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.kuauthorAkçay, Ayfer Arduç
dc.contributor.kuauthorAvcı, Şahin
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.kuauthorOflazer, Piraye
dc.contributor.kuauthorYunisova, 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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