Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy

Neumann, Marie Anne-Catherine; Grossmann, Dajana; Schimpf-Linzenbold, Simone; Dayan, Dana; Stingl, Katarina; Ben-Menachem, Reut; Pines, Ophry; Massart, Francois; Delcambre, Sylvie; Ghelfi, Jenny; Bohler, Jill; Strom, Tim; Kessel, Amit; Azem, Abdussalam; Schoels, Ludger; Gruenewald, Anne; Wissinger, Bernd; Krueger, Rejko

dc.contributor.author	Schimpf-Linzenbold, Simone
dc.contributor.author	Wissinger, Bernd
dc.contributor.author	Štingl, Katarína
dc.contributor.author	Schöls, Ludger
dc.date.accessioned	2021-05-18T06:12:52Z
dc.date.available	2021-05-18T06:12:52Z
dc.date.issued	2020
dc.identifier.issn	2045-2322
dc.identifier.uri	http://hdl.handle.net/10900/115267
dc.language.iso	en	de_DE
dc.publisher	Nature Research	de_DE
dc.relation.uri	http://dx.doi.org/10.1038/s41598-020-73557-4	de_DE
dc.subject.ddc	500	de_DE
dc.title	Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy	de_DE
dc.type	Article	de_DE
utue.quellen.id	20210304112512_01081
utue.personen.roh	Neumann, Marie Anne-Catherine
utue.personen.roh	Grossmann, Dajana
utue.personen.roh	Schimpf-Linzenbold, Simone
utue.personen.roh	Dayan, Dana
utue.personen.roh	Stingl, Katarina
utue.personen.roh	Ben-Menachem, Reut
utue.personen.roh	Pines, Ophry
utue.personen.roh	Massart, Francois
utue.personen.roh	Delcambre, Sylvie
utue.personen.roh	Ghelfi, Jenny
utue.personen.roh	Bohler, Jill
utue.personen.roh	Strom, Tim
utue.personen.roh	Kessel, Amit
utue.personen.roh	Azem, Abdussalam
utue.personen.roh	Schoels, Ludger
utue.personen.roh	Gruenewald, Anne
utue.personen.roh	Wissinger, Bernd
utue.personen.roh	Krueger, Rejko
dcterms.isPartOf.ZSTitelID	Scientific Reports	de_DE
dcterms.isPartOf.ZS-Issue	Article 16736	de_DE
dcterms.isPartOf.ZS-Volume	10	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE