Dagmar Hahn

Bern, BE, Switzerland

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 10 publications

A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy.

A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy.

Journal: European journal of medical genetics

Published: October 12, 2016

SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement.

SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement.

Journal: American journal of medical genetics. Part A

Published: October 22, 2015

A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly.

A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly.

Journal: European journal of pediatrics

Published: June 12, 2015

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

Journal: Annals of clinical and translational neurology

Published: January 29, 2015

Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation.

Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation.

Journal: Molecular genetics and metabolism

Published: December 19, 2014

Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype.

Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype.

Journal: The British journal of ophthalmology

Published: July 19, 2014

Mitochondrial leucine tRNA level and PTCD1 are regulated in response to leucine starvation.

Mitochondrial leucine tRNA level and PTCD1 are regulated in response to leucine starvation.

Journal: Amino acids

Published: February 03, 2014

Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.

Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.

Journal: Journal of medical genetics

Published: December 25, 2013

Metformin inhibits human androgen production by regulating steroidogenic enzymes HSD3B2 and CYP17A1 and complex I activity of the respiratory chain.

Metformin inhibits human androgen production by regulating steroidogenic enzymes HSD3B2 and CYP17A1 and complex I activity of the respiratory chain.

Journal: Endocrinology

Published: July 11, 2012

Disruption of the histidine triad nucleotide-binding hint2 gene in mice affects glycemic control and mitochondrial function.

Disruption of the histidine triad nucleotide-binding hint2 gene in mice affects glycemic control and mitochondrial function.

Journal: Hepatology (Baltimore, Md.)

Published: November 05, 2011

Showing 1-10 of 10

Last Updated: 09/26/2026