Works by Schaller, Andre

Results: 34

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

Published in:

Amino Acids, 2014, v. 46, n. 7, p. 1775, doi. 10.1007/s00726-014-1730-2

By:

Schild, Christof;
Hahn, Dagmar;
Schaller, André;
Jackson, Christopher;
Rothen-Rutishauser, Barbara;
Mirkovitch, Jelena;
Nuoffer, Jean-Marc

Publication type:

Article

Late-onset severe long QT syndrome.

Published in:

2018

By:

Asatryan, Babken;
Schaller, André;
Bartholdi, Deborah;
Medeiros‐Domingo, Argelia;
Medeiros-Domingo, Argelia

Publication type:

Case Study

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

Published in:

2017

By:

Mueller, Sandro Manuel;
Gehrig, Saskia Maria;
Petersen, Jens A.;
Frese, Sebastian;
Mihaylova, Violeta;
Ligon-Auer, Maria;
Khmara, Natalia;
Nuoffer, Jean-Marc;
Schaller, André;
Lundby, Carsten;
Toigo, Marco;
Jung, Hans H.

Publication type:

journal article

Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by <sup>1</sup>H HR‐MAS NMR.

Published in:

Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 270, doi. 10.1002/jimd.12696

By:

Meyer, Christoph;
Hertig, Damian;
Arnold, Janine;
Urzi, Christian;
Kurth, Sandra;
Mayr, Johannes A.;
Schaller, André;
Vermathen, Peter;
Nuoffer, Jean‐Marc

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 219, doi. 10.1007/s10545-010-9098-2

By:

Ballhausen, Diana;
Guerry, Frédéric;
Hahn, Dagmar;
Schaller, André;
Nuoffer, Jean‐Marc;
Bonafé, Luisa;
Jeannet, Pierre‐Yves;
Jacquemont, Sebastien

Publication type:

Article

Prevalence and characteristics of genetic disease in adult kidney stone formers.

Published in:

Nephrology Dialysis Transplantation, 2024, v. 39, n. 9, p. 1426, doi. 10.1093/ndt/gfae074

By:

Anderegg, Manuel A;
Olinger, Eric G;
Bargagli, Matteo;
Geraghty, Rob;
Taylor, Lea;
Nater, Alexander;
Bruggmann, Rémy;
Sayer, John A;
Vogt, Bruno;
Schaller, André;
Fuster, Daniel G

Publication type:

Article

SwissGenVar : A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland.

Published in:

Journal of Personalized Medicine, 2024, v. 14, n. 6, p. 648, doi. 10.3390/jpm14060648

By:

Kraemer, Dennis;
Terumalai, Dillenn;
Famiglietti, Maria Livia;
Filges, Isabel;
Joset, Pascal;
Koller, Samuel;
Maurer, Fabienne;
Meier, Stéphanie;
Nouspikel, Thierry;
Sanz, Javier;
Zweier, Christiane;
Abramowicz, Marc;
Berger, Wolfgang;
Cichon, Sven;
Schaller, André;
Superti-Furga, Andrea;
Barbié, Valérie;
Rauch, Anita

Publication type:

Article

Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production.

Published in:

Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-05387-y

By:

Amini, Poorya;
Stojkov, Darko;
Felser, Andrea;
Jackson, Christopher B.;
Courage, Carolina;
Schaller, André;
Gelman, Laurent;
Soriano, Maria Eugenia;
Nuoffer, Jean-Marc;
Scorrano, Luca;
Benarafa, Charaf;
Yousefi, Shida;
Simon, Hans-Uwe

Publication type:

Article

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

Published in:

2018

By:

Schreglmann, Sebastian R.;
Riederer, Franz;
Galovic, Marian;
Ganos, Christos;
Kägi, Georg;
Waldvogel, Daniel;
Jaunmuktane, Zane;
Schaller, Andre;
Hidding, Ute;
Krasemann, Ernst;
Michels, Lars;
Baumann, Christian R.;
Bhatia, Kailash;
Jung, Hans H.

