about
Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation.CNF1 improves astrocytic ability to support neuronal growth and differentiation in vitro.Enhancement of mitochondrial ATP production by the Escherichia coli cytotoxic necrotizing factor 1.Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutationsNovel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7.A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteinsRiboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathyBiallelic mutations in early-onset, variably progressive neurodegenerationMutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing
P50
Q30840592-2E843AA2-8627-4730-A0EA-E442D3CF7C82Q34241648-DAF289D7-A4F3-493B-8ED4-B91DD9A2F718Q38985318-D27A1B7F-4370-4907-B2D9-77EDC375BB92Q41921670-678BFA41-DC62-4AA8-AE84-03C5A8125E10Q42236974-5EB51913-85E4-4E9C-A83B-31D7F1E53951Q48456462-A00251D8-65F1-40BA-B14D-E73416D5D2E0Q51614757-BB66693C-A76F-4563-9306-AF421DCD070BQ52873752-EAC0FB5F-6E62-4E36-BB81-74055AE77FC0Q57463056-36590E79-40A9-441D-8BB5-F884FC46C4DFQ57588158-F014C6EE-387F-4650-8F6B-4F14CA3BC5F8Q64040291-B9E1D24A-ACBD-475C-A7C6-5C95A87E2C38Q64044662-DBC545DC-CDCC-4431-B63F-01401DDECF32Q91688891-40F9B68C-4FA4-45FB-83D4-1A7492D59084
P50
description
onderzoeker
@nl
researcher ORCID ID = 0000-0001-8970-0617
@en
name
Michela Di Nottia
@ast
Michela Di Nottia
@en
Michela Di Nottia
@es
Michela Di Nottia
@nl
type
label
Michela Di Nottia
@ast
Michela Di Nottia
@en
Michela Di Nottia
@es
Michela Di Nottia
@nl
prefLabel
Michela Di Nottia
@ast
Michela Di Nottia
@en
Michela Di Nottia
@es
Michela Di Nottia
@nl
P106
P1153
55189840800
P31
P496
0000-0001-8970-0617