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Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants.
Published in:
Pediatric Pulmonology, 2020, v. 55, n. 11, p. 3057, doi. 10.1002/ppul.25031
By:
- Lenz, Dominic;
- Stahl, Mirjam;
- Seidl, Elias;
- Schöndorf, Dominik;
- Brennenstuhl, Heiko;
- Gesenhues, Florian;
- Heinzmann, Tina;
- Longerich, Thomas;
- Mendes, Marisa I.;
- Prokisch, Holger;
- Salomons, Gajja S.;
- Schön, Carola;
- Smith, Desirée E. C.;
- Sommerburg, Olaf;
- Wagner, Matias;
- Westhoff, Jens H.;
- Reiter, Karl;
- Staufner, Christian;
- Griese, Matthias
Publication type:
Article
Opposite microglial activation stages upon loss of PGRN or TREM2 result in reduced cerebral glucose metabolism.
Published in:
EMBO Molecular Medicine, 2019, v. 11, n. 6, p. N.PAG, doi. 10.15252/emmm.201809711
By:
- Götzl, Julia K;
- Brendel, Matthias;
- Werner, Georg;
- Parhizkar, Samira;
- Sebastian Monasor, Laura;
- Kleinberger, Gernot;
- Colombo, Alessio‐Vittorio;
- Deussing, Maximilian;
- Wagner, Matias;
- Winkelmann, Juliane;
- Diehl‐Schmid, Janine;
- Levin, Johannes;
- Fellerer, Katrin;
- Reifschneider, Anika;
- Bultmann, Sebastian;
- Bartenstein, Peter;
- Rominger, Axel;
- Tahirovic, Sabina;
- Smith, Scott T;
- Madore, Charlotte
Publication type:
Article
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
Published in:
2022
By:
- Mirza-Schreiber, Nazanin;
- Zech, Michael;
- Wilson, Rory;
- Brunet, Theresa;
- Wagner, Matias;
- Jech, Robert;
- Boesch, Sylvia;
- Škorvánek, Matej;
- Necpál, Ján;
- Weise, David;
- Weber, Sandrina;
- Mollenhauer, Brit;
- Trenkwalder, Claudia;
- Maier, Esther M;
- Borggraefe, Ingo;
- Vill, Katharina;
- Hackenberg, Annette;
- Pilshofer, Veronika;
- Kotzaeridou, Urania;
- Schwaibold, Eva Maria Christina
Publication type:
journal article
MATR3 haploinsufficiency and early-onset neurodegeneration.
Published in:
2021
By:
- Zech, Michael;
- Seibt, Annette;
- Zumbaum, Barbara;
- Klee, Dirk;
- Meitinger, Thomas;
- Winkelmann, Juliane;
- Mayatepek, Ertan;
- Wagner, Matias;
- Distelmaier, Felix;
- Mayatpepek, Ertan
Publication type:
Case Study
Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum.
Published in:
2021
By:
- Kaiyrzhanov, Rauan;
- Wortmann, Saskia;
- Reid, Taryn;
- Dehghani, Mohammadreza;
- Mehrjardi, Mohammad Yahya Vahidi;
- Alhaddad, Bader;
- Wagner, Matias;
- Deschauer, Marcus;
- Cordts, Isabell;
- Fernandez-Murray, J Pedro;
- Treffer, Veronika;
- Metanat, Zahra;
- Pitman, Alan;
- Houlden, Henry;
- Meitinger, Thomas;
- Carroll, Christopher;
- McMaster, Christopher R;
- Maroofian, Reza;
- Vahidi Mehrjardi, Mohammad Yahya
Publication type:
Letter
Early-onset phenotype of bi-allelic GRN mutations.
