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Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz|May 20, 2020
[Patient registries for rare diseases in Germany: concept paper of the NAMSE strategy group]Holger Storf, Jürgen Stausberg, Gerhard Kindle, et al.
Orphanet Journal of Rare Diseases|June 26, 2019
De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in GermanyKirsten König, Astrid Pechmann, Simone Thiele, et al.
Der Nervenarzt|November 5, 2017
[Spinal muscular atrophy : Time for newborn screening?]K Vill, A Blaschek, U Schara, et al.
Patient Related Outcome Measures|July 2, 2025
Agreement Between Child Self- and Parent Proxy-Reports of Health-Related Quality of Life in Spinal Muscular Atrophy: Preliminary Insights from a Nationwide Patient Registry in GermanyErik Landfeldt, Berenike Leibrock, Justine Hussong, et al.
Neuromuscular Disorders : NMD|March 16, 2013
Proteomic characterization of aggregate components in an intrafamilial variable FHL1-associated myopathySarah Feldkirchner, Maggie C Walter, Stefan Müller, et al.
Journal of Neuroimmunology|May 6, 2011
Recombination mapping of the susceptibility region for sporadic inclusion body myositis within the major histocompatibility complexAdrian P Scott, Nigel G Laing, Frank Mastaglia, et al.
Plos One|July 30, 2013
Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathiesElizabeth Stevens, Silvia Torelli, Lucy Feng, et al.
Neuromuscular Disorders : NMD|March 23, 2010
Reverse protein arrays as novel approach for protein quantification in muscular dystrophiesClaudia Escher, Hanns Lochmüller, Dirk Fischer, et al.
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation|May 16, 2024
Health-related quality of life of adults with spinal muscular atrophy: insights from a nationwide patient registry in GermanyErik Landfeldt, Berenike Leibrock, Justine Hussong, et al.
Molecular Genetics and Metabolism|May 22, 2012
In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletionStefanie Bulst, Elke Holinski-Feder, Brendan Payne, et al.
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