21175599Maselli RA, Arredondo J, Cagney O, Mozaffar T, Skinner S, Yousif S, Davis RR, Gregg JP, Sivak M, Konia TH, Thomas K, Wollmann RLClinical geneticsEpidermolysis Bullosa Simplex; Myasthenic Syndromes, Congenital; Plectin; Receptors, NicotinicConsanguinity; Excitatory Postsynaptic Potentials; Female; HEK293 Cells; Humans; Male; Middle Aged; Miniature Postsynaptic Potentials; Mutagenesis, Insertional; Neuromuscular Junction; PedigreeCongenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE. Clin Genet. 2011 Nov; 80(5):444-51.Clin Genet2010-12-22T00:00:002010Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE.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 nameOrganizationPersonD003241Concepts & IdeasPhysiology29730.981308ConsanguinityD008875Concepts & IdeasLiving Beings1473249570.258811Middle AgedD009469Anatomy23800.949306Neuromuscular JunctionD010375Concepts & Ideas1929660.837406PedigreeD005260Physiology1992444050.191167FemaleAuthorship 4346512D006801Living Beings2262862810.130052HumansD008297Physiology1931408600.201617MaleD019706Physiology36870.957774Excitatory Postsynaptic Potentials0.3987380.3987381authors10.2515has subject areaD051190Chemicals & Drugs110.998012PlectinD055369Physiology560.997815Miniature Postsynaptic PotentialsD011978Chemicals & Drugs401290.905671Receptors, NicotinicD057809Anatomy2416150.837748HEK293 CellsD016110Disorders220.997743Epidermolysis Bullosa SimplexD020294Disorders4350.964435Myasthenic Syndromes, CongenitalD016254DisordersPhysiologyProcedures721110.939744Mutagenesis, InsertionalPathologyUniversity of ChicagoRobertWollmannRobert Wollmann41.78927490000000-87.601250000000001645Wollmann, RobertProfessor-Clinical Depttrue1Professor-Clinical DeptProfessor-Clinical Dept