Articles with public access mandates - André SchallerLearn more
Not available anywhere: 1
Movement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum
SR Schreglmann, F Riederer, M Galovic, C Ganos, G Kägi, D Waldvogel, ...
Movement disorders 33 (1), 146-155, 2018
Mandates: Swiss National Science Foundation, German Research Foundation, Volkswagen …
Available somewhere: 25
Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production
P Amini, D Stojkov, A Felser, CB Jackson, C Courage, A Schaller, ...
Nature communications 9 (1), 2958, 2018
Mandates: Swiss National Science Foundation
Deficiency of ECHS 1 causes mitochondrial encephalopathy with cardiac involvement
TB Haack, CB Jackson, K Murayama, LS Kremer, A Schaller, ...
Annals of clinical and translational neurology 2 (5), 492-509, 2015
Mandates: Austrian Science Fund, German Research Foundation, UK Medical Research …
Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis
F Stickel, S Buch, H Zoller, R Hultcrantz, S Gallati, C Österreicher, ...
Human molecular genetics 23 (14), 3883-3890, 2014
Mandates: Swiss National Science Foundation
Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?
N Camats, M Fernández-Cancio, L Audí, A Schaller, CE Flück
European Journal of Human Genetics 26 (9), 1329-1338, 2018
Mandates: Swiss National Science Foundation, Government of Spain
The vacuolar H+-ATPase B1 subunit polymorphism p. E161K associates with impaired urinary acidification in recurrent stone formers
NA Dhayat, A Schaller, G Albano, J Poindexter, C Griffith, A Pasch, ...
Journal of the American Society of Nephrology 27 (5), 1544-1554, 2016
Mandates: Swiss National Science Foundation, US National Institutes of Health
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
JE Motelow, G Povysil, RS Dhindsa, KE Stanley, AS Allen, YCA Feng, ...
The American Journal of Human Genetics 108 (6), 965-982, 2021
Mandates: US National Institutes of Health, UK Medical Research Council
SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement
C Courage, CB Jackson, D Hahn, L Euro, JM Nuoffer, S Gallati, A Schaller
American Journal of Medical Genetics Part A 173 (1), 225-230, 2017
Mandates: Swiss National Science Foundation
A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and …
CB Jackson, M Huemer, R Bolognini, F Martin, G Szinnai, BC Donner, ...
Human molecular genetics 28 (4), 639-649, 2019
Mandates: Swiss National Science Foundation, Academy of Finland
A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy
CB Jackson, D Hahn, B Schröter, U Richter, BJ Battersby, ...
European journal of medical genetics 60 (6), 345-351, 2017
Mandates: Swiss National Science Foundation, Academy of Finland
Quantitative 1-step DNA methylation analysis with native genomic DNA as template
T von Kanel, D Gerber, A Schaller, A Baumer, E Wey, CB Jackson, ...
Clinical chemistry 56 (7), 1098-1106, 2010
Mandates: Swiss National Science Foundation
Phenotypic Spectrum of HCN4 Mutations: A Clinical Case
H Servatius, A Porro, SA Pless, A Schaller, B Asatryan, H Tanner, ...
Circulation: Genomic and Precision Medicine 11 (2), e002033, 2018
Mandates: Fondazione Cariplo
Physiologic cold shock of Moraxella catarrhalisaffects the expression of genes involved in the iron acquisition, serum resistance and immune evasion
V Spaniol, R Troller, A Schaller, C Aebi
BMC microbiology 11, 1-12, 2011
Mandates: Swiss National Science Foundation
Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia
A Schaller, R Desetty, D Hahn, CB Jackson, JM Nuoffer, S Gallati, ...
Mitochondrion 11 (3), 488-496, 2011
Mandates: US National Institutes of Health
Effects of endurance training on skeletal muscle mitochondrial function in Huntington disease patients
SM Mueller, SM Gehrig, JA Petersen, S Frese, V Mihaylova, M Ligon-Auer, ...
Orphanet journal of rare diseases 12, 1-7, 2017
Mandates: Swiss National Science Foundation
Outer membrane porin M35 of Moraxella catarrhalis mediates susceptibility to aminopenicillins
M Jetter, N Heiniger, V Spaniol, R Troller, A Schaller, C Aebi
BMC microbiology 9, 1-13, 2009
Mandates: Swiss National Science Foundation
Clinical and molecular characterization of the potential CF disease modifier syntaxin 1A
T Von Kanel, F Stanke, M Weber, A Schaller, J Racine, R Kraemer, ...
European Journal of Human Genetics 21 (12), 1462-1466, 2013
Mandates: Swiss National Science Foundation
The CFTR frameshift mutation 3905insT and its effect at transcript and protein level
J Sanz, T Von Känel, M Schneider, B Steiner, A Schaller, S Gallati
European journal of human genetics 18 (2), 212-217, 2010
Mandates: Swiss National Science Foundation
Unexplained cardiac arrest: a tale of conflicting interpretations of KCNQ1 genetic test results
HC Chua, H Servatius, B Asatryan, A Schaller, C Rieubland, F Noti, ...
Clinical research in cardiology 107, 670-678, 2018
Mandates: Carlsberg Foundation DK
Prevalence and characteristics of genetic disease in adult kidney stone formers
MA Anderegg, EG Olinger, M Bargagli, R Geraghty, L Taylor, A Nater, ...
Nephrology Dialysis Transplantation, gfae074, 2024
Mandates: Swiss National Science Foundation, UK Medical Research Council
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