Published in:
2021
By:
- Neuray, Caroline;
- Sultan, Tipu;
- Alvi, Javeira Raza;
- Franca, Marcondes C;
- Assmann, Birgit;
- Wagner, Matias;
- Canafoglia, Laura;
- Franceschetti, Silvana;
- Rossi, Giacomina;
- Santana, Isabel;
- Macario, Maria C;
- Almeida, Maria R;
- Kamate, Mahesh;
- Parikh, Sumit;
- Elloumi, Houda Zghal;
- Murphy, David;
- Efthymiou, Stephanie;
- Maroofian, Reza;
- Houlden, Henry
Publication type:
Letter
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
Published in:
2019
By:
- Esposito, Alessandro;
- Falace, Antonio;
- Wagner, Matias;
- Gal, Moran;
- Mei, Davide;
- Conti, Valerio;
- Pisano, Tiziana;
- Aprile, Davide;
- Cerullo, Maria Sabina;
- Fusco, Antonio De;
- Giovedì, Silvia;
- Seibt, Annette;
- Magen, Daniella;
- Polster, Tilman;
- Eran, Ayelet;
- Stenton, Sarah L;
- Fiorillo, Chiara;
- Ravid, Sarit;
- Mayatepek, Ertan;
- Hafner, Hava
Publication type:
journal article
Relationship of serum beta‐synuclein with blood biomarkers and brain atrophy.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, n. 4, p. 1358, doi. 10.1002/alz.12790
By:
- Oeckl, Patrick;
- Anderl‐Straub, Sarah;
- Danek, Adrian;
- Diehl‐Schmid, Janine;
- Fassbender, Klaus;
- Fliessbach, Klaus;
- Halbgebauer, Steffen;
- Huppertz, Hans‐Jürgen;
- Jahn, Holger;
- Kassubek, Jan;
- Kornhuber, Johannes;
- Landwehrmeyer, Bernhard;
- Lauer, Martin;
- Prudlo, Johannes;
- Schneider, Anja;
- Schroeter, Matthias L.;
- Steinacker, Petra;
- Volk, Alexander E.;
- Wagner, Matias;
- Winkelmann, Juliane
Publication type:
Article
Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 15, p. 7835, doi. 10.3390/ijms22157835
By:
- 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
Publication type:
Article
Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes.
Published in:
2023
By:
- 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
Publication type:
Correction Notice
CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph.
Published in:
NAR Genomics & Bioinformatics, 2021, v. 3, n. 3, p. 1, doi. 10.1093/nargab/lqab078
By:
- Chengyao Peng;
- Dieck, Simon;
- Schmid, Alexander;
- Ahmad, Ashar;
- Knaus, Alexej;
- Wenzel, Maren;
- Mehnert, Laura;
- Zirn, Birgit;
- Haack, Tobias;
- Ossowski, Stephan;
- Wagner, Matias;
- Brunet, Theresa;
- Ehmke, Nadja;
- Danyel, Magdalena;
- Rosnev, Stanislav;
- Kamphans, Tom;
- Nadav, Guy;
- Fleischer, Nicole;
- Fröhlich, Holger;
- Krawitz, Peter
Publication type:
Article
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
Published in:
Human Genetics, 2022, v. 141, n. 2, p. 257, doi. 10.1007/s00439-021-02412-x
By:
- Kreienkamp, Hans-Jürgen;
- Wagner, Matias;
- Weigand, Heike;
- McConkie-Rossell, Allyn;
- McDonald, Marie;
- Keren, Boris;
- Mignot, Cyril;
- Gauthier, Julie;
- Soucy, Jean-François;
- Michaud, Jacques L.;
- Dumas, Meghan;
- Smith, Rosemarie;
- Löbel, Ulrike;
- Hempel, Maja;
- Kubisch, Christian;
- Denecke, Jonas;
- Campeau, Philippe M.;
- Bain, Jennifer M.;
- Lessel, Davor
Publication type:
Article
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
Published in:
Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00873-3
By:
- Yap, Zheng Yie;
- Park, Yo Han;
- Wortmann, Saskia B.;
- Gunning, Adam C.;
- Ezer, Shlomit;
- Lee, Sukyeong;
- Duraine, Lita;
- Wilichowski, Ekkehard;
- Wilson, Kate;
- Mayr, Johannes A.;
- Wagner, Matias;
- Li, Hong;
- Kini, Usha;
- Black, Emily Davis;
- Monaghan, Kristin G.;
- Lupski, James R.;
- Ellard, Sian;
- Westphal, Dominik S.;
- Harel, Tamar;
- Yoon, Wan Hee
Publication type:
Article
Brasil e Espanha: Gestão das Políticas Públicas Esportivas.
