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Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

dc.contributor.authorZIMON, Magdalena
dc.contributor.authorZuechner, Stephan
dc.contributor.authorTIMMERMAN, Vincent
dc.contributor.authorVAN DIJCK, Patrick
dc.contributor.authorRASIC, Vedrana Milic
dc.contributor.authorJANECKE, Andreas R.
dc.contributor.authorDE JONGHE, Peter
dc.contributor.authorJORDANOVA, Albena
dc.contributor.authorBaets, Jonathan
dc.contributor.authorAlmeida-Souza, Leonardo
dc.contributor.authorDE VRIENDT, Els
dc.contributor.authorBattaloglu, Esra
dc.contributor.authorGUERGUELTCHEVA, Velina
dc.contributor.authorTOURNEV, Ivailo
dc.contributor.authorAuer-Grumbach, Michaela
dc.contributor.authorDE RIJK, Peter
dc.contributor.authorPETERSEN, Britt-Sabina
dc.contributor.authorMUELLER, Thomas
dc.contributor.authorFRANSEN, Erik
dc.contributor.authorVAN DAMME, Philip
dc.contributor.authorLOESCHER, Wolfgang N.
dc.contributor.authorBARISIC, Nina
dc.contributor.authorMITROVIC, Zoran
dc.contributor.authorPREVITALI, Stefano C.
dc.contributor.authorTopaloglu, Haluk
dc.contributor.authorBERNERT, Guenther
dc.contributor.authorBeleza-Meireles, Ana
dc.contributor.authorTODOROVIC, Slobodanka
dc.contributor.authorSAVIC-PAVICEVIC, Dusanka
dc.contributor.authorISHPEKOVA, Boryana
dc.contributor.authorLECHNER, Silvia
dc.contributor.authorMatur, Zeliha
dc.contributor.authorParman, Yesim
dc.contributor.authorNIKODINOVIC, Jelena
dc.contributor.authorPEETERS, Kristien
dc.contributor.authorOOMS, Tinne
dc.contributor.authorHAHN, Angelika F.
dc.date.accessioned2021-03-05T09:59:09Z
dc.date.available2021-03-05T09:59:09Z
dc.date.issued2012
dc.identifier.citationZIMON M., Baets J., Almeida-Souza L., DE VRIENDT E., NIKODINOVIC J., Parman Y., Battaloglu E., Matur Z., GUERGUELTCHEVA V., TOURNEV I., et al., "Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia", NATURE GENETICS, cilt.44, ss.1080-1083, 2012
dc.identifier.issn1061-4036
dc.identifier.othervv_1032021
dc.identifier.otherav_a0b5f0d6-3818-4b8b-9a25-f58bf99a131e
dc.identifier.urihttp://hdl.handle.net/20.500.12627/107757
dc.identifier.urihttps://doi.org/10.1038/ng.2406
dc.description.abstractInherited peripheral neuropathies are frequent neuromuscular disorders known for their clinical and genetic heterogeneity. In 33 families, we identified 8 mutations in HINT1 (encoding histidine triad nucleotide-binding protein 1) by combining linkage analyses with next-generation sequencing and subsequent cohort screening of affected individuals. Our study provides evidence that loss of functional HINT1 protein results in a distinct phenotype of autosomal recessive axonal neuropathy with neuromyotonia.
dc.language.isoeng
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTıp
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.titleLoss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
dc.typeMakale
dc.relation.journalNATURE GENETICS
dc.contributor.department, ,
dc.identifier.volume44
dc.identifier.issue10
dc.identifier.startpage1080
dc.identifier.endpage1083
dc.contributor.firstauthorID24289


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