Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial
(Abstracted from JAMA Pediatr 2024;178(6):540–547 Spinal muscular atrophy (SMA) is a genetic disorder characterized by progressive muscle weakness and atrophy, with the most severe cases leading to ventilator dependency or death within 2 years. Three new therapies have significantly improved outcomes, especially with early treatment.
Authors
- Ralf A. Husain (ORCID: https://orcid.org/0000-0003-0798-6346)
- Matthias Baumann (ORCID: https://orcid.org/0000-0003-4471-8324)
- Marina Flotats‐Bastardas (ORCID: https://orcid.org/0000-0001-7696-4808)
- Ekkehard Wilichowski
- Maggie Christine Walter (ORCID: https://orcid.org/0000-0002-7611-4827)
- Janbernd Kirschner (ORCID: https://orcid.org/0000-0003-1618-7386)
- Annette Schwerin-Nagel
- Astrid Eisenkölbl (ORCID: https://orcid.org/0000-0001-5176-1262)
- Regina Trollmann (ORCID: https://orcid.org/0000-0001-6031-8537)
- Sebahattin Çırak (ORCID: https://orcid.org/0000-0003-3040-6477)
- Andreas Ziegler (ORCID: https://orcid.org/0000-0001-7574-1231)
- Arpad von Moers
- Gert Wiegand (ORCID: https://orcid.org/0000-0001-6244-2195)
- Wolfgang Müller‐Felber (ORCID: https://orcid.org/0000-0001-9916-5048)
- Johannes Friese
- Tim Hagenacker (ORCID: https://orcid.org/0000-0002-3631-3450)
- Gudrun Schreiber (ORCID: https://orcid.org/0009-0000-2871-0360)
- Manuela Baumgärtner
- Ulrike Schara‐Schmidt (ORCID: https://orcid.org/0000-0001-5833-2751)
- Max Behrens (ORCID: https://orcid.org/0000-0002-4185-4702)
- Sabine Illsinger
- Michelle Pfaffenlehner (ORCID: https://orcid.org/0000-0001-9631-5733)
- Jessika Johannsen (ORCID: https://orcid.org/0000-0002-2095-3891)
- Andreas Hahn (ORCID: https://orcid.org/0000-0002-5157-8369)
- Günther Bernert (ORCID: https://orcid.org/0009-0005-3397-982X)
- Katharina Vill (ORCID: https://orcid.org/0000-0003-1925-7538)
- Hanns Lochmüller (ORCID: https://orcid.org/0000-0003-2324-8001)
- Nadja Kaiser
- Brice Kauffmann (ORCID: https://orcid.org/0000-0002-2932-3255)
- Susanne Goldbach
- Heike Kölbel (ORCID: https://orcid.org/0000-0001-9629-7053)
- Martin Fleger
- Cornelia Köhler
- Claudia Weiß (ORCID: https://orcid.org/0000-0001-6167-5878)
- Kristina Probst-Schendzielorz
- Astrid Pechmann
- Mareike Schimmel (ORCID: https://orcid.org/0000-0003-0611-3922)
- Oliver Schwartz
- Christian Rauscher
- Martin Smitka
- Dieter Gläser
Publication Details
- Journal
- Obstetrical & Gynecological Survey
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1097/01.ogx.0001096632.82255.e5
- Citations
- 2
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.88