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ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder.Leigh syndrome: neuropathology and pathogenesis.Leigh syndrome: One disorder, more than 75 monogenic causes.Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.TRAK2, a novel regulator of ABCA1 expression, cholesterol efflux and HDL biogenesis.Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variantLeigh syndrome caused by mutations in is associated with a better prognosisSevere Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations
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description
researcher ORCID ID = 0000-0003-4103-6387
@en
wetenschapper
@nl
name
Nicole J Lake
@ast
Nicole J Lake
@en
Nicole J Lake
@es
Nicole J Lake
@nl
type
label
Nicole J Lake
@ast
Nicole J Lake
@en
Nicole J Lake
@es
Nicole J Lake
@nl
prefLabel
Nicole J Lake
@ast
Nicole J Lake
@en
Nicole J Lake
@es
Nicole J Lake
@nl
P21
P31
P496
0000-0003-4103-6387