Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy

Magrinelli, Francesca; Cali, Elisa; Braga, Vinicius Lopes; Yis, Uluc; Tomoum, Hoda; Shamseldin, Hanan; Raiman, Julian; Kernstock, Christoph; Rezende Filho, Flavio Moura; Povoas Barsottini, Orlando Graziani; Taylor, Robert W.; Ostergaard, Elsebet; Tamim, Abdullah; Schaeferhoff, Karin; Ferraz Sallum, Juliana Maria; Zaki, Maha S.; Kok, Fernando; Bhatia, Kailash P.; Wissinger, Bernd; Sergeant, Kate; Haack, Tobias B.; Horvath, Rita; Hiz, Semra; Alkuraya, Fowzan S.; Houlden, Henry; Pedroso, Jose Luiz; Maroofian, Reza

dc.contributor.author	Kernstock, Christoph
dc.contributor.author	Wissinger, Bernd
dc.contributor.author	Schäferhoff, Karin
dc.contributor.author	Haack, Tobias
dc.date.accessioned	2023-02-14T07:15:35Z
dc.date.available	2023-02-14T07:15:35Z
dc.date.issued	2022
dc.identifier.issn	2330-1619
dc.identifier.uri	http://hdl.handle.net/10900/136501
dc.language.iso	en	de_DE
dc.publisher	Wiley	de_DE
dc.relation.uri	http://dx.doi.org/10.1002/mdc3.13398	de_DE
dc.subject.ddc	610	de_DE
dc.title	Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy	de_DE
dc.type	Article	de_DE
utue.quellen.id	20220728000000_02512
utue.publikation.seiten	218-228	de_DE
utue.personen.roh	Magrinelli, Francesca
utue.personen.roh	Cali, Elisa
utue.personen.roh	Braga, Vinicius Lopes
utue.personen.roh	Yis, Uluc
utue.personen.roh	Tomoum, Hoda
utue.personen.roh	Shamseldin, Hanan
utue.personen.roh	Raiman, Julian
utue.personen.roh	Kernstock, Christoph
utue.personen.roh	Rezende Filho, Flavio Moura
utue.personen.roh	Povoas Barsottini, Orlando Graziani
utue.personen.roh	Taylor, Robert W.
utue.personen.roh	Ostergaard, Elsebet
utue.personen.roh	Tamim, Abdullah
utue.personen.roh	Schaeferhoff, Karin
utue.personen.roh	Ferraz Sallum, Juliana Maria
utue.personen.roh	Zaki, Maha S.
utue.personen.roh	Kok, Fernando
utue.personen.roh	Bhatia, Kailash P.
utue.personen.roh	Wissinger, Bernd
utue.personen.roh	Sergeant, Kate
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Horvath, Rita
utue.personen.roh	Hiz, Semra
utue.personen.roh	Alkuraya, Fowzan S.
utue.personen.roh	Houlden, Henry
utue.personen.roh	Pedroso, Jose Luiz
utue.personen.roh	Maroofian, Reza
dcterms.isPartOf.ZSTitelID	Movement Disorders Clinical Practice	de_DE
dcterms.isPartOf.ZS-Issue	2	de_DE
dcterms.isPartOf.ZS-Volume	9	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE