Search Results - "Schorling, D"
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Impaired secretion of platelet granules in patients with Duchenne muscular dystrophy – results of a prospective diagnostic study
Published in Neuromuscular disorders : NMD (01-01-2021)“…•Secretion of platelet granules was impaired in patients with Duchenne muscular dystrophy.•Platelet aggregation was reduced after stimulation with ADP…”
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Severe congenital myopathy with myasthenic features and lethal neurodegeneration – A new ALG14-related phenotype?
Published in Neuromuscular disorders : NMD (01-10-2016)Get full text
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Somatropin treatment of spinal muscular atrophy: A placebo-controlled, double-blind crossover pilot study
Published in Neuromuscular disorders : NMD (01-02-2014)“…Abstract In preclinical studies growth hormone and its primary mediator IGF-1 have shown potential to increase muscle mass and strength. A single patient with…”
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VP.20 Cathepsin D as biomarker in CSF of nusinersen-treated patients with spinal muscular atrophy
Published in Neuromuscular disorders : NMD (01-10-2022)Get full text
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EP.69Disorders of coagulation in Duchenne muscular dystrophy? Results of a registry-based online survey
Published in Neuromuscular disorders : NMD (01-10-2019)Get full text
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P.77 - Severe congenital myopathy with myasthenic features and lethal neurodegeneration – A new ALG14-related phenotype?
Published in Neuromuscular disorders : NMD (01-10-2016)Get full text
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Lag1p and Lac1p are essential for the Acyl-CoA-dependent ceramide synthase reaction in Saccharomyces cerevisae
Published in Molecular biology of the cell (01-11-2001)“…Lag1p and Lac1p are two homologous transmembrane proteins of the endoplasmic reticulum in Saccharomyces cerevisiae. Homologous genes have been found in a wide…”
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