Published in:
Intercontinental Journal of Sport Management / Revista Intercontinental de Gestão Desportiva, 2020, v. 10, n. 3, p. 1
By:
- Csucsuly Rocha, Cintia;
- Barbosa Matias, Wagner;
- Mascarenhas, Fernando
Publication type:
Article
RADIOGRAFIA DOS CLUBES DE FUTEBOL DO BRASIL: ASPECTOS FINANCEIROS E ADMINISTRATIVOS.
Published in:
Intercontinental Journal of Sport Management / Revista Intercontinental de Gestão Desportiva, 2019, v. 9, n. 3, p. 27
By:
- Barbosa Matias, Wagner;
- Mascarenhas, Fernando
Publication type:
Article
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12620-9
By:
- Wagner, Matias;
- Osborn, Daniel P. S.;
- Gehweiler, Ina;
- Nagel, Maike;
- Ulmer, Ulrike;
- Bakhtiari, Somayeh;
- Amouri, Rim;
- Boostani, Reza;
- Hentati, Faycal;
- Hockley, Maryam M.;
- Hölbling, Benedikt;
- Schwarzmayr, Thomas;
- Karimiani, Ehsan Ghayoor;
- Kernstock, Christoph;
- Maroofian, Reza;
- Müller-Felber, Wolfgang;
- Ozkan, Ege;
- Padilla-Lopez, Sergio;
- Reich, Selina;
- Reichbauer, Jennifer
Publication type:
Article
Mentira: Aspectos Sociais e Neurobiológicos.
Published in:
Psicologia: Teoria e Pesquisa, 2015, v. 31, n. 3, p. 397, doi. 10.1590/0102-37722015032213397401
By:
- de Souza Matias, Danilo Wágner;
- Leime, Jamila Leão;
- Gaudêncio Bezerra, Carmem Walentina Amorim;
- Torro-Alves, Nelson
Publication type:
Article
A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype.
Published in:
Epilepsia (Series 4), 2022, v. 63, n. 4, p. e35, doi. 10.1111/epi.17188
By:
- 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
Publication type:
Article
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
Published in:
PLoS Genetics, 2023, v. 19, n. 6, p. 1, doi. 10.1371/journal.pgen.1010796
By:
- Bakey, Zeineb;
- Cabrera, Oscar A.;
- Hoefele, Julia;
- Antony, Dinu;
- Wu, Kaman;
- Stuck, Michael W.;
- Micha, Dimitra;
- Eguether, Thibaut;
- Smith, Abigail O.;
- van der Wel, Nicole N.;
- Wagner, Matias;
- Strittmatter, Lara;
- Beales, Philip L.;
- Jonassen, Julie A.;
- Thiffault, Isabelle;
- Cadieux-Dion, Maxime;
- Boyes, Laura;
- Sharif, Saba;
- Tüysüz, Beyhan;
- Dunstheimer, Desiree
Publication type:
Article
Clinical heterogeneity within the ALS‐FTD spectrum in a family with a homozygous optineurin mutation.
Published in:
Annals of Clinical & Translational Neurology, 2024, v. 11, n. 6, p. 1579, doi. 10.1002/acn3.52075
By:
- Parvizi, Tandis;
- Klotz, Sigrid;
- Keritam, Omar;
- Caliskan, Haluk;
- Imhof, Sophie;
- König, Theresa;
- Haider, Lukas;
- Traub‐Weidinger, Tatjana;
- Wagner, Matias;
- Brunet, Theresa;
- Brugger, Melanie;
- Zimprich, Alexander;
- Rath, Jakob;
- Stögmann, Elisabeth;
- Gelpi, Ellen;
- Cetin, Hakan
Publication type:
Article
A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy.