Publication type:

journal article

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

Published in:

Human Molecular Genetics, 2019, v. 28, n. 4, p. 639, doi. 10.1093/hmg/ddy374

By:

Jackson, Christopher B;
Huemer, Martina;
Bolognini, Ramona;
Martin, Franck;
Szinnai, Gabor;
Donner, Birgit C;
Richter, Uwe;
Battersby, Brendan J;
Nuoffer, Jean-Marc;
Suomalainen, Anu;
Schaller, André

Publication type:

Article

Non‐Hotspot PIK3CA Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular Malformations.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63883

By:

Andreoti, Themis‐Areti A.;
Maiolo, Massimo;
Tuleja, Aleksandra;
Döring, Yvonne;
Schaller, André;
Vassella, Erik;
Boon, Laurence M.;
Baumgartner, Iris;
Bernhard, Sarah M.;
Zweier, Christiane;
Vikkula, Miikka;
Rössler, Jochen

Publication type:

Article

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

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0383-x

By:

Bolognini, Ramona;
Gerth-Kahlert, Christina;
Abegg, Mathias;
Bartholdi, Deborah;
Mathis, Nicolas;
Sturm, Veit;
Gallati, Sabina;
Schaller, André

Publication type:

Article

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

Published in:

Human Mutation, 2004, v. 24, n. 2, p. 120, doi. 10.1002/humu.20064

By:

Steiner, Bernhard;
Truninger, Kaspar;
Sanz, Javier;
Schaller, André;
Gallati, Sabina

Publication type:

Article

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

Published in:

BMC Neurology, 2011, v. 11, n. 1, p. 1, doi. 10.1186/1471-2377-11-4

By:

Schaller, André;
Hahn, Dagmar;
Jackson, Christopher B.;
Kern, Ilse;
Chardot, Christophe;
Belli, Dominique C.;
Gallati, Sabina;
Nuoffer, Jean-Marc

Publication type:

Article

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

Published in:

2022

By:

Gschwind, Markus;
Garcia Segarra, Nuria;
Schaller, André;
Bolognini, Ramona;
Nuoffer, Jean‐Marc;
Hourez, Raphael;
Deprez, Manuel;
Lhermitte, Benoit;
Maeder, Philippe;
Tran, Christel;
Kuntzer, Thierry

Publication type:

Case Study

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

Published in:

Annals of Clinical & Translational Neurology, 2015, v. 2, n. 5, p. 492, doi. 10.1002/acn3.189

By:

Haack, Tobias B.;
Jackson, Christopher B.;
Murayama, Kei;
Kremer, Laura S.;
Schaller, André;
Kotzaeridou, Urania;
Vries, Maaike C.;
Schottmann, Gudrun;
Santra, Saikat;
Büchner, Boriana;
Wieland, Thomas;
Graf, Elisabeth;
Freisinger, Peter;
Eggimann, Sandra;
Ohtake, Akira;
Okazaki, Yasushi;
Kohda, Masakazu;
Kishita, Yoshihito;
Tokuzawa, Yoshimi;
Sauer, Sascha

Publication type:

Article

Mitochondrial Encephalopathy with CADASIL-Like MRI.

Published in:

European Neurology, 2007, v. 58, n. 3, p. 185, doi. 10.1159/000104723

By:

Akhvlediani, Tamar;
Sandor, Peter S.;
Henning, Anke;
Schaller, André;
Jauslin, Marco;
Gallati, Sabina;
Boesiger, Peter;
Jung, Hans H.

Publication type:

Article

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

Published in:

EMBO Journal, 1997, v. 16, n. 4, p. 769, doi. 10.1093/emboj/16.4.769

By:

Martin, Franck;
Schaller, André;
Eglite, Santa;
Schümperli, Daniel;
Müller, Berndt

Publication type:

Article

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

Published in:

Proteomics, 2006, v. 6, n. 1, p. 172, doi. 10.1002/pmic.200500086

By:

André Schaller;
Rolf Troller;
Daniel Molina;
Sabina Gallati;
Christoph Aebi;
Patricia Stutzmann Meier

Publication type:

Article

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

Published in:

Clinical Research in Cardiology, 2018, v. 107, n. 8, p. 670, doi. 10.1007/s00392-018-1233-3

By:

Chua, Han Chow;
Servatius, Helge;
Asatryan, Babken;
Schaller, André;
Rieubland, Claudine;
Noti, Fabian;
Seiler, Jens;
Roten, Laurent;
Baldinger, Samuel H.;
Tanner, Hildegard;
Fuhrer, Juerg;
Haeberlin, Andreas;
Lam, Anna;
Pless, Stephan A.;
Medeiros-Domingo, Argelia

Publication type:

Article

Ambiguous Genitalia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency: Clinical, Genetic, and Functional Characterization of Two Novel HSD3B2 Variants.

