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List of works by Chris Ottolenghi

A Metabolic Study of Huntington's Disease

scientific article

A driver role for GABA metabolism in controlling stem and proliferative cell state through GHB production in glioma

scientific article published on 28 December 2016

A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia

scientific article

Aging of oocyte, ovary, and human reproduction

scientific article

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

scientific article

Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts

scientific article

Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference

scientific article published on June 2016

Foxl2 functions in sex determination and histogenesis throughout mouse ovary development

scientific article published on 18 June 2009

Functional analysis of the NUP98-CCDC28A fusion protein

scientific article published on 4 November 2011

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias

scientific article

Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients

scientific article published on 10 May 2015

Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells

scientific article published on 29 August 2007

Loss of succinate dehydrogenase activity results in dependency on pyruvate carboxylation for cellular anabolism

scientific article

Natural history of Barth syndrome: a national cohort study of 22 patients

scientific article

Reply: ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

scientific article published on 21 August 2015

Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein diet

scientific article published in December 2011

The region on 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex-related domain

scientific article

Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

scientific article published on 5 January 2017

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