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List of works by André Schaller

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

scientific article published on 12 April 2017

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

scientific article published on 13 November 2015

A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement

scientific article published on 01 February 2019

Age-dependent suppression of SERCA2a mRNA in pediatric atrial myocardium

scientific article published on 01 January 2005

Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?

scientific article published on 11 June 2018

CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis

scientific article published on 14 November 2007

Cardiopulmonary bypass reduces atrial Na+-K+-ATPase expression in children

scientific article published on 01 September 2005

Characterization of the calf thymus hairpin-binding factor involved in histone pre-mRNA 3' end processing.

scientific article published on April 1997

Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing

scientific article

Clinical and molecular characterization of the potential CF disease modifier syntaxin 1A.

scientific article published on 10 April 2013

Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality

scientific article published on 07 July 2011

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

scientific article

Effects of endurance training on skeletal muscle mitochondrial function in Huntington disease patients

scientific article published on 19 December 2017

Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis

scientific article published on 20 February 2014

Functional importance of conserved nucleotides at the histone RNA 3' processing site

scientific article

Gender modulates the expression of calcium-regulating proteins in pediatric atrial myocardium

scientific article published on 01 December 2005

Handling mammalian mitochondrial tRNAs and aminoacyl-tRNA synthetases for functional and structural characterization

scientific article published on 01 February 2008

Heterologous expression from the human D-Loop in organello

scientific article published on 6 June 2014

Identification of SNPs in the cystic fibrosis interactome influencing pulmonary progression in cystic fibrosis

scientific article published on 15 August 2012

Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia

scientific article

Late-onset severe long QT syndrome.

scientific article

Loss of insulin-induced activation of TRPM6 magnesium channels results in impaired glucose tolerance during pregnancy

scientific article

Menkes' disease: heterozygosity testing by quantitative real-time PCR and the dilemma of therapeutic support

scientific article published in September 2005

Mitochondrial encephalopathy with CADASIL-like MRI.

scientific article

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

article

Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features

scientific article published on 9 February 2007

Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study

scientific article published on 11 May 2010

Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome

scientific article

Movement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum

scientific article published on 13 September 2017

Multiple clinical profiles of families with the short QT syndrome.

scientific article published on 19 July 2017

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

scientific article published on 23 December 2013

Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production

scientific article published in Nature Communications

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

scientific article

Outer membrane porin M35 of Moraxella catarrhalis mediates susceptibility to aminopenicillins

scientific article

Phenotypic Spectrum of HCN4 Mutations: A Clinical Case

scientific article published on 01 February 2018

Physiologic cold shock of Moraxella catarrhalis affects the expression of genes involved in the iron acquisition, serum resistance and immune evasion

scientific article

Quantitative 1-step DNA methylation analysis with native genomic DNA as template

scientific article published on 14 May 2010

Rapid and reliable genotyping of polymorphic loci modifying correct splicing of CFTR pre-mRNA using mass spectrometry

scientific article published on 4 October 2006

Rapid typing of Moraxella catarrhalis subpopulations based on outer membrane proteins using mass spectrometry

scientific article

Reduced atrial connexin43 expression after pediatric heart surgery

scientific article published on 06 February 2006

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

scientific article published on 28 September 2016

Sensitive and rapid detection of ganciclovir resistance by PCR based MALDI-TOF analysis

scientific article

Simultaneous quantitative detection of relevant biomarkers in breast cancer by quantitative real-time PCR.

scientific article published in January 2006

Sodium pump reduction correlates with aortic clamp time in pediatric heart surgery

scientific article published on 01 September 2006

The CFTR frameshift mutation 3905insT and its effect at transcript and protein level.

scientific article

The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles

scientific article published in August 2004

Unexplained cardiac arrest: a tale of conflicting interpretations of KCNQ1 genetic test results

scientific article published on 26 March 2018

[Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example].

scientific article

qPCR-based mitochondrial DNA quantification: influence of template DNA fragmentation on accuracy.

scientific article published on 05 June 2012

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