Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo <i>PTEN</i> mutation.

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dc.contributor.authorBansagi, Boglarkaen
dc.contributor.authorPhan, Vietxuanen
dc.contributor.authorBaker, Mark Ren
dc.contributor.authorO'Sullivan, Juliaen
dc.contributor.authorJennings, Matthew Jen
dc.contributor.authorWhittaker, Roger Gen
dc.contributor.authorMüller, Juliane Sen
dc.contributor.authorDuff, Jenniferen
dc.contributor.authorGriffin, Helenen
dc.contributor.authorMiller, James ALen
dc.contributor.authorGorman, Grainne Sen
dc.contributor.authorLochmüller, Hannsen
dc.contributor.authorChinnery, Patricken
dc.contributor.authorRoos, Andreasen
dc.contributor.authorSwan, Laura Een
dc.contributor.authorHorvath, Ritaen
dc.date.accessioned2018-11-07T00:30:26Z
dc.date.available2018-11-07T00:30:26Z
dc.date.issued2018-05-02en
dc.identifier.issn0028-3878
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/284680
dc.format.mediumPrint-Electronicen
dc.languageengen
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectHumansen
dc.subjectHamartomaen
dc.subjectHereditary Central Nervous System Demyelinating Diseasesen
dc.subjectGenetic Predisposition to Diseaseen
dc.subjectMutationen
dc.subjectAdulten
dc.subjectMaleen
dc.subjectPTEN Phosphohydrolaseen
dc.subjectHereditary Sensory and Motor Neuropathyen
dc.subjectWhole Exome Sequencingen
dc.titleMultifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo <i>PTEN</i> mutation.en
dc.typeArticle
prism.endingPagee1848
prism.issueIdentifier21en
prism.publicationDate2018en
prism.publicationNameNeurologyen
prism.startingPagee1842
prism.volume90en
dc.identifier.doi10.17863/CAM.32053
dcterms.dateAccepted2018-03-01en
rioxxterms.versionofrecord10.1212/wnl.0000000000005566en
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserveden
rioxxterms.licenseref.startdate2018-05-02en
dc.contributor.orcidBaker, Mark R [0000-0001-6916-1329]
dc.contributor.orcidWhittaker, Roger G [0000-0002-3403-0182]
dc.contributor.orcidGriffin, Helen [0000-0002-5288-3322]
dc.contributor.orcidGorman, Grainne S [0000-0002-7585-3409]
dc.contributor.orcidChinnery, Patrick [0000-0002-7065-6617]
dc.contributor.orcidSwan, Laura E [0000-0002-6312-6263]
dc.contributor.orcidHorvath, Rita [0000-0002-9841-170X]
dc.identifier.eissn1526-632X
rioxxterms.typeJournal Article/Reviewen
pubs.funder-project-idWELLCOME TRUST (101876/Z/13/Z)
pubs.funder-project-idWellcome Trust (109915_A_15_Z)
pubs.funder-project-idMRC (MR/N025431/2)


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Attribution 4.0 International
Except where otherwise noted, this item's licence is described as Attribution 4.0 International