Benedikt Schoser

J Neurol 2020 Feb 26;267(2):415-421. Epub 2019 Oct 26.

Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University Munich, Ziemssenstr. 1, 80336, Munich, Germany.

J Neuromuscul Dis 2020 Feb 7. Epub 2020 Feb 7.

Folkhälsan Research Center, Helsinki, Finland.

EBioMedicine 2020 Jan 17;51:102587. Epub 2019 Dec 17.

Wellcome Centre for Cell Biology, University of Edinburgh, Edinburgh, UK. Electronic address:

Pharmacoecon Open 2019 Dec;3(4):479-493

Audentes Therapeutics, 600 California Street, Floor 17, San Francisco, CA, 94108, USA.

J Magn Reson Imaging 2019 Dec 24. Epub 2019 Dec 24.

Department of Diagnostic and Interventional Radiology, School of Medicine, Technical University of Munich, Munich, Germany.

PLoS One 2019 22;14(2):e0212198. Epub 2019 Feb 22.

Friedrich Baur Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, Munich, Germany.

Genet Med 2019 11 16;21(11):2521-2531. Epub 2019 May 16.

CHU Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada.

Acta Neuropathol Commun 2019 10 28;7(1):167. Epub 2019 Oct 28.

APHP, Department of Neurology, Raymond Poincaré Hospital, Garches, France.

J Cell Mol Med 2019 Sep 10;23(9):6499-6503. Epub 2019 Jul 10.

NanoMedSyn, Montpellier, France.

Neurology 2019 09 8;93(10):e995-e1009. Epub 2019 Aug 8.

From the Institute of Molecular, Cell and Systems Biology (S.A.C., D.G.M.), University of Glasgow; Institute of Genetic Medicine (C.J.-M., H.L.) and Institute of Neurosciences (G.G.), Newcastle University, Newcastle upon Tyne, UK; Department of Neurology (K.O., B.G.M.v.E.), Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Neurology (S.W., B.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Munich, Germany; Neuromuscular Reference Centre (F.D., G.B.), Assistance Publique-Hôpitaux de Paris, France; and Tayside Clinical Trials Unit (F.H., R.L.), The University of Dundee, UK.

J Neurol 2019 Aug 18;266(8):2010-2017. Epub 2019 May 18.

Department of Radiation Oncology, Cantonal Hospital, 9007, St. Gallen, Switzerland.

NMR Biomed 2019 08 10;32(8):e4111. Epub 2019 Jun 10.

Department of Diagnostic and Interventional Radiology, Technical University of Munich, Munich, Germany.

Orphanet J Rare Dis 2019 Aug 15;14(1):199. Epub 2019 Aug 15.

Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

Neurol Clin Pract 2019 Aug;9(4):343-353

Ludwig-Maximilians- Universität (BS); Friedrich-Baur-Institut (FM), Munich, Germany; Institut de Myologie (GB), Paris, France; U.O. Neurologia (BF), IRCCS Policlinico San Donato, Milan, Italy; Vall d'Hebron University Hospital (JG), Barcelona, Spain; University of Rochester (CH, JH, RM, CT), Rochester, NY; University Hospital of Bonn (CK), Germany; Medical University of Warsaw (AK-P), Poland; University of Texas (RK) MD Anderson cancer center; Medical University of Warsaw (AL), Poland; Department of Biomedical Sciences for health (GM), University of Milan, Italy; Tampere University (BU), Finland; Myotonic Dystrophy Foundation (PF), San Francisco.

Orphanet J Rare Dis 2019 07 16;14(1):179. Epub 2019 Jul 16.

Department of Pediatric Neurology, University Hospital Essen, Essen, Germany.

Ann Transl Med 2019 Jul;7(13):277

Friedrich-Baur-Institute at the Department of Neurology, University Hospital, Ludwig-Maximilians-University Munich, Munich, Germany.

Ann Transl Med 2019 Jul;7(13):292

Friedrich-Baur-Institute at the Department of Neurology, University Hospital, Ludwig-Maximilians-University Munich, Munich, Germany.

J Neurol 2019 Jun 6;266(6):1358-1366. Epub 2019 Mar 6.

Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Ziemssenstr. 1a, 80336, Munich, Germany.

EBioMedicine 2019 May 25;43:553-561. Epub 2019 Mar 25.

