Benedikt Schoser

Benedikt Schoser

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Benedikt Schoser

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A role for cannabinoids in the treatment of myotonia? Report of compassionate use in a small cohort of patients.

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.

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http://dx.doi.org/10.1007/s00415-019-09593-6DOI Listing
February 2020

A Systematic Review of the Health Economics of Pompe Disease.

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

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

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http://dx.doi.org/10.1007/s41669-019-0142-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6861413PMC
December 2019

Water T Mapping in Fatty Infiltrated Thigh Muscles of Patients With Neuromuscular Diseases Using a T -Prepared 3D Turbo Spin Echo With SPAIR.

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.

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http://dx.doi.org/10.1002/jmri.27032DOI Listing
December 2019

CRISPR-cas gene-editing as plausible treatment of neuromuscular and nucleotide-repeat-expansion diseases: A systematic review.

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

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

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0212198PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6386526PMC
November 2019

Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort.

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.

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http://dx.doi.org/10.1212/WNL.0000000000008056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6745735PMC
September 2019

Comparison of recent pivotal recommendations for the diagnosis and treatment of late-onset Pompe disease using diagnostic nodes-the Pompe disease burden scale.

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

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

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http://dx.doi.org/10.1007/s00415-019-09373-2DOI Listing
August 2019

Decreased water T in fatty infiltrated skeletal muscles of patients with neuromuscular diseases.

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

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

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http://dx.doi.org/10.1002/nbm.4111DOI Listing
August 2019

Consensus-based care recommendations for adults with myotonic dystrophy type 2.

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.

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http://dx.doi.org/10.1212/CPJ.0000000000000645DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6745739PMC
August 2019

Assessing metabolic profiles in human myoblasts from patients with late-onset Pompe disease.

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

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

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http://dx.doi.org/10.21037/atm.2019.04.18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6642930PMC
July 2019

Pompe disease: what are we missing?

Authors:
Benedikt Schoser

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

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

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http://dx.doi.org/10.21037/atm.2019.05.29DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6642932PMC
July 2019

Evaluating the diagnostic utility of new line immunoassays for myositis antibodies in clinical practice: a retrospective study.

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.

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http://link.springer.com/10.1007/s00415-019-09266-4
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http://dx.doi.org/10.1007/s00415-019-09266-4DOI Listing
June 2019

A genetic modifier of symptom onset in Pompe disease.

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:

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http://dx.doi.org/10.1016/j.ebiom.2019.03.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562017PMC
May 2019

Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family.

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:

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http://dx.doi.org/10.1016/j.nmd.2019.02.007DOI Listing
May 2019

Cannabis use in myotonic dystrophy patients in Germany and USA: a pilot survey.

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.

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http://link.springer.com/10.1007/s00415-018-9159-2
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http://dx.doi.org/10.1007/s00415-018-9159-2DOI Listing
February 2019

How to Interpret Abnormal Findings of Spirometry and Manometry in Myotonic Dystrophies?

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

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

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http://www.medra.org/servlet/aliasResolver?alias=iospress&am
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http://dx.doi.org/10.3233/JND-180331DOI Listing
January 2019

Safety and efficacy of short- and long-term inspiratory muscle training in late-onset Pompe disease (LOPD): a pilot study.

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.

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http://link.springer.com/10.1007/s00415-018-9112-4
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http://dx.doi.org/10.1007/s00415-018-9112-4DOI Listing
January 2019

A systematic review on the definition of rhabdomyolysis.

J Neurol 2019 Jan 7. Epub 2019 Jan 7.

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

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http://link.springer.com/10.1007/s00415-019-09185-4
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http://dx.doi.org/10.1007/s00415-019-09185-4DOI Listing
January 2019

Pattern of myogenesis and vascular repair in early and advanced lesions of juvenile dermatomyositis.

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

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

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http://dx.doi.org/10.1016/j.nmd.2018.09.002DOI Listing
December 2018

Diagnostics and treatment of neuromusuclar disorders - a role model for rare diseases?

Authors:
Benedikt Schoser

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

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

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http://dx.doi.org/10.1097/WCO.0000000000000588DOI Listing
October 2018

Towards clinical outcome measures in myotonic dystrophy type 2: a systematic review.

