourceInAuthorshipauthorsvivo:linkedAuthorlinked authorvivo:linkedInformationResourcelinked information resourcePositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titlerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPersonD000110Chemicals & Drugs25470.989407AcetylcholinesteraseD000328Living Beings1578255770.254432AdultD001483Chemicals & DrugsGenes & Molecular Sequences48123290.731399Base SequenceD008958Concepts & Ideas24512840.706947Models, MolecularD009469Anatomy23800.949306Neuromuscular JunctionD010375Concepts & Ideas1929660.837406PedigreeD005260Physiology1992444050.191167FemaleAuthorship 471789D011950Chemicals & Drugs19760.969314Receptors, CholinergicD006801Living Beings2262862810.130052HumansD008297Physiology1931408600.201617MaleD017422Procedures3068530.760396Sequence Analysis, DNA0.1069760.1069761authors10.2520has subject areaD018482Anatomy1804480.774784Muscle, SkeletalD020125Physiology1342760.870252Mutation, MissenseD049030Chemicals & Drugs9150.990556DystroglycansD057809Anatomy2416150.837748HEK293 CellsD018389Chemicals & DrugsPhysiology33410.973553Codon, NonsenseD020294Disorders4350.964435Myasthenic Syndromes, CongenitalD018485Anatomy29450.971648Muscle Fibers, SkeletalD002460Anatomy54024660.697085Cell LineD018171Chemicals & Drugs360.997736AgrinPathologyUniversity of ChicagoRobertWollmannRobert Wollmann41.78927490000000-87.601250000000001645Wollmann, RobertProfessor-Clinical Depttrue1Professor-Clinical DeptProfessor-Clinical Dept