A De novo mutation in DNM1L associated with dopaminergic impairment showing infantile parkinsonism and fatal outcome

dc.contributor.author	Fernández Marmiesse, Ana
dc.date.accessioned	2017-06-07T07:15:52Z
dc.date.available	2017-06-07T07:15:52Z
dc.date.issued	2015
dc.identifier.issn	0141-8955
dc.identifier.uri	http://hdl.handle.net/20.500.11940/4491
dc.language.iso	eng
dc.title	A De novo mutation in DNM1L associated with dopaminergic impairment showing infantile parkinsonism and fatal outcome
dc.type	Publicación de congreso
dc.authorsophos	Diez, H.
dc.authorsophos	Giros, M.
dc.authorsophos	Armstrong, J.
dc.authorsophos	Fernandez-Marmiesse, A.
dc.authorsophos	Ormazabal, A.
dc.authorsophos	Montoya, J.
dc.authorsophos	Artuch, R.
dc.authorsophos	Garcia-Cazorla, A.
dc.identifier.doi	10.1007/s10545-015-9877-x
dc.identifier.sophos	18951
dc.issue.number	supl. 1
dc.journal.title	JOURNAL OF INHERITED METABOLIC DISEASE
dc.organization	Servizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Santiago - Complexo Hospitalario Universitario de Santiago::Hematoloxía clínica
dc.page.initial	S315
dc.rights.accessRights	openAccess
dc.typesophos	Comunicaciones a congresos
dc.volume.number	38

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