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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 5
2021
Vill, Katharina; Schwartz, Oliver; Blaschek, Astrid; Glaeser, Dieter; Nennstiel, Uta; Wirth, Brunhilde; Burggraf, Siegfried; Roeschinger, Wulf; Becker, Marc; Czibere, Ludwig; Durner, Jürgen; Eggermann, Katja; Olgemoeller, Bernhard; Harms, Erik; Schara, Ulrike; Koelbel, Heike und Mueller-Felber, Wolfgang
(2021):
Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years.
In: Orphanet Journal of Rare Diseases, Bd. 16, Nr. 1, 153
2020
Czibere, Ludwig; Burggraf, Siegfried; Fleige, Tobias; Glueck, Birgit; Keitel, Lisa Marie; Landt, Olfert; Durner, Jürgen; Roeschinger, Wulf; Hohenfellner, Katharina; Wirth, Brunhilde; Müller-Felber, Wolfgang; Vill, Katharina und Becker, Marc
(2020):
High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR.
In: European Journal of Human Genetics, Bd. 28, Nr. 1: S. 23-30
Eggermann, Katja; Glaeser, Dieter; Abicht, Angela und Wirth, Brunhilde
(2020):
Spinal muscular atrophy (5qSMA): best practice of diagnostics, newborn screening and therapy.
In: Medizinische Genetik, Bd. 32, Nr. 3: S. 263-272
2018
Strathmann, Eike A.; Peters, Miriam; Hosseinibarkooie, Seyyedmohsen; Rigo, Frank W.; Bennett, C. Frank; Zaworski, Phillip G.; Chen, Karen S.; Nothnagel, Michael und Wirth, Brunhilde
(2018):
Evaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy mice.
In: PLOS One 13(9), e0203398 [PDF, 3MB]
In: PLOS One 13(9), e0203398 [PDF, 3MB]
Neugebauer, Janine; Heilig, Juliane; Hosseinibarkooie, Seyyedmohsen; Ross, Bryony C.; Mendoza-Ferreira, Natalia; Nolte, Franziska; Peters, Miriam; Hoelker, Irmgard; Hupperich, Kristina; Tschanz, Theresa; Grysko, Vanessa; Zaucke, Frank; Niehoff, Anja und Wirth, Brunhilde
(2018):
Plastin 3 influences bone homeostasis through regulation of osteoclast activity.
In: Human Molecular Genetics, Bd. 27, Nr. 24: S. 4249-4262