A. Schaller

发表

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

S. Gallati, T. Kanel, F. Stanke, 2013, European Journal of Human Genetics.

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

S. Gallati, T. Kanel, A. Schaller, 2012, European Journal of Human Genetics.

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

S. Gallati, A. Schaller, L. Euro, 2017, American journal of medical genetics. Part A.

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

S. Gallati, H. Prokisch, A. Schaller, 2013, Journal of Medical Genetics.

Secondary Mitochondrial Genome Deletions in Hereditary Spastic Paraplegia due to SPG7 Mutations

J. Burgunder, S. Gallati, A. Schaller, 2018 .

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

S. Gallati, T. Slowinski, A. Schaller, 2012, Proceedings of the National Academy of Sciences.

Reduced atrial connexin43 expression after pediatric heart surgery.

S. Gallati, T. Carrel, J. Sanz, 2006, Biochemical and biophysical research communications.

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

S. Gallati, T. Carrel, J. Sanz, 2005, Biochemical and biophysical research communications.

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

S. Gallati, J. Hou, V. Tasic, 2008, Journal of the American Society of Nephrology : JASN.

Mitochondrial cytopathy with common MELAS mutation presenting as multiple system atrophy mimic

L. Kappos, P. Fuhr, S. Frank, 2016, Neurology: Genetics.

Analysis of Inherited Optic Neuropathies

A. Schaller, D. Schorderet, M. Todorova, 2019, Klinische Monatsblätter für Augenheilkunde.

Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients

A. Schaller, L. Berger, M. Zinkernagel, 2021, Genes.

Longitudinal case study and phenotypic multimodal characterization of McArdle disease-linked retinopathy: insight into pathomechanisms

A. Schaller, V. Vaclavik, P. Escher, 2020, Ophthalmic genetics.

Multiple clinical profiles of families with the short QT syndrome.

A. Medeiros-Domingo, A. Schaller, A. Saguner, 2018, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

Phenotypic Spectrum of HCN4 Mutations

H. Servatius, A. Schaller, A. Haeberlin, 2018 .

Late‐onset severe long QT syndrome

A. Medeiros-Domingo, A. Schaller, D. Bartholdi, 2018, Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc.

Early‐onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid‐forties patient

P. Maeder, R. Hourez, B. Lhermitte, 2022, Annals of clinical and translational neurology.

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

C. Lundby, A. Schaller, S. M. Mueller, 2017, Orphanet Journal of Rare Diseases.

Diagnosis of adult-onset MELAS syndrome in a 63-year-old patient with suspected recurrent strokes – a case report

S. Frank, C. Stippich, A. Schaller, 2019, BMC Neurology.

The Vacuolar H+-ATPase B1 Subunit Polymorphism p.E161K Associates with Impaired Urinary Acidification in Recurrent Stone Formers.

S. Gallati, A. Schaller, B. Vogt, 2016, Journal of the American Society of Nephrology : JASN.

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

A. Schaller, C. Aebi, Violeta Spaniol, 2011, BMC Microbiology.

Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production

L. Scorrano, A. Schaller, H. Simon, 2018, Nature Communications.

Mitochondrial neurogastrointestinal encephalomyopathy in three siblings

J. Burgunder, S. Gallati, F. Seibold, 2007, Journal of Neurology.

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

S. Gallati, A. Schaller, D. Belli, 2011, BMC neurology.

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

S. Gallati, A. Schaller, C. Gerth-Kahlert, 2017, BMC Medical Genetics.

A Novel Van der Woude Syndrome-Causing IRF6 Variant Is Subject to Incomplete Non-sense-Mediated mRNA Decay Affecting the Phenotype of Keratinocytes

A. Schaller, C. Katsaros, L. Parisi, 2020, Frontiers in Cell and Developmental Biology.

Mitochondrial Encephalopathy with CADASIL-Like MRI

P. Boesiger, S. Gallati, A. Henning, 2007, European Neurology.

Characterization of the Calf Thymus Hairpin-binding Factor Involved in Histone Pre-mRNA 3′ End Processing*

F. Martin, A. Schaller, B. Müller, 1997, The Journal of Biological Chemistry.

Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement.

Stephan C F Neuhauss, Dominik Seelow, Gema Ariceta, 2006, American journal of human genetics.

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

R. Wiest, S. Gallati, A. Schaller, 2011, American journal of medical genetics. Part A.

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

H. Servatius, A. Medeiros-Domingo, A. Schaller, 2018, Clinical Research in Cardiology.

Phenotypic Spectrum of HCN4 Mutations: A Clinical Case

H. Servatius, A. Medeiros-Domingo, A. Schaller, 2018, Circulation. Genomic and precision medicine.

Phenotypic Spectrum of HCN4 Mutations: A Clinical Case

H. Servatius, A. Medeiros-Domingo, A. Schaller, 2018, Circulation. Genomic and precision medicine.

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

Ethan M. Goldberg, Joshua E. Motelow, I. Scheffer, 2021, American journal of human genetics.