Published in:

2025

By:

Liimatta, Jani;
Sauter, Kay;
Toit, Therina du;
Schaller, André;
l'Allemand, Dagmar;
Flück, Christa E

Publication type:

Case Study

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

Published in:

Molecular Syndromology, 2023, v. 14, n. 4, p. 347, doi. 10.1159/000529306

By:

Grassi, Mara;
Laubscher, Bernard;
Pandey, Amit V.;
Tschumi, Sibylle;
Graber, Franziska;
Schaller, André;
Janner, Marco;
Aeberli, Daniel;
Hewer, Ekkehard;
Nuoffer, Jean-Marc;
Gautschi, Matthias

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1462, doi. 10.1038/ejhg.2013.57

By:

von Kanel, Thomas;
Stanke, Frauke;
Weber, Melanie;
Schaller, Andre;
Racine, Julien;
Kraemer, Richard;
Chanson, Marc;
Tümmler, Burkhard;
Gallati, Sabina

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 4, p. 397, doi. 10.1038/ejhg.2012.181

By:

Gisler, Franziska M;
von Kanel, Thomas;
Kraemer, Richard;
Schaller, André;
Gallati, Sabina

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 2, p. 212, doi. 10.1038/ejhg.2009.140

By:

Sanz, Javier;
von Känel, Thomas;
Schneider, Mircea;
Steiner, Bernhard;
Schaller, André;
Gallati, Sabina

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 1, p. 53, doi. 10.1038/sj.ejhg.5201725

By:

Schaller, André;
Von Känel, Thomas;
Gehr, Benedikt;
Sanz, Javier;
Gallati, Sabina

Publication type:

Article

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

Published in:

Experimental Biology & Medicine, 2006, v. 231, n. 8, p. 1300, doi. 10.1177/153537020623100803

By:

Pavlovic, Mladen;
Schaller, André;
Ammann, Roland A.;
Pfammatter, Jean-Pierre;
Berdat, Pascal;
Carrel, Thierry;
Gallati, Sabina

Publication type:

Article

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

Published in:

Experimental Biology & Medicine, 2005, v. 230, n. 11, p. 853, doi. 10.1177/153537020523001110

By:

Pavlovic, Mladen;
Schaller, André;
Steiner, Bernhard;
Berdat, Pascal;
Carrel, Thierry;
Pfammatter, Jean-Pierre;
Ammann, Roland A.;
Gallati, Sabina

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3883, doi. 10.1093/hmg/ddu076

By:

Stickel, Felix;
Buch, Stephan;
Zoller, Heinz;
Hultcrantz, Rolf;
Gallati, Sabina;
Österreicher, Christoph;
Finkenstedt, Armin;
Stadlmayr, Andreas;
Aigner, Elmar;
Sahinbegovic, Enijad;
Sarrazin, Christoph;
Schafmayer, Clemens;
Braun, Felix;
Erhart, Wiebke;
Nothnagel, Michael;
Lerch, Markus M.;
Mayerle, Julia;
Völzke, Henry;
Schaller, André;
Kratzer, Wolfgang

Publication type:

Article

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

Published in:

Ophthalmic Genetics, 2020, v. 41, n. 1, p. 73, doi. 10.1080/13816810.2020.1727536

By:

Vaclavik, Veronika;
Naderi, Francine;
Schaller, André;
Escher, Pascal

Publication type:

Article

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

Published in:

Genes, 2021, v. 13, n. 6, p. 812, doi. 10.3390/genes12060812

By:

Buhler, Virginie M.M.;
Berger, Lieselotte;
Schaller, André;
Zinkernagel, Martin S.;
Wolf, Sebastian;
Escher, Pascal

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 225, doi. 10.1002/ajmg.a.37986

By:

Courage, Carolina;
Jackson, Christopher B.;
Hahn, Dagmar;
Euro, Liliya;
Nuoffer, Jean‐Marc;
Gallati, Sabina;
Schaller, André

Publication type:

Article

Quantitative 1-Step DNA Methylation Analysis with Native Genomic DNA as Template.

Published in:

Clinical Chemistry, 2010, v. 56, n. 7, p. 1098, doi. 10.1373/clinchem.2009.142828

By:

Kanel, Thomas von;
Gerber, Dominik;
Schaller, André;
Baumer, Alessandra;
Wey, Eva;
Jackson, Christopher B.;
Gisler, Franziska M.;
Heinimann, Karl;
Gallati, Sabina

Publication type:

Article

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

Published in:

2019

By:

Sinnecker, Tim;
Andelova, Michaela;
Mayr, Michael;
Rüegg, Stephan;
Sinnreich, Michael;
Hench, Juergen;
Frank, Stephan;
Schaller, André;
Stippich, Christoph;
Wuerfel, Jens;
Bonati, Leo H.

Publication type:

journal article