List of works - Tobias B Haack - Paulina

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List of works by Tobias B Haack

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Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency

article

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

scientific article

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2

scientific journal article

EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum

scientific article published on 16 January 2016

Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

scientific article published on 3 January 2018

Severe respiratory complex III defect prevents liver adaptation to prolonged fasting

scientific article published on 2 May 2016

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

The many faces of paediatric mitochondrial disease on neuroimaging

scientific article

The genotypic and phenotypic spectrum of MTO1 deficiency.

scientific article published on 15 November 2017

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

scientific article published on 19 July 2018

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

scientific article published in June 2019

Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration

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