Publication:
Sorbitol-dehydrogenase (SORD) gene mutation as a curable cause of charcot-marie-tooth 2 (CMT-2) and distal hereditary motor neuronopathy (D-HMN)

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dc.contributor.departmentKUH (Koç University Hospital)
dc.contributor.departmentSchool of Medicine
dc.contributor.kuauthorFaculty Member, Akçay, Ayfer Arduç
dc.contributor.kuauthorDoctor, Avcı, Şahin
dc.contributor.kuauthorFaculty Member, Kayserili, Hülya
dc.contributor.kuauthorFaculty Member, Oflazer, Piraye
dc.contributor.kuauthorDoctor, Yunisova, Gulshan
dc.contributor.schoolcollegeinstituteKUH (KOÇ UNIVERSITY HOSPITAL)
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-11-09T23:27:17Z
dc.date.issued2022
dc.description.indexedbyWOS
dc.description.openaccessNO
dc.description.publisherscopeInternational
dc.description.sponsoredbyTubitakEuN/A
dc.description.volume27
dc.identifier.eissn1529-8027
dc.identifier.issn1085-9489
dc.identifier.urihttps://hdl.handle.net/20.500.14288/11676
dc.identifier.wos822950200161
dc.keywordsCMT
dc.keywordsd-HMN
dc.keywordsSORD gene
dc.keywordsSorbitol
dc.keywordsHereditery neuropathy
dc.keywordsNeuronopathy
dc.keywordsWES
dc.keywordsNGS
dc.keywordsTreatment
dc.language.isoeng
dc.publisherWiley
dc.relation.ispartofJournal of the Peripheral Nervous System
dc.subjectClinical neuropsychology
dc.subjectNeurosciences
dc.titleSorbitol-dehydrogenase (SORD) gene mutation as a curable cause of charcot-marie-tooth 2 (CMT-2) and distal hereditary motor neuronopathy (D-HMN)
dc.typeMeeting Abstract
dspace.entity.typePublication
local.contributor.kuauthorYunisova, Gulshan
local.contributor.kuauthorAvcı, Şahin
local.contributor.kuauthorAkçay, Ayfer Arduç
local.contributor.kuauthorKayserili, Hülya
local.contributor.kuauthorOflazer, Piraye
local.publication.orgunit1SCHOOL OF MEDICINE
local.publication.orgunit1KUH (KOÇ UNIVERSITY HOSPITAL)
local.publication.orgunit2KUH (Koç University Hospital)
local.publication.orgunit2School of Medicine
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