Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Ludwig, Czibere"'
Autor:
Katharina Vill, Oliver Schwartz, Astrid Blaschek, Dieter Gläser, Uta Nennstiel, Brunhilde Wirth, Siegfried Burggraf, Wulf Röschinger, Marc Becker, Ludwig Czibere, Jürgen Durner, Katja Eggermann, Bernhard Olgemöller, Erik Harms, Ulrike Schara, Heike Kölbel, Wolfgang Müller-Felber
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Spinal muscular atrophy (SMA) is the most common neurodegenerative disease in childhood. Since motor neuron injury is usually not reversible, early diagnosis and treatment are essential to prevent major disability. Our objective w
Externí odkaz:
https://doaj.org/article/ee690e0ce35a4f75a8b638173e003c07
Autor:
Katharina Hohenfellner, Carsten Bergmann, Tobias Fleige, Nils Janzen, Siegfried Burggraf, Bernd Olgemöller, William A. Gahl, Ludwig Czibere, Sonja Froschauer, Wulf Röschinger, Katharina Vill, Erik Harms, Uta Nennstiel
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)
Background: Newborn screening (NBS) programs for treatable metabolic disorders have been enormously successful, but molecular-based screening has not been broadly implemented so far. Methods: This prospective pilot study was performed within the Germ
Externí odkaz:
https://doaj.org/article/7b81688622b649f0976083200101c04d
Publikováno v:
Dental Materials. 38:e155-e159
Fast and reliable detection of infection is a key to control the SARS-CoV-2 pandemic. Lateral flow antigen tests (LFATs) are inexpensive, easy to use, but have to be verified, as they are rather unspecific and can produce both, false positive and fal
Autor:
Andreas Osterman, Irina Badell, Christopher Dächert, Nikolas Schneider, Anna-Yasemin Kaufmann, Gamze Naz Öztan, Melanie Huber, Patricia M. Späth, Marcel Stern, Hanna Autenrieth, Maximilian Muenchhoff, Alexander Graf, Stefan Krebs, Helmut Blum, Ludwig Czibere, Jürgen Durner, Lars Kaderali, Hanna‑Mari Baldauf, Oliver T. Keppler
Publikováno v:
Medical microbiology and immunology.
During 2022, the COVID-19 pandemic has been dominated by the variant of concern (VoC) Omicron (B.1.1.529) and its rapidly emerging subvariants, including Omicron-BA.1 and -BA.2. Rapid antigen tests (RATs) are part of national testing strategies to id
Autor:
Andreas Osterman, Irina Badell, Elif Basara, Marcel Stern, Fabian Kriesel, Marwa Eletreby, Gamze Naz Öztan, Melanie Huber, Hanna Autenrieth, Ricarda Knabe, Patricia M. Späth, Maximilian Muenchhoff, Alexander Graf, Stefan Krebs, Helmut Blum, Jürgen Durner, Ludwig Czibere, Christopher Dächert, Lars Kaderali, Hanna-Mari Baldauf, Oliver T. Keppler
Publikováno v:
Medical microbiology and immunology. 211(2-3)
Since autumn 2020, rapid antigen tests (RATs) have been implemented in several countries as an important pillar of the national testing strategy to rapidly screen for infections on site during the SARS-CoV-2 pandemic. The current surge in infection r
Autor:
Julia Brenndörfer, André Altmann, Regina Widner-Andrä, Benno Pütz, Darina Czamara, Erik Tilch, Tony Kam-Thong, Peter Weber, Monika Rex-Haffner, Thomas Bettecken, Andrea Bultmann, Bertram Müller-Myhsok, Elisabeth E Binder, Rainer Landgraf, Ludwig Czibere
Publikováno v:
PLoS ONE, Vol 10, Iss 5, p e0128465 (2015)
Genomic copy number variants (CNVs) have been implicated in multiple psychiatric disorders, but not much is known about their influence on anxiety disorders specifically. Using next-generation sequencing (NGS) and two additional array-based genotypin
Externí odkaz:
https://doaj.org/article/c4ac5d6310824b8194e1d021c0bb4634
Autor:
Siegfried Burggraf, Jürgen Durner, Katharina Hohenfellner, Lisa Marie Keitel, Tobias Fleige, Marc Becker, Julia Häring, Erik Harms, Wulf Röschinger, Olfert Landt, Ludwig Czibere, Birgit Glück
Publikováno v:
Eur J Hum Genet
Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder, which causes loss of renal proximal tubular function and progressive loss of glomerular function, finally leading to end stage renal failure at school age. In the cours
Autor:
Jürgen Durner, Ludwig Czibere, Katharina Hohenfellner, Katharina Vill, Marc Becker, Olfert Landt, Siegfried Burggraf, Tobias Fleige, Wolfgang Müller-Felber, Birgit Glück, Wulf Röschinger, Brunhilde Wirth, Lisa Marie Keitel
Publikováno v:
Eur J Hum Genet
Establishing nucleic acid-based assays for genetic newborn screening (NBS) provides the possibility to screen for genetically encoded diseases like spinal muscular atrophy (SMA), best before the onset of symptoms. Such assays should be easily scalabl
Autor:
Brunhilde Wirth, Astrid Blaschek, Jürgen Durner, Katja Eggermann, Erik Harms, Marc Becker, Ludwig Czibere, Wulf Röschinger, Katharina Vill, Uta Nennstiel, Ulrike Schara, Oliver Schwartz, Siegfried Burggraf, Bernhard Olgemöller, Dieter Gläser, Heike Kölbel, Wolfgang Müller-Felber
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Background Spinal muscular atrophy (SMA) is the most common neurodegenerative disease in childhood. Since motor neuron injury is usually not reversible, early diagnosis and treatment are essential to prevent major disability. Our objective was to ass
Autor:
Erik Harms, Jürgen Durner, Wulf Röschinger, Katharina Vill, Astrid Blaschek, Brunhilde Wirth, Bernhard Olgemöller, Katja Eggermann, Oliver Schwartz, Siegfried Burggraf, Heike Kölbel, Ulrike Schara, Uta Nennstiel, Ludwig Czibere, Wolfgang Müller-Felber, Dieter Gläser, Marc Becker
Background: Spinal muscular atrophy (SMA) is the most common neurodegenerative disease in childhood. Since early diagnosis and treatment are essential to prevent major disability, newborn screening (NBS) has come into focus. Methods: The pilot projec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7b001977398d6ccab69f9885ddc1abe7
https://doi.org/10.21203/rs.3.rs-53392/v1
https://doi.org/10.21203/rs.3.rs-53392/v1