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

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

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http://dx.doi.org/10.1097/WCO.0000000000000591DOI Listing
October 2018

Evidence of mild founder mutations causing nemaline myopathy 10 in Germany and Austria.

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.).

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006428DOI Listing
October 2018

Nuclear Envelope Transmembrane Proteins in Myotonic Dystrophy Type 1.

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.

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http://dx.doi.org/10.3389/fphys.2018.01532DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218431PMC
October 2018

[Myasthenia gravis: current status of antibody diagnostics and aspects on refractory myasthenia gravis].

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

Friedrich-Baur-Institut, Klinikum der Universität München.

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http://dx.doi.org/10.1055/a-0624-9397DOI Listing
September 2018

[Dystrophic and non-dystrophic myotonias].

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

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

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http://www.thieme-connect.de/DOI/DOI?10.1055/a-0635-8285
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http://dx.doi.org/10.1055/a-0635-8285DOI Listing
September 2018

[Anti-IgLON5 syndrome - what is our current understanding?]

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

Friedrich-Baur-Institut, Klinikum der Universität München.

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http://www.thieme-connect.de/DOI/DOI?10.1055/a-0665-4593
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http://dx.doi.org/10.1055/a-0665-4593DOI Listing
September 2018

Editorial: Beyond Borders: Myotonic Dystrophies-A European Perception.

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

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

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http://dx.doi.org/10.3389/fneur.2018.00787DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6158325PMC
September 2018

Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation.

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.

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http://dx.doi.org/10.1016/j.nmd.2018.05.005DOI Listing
August 2018

[Inclusion Body Myopathy, Paget's Disease, and Fronto-temporal Dementia: a VCP-related Multi-systemic Proteinopathy].

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

Institut für Neuropathologie, Universitätsklinikum Erlangen, Erlangen.

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http://dx.doi.org/10.1055/s-0044-101033DOI Listing
July 2018

Myotonic Dystrophy-A Progeroid Disease?

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.

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https://www.frontiersin.org/article/10.3389/fneur.2018.00601
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http://dx.doi.org/10.3389/fneur.2018.00601DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6095001PMC
July 2018

Novel Pompe disease phenotype: a treatment-related modified phenotype neglecting the brain.

Authors:
Benedikt Schoser

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.

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http://doi.wiley.com/10.1111/dmcn.13762
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http://dx.doi.org/10.1111/dmcn.13762DOI Listing
June 2018

222nd ENMC International Workshop:: Myotonic dystrophy, developing a European consortium for care and therapy, Naarden, The Netherlands, 1-2 July 2016.

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.

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http://dx.doi.org/10.1016/j.nmd.2018.02.003DOI Listing
May 2018

Core Clinical Phenotypes in Myotonic Dystrophies.

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

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

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http://dx.doi.org/10.3389/fneur.2018.00303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5941986PMC
May 2018

Polyneuropathies.

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.

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http://dx.doi.org/10.3238/arztebl.2018.083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832891PMC
February 2018

Corrigendum to 'Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient' [Neuromuscular Disorders 27 (2017) 856-860].

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:

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http://dx.doi.org/10.1016/j.nmd.2017.10.001DOI Listing
December 2017

Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2.

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.

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http://dx.doi.org/10.1007/s00415-017-8653-2DOI Listing
December 2017

The humanistic burden of Pompe disease: are there still unmet needs? A systematic review.

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

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

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http://dx.doi.org/10.1186/s12883-017-0983-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5700516PMC
November 2017

Editorial: a viewpoint on European standards for neuromuscular training, qualification, and certification.

Authors:
Benedikt Schoser

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.

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http://dx.doi.org/10.1097/WCO.0000000000000482DOI Listing
October 2017

Lambert-Eaton myasthenic syndrome (LEMS): a rare autoimmune presynaptic disorder often associated with cancer.

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

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

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http://dx.doi.org/10.1007/s00415-017-8541-9DOI Listing
September 2017

Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient.

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:

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http://dx.doi.org/10.1016/j.nmd.2017.05.017DOI Listing
September 2017

Erratum to: Lambert-Eaton myasthenic syndrome (LEMS): a rare autoimmune presynaptic disorder often associated with cancer.

J Neurol 2017 09;264(9):1864

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

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http://dx.doi.org/10.1007/s00415-017-8556-2DOI Listing
September 2017

Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.

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.