Published in:
Annals of Clinical & Translational Neurology, 2021, v. 8, n. 1, p. 278, doi. 10.1002/acn3.51260
By:
- Brugger, Melanie;
- Becker‐Dettling, Fiona;
- Brunet, Theresa;
- Strom, Tim;
- Meitinger, Thomas;
- Lurz, Eberhard;
- Borggraefe, Ingo;
- Wagner, Matias
Publication type:
Article
Biallelic loss‐of‐function variants in RBL2 in siblings with a neurodevelopmental disorder.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 3, p. 390, doi. 10.1002/acn3.50992
By:
- Brunet, Theresa;
- Radivojkov‐Blagojevic, Milena;
- Lichtner, Peter;
- Kraus, Verena;
- Meitinger, Thomas;
- Wagner, Matias
Publication type:
Article
Phenotypic variability of GABRA1‐related epilepsy in monozygotic twins.
Published in:
Annals of Clinical & Translational Neurology, 2019, v. 6, n. 11, p. 2317, doi. 10.1002/acn3.50895
By:
- Krenn, Martin;
- Ernst, Margot;
- Tomschik, Matthias;
- Treven, Marco;
- Wagner, Matias;
- Westphal, Dominik S.;
- Meitinger, Thomas;
- Pataraia, Ekaterina;
- Zimprich, Fritz;
- Aull‐Watschinger, Susanne
Publication type:
Article
Biallelic mutations in PIGP cause developmental and epileptic encephalopathy.
Published in:
Annals of Clinical & Translational Neurology, 2019, v. 6, n. 5, p. 968, doi. 10.1002/acn3.768
By:
- 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
Publication type:
Article
Brain oedema due to disseminated intravascular coagulation in a patient with adult-onset Still's disease–associated hemophagocytic lymphohistiocytosis—a case report.
Published in:
2023
By:
- Lorenz, Georg;
- Schaaf, Christian;
- Moog, Philipp;
- Bachmann, Quirin;
- Popp, Florian;
- Rech, Jürgen;
- Schorr, Johanna;
- Gabl, Carmen;
- Küchle, Claudius;
- Delbridge, Claire;
- Weirich, Gregor G;
- Heemann, Uwe;
- Schneider, Gerhard;
- Lange, Nicole;
- Wagner, Matias;
- Berg-Johnson, Wiebke
Publication type:
Case Study
A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders.
Published in:
2019
By:
- NICULESCU, Luana;
- WAGNER, Matias;
- WESTPHAL, Dominik S.;
- FISCHER, Marcus;
- MIHATSCH, Walter;
- PROTHMANN, Anke;
- RUZICKA, Thomas;
- WOLLENBERG, Andreas;
- WOLFF, Hans;
- SCHMIDT, Heinrich;
- GIEHL, Kathrin A.
Publication type:
Case Study
Free carnitine concentrations and biochemical parameters in medium‐chain acyl‐CoA dehydrogenase deficiency: Genotype–phenotype correlation.
Published in:
Clinical Genetics, 2023, v. 103, n. 6, p. 644, doi. 10.1111/cge.14316
By:
- Weiss, Katharina J.;
- Berger, Ursula;
- Haider, Maliha;
- Wagner, Matias;
- Märtner, E. M. Charlotte;
- Regenauer‐Vandewiele, Stephanie;
- Lotz‐Havla, Amelie;
- Schuhmann, Elfriede;
- Röschinger, Wulf;
- Maier, Esther M.
Publication type:
Article
The constitutional gain‐of‐function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.
Published in:
Clinical Genetics, 2023, v. 103, n. 2, p. 226, doi. 10.1111/cge.14241
By:
- Popp, Bernt;
- Brugger, Melanie;
- Poschmann, Sibylle;
- Bartolomaeus, Tobias;
- Radtke, Maximilian;
- Hentschel, Julia;
- Di Donato, Nataliya;
- Rump, Andreas;
- Gburek‐Augustat, Janina;
- Graf, Elisabeth;
- Wagner, Matias;
- Sorge, Ina;
- Lemke, Johannes R;
- Meitinger, Thomas;
- Abou Jamra, Rami;
- Strehlow, Vincent;
- Brunet, Theresa
Publication type:
Article
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 766, doi. 10.1111/cge.14061
By:
- van der Ven, Amelie T.;
- Johannsen, Jessika;
- Kortüm, Fanny;
- Wagner, Matias;
- Tsiakas, Konstantinos;
- Bierhals, Tatjana;
- Lessel, Davor;
- Herget, Theresia;
- Kloth, Katja;
- Lisfeld, Jasmin;
- Scholz, Tasja;
- Obi, Nadia;
- Wortmann, Saskia;
- Prokisch, Holger;
- Kubisch, Christian;
- Denecke, Jonas;
- Santer, René;
- Hempel, Maja
Publication type:
Article
A C‐terminal BCOR nonsense variant in a male patient expands the phenotypic spectrum of BCOR‐associated syndromic microphthalmia.
