Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Siegfried Burggraf"'
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::251d058571d5239a4db4c0b9adcdccba
https://doi.org/10.1016/j.dental.2022.03.005
https://doi.org/10.1016/j.dental.2022.03.005
Autor:
Wolfgang Müller-Felber, Astrid Blaschek, Oliver Schwartz, Dieter Gläser, Uta Nennstiel, Inken Brockow, Brunhilde Wirth, Siegfried Burggraf, Wulf Röschinger, Marc Becker, Jürgen Durner, Katja Eggermann, Heike Kölbel, Christine Müller, Iris Hannibal, Bernd Olgemöller, Ulrike Schara, Arpad von Moers, Regina Trollmann, Jessika Johannssen, Andreas Ziegler, Sebahattin Cirak, Andreas Hahn, Maja von der Hagen, Claudia Weiss, Gudrun Schreiber, Marina Flotats-Bastardas, Hans Hartmann, Sabine Illsinger, Astrid Pechmann, Veronka Horber, Jan Kirschner, Cornelia Köhler, Benedikt Winter, Johannes Friese, Katharina Vill
Now that targeted therapies for spinal muscular atrophy are available, attempts are being made worldwide to include screening for spinal muscular atrophy in general newborn screening. In Germany, after pilot projects from 2018–2021, it was included
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2076f3c7700af5e297061ae3cdeaea57
https://www.ncbi.nlm.nih.gov/pubmed/36463459
https://www.ncbi.nlm.nih.gov/pubmed/36463459
Autor:
Brunhilde Wirth, Iris Hannibal, Christine Müller, Uta Nennstiel, Katja Eggermann, Jürgen Durner, Katharina Vill, Wulf Röschinger, Astrid Blaschek, Oliver Schwartz, Siegfried Burggraf, Dieter Gläser, Wolfgang Müller-Felber, Heike Kölbel, Ulrike Schara, Marc Becker, Bernd Olgemöller
Publikováno v:
Journal of Neuromuscular Diseases. 7:109-117
Although the value of newborn screening (NBS) for early detection and treatment opportunity in SMA patients is generally accepted, there is still an ongoing discussion about the best strategy in children with 4 and more copies of the SMN2 gene. This
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8be98139a50ce83548de9327e5b37078
https://doi.org/10.3233/jnd-200475
https://doi.org/10.3233/jnd-200475
Autor:
Oliver Schwartz, Heike Kölbel, Astrid Blaschek, Dieter Gläser, Siegfried Burggraf, Wulf Röschinger, Ulrike Schara, Wolfgang Müller-Felber, Katharina Vill
Background: Prompt treatment after genetic NBS for SMA substantially improves outcome in infantile SMA. However, deficiency of SMN-protein can cause damage of motor neurons even prior to birth. Objective: To describe the neurological status at the ti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44ac5b8cd7abaa457ab11d147bda00be
https://www.ncbi.nlm.nih.gov/pubmed/35431259
https://www.ncbi.nlm.nih.gov/pubmed/35431259
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::219f4bc6791a01517212b3e9f8866da8
https://doi.org/10.1038/s41431-019-0521-3
https://doi.org/10.1038/s41431-019-0521-3
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::334586944be359bba309abf0d7f180b2
https://doi.org/10.1038/s41431-019-0476-4
https://doi.org/10.1038/s41431-019-0476-4
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c744c4d6b074ec80663c26d5a219b3a
http://europepmc.org/articles/PMC8011100
http://europepmc.org/articles/PMC8011100
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