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List of works by Nicole J Lake

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant

article

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

scientific article

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

scientific article published on August 2017

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

scientific article

Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus

scientific article published on 09 July 2020

Leigh syndrome caused by mutations in is associated with a better prognosis

article

Leigh syndrome: One disorder, more than 75 monogenic causes

scientific article published on 27 October 2015

Leigh syndrome: neuropathology and pathogenesis.

scientific article published on June 2015

Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations

scientific article published on 14 April 2018

TRAK2, a novel regulator of ABCA1 expression, cholesterol efflux and HDL biogenesis.

scientific article

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

scientific article published on 26 June 2016

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