Query author contributions in Reactome

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Details on Person Mayr, Johannes A

Class:Id	Person:5696075
_displayName	Mayr, Johannes A
_timestamp	2015-05-27 10:31:59
created	[InstanceEdit:5696020] Jassal, Bijay, 2015-05-27
firstname	Johannes A
initial	JA
surname	Mayr
(author)	[LiteratureReference:5696063] Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome [LiteratureReference:6786797] ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy [LiteratureReference:6793615] Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation [LiteratureReference:9856701] Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia [LiteratureReference:9857614] Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy [LiteratureReference:9858041] Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency [LiteratureReference:9916618] Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement [LiteratureReference:9916878] HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders [LiteratureReference:9936272] Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3
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No pathways have been reviewed or authored by Mayr, Johannes A (5696075)