D002524DisordersC10.228.140.252.190C10.597.350.090.500C23.888.592.350.090.20011200.974738Cerebellar Ataxiaprns:emailEncryptedemail addressFaculty Rankprns:fullNamefull nameprns:hasAuthorListauthor listprns:hasFacultyRankhas faculty rankprns: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 nameOrganizationPerson1.285910.015900711research area of0.9554760.017760417subject area forDouglasNordliDouglas Nordli41.7886000000000087.598699999999993714Nordli, DouglasProfessorTimothy C.HainTimothy C. Hain0.000000000000000.000000000000002980Hain, Timothy C.Clinical Associate36289003Ronco R, Perini C, Currò R, Dominik N, Facchini S, Gennari A, Simone R, Stuart S, Nagy S, Vegezzi E, Quartesan I, El-Saddig A, Lavin T, Tucci A, Szymura A, Novis De Farias LE, Gary A, Delfeld M, Kandikatla P, Niu N, Tawde S, Shaw J, Polke J, Reilly MM, Wood NW, Crespan E, Gomez C, Chen JYH, Schmahmann JD, Gosal D, Houlden H, Das S, Cortese ANeurologyTruncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome. Neurology. 2023 01 31; 100(5):e543-e554.Neurology2022-10-26T00:00:002022Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.36240105Nordli D, Martz B, Abram HNeurologyExtracranial Etiology of Acute Onset Ataxia and Weakness: Small but Deadly. Neurology. 2022 Nov 14; 99(20):898-899.Neurology2022-11-14T00:00:002022Extracranial Etiology of Acute Onset Ataxia and Weakness: Small but Deadly.37043503Calame DG, Moreno Vadillo C, Berger S, Lotze T, Shinawi M, Poupak J, Heller C, Cohen J, Person R, Telegrafi A, Phitsanuwong C, Fiala K, Thiffault I, Del Viso F, Zhou D, Fleming EA, Pastinen T, Fatemi A, Thomas S, Pascual SI, Torres RJ, Prior C, Gómez-González C, Biskup S, Lupski JR, Maric D, Holmgren M, Regier D, Yano STBrain : a journal of neurologyCation leak through the ATP1A3 pump causes spasticity and intellectual disability. Brain. 2023 08 01; 146(8):3162-3171.Brain2023-08-01T00:00:002023Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.ShoYanoSho Yano41.7886000000000087.598699999999994372Yano, ShoAssistant ProfessorHuman GeneticsNeurologyPediatricsUniversity of ChicagoChristopher M.Gomez1GVmBqQPOeLchGhrbEnp6iv47M/z/LZWeXp7ceLFF3NDChristopher M. Gomez41.78927490000000-87.601250000000001095Gomez, Christopher M.ProfessorSomaDasxGZoGIF1GuTQkntjbwjr93A=Soma Das41.78927490000000-87.601250000000001471Das, SomaProfessor31418719Yacovino DA, Zanotti E, Hain TCThe journal of international advanced otologyIs Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome (CANVAS) a Vestibular Ganglionopathy? J Int Adv Otol. 2019 Aug; 15(2):304-308.J Int Adv Otol2019-08-01T00:00:002019Is Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome (CANVAS) a Vestibular Ganglionopathy?true1ProfessorProfessortrue1ProfessorProfessortrue1Clinical AssociateClinical Associatetrue1ProfessorProfessortrue1Assistant ProfessorAssistant Professor1010Pediatrics-Neurology27848087Luo L, Wang J, Lo RY, Figueroa KP, Pulst SM, Kuo PH, Perlman S, Wilmot G, Gomez CM, Schmahmann J, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind M, Xia G, Subramony SH, Ashizawa T, Kuo SHCerebellum (London, England)The Initial Symptom and Motor Progression in Spinocerebellar Ataxias. Cerebellum. 2017 06; 16(3):615-622.Cerebellum2017-06-01T00:00:002017The Initial Symptom and Motor Progression in Spinocerebellar Ataxias.