Published in:
Clinical Genetics, 2021, v. 100, n. 4, p. 489, doi. 10.1111/cge.14034
By:
- Schwaibold, Eva Maria Christina;
- Brugger, Melanie;
- Wagner, Matias
Publication type:
Article
Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review.
Published in:
Clinical Genetics, 2020, v. 98, n. 5, p. 507, doi. 10.1111/cge.13831
By:
- Kotzaeridou, Urania;
- Young‐Baird, Sara K.;
- Suckow, Vanessa;
- Thornburg, Alexis G.;
- Wagner, Matias;
- Harting, Inga;
- Christ, Stine;
- Strom, Tim;
- Dever, Thomas E.;
- Kalscheuer, Vera M.
Publication type:
Article
Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing.
Published in:
Clinical Genetics, 2019, v. 95, n. 5, p. 582, doi. 10.1111/cge.13536
By:
- Westphal, Dominik S.;
- Leszinski, Gloria S.;
- Rieger‐Fackeldey, Esther;
- Graf, Elisabeth;
- Weirich, Gregor;
- Meitinger, Thomas;
- Ostermayer, Eva;
- Oberhoffer, Renate;
- Wagner, Matias
Publication type:
Article
Clinical Non-penetrance Associated with Biallelic Mutations in the RNase H2 Complex.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 4, p. 706, doi. 10.1007/s10875-023-01438-2
By:
- Crow, Yanick J.;
- Gonzalez-Granado, Luis I;
- Coarelli, Giulia;
- Pierron, Lucie;
- Maystadt, Isabelle;
- Wagner, Matias;
- Zamani, Mina;
- Sadeghian, Saeid;
- David, Clémence;
- Rice, Gillian I
Publication type:
Article
Recessive NUP54 Variants Underlie Early‐Onset Dystonia with Striatal Lesions.
Published in:
Annals of Neurology, 2023, v. 93, n. 2, p. 330, doi. 10.1002/ana.26544
By:
- Harrer, Philip;
- Schalk, Audrey;
- Shimura, Masaru;
- Baer, Sarah;
- Calmels, Nadège;
- Spitz, Marie Aude;
- Warde, Marie‐Thérèse Abi;
- Schaefer, Elise;
- Kittke, Volker M.Sc;
- Dincer, Yasemin;
- Wagner, Matias;
- Dzinovic, Ivana;
- Berutti, Riccardo;
- Sato, Tatsuharu;
- Shirakawa, Toshihiko;
- Okazaki, Yasushi;
- Murayama, Kei;
- Oexle, Konrad;
- Prokisch, Holger;
- Mall, Volker
Publication type:
Article
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Published in:
Annals of Neurology, 2022, v. 91, n. 2, p. 225, doi. 10.1002/ana.26293
By:
- Zech, Michael;
- Kopajtich, Robert;
- Steinbrücker, Katja;
- Bris, Céline;
- Gueguen, Naig;
- Feichtinger, René G.;
- Achleitner, Melanie T.;
- Duzkale, Neslihan;
- Périvier, Maximilien;
- Koch, Johannes;
- Engelhardt, Harald;
- Freisinger, Peter;
- Wagner, Matias;
- Brunet, Theresa;
- Berutti, Riccardo;
- Smirnov, Dmitrii;
- Navaratnarajah, Tharsini;
- Rodenburg, Richard J.T.;
- Pais, Lynn S;
- Austin‐Tse, Christina
Publication type:
Article
Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Published in:
Annals of Neurology, 2020, v. 88, n. 5, p. 867, doi. 10.1002/ana.25879
By:
- Steel, Dora;
- Zech, Michael;
- Zhao, Chen;
- Barwick, Katy E. S.;
- Burke, Derek;
- Demailly, Diane;
- Kumar, Kishore R.;
- Zorzi, Giovanna;
- Nardocci, Nardo;
- Kaiyrzhanov, Rauan;
- Wagner, Matias;
- Iuso, Arcangela;
- Berutti, Riccardo;
- Škorvánek, Matej;
- Necpál, Ján;
- Davis, Ryan;
- Wiethoff, Sarah;
- Mankad, Kshitij;
- Sudhakar, Sniya;
- Ferrini, Arianna
Publication type:
Article
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
Published in:
Journal of Neurology, 2024, v. 271, n. 4, p. 1937, doi. 10.1007/s00415-023-12101-6
By:
- Krenn, Martin;
- Wagner, Matias;
- Zulehner, Gudrun;
- Weng, Rosa;
- Jäger, Fiona;
- Keritam, Omar;
- Sener, Merve;
- Brücke, Christof;
- Milenkovic, Ivan;
- Langer, Agnes;
- Buchinger, Dominic;
- Habersam, Richard;
- Mayerhanser, Katharina;
- Brugger, Melanie;
- Brunet, Theresa;
- Jacob, Maureen;
- Graf, Elisabeth;
- Berutti, Riccardo;
- Cetin, Hakan;
- Hoefele, Julia
Publication type:
Article
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.
