Ontology highlight
ABSTRACT:
INSTRUMENT(S): Q Exactive
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Cell Culture, Fibroblast
SUBMITTER: Ilka Wittig
LAB HEAD: Robert Taylor
PROVIDER: PXD015749 | Pride | 2020-03-05
REPOSITORIES: Pride
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Complexome_Data.xlsx | Xlsx | |||
Gel.jpg | Other | |||
MaxQuant_Output.zip | Other | |||
P17_081_Taylor_NDUFAF8_Ctrl_Digitonin_01.raw | Raw | |||
P17_081_Taylor_NDUFAF8_Ctrl_Digitonin_02_170815072710.raw | Raw |
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American journal of human genetics 20191219 1
Leigh syndrome is one of the most common neurological phenotypes observed in pediatric mitochondrial disease presentations. It is characterized by symmetrical lesions found on neuroimaging in the basal ganglia, thalamus, and brainstem and by a loss of motor skills and delayed developmental milestones. Genetic diagnosis of Leigh syndrome is complicated on account of the vast genetic heterogeneity with >75 candidate disease-associated genes having been reported to date. Candidate genes are still e ...[more]