Department of Pediatrics, Erasmus University Medical Center, Rotterdam, Netherlands; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GE Rotterdam, Netherlands. Electronic address:

Neuromuscul Disord 2019 05 20;29(5):392-397. Epub 2019 Feb 20.

Friedrich-Baur-Institute, Dep. of Neurology, Ludwig-Maximilians-University of Munich, Ziemssenstraße 1A, 80336 Munich, Germany. Electronic address:

Neuromuscul Disord 2019 03 17;29(3):167-186. Epub 2018 Dec 17.

Erasmus Medical Center, Pompe Center, Rotterdam, The Netherlands.

J Neurol 2019 Feb 15;266(2):530-532. Epub 2018 Dec 15.

Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Ziemssenstr. 1, 80336, Munich, Germany.

Exp Clin Endocrinol Diabetes 2019 Jan 10;127(1):8-22. Epub 2018 Sep 10.

Department of Medicine IV, University Hospital, LMU Munich, Germany.

J Neuromuscul Dis 2018 ;5(4):451-459

Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Germany.

J Neurol 2019 Jan 14;266(1):133-147. Epub 2018 Nov 14.

Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians University Munich, Ziemssenstr. 1a, 80336, Munich, Germany.

J Neurol 2019 Jan 7. Epub 2019 Jan 7.

Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Ziemssenstr. 1a, 80336, Munich, Germany.

J Neuromuscul Dis 2019 ;6(4):453-465

Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, Munich, Germany.

PLoS One 2018 7;13(6):e0198200. Epub 2018 Jun 7.

Department of Neuroradiology, Klinikum rechts der Isar der Technischen Universität München, Munich, Germany.

Neuromuscul Disord 2018 12 19;28(12):973-985. Epub 2018 Sep 19.

Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria. Electronic address:

EMBO J 2018 12 12;37(23). Epub 2018 Nov 12.

Friedrich Baur Institute at the Department of Neurology, Friedrich Baur Institute, University Hospital, LMU Munich, Munich, Germany

Neurol Clin Pract 2018 Dec;8(6):507-520

Curr Opin Neurol 2018 10;31(5):565-567

Friedrich-Baur-Institute, Neurology, Ziemssenstr. Munich, Germany.

Curr Opin Neurol 2018 10;31(5):599-609

Friedrich-Baur-Institut, Department of Neurology, Ludwig-Maximilians University, Ziemssenstrasse 1a, Munich, Germany.

Neurology 2018 10 5;91(18):e1690-e1694. Epub 2018 Oct 5.

From the Department of Human Genetics (UA.S., AS.S., S.R.), Department of Pediatrics (M.B.), Medical University Innsbruck, Austria; Department of Pediatrics, Kaiser Franz Josef Hospital, Vienna, Austria (S.W.); Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University Munich, Germany (St.W., B.S.); Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität Munich, Germany (UA.S., AS.S.); Institute of Pathology, SALK-LKH and PMU (Paracelsus Medical University) Salzburg, Austria (WH.M, retired); Neuromuscular Research Department, Center for Anatomy and Cell Biology, Medical University of Vienna, Austria (RE.B., WM.S.).

Front Physiol 2018 30;9:1532. Epub 2018 Oct 30.

Friedrich-Baur-Institute at the Department of Neurology, University Hospital, Ludwig-Maximilians-University Munich, Munich, Germany.

Orphanet J Rare Dis 2018 09 5;13(1):155. Epub 2018 Sep 5.

Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

Fortschr Neurol Psychiatr 2018 09 24;86(9):551-558. Epub 2018 Sep 24.

Friedrich-Baur-Institut, Klinikum der Universität München.

Fortschr Neurol Psychiatr 2018 09 24;86(9):575-583. Epub 2018 Sep 24.

Friedrich-Baur-Institut, Neurologische Klinik, Ludwig Maximilian Universität München.

Fortschr Neurol Psychiatr 2018 09 26;86(9):559-565. Epub 2018 Sep 26.

Friedrich-Baur-Institut, Klinikum der Universität München.

Front Neurol 2018 20;9:787. Epub 2018 Sep 20.

Department of Biomedical Sciences for Health University of Milan, Milan, Italy.

J Comput Assist Tomogr 2018 Jul/Aug;42(4):574-579

Diagnostic and Interventional Radiology, and.

Lancet Neurol 2018 08 19;17(8):671-680. Epub 2018 Jun 19.

Department of Neurology, Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, Netherlands.