Published in:
Journal of Neurology, 2023, v. 270, n. 2, p. 909, doi. 10.1007/s00415-022-11440-0
By:
- Krenn, Martin;
- Sener, Merve;
- Rath, Jakob;
- Zulehner, Gudrun;
- Keritam, Omar;
- Wagner, Matias;
- Laccone, Franco;
- Iglseder, Stephan;
- Marte, Sonja;
- Baumgartner, Manuela;
- Eisenkölbl, Astrid;
- Liechtenstein, Christian;
- Rudnik, Sabine;
- Quasthoff, Stefan;
- Grinzinger, Susanne;
- Spenger, Johannes;
- Wortmann, Saskia B.;
- Löscher, Wolfgang N.;
- Zimprich, Fritz;
- Kellersmann, Anna
Publication type:
Article
Mutations outside the N-terminal part of <italic>RBCK1</italic> may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum.
Published in:
Journal of Neurology, 2018, v. 265, n. 2, p. 394, doi. 10.1007/s00415-017-8710-x
By:
- 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
Publication type:
Article
Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes.
Published in:
Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00499-z
By:
- 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
Publication type:
Article
Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 909, doi. 10.1002/jimd.12109
By:
- Wagner, Matias;
- Berutti, Riccardo;
- Lorenz‐Depiereux, Bettina;
- Graf, Elisabeth;
- Eckstein, Gertrud;
- Mayr, Johannes A.;
- Meitinger, Thomas;
- Ahting, Uwe;
- Prokisch, Holger;
- Strom, Tim M.;
- Wortmann, Saskia B.
Publication type:
Article
The m.9143T>C Variant: Recurrent Infections and Immunodeficiency as an Extension of the Phenotypic Spectrum in MT-ATP6 Mutations?
Published in:
Diseases, 2020, v. 8, n. 2, p. 19, doi. 10.3390/diseases8020019
By:
- Lehmann Urban, Diana;
- Motlagh Scholle, Leila;
- Wagner, Matias;
- Ludolph, Albert C.;
- Rosenbohm, Angela
Publication type:
Article
Targeted Molecular Strategies for Genetic Neurodevelopmental Disorders: Emerging Lessons from Dravet Syndrome.
