Query author contributions in Reactome

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Details on Person Rodenburg, Richard J

Class:Id	Person:4549331
_displayName	Rodenburg, Richard J
_timestamp	2013-09-12 10:19:40
created	[InstanceEdit:4549381] Jassal, B, 2013-09-12
firstname	Richard J
initial	RJ
surname	Rodenburg
(author)	[LiteratureReference:4549391] Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing [LiteratureReference:5690017] NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern [LiteratureReference:5696063] Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome [LiteratureReference:9815355] Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy [LiteratureReference:9836568] Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome [LiteratureReference:9857614] Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy [LiteratureReference:9865562] A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia [LiteratureReference:9865895] Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression [LiteratureReference:9906886] A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability [LiteratureReference:9916618] Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement
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No pathways have been reviewed or authored by Rodenburg, Richard J (4549331)