In his research, Benedikt Schoser performs multidisciplinary study on Genetics and Phenotype. His Internal medicine study frequently draws parallels with other fields, such as Creatine kinase. He integrates Gene and Myotonic dystrophy in his research. His work blends Myotonic dystrophy and Genetics studies together. His study connects Enzyme replacement therapy and Disease. Benedikt Schoser combines Muscular dystrophy and Myopathy in his research. He conducts interdisciplinary study in the fields of Myopathy and Muscular dystrophy through his works. As part of his studies on Endocrinology, he often connects relevant areas like Skeletal muscle. His Skeletal muscle study frequently intersects with other fields, such as Endocrinology.
Benedikt Schoser combines Internal medicine and Pediatrics in his research. In his works, Benedikt Schoser undertakes multidisciplinary study on Pediatrics and Internal medicine. He incorporates Genetics and Anatomy in his studies. While working in this field, he studies both Anatomy and Genetics. Benedikt Schoser undertakes multidisciplinary investigations into Gene and Muscular dystrophy in his work. His work blends Disease and Surgery studies together. Benedikt Schoser incorporates Surgery and Disease in his studies. His work in Pathology is not limited to one particular discipline; it also encompasses Myopathy. Myopathy connects with themes related to Pathology in his study.
This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.
Non-ATG–initiated translation directed by microsatellite expansions
Tao Zu;Brian Gibbens;Noelle S. Doty;Mário Gomes-Pereira.
Proceedings of the National Academy of Sciences of the United States of America (2011)
Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study
James F Howard;Kimiaki Utsugisawa;Michael Benatar;Hiroyuki Murai.
Lancet Neurology (2017)
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
Klaus Gempel;Haluk Topaloglu;Beril Talim;Peter Schneiderat.
Anti-LRP4 autoantibodies in AChR- and MuSK-antibody-negative myasthenia gravis.
Alexandra Pevzner;Benedikt Schoser;Katja Peters;Nicoleta-Carmen Cosma.
Journal of Neurology (2012)
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy
Charlotte Fugier;Arnaud F Klein;Caroline Hammer;Stéphane Vassilopoulos.
Nature Medicine (2011)
Transplantation of genetically corrected human iPSC-derived progenitors in mice with limb-girdle muscular dystrophy
Francesco Saverio Tedesco;Francesco Saverio Tedesco;Mattia F. M. Gerli;Laura Perani;Sara Benedetti.
Science Translational Medicine (2012)
Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial.
S. Strothotte;N. Strigl-Pill;B. Grunert;C. Kornblum.
Journal of Neurology (2010)
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.
Wolfgang Müller-Felber;Rita Horvath;Klaus Gempel;Teodor Podskarbi.
Neuromuscular Disorders (2007)
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease
Regina C. Betz;Benedikt G. H. Schoser;Dagmar Kasper;Kenneth Ricker.
Nature Genetics (2001)
Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review
Antonio Toscano;Benedikt Schoser.
Journal of Neurology (2013)
If you think any of the details on this page are incorrect, let us know.
We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below: