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81
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18321
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16829
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884

Overview

Benedikt Schoser is affiliated with Ludwig-Maximilians-Universität München in Germany. Their work primarily spans the fields of Medicine and Biochemistry, Genetics and Molecular Biology, with significant contributions in subfields such as Physiology, Molecular Biology, Neurology, Rheumatology, and Cellular and Molecular Neuroscience.

The research topics covered by Schoser include:

  • Lysosomal Storage Disorders Research
  • Glycogen Storage Diseases and Myoclonus
  • Genetic Neurodegenerative Diseases
  • Child Nutrition and Feeding Issues
  • Muscle Physiology and Disorders
  • Mitochondrial Function and Pathology
  • Neurogenetic and Muscular Disorders Research

Schoser has co-authored frequently with several researchers, including:

  • Jordi Díaz-Manera
  • Priya S. Kishnani
  • António Toscano
  • Tahseen Mozaffar
  • Mazen M. Dimachkie

The scientist has published extensively in venues focused on neuromuscular and neurological disorders. Prominent publication venues include:

  • Neuromuscular Disorders
  • Molecular Genetics and Metabolism
  • Journal of Neurology
  • Neurology
  • Journal of Neuromuscular Diseases

Among recent scholarly papers, notable works by or involving Schoser include:

  • Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial, 2021, The Lancet Neurology
  • Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial, 2021, The Lancet Neurology
  • "Neurological manifestations of COVID-19" - guideline of the German society of neurology, 2020, Neurological Research and Practice
  • Guideline for the management of myasthenic syndromes, 2023, Therapeutic Advances in Neurological Disorders
  • New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy, 2020, Brain

Best Publications

  • Non-ATG–initiated translation directed by microsatellite expansions

    Tao Zu;Brian Gibbens;Noelle S. Doty;Mário Gomes-Pereira

  • 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

  • Anti-LRP4 autoantibodies in AChR- and MuSK-antibody-negative myasthenia gravis.

    Alexandra Pevzner;Benedikt Schoser;Katja Peters;Nicoleta-Carmen Cosma

  • 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

  • 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

  • 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

  • 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

  • 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

  • Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease

    Regina C. Betz;Benedikt G. H. Schoser;Dagmar Kasper;Kenneth Ricker

  • Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis

    Benedikt Schoser;Andrew Stewart;Steve Kanters;Alaa Hamed

  • Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review

    Antonio Toscano;Benedikt Schoser

  • Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

    Jan Senderek;Jan Senderek;Juliane S. Müller;Marina Dusl;Tim M. Strom

  • Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 - A Prospective Observational Study.

    Maggie C. Walter;Stephan Wenninger;Simone Thiele;Julia Stauber

  • Anti-agrin autoantibodies in myasthenia gravis

    Christiane Gasperi;Arthur Melms;Benedikt Schoser;Yina Zhang

  • Pathological consequences of VCP mutations on human striated muscle

    Christian U. Hübbers;Christoph S. Clemen;Kristina Kesper;Annett Böddrich

  • Myofibrillar myopathies: a clinical and myopathological guide.

    Rolf Schröder;Benedikt Schoser

  • Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

    Johanna Nilsson;Benedikt Schoser;Pascal Laforet;Ognian Kalev

  • Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscle

    Nikolai Klymiuk;Andreas Blutke;Alexander Graf;Sabine Krause

  • An X-Linked Myopathy with Postural Muscle Atrophy and Generalized Hypertrophy, Termed XMPMA, Is Caused by Mutations in FHL1

    Christian Windpassinger;Christian Windpassinger;Benedikt Schoser;Volker Straub;Sonja Hochmeister

  • 36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy

    Caroline Regnery;Cornelia Kornblum;Frank Hanisch;Stefan Vielhaber

Frequent Co-Authors

Hanns Lochmüller
Hanns Lochmüller University of Freiburg
Volker Straub
Volker Straub Newcastle University
Priya S. Kishnani
Priya S. Kishnani Duke University
Rita Horvath
Rita Horvath University of Cambridge
Barry J. Byrne
Barry J. Byrne University of Florida
Richard J. Barohn
Richard J. Barohn University of Missouri
Thomas Klopstock
Thomas Klopstock Ludwig-Maximilians-Universität München
Alan Pestronk
Alan Pestronk Washington University in St. Louis
Darren G. Monckton
Darren G. Monckton University of Glasgow

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