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.departmentN/A
dc.contributor.departmentN/A
dc.contributor.departmentN/A
dc.contributor.departmentN/A
dc.contributor.departmentN/A
dc.contributor.kuauthorYunisova, Gulshan
dc.contributor.kuauthorAvcı, Şahin
dc.contributor.kuauthorAkçay, Ayfer Arduç
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.kuauthorOflazer, Piraye
dc.contributor.kuprofileDoctor
dc.contributor.kuprofileFaculty Member
dc.contributor.kuprofileFaculty Member
dc.contributor.kuprofileFaculty Member
dc.contributor.kuprofileFaculty Member
dc.contributor.schoolcollegeinstituteN/A
dc.contributor.schoolcollegeinstituteSchool of Medicine
dc.contributor.schoolcollegeinstituteSchool of Medicine
dc.contributor.schoolcollegeinstituteSchool of Medicine
dc.contributor.schoolcollegeinstituteSchool of Medicine
dc.contributor.unitKoç University Hospital
dc.contributor.yokidN/A
dc.contributor.yokidN/A
dc.contributor.yokid162811
dc.contributor.yokid7945
dc.contributor.yokidN/A
dc.date.accessioned2024-11-09T23:27:17Z
dc.date.issued2022
dc.description.abstractN/A
dc.description.indexedbyWoS
dc.description.openaccessNO
dc.description.publisherscopeInternational
dc.description.volume27
dc.identifier.doiN/A
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.languageEnglish
dc.publisherWiley
dc.sourceJournal 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.authoridN/A
local.contributor.authorid0000-0001-9545-6657
local.contributor.authorid0000-0002-2976-7112
local.contributor.authorid0000-0003-0376-499X
local.contributor.authorid0000-0001-8202-5313
local.contributor.kuauthorYunisova, Gulshan
local.contributor.kuauthorAvcı, Şahin
local.contributor.kuauthorAkçay, Ayfer Arduç
local.contributor.kuauthorKayserili, Hülya
local.contributor.kuauthorOflazer, Piraye

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