List of works - Charu Deshpande - Paulina

List of works by Charu Deshpande

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

scientific article published on 16 February 2018

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.

scientific article published on 27 October 2015

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

scientific article published on 26 October 2017

Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.

scientific article published on 30 September 2016

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

scientific journal article

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

scientific article published on December 2016

The genotypic and phenotypic spectrum of MTO1 deficiency.

scientific article published on 15 November 2017

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