List of works by Birgit Czermin

Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations

scholarly article by Ulrike Schara et al published 10 December 2010 in Journal of Inherited Metabolic Disease

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.

scientific article

Clinical and neuropathological findings in patients with TACO1 mutations

scientific article published on 19 August 2010

Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.

scientific article

Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation

scientific article published on 24 April 2010

NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome

scientific article published on 18 November 2012

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

scientific article published on 17 December 2010

OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy

scientific article

Respiratory chain deficiency in nonmitochondrial disease

scientific article published on 27 April 2015

The prevalence and natural history of dominant optic atrophy due to OPA1 mutations

scientific article

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

scientific article published in July 2014

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

scientific article

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