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List of works by Cristina Jou

Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.

scientific article

Correction: Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets

scientific article published on 14 May 2015

Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

scientific article published on 28 July 2015

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction.

scientific article published on 11 February 2016

Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

scientific article

Mutation loads in different tissues from six pathogenic mtDNA point mutations.

scientific article published on 10 March 2015

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

scientific article

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

scientific article published on 30 June 2016

mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

article

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