D020914DisordersC05.651.575C10.668.491.550790.991857Myopathies, Structural, Congenitalprns:emailEncryptedemail addressprns:fullNamefull nameprns:hasAuthorListauthor listprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns:latitudelatitudeprns:longitudelongitudeprns:mainImagephotoprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns:meshTreeNumberMeSH tree numberprns: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 IdentifierDepartmentvivo:hrJobTitleHR job titleInformation ResourcePositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titlevivo:researchAreaOfresearch area ofvivo:subjectAreaForsubject area forrdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPerson22396310Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, Barger MA, Mahoney LJ, Kang PB, Zanoteli E, Vissing J, Witting N, Echaniz-Laguna A, Wallgren-Pettersson C, Dowling J, Merlini L, Oldfors A, Bomme Ousager L, Melki J, Krause A, Jern C, Oliveira AS, Petit F, Jacquette A, Chaussenot A, Mowat D, Leheup B, Cristofano M, Poza Aldea JJ, Michel F, Furby A, Llona JE, Van Coster R, Bertini E, Urtizberea JA, Drouin-Garraud V, Béroud C, Prudhon B, Bedford M, Mathews K, Erby LA, Smith SA, Roggenbuck J, Crowe CA, Brennan Spitale A, Johal SC, Amato AA, Demmer LA, Jonas J, Darras BT, Bird TD, Laurino M, Welt SI, Trotter C, Guicheney P, Das S, Mandel JL, Beggs AH, Laporte JHuman mutationMutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat. 2012 Jun; 33(6):949-59.Hum Mutat2012-04-04T00:00:002012Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.22617344Biancalana V, Beggs AH, Das S, Jungbluth H, Kress W, Nishino I, North K, Romero NB, Laporte JEuropean journal of human genetics : EJHGClinical utility gene card for: Centronuclear and myotubular myopathies. Eur J Hum Genet. 2012 Oct; 20(10).Eur J Hum Genet2012-05-23T00:00:002012Clinical utility gene card for: Centronuclear and myotubular myopathies.0.4927860.0804437research area of0.4968310.12489310subject area for23273872Amburgey K, Lawlor MW, Del Gaudio D, Cheng YW, Fitzpatrick C, Minor A, Li X, Aughton D, Das S, Beggs AH, Dowling JJNeuromuscular disorders : NMDLarge duplication in MTM1 associated with myotubular myopathy. Neuromuscul Disord. 2013 Mar; 23(3):214-8.Neuromuscul Disord2012-12-28T00:00:002012Large duplication in MTM1 associated with myotubular myopathy.Human GeneticsMedicinePathologyUniversity of ChicagoSamuelRefetoffSamuel Refetoff41.78927490000000-87.60125000000000116Refetoff, SamuelEmeritus/EmeritaSomaDasxGZoGIF1GuTQkntjbwjr93A=Soma Das41.78927490000000-87.601250000000001471Das, SomaProfessorRobertWollmannRobert Wollmann41.78927490000000-87.601250000000001645Wollmann, RobertProfessor-Clinical DeptCarrie A.FitzpatrickCarrie A. Fitzpatrick41.78927490000000-87.601250000000001812Fitzpatrick, Carrie A.Associate ProfessorAlexisDemonbreunAlexis Demonbreun41.78927490000000-87.60125000000000885Demonbreun, AlexisPostdoctoral Scholartrue1ProfessorProfessortrue1Postdoctoral ScholarPostdoctoral Scholartrue1Emeritus/EmeritaEmeritus/Emeritatrue1Professor-Clinical DeptProfessor-Clinical Depttrue1Associate ProfessorAssociate Professor22924779Hanna N, Bouhenni R, Gupta B, Abu-Amero KK, Wollmann R, Edward DPOphthalmic geneticsHistopathologic changes in the extraocular muscle in centronuclear myopathy with a Dynamin 2 mutation. Ophthalmic Genet. 2013 Mar-Jun; 34(1-2):83-6.Ophthalmic Genet2012-08-27T00:00:002012Histopathologic changes in the extraocular muscle in centronuclear myopathy with a Dynamin 2 mutation.24569368Demonbreun AR, McNally EMThe Journal of clinical investigationDynamin 2 the rescue for centronuclear myopathy. J Clin Invest. 2014 Mar; 124(3):976-8.J Clin Invest2014-02-24T00:00:002014Dynamin 2 the rescue for centronuclear myopathy.Medicine-Endocrinology