Biallelic loss‐of‐function variants in RBL2 in siblings with a neurodevelopmental disorder

por Brunet, Theresa, Radivojkov‐Blagojevic, Milena, Lichtner, Peter, Kraus, Verena, Meitinger, Thomas, Wagner, Matias
Publicado 2020

The m.9143T>C Variant: Recurrent Infections and Immunodeficiency as an Extension of the Phenotypic Spectrum in MT-ATP6 Mutations?

por Lehmann Urban, Diana, Motlagh Scholle, Leila, Wagner, Matias, Ludolph, Albert C., Rosenbohm, Angela
Publicado 2020

Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases

por Kolarova, Hana, Tan, Jing, Strom, Tim M., Meitinger, Thomas, Wagner, Matias, Klopstock, Thomas
Publicado 2022

Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing

por Krenn, Martin, Milenkovic, Ivan, Eckstein, Gertrud, Zimprich, Fritz, Meitinger, Thomas, Foki, Thomas, Wagner, Matias
Publicado 2019

Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis

por Radelfahr, Florentine, Riedhammer, Korbinian M., Keidel, Leonie F., Gramer, Gwendolyn, Meitinger, Thomas, Klopstock, Thomas, Wagner, Matias
Publicado 2020

A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy

por Brugger, Melanie, Becker‐Dettling, Fiona, Brunet, Theresa, Strom, Tim, Meitinger, Thomas, Lurz, Eberhard, Borggraefe, Ingo, Wagner, Matias
Publicado 2020

Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and...

por Riedhammer, Korbinian Maria, Siegel, Corinna, Alhaddad, Bader, Montoya, Carmen, Kovacs-Nagy, Reka, Wagner, Matias, Meitinger, Thomas, Hoefele, Julia
Publicado 2017

Targeted Molecular Strategies for Genetic Neurodevelopmental Disorders: Emerging Lessons from Dravet Syndrome

por Lersch, Robert, Jannadi, Rawan, Grosse, Leonie, Wagner, Matias, Schneider, Marius Frederik, von Stülpnagel, Celina, Heinen, Florian, Potschka, Heidrun, Borggraefe, Ingo
Publicado 2022

Teaching case 1-2020 – ADDENDUM: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to a novel CSF1R mutation – An unusual cause of dementia

por Klotz, Sigrid, Riederer, Franz, Hergovich, Nora, Schlager, Thomas, Steinkellner, Lara, Fertl, Elisabeth, Baumgartner, Christoph, Wagner, Matias, Zimprich, Alexander, Gelpi, Ellen
Publicado 2022

Phenotypic variability of GABRA1‐related epilepsy in monozygotic twins

por Krenn, Martin, Ernst, Margot, Tomschik, Matthias, Treven, Marco, Wagner, Matias, Westphal, Dominik S., Meitinger, Thomas, Pataraia, Ekaterina, Zimprich, Fritz, Aull‐Watschinger, Susanne
Publicado 2019

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases

por Tan, Jing, Wagner, Matias, Stenton, Sarah L., Strom, Tim M., Wortmann, Saskia B., Prokisch, Holger, Meitinger, Thomas, Oexle, Konrad, Klopstock, Thomas
Publicado 2020

Corrigendum to “Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases” [EBioMedicine 54 (2020) 102730]

por Tan, Jing, Wagner, Matias, Stenton, Sarah L., Strom, Tim M., Wortmann, Saskia B., Prokisch, Holger, Meitinger, Thomas, Oexle, Konrad, Klopstock, Thomas
Publicado 2020

Cognitive performance and behavior across idiopathic/genetic epilepsies in children and adolescents

por Moorhouse, Frederik Jan, Cornell, Sonia, Gerstl, Lucia, Tacke, Moritz, Roser, Timo, Heinen, Florian, Bonfert, Michaela, von Stülpnagel, Celina, Wagner, Matias, Borggraefe, Ingo
Publicado 2020

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy

por Krenn, Martin, Knaus, Alexej, Westphal, Dominik S., Wortmann, Saskia B., Polster, Tilman, Woermann, Friedrich G., Karenfort, Michael, Mayatepek, Ertan, Meitinger, Thomas, Wagner, Matias, Distelmaier, Felix
Publicado 2019

A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype

por Vogel, Florian D., Krenn, Martin, Westphal, Dominik S., Graf, Elisabeth, Wagner, Matias, Leiz, Steffen, Koniuszewski, Filip, Augé‐Stock, Maximilian, Kramer, Georg, Scholze, Petra, Ernst, Margot
Publicado 2022

Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes

por Silvaieh, Sara, König, Theresa, Wurm, Raphael, Parvizi, Tandis, Berger-Sieczkowski, Evelyn, Goeschl, Stella, Hotzy, Christoph, Wagner, Matias, Berutti, Riccardo, Sammler, Esther, Stögmann, Elisabeth, Zimprich, Alexander
Publicado 2023

Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes

por Silvaieh, Sara, König, Theresa, Wurm, Raphael, Parvizi, Tandis, Berger-Sieczkowski, Evelyn, Goeschl, Stella, Hotzy, Christoph, Wagner, Matias, Berutti, Riccardo, Sammler, Esther, Stögmann, Elisabeth, Zimprich, Alexander
Publicado 2023

Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS

por Braun, Frederik, Hentschel, Andreas, Sickmann, Albert, Marteau, Theodore, Hertel, Swantje, Förster, Fabian, Prokisch, Holger, Wagner, Matias, Wortmann, Saskia, Della Marina, Adela, Kölbel, Heike, Roos, Andreas, Schara-Schmidt, Ulrike
Publicado 2021

Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS

por Braunisch, Matthias Christoph, Riedhammer, Korbinian Maria, Herr, Pierre-Maurice, Draut, Sarah, Günthner, Roman, Wagner, Matias, Weidenbusch, Marc, Lungu, Adrian, Alhaddad, Bader, Renders, Lutz, Strom, Tim M., Heemann, Uwe, Meitinger, Thomas, Schmaderer, Christoph, Hoefele, Julia
Publicado 2020

Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum

por Krenn, Martin, Salzer, Elisabeth, Simonitsch-Klupp, Ingrid, Rath, Jakob, Wagner, Matias, Haack, Tobias B., Strom, Tim M., Schänzer, Anne, Kilimann, Manfred W., Schmidt, Ralf L. J., Schmetterer, Klaus G., Zimprich, Alexander, Boztug, Kaan, Hahn, Andreas, Zimprich, Fritz
Publicado 2017