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Turkish families with juvenile motor neuron disease broaden the phenotypic spectrum of SPG11

dc.contributor.authorKocoglu, Cemile
dc.contributor.authorOzoguz, Aslihan
dc.contributor.authorKotan, Dilcan
dc.contributor.authorBasak, Ayse Nazli
dc.contributor.authorParman, Yesim G.
dc.contributor.authorEraksoy, Mefkure
dc.contributor.authorIskender, Ceren
dc.contributor.authorKartal, Ece
dc.contributor.authorAkcimen, Fulya
dc.date.accessioned2021-03-06T10:46:32Z
dc.date.available2021-03-06T10:46:32Z
dc.date.issued2015
dc.identifier.citationIskender C., Kartal E., Akcimen F., Kocoglu C., Ozoguz A., Kotan D., Eraksoy M., Parman Y. G. , Basak A. N. , "Turkish families with juvenile motor neuron disease broaden the phenotypic spectrum of SPG11", NEUROLOGY-GENETICS, cilt.1, sa.3, 2015
dc.identifier.othervv_1032021
dc.identifier.otherav_ebf733c2-7761-4eb4-8a83-bde1bbc355bf
dc.identifier.urihttp://hdl.handle.net/20.500.12627/154940
dc.identifier.urihttps://doi.org/10.1212/nxg.0000000000000025
dc.description.abstractObjective: Identification of causative mutations in 3 consanguineous families (with 4 affected members) referred to our center with young-onset motor neuron disease and overlapping phenotypes resembling autosomal recessive juvenile amyotrophic lateral sclerosis (ARJALS) and autosomal recessive hereditary spastic paraplegia (ARHSP).
dc.language.isoeng
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectKLİNİK NEUROLOJİ
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectNöroloji
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectTemel Bilimler
dc.titleTurkish families with juvenile motor neuron disease broaden the phenotypic spectrum of SPG11
dc.typeMakale
dc.relation.journalNEUROLOGY-GENETICS
dc.contributor.departmentBoğaziçi Üniversitesi , ,
dc.identifier.volume1
dc.identifier.issue3
dc.contributor.firstauthorID225064


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