Neuromuscul Disord 2018 08 17;28(8):625-632. Epub 2018 May 17.

Department of Neurology, University Hospital "Alexandrovska", Medical University, Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.

Fortschr Neurol Psychiatr 2018 07 20;86(7):434-438. Epub 2018 Jul 20.

Institut für Neuropathologie, Universitätsklinikum Erlangen, Erlangen.

Front Neurol 2018 25;9:601. Epub 2018 Jul 25.

Friedrich-Baur-Institute at the Department of Neurology, University Hospital, Ludwig-Maximilians-University Munich, Munich, Germany.

Dev Med Child Neurol 2018 06 30;60(6):536. Epub 2018 Mar 30.

Department of Neurology, Friedrich-Baur-Institut, Ludwig-Maximilians-University Munich, Munich, Germany.

Neuromuscul Disord 2018 05 12;28(5):463-469. Epub 2018 Feb 12.

Friedrich-Baur-Institute, Department of Neurology University Clinics Ludwig-Maximilians-University of Munich, Germany.

Front Neurol 2018 2;9:303. Epub 2018 May 2.

Friedrich-Baur-Institute, Klinikum der Universität München, Munich, Germany.

Nat Commun 2018 05 22;9(1):2009. Epub 2018 May 22.

IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg, 67404, Illkirch, France.

Dtsch Arztebl Int 2018 04;115(17):297

Dtsch Arztebl Int 2018 Feb;115(6):83-90

Department of Neurology, University Hospital Würzburg; DRK Pain Center Mainz; Department of Sleep Medicine and Neuromuscular Disorders, Münster University; University Orthopedic Clinic Erlangen; Department of Neurology, University Hospital Mainz; Friedrich-Baur Institute, Department of Neurology, Ludwig-Maximilians-Universität Munich.

Neuromuscul Disord 2017 12 23;27(12):e1. Epub 2017 Oct 23.

Friedrich-Baur-Institute, Dept. of Neurology, Ludwig-Maximilians-University of Munich, Munich, Germany. Electronic address:

J Neurol 2017 Dec 30;264(12):2472-2480. Epub 2017 Oct 30.

Friedrich-Baur-Institute, Department of Neurology, University Clinics Ludwig-Maximilians-University of Munich, Ziemssenstr. 1a, 80336, Munich, Germany.

BMC Neurol 2017 Nov 22;17(1):202. Epub 2017 Nov 22.

Audentes Therapeutics, 600 California Street, Floor 17, San Francisco, CA, 94104, USA.

Curr Opin Neurol 2017 10;30(5):521-522

Department of Neurology, Friedrich-Baur-Institute, Interdisciplinary Center of Neuromuscular Disorders Klinikum München, Ludwig Maximilians University Munich, Munich, Germany.

J Neurol 2017 Sep 12;264(9):1854-1863. Epub 2017 Jun 12.

Fondazione IRCCS Istituto Neurologico, Via Giovanni Celoria, 11, 20133, Milan, Italy.

Neuromuscul Disord 2017 Sep 1;27(9):856-860. Epub 2017 Jun 1.

Friedrich-Baur-Institute, Dept. of Neurology, Ludwig-Maximilians-University of Munich, Munich, Germany. Electronic address:

J Neurol 2017 09;264(9):1864

Fondazione IRCCS Istituto Neurologico, Via Giovanni Celoria, 11, 20133, Milan, Italy.

Muscle Nerve 2017 08 23;56(2):334-340. Epub 2017 Feb 23.

Friedrich-Baur Institut, Department of Neurology, Ludwig-Maximilian University, Ziemssenstrasse 1a, 80336, Munich, Germany.

Acta Neuropathol 2017 08 13;134(2):241-254. Epub 2017 Apr 13.

German Center for Neurodegenerative Diseases (DZNE) Munich, Feodor-Lynen-Straße 17, 81377, Munich, Germany.

Neuropediatrics 2017 Aug 15;48(4):226-232. Epub 2017 Apr 15.

Friedrich-Baur-Institut, Neurologische Klinik, Klinikum der Universität München, München, Germany.

Neuromuscul Disord 2017 May 14;27(5):473-476. Epub 2017 Feb 14.

Department of Neurology, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania. Electronic address:

J Neurol 2017 Apr 2;264(4):621-630. Epub 2016 Jul 2.

Department of Clinical and Experimental Medicine, Reference Center for Rare Neuromuscular Disorders, University of Messina, Messina, Italy.