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

A. Schaller, C. Flück, N. Camats, 2018, European Journal of Human Genetics.

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

A. Schaller, C. Jackson, D. Hahn, 2017, European journal of medical genetics.

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

S. Gallati, Bernhard Steiner, J. Sanz, 2004, Human mutation.

A casuistic report on the Gruber or Meckel syndrome

A. Schaller, P. Altmann, P. Wagenbichler, 1977, Human Genetics.

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

A. Schaller, S. Eppenberger-Castori, U. Eppenberger, 2006, The International journal of biological markers.

Heterologous expression from the human D-Loop in organello.

S. Gallati, A. Schaller, C. Jackson, 2014, Mitochondrion.

Simultaneous Quantitative Detection of Relevant Biomarkers in Breast Cancer by Quantitative Real-Time PCR

A. Schaller, S. Eppenberger-Castori, U. Eppenberger, 2006, The International journal of biological markers.

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

S. Gallati, A. Schaller, Thomas von Kanel, 2010, Clinical chemistry.

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

S. Gallati, A. Schaller, A. Haeberli, 2016, European Journal of Pediatrics.

Rare Case of Transcutaneous Oxygen Desaturation in a Cancer Patient: A Case Report and Diagnostic Approach for a Recurrent Problem

Kaspar F. Bachmann, S. Jakob, A. Schaller, 2019, A&A practice.

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

S. Gallati, A. Schaller, C. Jackson, 2012, Biochemical and biophysical research communications.

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

Robert W. Taylor, R. Durbin, T. Wieland, 2015, Annals of clinical and translational neurology.

Sodium Pump Reduction Correlates with Aortic Clamp Time in Pediatric Heart Surgery

S. Gallati, T. Carrel, A. Schaller, 2006, Experimental biology and medicine.

Usefulness of Genetic Testing in Sudden Cardiac Arrest Survivors With or Without Previous Clinical Evidence of Heart Disease.

H. Burri, H. Servatius, A. Auricchio, 2019, The American journal of cardiology.

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

B. Rothen‐Rutishauser, A. Schaller, C. Jackson, 2014, Amino Acids.

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

A. Stadlmayr, C. Datz, H. Völzke, 2014, Human molecular genetics.

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

S. Gallati, Bernhard Steiner, J. Sanz, 2010, European Journal of Human Genetics.

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

S. Gallati, A. Schaller, C. Jackson, 2011, Mitochondrion.

Mitochondrial neurogastrointestinal encephalomyopathy in three siblings

J. Burgunder, S. Gallati, F. Seibold, 2007, Journal of Neurology.

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

F. Martin, A. Schaller, M. Huemer, 2018, Human molecular genetics.

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

A. Schaller, P. Jeannet, S. Jacquemont, 2010, Journal of Inherited Metabolic Disease.

The gene for histone RNA hairpin binding protein is located on human chromosome 4 and encodes a novel type of RNA binding protein

A. Schaller, D. Schümperli, B. Müller, 1997, The EMBO journal.

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

B. Rothen‐Rutishauser, A. Schaller, C. Jackson, 2014, Amino Acids.

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

S. Gallati, A. Schaller, C. Aebi, 2006, Proteomics.

Outer membrane porin M35 of Moraxella catarrhalis mediates susceptibility to aminopenicillins

A. Schaller, C. Aebi, Nadja Heiniger, 2009, BMC Microbiology.

Novel mitochondrial tRNAIle m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype

S. Gallati, S. Frank, A. Schaller, 2014, British Journal of Ophthalmology.

Triheptanoin – Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency

A. Schaller, M. Gautschi, F. Mochel, 2021, Molecular genetics and metabolism reports.

Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant

A. Schaller, M. Todorova, P. Escher, 2022, Klinische Monatsblätter für Augenheilkunde.

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

K. Bhatia, D. Waldvogel, L. Michels, 2018, Movement disorders : official journal of the Movement Disorder Society.

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

A. Schaller, B. Favrat, T. Kuntzer, 2017, Revue medicale suisse.

Gender Modulates the Expression of Calcium-Regulating Proteins in Pediatric Atrial Myocardium

S. Gallati, T. Carrel, Bernhard Steiner, 2005, Experimental biology and medicine.

Age-dependent suppression of SERCA2a mRNA in pediatric atrial myocardium.

S. Gallati, T. Carrel, A. Schaller, 2005, Biochemical and biophysical research communications.

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

A. Schaller, K. Mühlemann, P. Mohacsi, 2012, Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology.

Prevalence and characteristics of monogenic disease in adult kidney stone formers

R. Bruggmann, A. Schaller, J. Sayer, 2023, medRxiv.

Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome

M. Passos-Bueno, M. Warman, Philippe M. Campeau, 2023, Journal of Medical Genetics.

SwissGenVar: A platform for clinical grade interpretation of genetic variants to foster personalized health care in Switzerland

S. Cichon, M. Abramowicz, A. Schaller, 2023, medRxiv.

Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes

A. Schaller, M. Gautschi, A. Pandey, 2023, Molecular Syndromology.

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

S. Gallati, J. Sanz, A. Schaller, 2007, European Journal of Human Genetics.

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

S. Gallati, T. Slowinski, A. Schaller, 2012, Proceedings of the National Academy of Sciences.

Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production

L. Scorrano, A. Schaller, H. Simon, 2018, Nature Communications.