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1

2010 Marigold therapeutic strategies for myotonic dystrophy

Karla Blonsky, Darren Monckton, Bé Wieringa, Benedikt Schoser, John W. Day, Baziel van Engelen

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 126 KB

english, 2012

2

Muscle pathology in 57 patients with myotonic dystrophy type 2

Benedikt G.H. Schoser, Christiane Schneider-Gold, Wolfram Kress, Hans-Hilmar Goebel, Peter Reilich, Manuela C. Koch, Dieter E. Pongratz, Klaus V. Toyka, Hanns Lochmüller, Kenneth Ricker

Journal:

Year:

2004

Language:

english

File:

PDF, 508 KB

english, 2004

3

Cell death and apoptosis-related proteins in muscle biopsies of sporadic amyotrophic lateral sclerosis and polyneuropathy

Benedikt G.H. Schoser, Sonja Wehling, Dieter Blottner

Journal:

Year:

2001

Language:

english

File:

PDF, 1.71 MB

english, 2001

4

A large german kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene

Benedikt G. H. Schoser, J. Michael Schröder, Timo Grimm, Damien Sternberg, Wolfram Kress

Journal:

Year:

2007

Language:

english

File:

PDF, 364 KB

english, 2007

5

Perceived pain and temporomandibular disorders in neuromuscular diseases

Michael J. Fischer, Kathrin Riedlinger, Benedikt Schoser, Michael Bernateck

Journal:

Year:

2009

Language:

english

File:

PDF, 129 KB

english, 2009

6

Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and miyoshi type of muscular dystrophy

Joachim Schessl, Wolfram Kress, Benedikt Schoser

Journal:

Year:

2012

Language:

english

File:

PDF, 928 KB

english, 2012

7

Patient Registries and Trial Readiness in Myotonic Dystrophy – TREAT-NMD/Marigold International Workshop Report

Rachel Thompson, Benedikt Schoser, Darren G. Monckton, Karla Blonsky, Hanns Lochmüller

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 162 KB

english, 2009

8

Muscle MRI findings in limb girdle muscular dystrophy type 2L

Anna Sarkozy, Marcus Deschauer, Robert-Yves Carlier, Bertold Schrank, Jürgen Seeger, Maggie C. Walter, Benedikt Schoser, Peter Reilich, France Leturq, Aleksandar Radunovic, Anthony Behin, Pascal Lafor

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 884 KB

english, 2012

9

Alglucosidase alfa: 5 years of experience in late-onset Pompe disease

Benedikt Schoser

Journal:

BMC Musculoskeletal Disorders

Year:

2013

Language:

english

File:

PDF, 73 KB

english, 2013

10

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

Lachmann, Robin, Schoser, Benedikt

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 377 KB

english, 2013

11

Novel recessive myotilin mutation causes severe myofibrillar myopathy

Schessl, Joachim, Bach, Elisa, Rost, Simone, Feldkirchner, Sarah, Kubny, Christiana, Müller, Stefan, Hanisch, Franz-Georg, Kress, Wolfram, Schoser, Benedikt

Journal:

Year:

2014

Language:

english

File:

PDF, 5.65 MB

english, 2014

12

The impact of raised intracranial pressure on cerebral venous hemodynamics: a prospective venous transcranial Doppler ultrasonography study

Schoser, Benedikt G. H., Riemenschneider, Nils, Hansen, H. Christian

Journal:

Journal of Neurosurgery

Year:

1999

Language:

english

File:

PDF, 699 KB

english, 1999

13

Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature

Schoser, Benedikt, Fong, Edward, Geberhiwot, Tarekegn, Hughes, Derralynn, Kissel, John T., Madathil, Shyam C., Orlikowski, David, Polkey, Michael I., Roberts, Mark, Tiddens, Harm A. W. M., Young, Pete

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 449 KB

english, 2017

14

Diagnostic muscle biopsy

Schoser, Benedikt

Journal:

Current Opinion in Neurology

Year:

2016

Language:

english

File:

PDF, 328 KB

english, 2016

15

Polyneuropathies

Sommer, Claudia, Geber, Christian, Young, Peter, Forst, Raimund, Birklein, Frank, Schoser, Benedikt

Journal:

Deutsches "{A}rzteblatt international

Year:

2018

Language:

english

File:

PDF, 430 KB

english, 2018

16

Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: a phase 1, open-label, multicenter, multinational, ascending dose study

Pena, Loren D.M., Barohn, Richard J., Byrne, Barry J., Desnuelle, Claude, Goker-Alpan, Ozlem, Ladha, Shafeeq, Laforêt, Pascal, Mengel, Karl Eugen, Pestronk, Alan, Pouget, Jean, Schoser, Benedikt, Stra

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 1.71 MB

english, 2018

17

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

Babačić, Haris, Mehta, Aditi, Merkel, Olivia, Schoser, Benedikt, Lewin, Alfred S.

