List of works - Uwe Ahting - Paulina

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List of works by Uwe Ahting

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Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

scientific article

MitoP2: an integrative tool for the analysis of the mitochondrial proteome

scientific article published on 09 September 2008

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

scientific article published on 25 December 2013

Proteome analysis of mitochondrial outer membrane from Neurospora crassa

scientific article published in January 2006

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

scientific article

Spectrum of combined respiratory chain defects

scientific article published on 17 March 2015

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

scientific article

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

scientific article

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

scientific article

Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import

article

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients

scientific article

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

scientific article published on 19 July 2018