Published in:
Neuroscientist, 2023, v. 29, n. 6, p. 732, doi. 10.1177/10738584221088244
By:
- Lersch, Robert;
- Jannadi, Rawan;
- Grosse, Leonie;
- Wagner, Matias;
- Schneider, Marius Frederik;
- von Stülpnagel, Celina;
- Heinen, Florian;
- Potschka, Heidrun;
- Borggraefe, Ingo
Publication type:
Article
Cognitive performance and behavior across idiopathic/genetic epilepsies in children and adolescents.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-78218-0
By:
- Moorhouse, Frederik Jan;
- Cornell, Sonia;
- Gerstl, Lucia;
- Tacke, Moritz;
- Roser, Timo;
- Heinen, Florian;
- Bonfert, Michaela;
- von Stülpnagel, Celina;
- Wagner, Matias;
- Borggraefe, Ingo
Publication type:
Article
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 14, p. 2386, doi. 10.1093/hmg/ddac034
By:
- Brunet, Theresa;
- Berutti, Riccardo;
- Dill, Veronika;
- Hecker, Judith S;
- Choukair, Daniela;
- Andres, Stephanie;
- Deschauer, Marcus;
- Diehl-Schmid, Janine;
- Krenn, Martin;
- Eckstein, Gertrud;
- Graf, Elisabeth;
- Gasser, Thomas;
- Strom, Tim M;
- Hoefele, Julia;
- Götze, Katharina S;
- Meitinger, Thomas;
- Wagner, Matias
Publication type:
Article
Clinico‐genetic spectrum of limb‐girdle muscular weakness in Austria: A multicentre cohort study.
Published in:
European Journal of Neurology, 2022, v. 29, n. 6, p. 1815, doi. 10.1111/ene.15306
By:
- Krenn, Martin;
- Tomschik, Matthias;
- Wagner, Matias;
- Zulehner, Gudrun;
- Weng, Rosa;
- Rath, Jakob;
- Klotz, Sigrid;
- Gelpi, Ellen;
- Bsteh, Gabriel;
- Keritam, Omar;
- Colonna, Isabella;
- Paternostro, Chiara;
- Jäger, Fiona;
- Lindeck‐Pozza, Elisabeth;
- Iglseder, Stephan;
- Grinzinger, Susanne;
- Schönfelder, Martina;
- Hohenwarter, Christina;
- Freimüller, Manfred;
- Embacher, Norbert
Publication type:
Article
Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project).
Published in:
Endocrine (1355008X), 2024, v. 85, n. 1, p. 444, doi. 10.1007/s12020-023-03581-7
By:
- Gippert, Sebastian;
- Wagner, Matias;
- Brunet, Theresa;
- Berruti, Riccardo;
- Brugger, Melanie;
- Schwaibold, Eva M. C.;
- Haack, Tobias B.;
- Hoffmann, Georg F.;
- Bettendorf, Markus;
- Choukair, Daniela
Publication type:
Article
Epigenetic Association Analyses and Risk Prediction of RLS.
Published in:
Movement Disorders, 2023, v. 38, n. 8, p. 1410, doi. 10.1002/mds.29440
By:
- Harrer, Philip;
- Mirza‐Schreiber, Nazanin;
- Mandel, Vanessa;
- Roeber, Sigrun;
- Stefani, Ambra;
- Naher, Shamsun;
- Wagner, Matias;
- Gieger, Christian;
- Waldenberger, Melanie;
- Peters, Annette;
- Högl, Birgit;
- Herms, Jochen;
- Schormair, Barbara;
- Zhao, Chen;
- Winkelmann, Juliane;
- Oexle, Konrad
Publication type:
Article
Scoring Algorithm‐Based Genomic Testing in Dystonia: A Prospective Validation Study.
Published in:
Movement Disorders, 2021, v. 36, n. 8, p. 1959, doi. 10.1002/mds.28614
By:
- Zech, Michael;
- Jech, Robert;
- Boesch, Sylvia;
- Škorvánek, Matej;
- Necpál, Ján;
- Švantnerová, Jana;
- Wagner, Matias;
- Sadr‐Nabavi, Ariane;
- Distelmaier, Felix;
- Krenn, Martin;
- Serranová, Tereza;
- Rektorová, Irena;
- Havránková, Petra;
- Mosejová, Alexandra;
- Příhodová, Iva;
- Šarláková, Jana;
- Kulcsarová, Kristína;
- Ulmanová, Olga;
- Bechyně, Karel;
- Ostrozovičová, Miriam
Publication type:
Article
Exomdiagnostik in der Neurologie.
Published in:
Der Nervenarzt, 2019, v. 90, n. 2, p. 131, doi. 10.1007/s00115-018-0667-1
By:
- Zech, Michael;
- Wagner, Matias;
- Schormair, Barbara;
- Oexle, Konrad;
- Winkelmann, Juliane
Publication type:
Article

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