Journal:

Year:

2019

Language:

english

File:

PDF, 1.99 MB

english, 2019

18

Interrelation between Sarcopenia and the Number of Motor Neurons in Patients with Parkinsonian Syndromes

Krenovsky, Jan-Peter, BÃ¶tzel, Kai, Ceballos-Baumann, Andres, Fietzek, UrbanÂ M., Schoser, Benedikt, Maetzler, Walter, Ferrari, Uta, Drey, Michael

Journal:

Year:

2020

Language:

english

File:

PDF, 89 KB

english, 2020

19

Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3

Benedikt Schoser, Dieter Gläser, Josef Müller-Höcker

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 217 KB

english, 2008

20

Toward deconstructing the phenotype of late-onset Pompe disease

Angela Schüller, Stephan Wenninger, Nicola Strigl-Pill, Benedikt Schoser

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2012

Language:

english

File:

PDF, 246 KB

english, 2012

21

Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease

Christian Kubisch, Benedikt G. H. Schoser, Monika v. Düring, Regina C. Betz, Hans-Hilmar Goebel, Susanne Zahn, Antje Ehrbrecht, Jan Aasly, Anja Schroers, Nikola Popovic, Hanns Lochmüller, J. Michael S

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 702 KB

english, 2003

22

Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H

Benedikt G. H. Schoser, Patrick Frosk, Andrew G. Engel, Ursula Klutzny, Hanns Lochmüller, Klaus Wrogemann

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 426 KB

english, 2005

23

Therapeutic Approaches in Glycogen Storage Disease Type II/Pompe Disease

Benedikt Schoser, Victoria Hill, Nina Raben

Journal:

Neurotherapeutics

Year:

2008

Language:

english

File:

PDF, 103 KB

english, 2008

24

Subacute onset of oculogyric crises and generalized dystonia following intranasal administration of heroin

Benedikt G.H. Schoser, Christoph Groden

Journal:

Year:

1999

Language:

english

File:

PDF, 204 KB

english, 1999

25

Interleukin-12 is detectable in sera of patients with multiple sclerosis — association with chronic progressive disease course?

Christoph Heesen, Frank Sieverding, Benedikt Gustav Heinrich Schoser, Bijan Hadji, Klaus Kunze

Journal:

European Journal of Neurology

Year:

1999

File:

PDF, 662 KB

1999

26

Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy

Peter Reilich, Nicolai Schramm, Benedikt Schoser, Peter Schneiderat, Nicola Strigl-Pill, Josef Müller-Höcker, Wolfram Kress, Andreas Ferbert, Sabine Rudnik-Schöneborn, Johannes Noth, Hanns Lochmüller,

Journal:

Journal of Neurology

Year:

2010

Language:

english

File:

PDF, 578 KB

english, 2010

27

A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A)

Peter Reilich, Sabine Krause, Nicolai Schramm, Ursula Klutzny, Stefanie Bulst, Barbara Zehetmayer, Peter Schneiderat, Maggie C. Walter, Benedikt Schoser, Hanns Lochmüller

Journal:

Journal of Neurology

Year:

2011

Language:

english

File:

PDF, 977 KB

english, 2011

28

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

Alexandra Pevzner, Benedikt Schoser, Katja Peters, Nicoleta-Carmen Cosma, Andromachi Karakatsani, Berthold Schalke, Arthur Melms, Stephan Kröger

Journal:

Journal of Neurology

Year:

2012

Language:

english

File:

PDF, 359 KB

english, 2012

29

Mutations of theLMNAgene can mimic autosomal dominant proximal spinal muscular atrophy

Sabine Rudnik-Schöneborn, Elke Botzenhart, Thomas Eggermann, Jan Senderek, Benedikt G. H. Schoser, Rolf Schröder, Manfred Wehnert, Brunhilde Wirth, Klaus Zerres

Journal:

Year:

2007

Language:

english

File:

PDF, 284 KB

english, 2007

30

Myofibrillar Myopathies: A Clinical and Myopathological Guide

Rolf Schröder, Benedikt Schoser

Journal:

Brain Pathology

Year:

2009

Language:

english

File:

PDF, 1.45 MB

english, 2009

31

10.1038/90050

Betz, Regina C., Schoser, Benedikt G. H., Kasper, Dagmar, Ricker, Kenneth, Ramírez, Alfredo, Stein, Valentin, Torbergsen, Torberg, Lee, Young-Ae, Nöthen, Markus M., Wienker, Thomas F., Malin, Jean-Pie

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 1.03 MB

english, 2001

32

Immunolocalization of tenascin-C in human type II fiber atrophy

Benedikt G. H. Schoser, Andreas Faissner, Hans H. Goebel

Journal:

