Reactome | Mayr, JA

Schema > Person > Entries

created	[InstanceEdit:5696020] Jassal, Bijay, 2015-05-27
dbId	5696075
displayName	Mayr, JA
firstname	Johannes A
initial	JA
publications	[LiteratureReference:5696063] Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome [LiteratureReference:6793615] Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation [LiteratureReference:9916878] HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders [LiteratureReference:6786797] ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy [LiteratureReference:9858041] Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency [LiteratureReference:9857614] Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy [LiteratureReference:9916618] Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement [LiteratureReference:9856701] Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia
schemaClass	Person
surname	Mayr

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