Query author contributions in Reactome

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Details on Person Meitinger, T

Class:Id	Person:196863
_displayName	Meitinger, T
_timestamp	2007-07-09 22:03:47
created	[InstanceEdit:196747] Jassal, B, 2007-04-24 08:38:46
firstname	Thomas
initial	T
modified	[InstanceEdit:199189] D'Eustachio, P, 2007-07-09 22:03:12
surname	Meitinger
(author)	[LiteratureReference:196762] An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria [LiteratureReference:2466843] Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays [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:6787458] Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis [LiteratureReference:9035243] Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration [LiteratureReference:9828895] Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia [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:9916618] Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement
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No pathways have been reviewed or authored by Meitinger, T (196863)