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http://dx.doi.org/10.1002/mus.25485DOI Listing
August 2017

Inherited and Acquired Muscle Weakness: A Moving Target for Diagnostic Muscle Biopsy.

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

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

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http://dx.doi.org/10.1055/s-0037-1601859DOI Listing
August 2017

Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency.

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:

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http://dx.doi.org/10.1016/j.nmd.2017.02.005DOI Listing
May 2017

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

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.

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http://dx.doi.org/10.1007/s00415-016-8219-8DOI Listing
April 2017

Differential expression and localization of Ankrd2 isoforms in human skeletal and cardiac muscles.

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.

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http://dx.doi.org/10.1007/s00418-016-1465-0DOI Listing
November 2016

Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype.

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

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

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http://dx.doi.org/10.1038/ejhg.2016.41DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027686PMC
October 2016

Diagnostic muscle biopsy: is it still needed on the way to a liquid muscle pathology?

Authors:
Benedikt Schoser

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.

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http://dx.doi.org/10.1097/WCO.0000000000000366DOI Listing
October 2016

Long-term whole-body vibration training in two late-onset Pompe disease patients.

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.

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http://dx.doi.org/10.1007/s10072-016-2612-zDOI Listing
August 2016

Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.

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.

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http://dx.doi.org/10.1212/WNL.0000000000002758DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4955273PMC
July 2016

Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy.

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

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

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http://dx.doi.org/10.1007/s00415-016-8036-0DOI Listing
April 2016

Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death.

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.).

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http://dx.doi.org/10.1161/CIRCGENETICS.115.001193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4838535PMC
April 2016

Differential roles of hypoxia and innate immunity in juvenile and adult dermatomyositis.

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.

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http://dx.doi.org/10.1186/s40478-016-0308-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4847347PMC
April 2016

Muscle histology changes after short term vibration training in healthy controls.

Authors:
Benedikt Schoser

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

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4859078PMC
December 2015

Minutes of the European POmpe Consortium (EPOC) Meeting March 27 to 28, 2015, Munich, 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;

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4859079PMC
December 2015

208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26-28 September 2014.

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:

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http://dx.doi.org/10.1016/j.nmd.2015.04.006DOI Listing
August 2015

50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation.

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.

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http://dx.doi.org/10.1016/j.nmd.2015.04.005DOI Listing
July 2015

Reduction of toxic RNAs in myotonic dystrophies type 1 and type 2 by the RNA helicase p68/DDX5.

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;

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http://dx.doi.org/10.1073/pnas.1422273112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4491770PMC
June 2015

Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.

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.

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http://dx.doi.org/10.1001/jamaneurol.2014.1753DOI Listing
January 2015

A Troublesome Debate: When to Start Treatment in Adult Pompe Patients?

Authors:
Benedikt Schoser

J Neuromuscul Dis 2015;2(s1):S8

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

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January 2015

Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V).

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

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http://dx.doi.org/10.1002/14651858.CD003458.pub5DOI Listing
November 2014

Novel recessive myotilin mutation causes severe myofibrillar myopathy.

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,

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http://link.springer.com/content/pdf/10.1007/s10048-014-0410
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http://dx.doi.org/10.1007/s10048-014-0410-4DOI Listing
August 2014

Are evoked potentials in patients with adult-onset pompe disease indicative of clinically relevant central nervous system involvement?

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.

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http://dx.doi.org/10.1097/WNP.0000000000000084DOI Listing
August 2014

Pregnancy and delivery in women with Pompe disease.

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:

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http://ac.els-cdn.com/S1096719214001152/1-s2.0-S109671921400
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http://linkinghub.elsevier.com/retrieve/pii/S109671921400115
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http://dx.doi.org/10.1016/j.ymgme.2014.03.010DOI Listing
June 2014

Anti-agrin autoantibodies in myasthenia gravis.

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.

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http://dx.doi.org/10.1212/WNL.0000000000000478DOI Listing
June 2014

The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients.

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.

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http://dx.doi.org/10.1186/2051-5960-2-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3892035PMC
January 2014

The clinical relevance of outcomes used in late-onset Pompe disease: can we do better?

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

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

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http://dx.doi.org/10.1186/1750-1172-8-160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4015278PMC
October 2013

Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes.

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.

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http://dx.doi.org/10.1186/1471-2350-14-92DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3848428PMC
September 2013