Neuromuscul Disord 2017 Apr 21;27(4):338-351. Epub 2016 Dec 21.

Wellcome Trust Centre for Cell Biology, University of Edinburgh, Edinburgh, UK. Electronic address:

Am J Hum Genet 2017 Mar 9;100(3):523-536. Epub 2017 Feb 9.

Friedrich-Baur-Institute, Department of Neurology, Ludwig Maximilians University Munich, 80336 Munich, Germany. Electronic address:

Orphanet J Rare Dis 2017 03 16;12(1):52. Epub 2017 Mar 16.

Department of Sleep Medicine and Neuromuscular Disorders, University of Münster, Münster, Germany.

Histochem Cell Biol 2016 Nov 8;146(5):569-584. Epub 2016 Jul 8.

Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444a, PO Box 23, Belgrade, 11010, Serbia.

Eur J Hum Genet 2016 10 25;24(10):1467-72. Epub 2016 May 25.

Department of Human Genetics, Julius-Maximilians-University, Würzburg, Germany.

Curr Opin Neurol 2016 10;29(5):602-5

Department of Neurology, Friedrich-Baur-Institute, Interdisciplinary Center of Neuromuscular Disorders, Klinikum München, Ludwig Maximilian University, Munich, Germany.

Mol Genet Metab 2016 09 19;119(1-2):115-23. Epub 2016 May 19.

Sanofi Genzyme, Cambridge, MA, USA. Electronic address:

Neurol Sci 2016 Aug 18;37(8):1357-60. Epub 2016 May 18.

Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Ziemssenstraße 1a, 80336, Munich, Germany.

Neurology 2016 Jul 11;87(3):295-8. Epub 2016 May 11.

From Newborn Screening and Metabolic Diagnostics (Z.L., P.N.C.), University Medical Center Hamburg-Eppendorf, Hamburg; Friedrich-Baur Institute, Department of Neurology (S.W., B.S.-W., M.C.W., P.R., T.K., B.S.), and Department of Neuropediatrics, Dr. Von Haunersche Kinderklinik (W.M.-F.), Ludwig Maximilian University of Munich, Germany; The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust (T.A.W.), Oswestry; Institute of Genetic Medicine (T.E., M.G., V.S.), Newcastle University; Salford Royal NHS Foundation Trust (M.R.), Salford; UCL Institute of Neurology and National Hospital (R.Q.), Queen Square, London; Department of Neurology (D.H.-J.), Oxford University Hospital, UK; and Department of Neurology (S.Z., M.D.), Halle University, Germany.

Muscle Nerve 2016 May 3;53(5):717-25. Epub 2016 Mar 3.

Stanford University, Stanford, California, USA.

PLoS One 2015 8;10(7):e0132099. Epub 2015 Jul 8.

Friedrich-Alexander University Erlangen-Nürnberg, University-Clinic Erlangen, Department of Gynaecology and Obstetrics, Laboratory for Molecular Medicine, Erlangen, Universitaetsstrasse, Erlangen, Germany.

J Neurol 2016 Apr 17;263(4):743-50. Epub 2016 Feb 17.

Klinik und Poliklinik für Neurologie, Universität Halle-Wittenberg, Halle, Germany.

Circ Cardiovasc Genet 2016 Apr 1;9(2):130-5. Epub 2016 Mar 1.

From the Emory Genetics Laboratory (Y.X.), Division of Medical Genetics (W.R.W.), Department of Human Genetics, Emory University, Atlanta, GA; Friedrich-Baur Institut, Neurologische Klinik, Klinikum der Universität, München, Germany (B.S.); Department of Human Genetics, UCLA School of Medicine, CA (A.R.R., S.F.N.); Instituto de Genetica Medica, Hospital Italiano, Montevideo, Uruguay (R.Q., A.V.); Institute of Human Genetics, Medical University of Graz (V.R., C.B., C.W.); and Department for Mathematics and Scientific Computing, Karl-Franzens-University Graz, Graz, Austria (G.S.-T.).

Acta Neuropathol Commun 2016 04 27;4(1):45. Epub 2016 Apr 27.

Department of Neuropathology, Charité - Universitätsmedizin Berlin, Charité Campus Mitte, Charitéplatz 1, D-10117, Berlin, Germany.

J Neuropathol Exp Neurol 2016 Feb;75(2):102-10

Acta Myol 2015 Dec;34(2-3):133-8

Friedrich-Baur-Institute, Department of Neurology, Klinikum der Universität München, Germany.

Acta Myol 2015 Dec;34(2-3):141-3

Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center and Dept of Pediatrics, Rotterdam, the Netherlands;

Neuromuscul Disord 2015 Sep 10;25(9):719-24. Epub 2015 Jul 10.

Department of Neurology, Klinikum Munich, Friedrich-Baur-Institute, Germany. Electronic address:

Neuromuscul Disord 2015 Aug 21;25(8):674-8. Epub 2015 Apr 21.

Centre for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC, Rotterdam, The Netherlands. Electronic address:

Neuromuscul Disord 2015 Jul 16;25(7):577-84. Epub 2015 Apr 16.

Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, Munich, Germany.

Eur J Hum Genet 2015 Jun 5;23(6):808-16. Epub 2014 Nov 5.

Department of Human Genetics, Julius-Maximilians-University, Würzburg, Germany.

Proc Natl Acad Sci U S A 2015 Jun 15;112(26):8041-5. Epub 2015 Jun 15.

Division of Neurology, Cincinnati Children's Hospital and University of Cincinnati Medical Center, Cincinnati, OH 45219;

Biochem Biophys Res Commun 2015 May 9;461(2):217-23. Epub 2015 Apr 9.

Department of Internal Medicine II, University of Ulm, 89081 Ulm, Germany. Electronic address:

JAMA Neurol 2015 Jan;72(1):106-11

Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, England2Institute for Ageing and Health, National Institute for Health Research Biomedical Research Centre for Ageing, Newcastle University, Newcastle upon Tyne, Englan.

J Neuromuscul Dis 2015;2(s1):S8

Friedrich-Baur-Institute, Department of Neurology, Ludwig Maximilians University Munich, Munich, Germany.

J Neuromuscul Dis 2015;2(s1):S72-S73

Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, Netherlands.

JIMD Rep 2014 26;17:53-61. Epub 2014 Aug 26.

Villa Metabolica, Centre for Pediatric and Adolescent Medicine, Langenbeckstr. 2, 55131, Mainz, Germany.

Cochrane Database Syst Rev 2014 Nov 12(11):CD003458. Epub 2014 Nov 12.

Neurogenetics 2014 Aug 14;15(3):151-6. Epub 2014 Jun 14.

Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians University of Munich, Ziemssenstr. 1 A, 80336, Munich, Germany,

J Clin Neurophysiol 2014 Aug;31(4):362-6

*Friedrich-Baur-Institute, Department of Neurology, and †Department of Neuropediatrics, Ludwig-Maximilians University of Munich, Munich, Germany.

Mol Genet Metab 2014 Jun 30;112(2):148-53. Epub 2014 Mar 30.

Department of Neurology, Martin-Luther-University Halle-Wittenberg, Ernst-Grube-Str. 40, 06120 Halle (Saale), Germany. Electronic address:

Neurology 2014 Jun 2;82(22):1976-83. Epub 2014 May 2.

From the Institute for Physiology, Department of Physiological Genomics (C.G., Y.Z., J.M., S.K.), and Friedrich-Baur-Institute (B. Schoser), Ludwig-Maximilians University, Munich; Department of Neurology (B. Schalke), University of Regensburg; Department of Neurology (A.M.), University of Tübingen, Germany; and Laboratory of Molecular Biology of the Cell (V.R., L.S.), University of Lyon, France. A.M. is currently affiliated with the Department of Neurology, University Hospital Erlangen, Germany.

Acta Neuropathol Commun 2014 Jan 2;2. Epub 2014 Jan 2.

Laboratory of Muscle Stem Cells and Gene Regulation, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

Ann Neurol 2013 Dec;74(6):914-9

Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.

Orphanet J Rare Dis 2013 Oct 12;8:160. Epub 2013 Oct 12.

Friedrich-Baur Institut, Neurologische Klinik, Klinikum der Universität München, München, Germany.

BMC Med Genet 2013 Sep 16;14:92. Epub 2013 Sep 16.

Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University Munich, Ziemssenstrasse 1, D-80336 Munich, Germany.

Am J Hum Genet 2013 Jul 3;93(1):181-90. Epub 2013 Jul 3.

Institute of Human Genetics, University Hospital Cologne, 50931 Cologne, Germany.