Journal of Molecular Neuroscience

Year:

1999

Language:

english

File:

PDF, 221 KB

english, 1999

33

Muscle Biopsy as a Diagnostic Tool in Pompe Disease

Benedikt Schoser

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 72 KB

english, 2011

34

Absence of a differentiation defect in muscle satellite cells from DM2 patients

Richard Pelletier, Frederic Hamel, Daniel Beaulieu, Lysanne Patry, Caroline Haineault, Mark Tarnopolsky, Benedikt Schoser, Jack Puymirat

Journal:

Neurobiology of Disease

Year:

2009

Language:

english

File:

PDF, 669 KB

english, 2009

35

Myotonic Dystrophies Type 1 and 2: A Summary on Current Aspects

Ulrike Schara, Benedikt G.H. Schoser

Journal:

Seminars in Pediatric Neurology

Year:

2006

Language:

english

File:

PDF, 432 KB

english, 2006

36

Reducing Body Myopathy and Other FHL1-Related Muscular Disorders

Joachim Schessl, Sarah Feldkirchner, Christiana Kubny, Benedikt Schoser

Journal:

Seminars in Pediatric Neurology

Year:

2011

Language:

english

File:

PDF, 787 KB

english, 2011

37

Ectopic expression of cyclin D3 corrects differentiation of DM1 myoblasts through activation of RNA CUG-binding protein, CUGBP1

Elizabeth Salisbury, Keiko Sakai, Benedikt Schoser, Claudia Huichalaf, Christiane Schneider-Gold, Heather Nguyen, Gou-Li Wang, Jeffrey H. Albrecht, Lubov T. Timchenko

Journal:

Experimental Cell Research

Year:

2008

Language:

english

File:

PDF, 1.30 MB

english, 2008

38

Foreword

Wolfgang Müller-Felber, Benedikt Schoser

Journal:

Clinical Therapeutics

Year:

2010

Language:

english

File:

PDF, 429 KB

english, 2010

39

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

Christian Windpassinger, Benedikt Schoser, Volker Straub, Sonja Hochmeister, Abdul Noor, Birgit Lohberger, Natalie Farra, Erwin Petek, Thomas Schwarzbraun, Lisa Ofner, Wolfgang N. Löscher, Klaus Wagne

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 1.29 MB

english, 2008

40

RNA Foci, CUGBP1, and ZNF9 Are the Primary Targets of the Mutant CUG and CCUG Repeats Expanded in Myotonic Dystrophies Type 1 and Type 2

Karlie Jones, Bingwen Jin, Polina Iakova, Claudia Huichalaf, Partha Sarkar, Christiane Schneider-Gold, Benedikt Schoser, Giovanni Meola, Ann-Bin Shyu, Nikolai Timchenko, Lubov Timchenko

Journal:

The American Journal of Pathology

Year:

2011

Language:

english

File:

PDF, 2.23 MB

english, 2011

41

Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy

Juliane S. Müller, Henriett Piko, Benedikt G.H. Schoser, Beate Schlotter-Weigel, Peter Reilich, Stefanie Gürster, Christine Born, Veronika Karcagi, Dieter Pongratz, Hanns Lochmüller, Maggie C. Walter

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 399 KB

english, 2006

42

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, Yoon Shin, Dieter Pongratz, Maggie C. Walter, Martina Baethmann, Beate Schlotter-Weigel, Hanns Lochmüller, Benedikt Schoser

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 122 KB

english, 2007

43

Immune-mediated rippling muscle disease with myasthenia gravis: A report of seven patients with long-term follow-up in two

Benedikt Schoser, Saiju Jacob, David Hilton-Jones, Wolfgang Müller-Felber, Christian Kubisch, Detlef Claus, Hans H. Goebel, Giuseppe Vita, Angela Vincent, Antonio Toscano, Peter Van den Bergh

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 527 KB

english, 2009

44

The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy

Peter Reilich, Benedikt Schoser, Nicolai Schramm, Sabine Krause, Joachim Schessl, Wolfram Kress, Josef Müller-Höcker, Maggie C. Walter, Hanns Lochmuller

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 490 KB

english, 2010

45

Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children

Johannes A. Mayr, Franz A. Zimmermann, Rita Horváth, Hans-Christian Schneider, Benedikt Schoser, Elke Holinski-Feder, Birgit Czermin, Peter Freisinger, Wolfgang Sperl

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 833 KB

english, 2011

46

Accuracy of botulinum toxin injections in myofascial pain. Response to Gobel et al. Pain 2006;125:82–8

Peter Reilich, Benedikt G.H. Schoser

Journal:

Year:

2007

Language:

english

File:

PDF, 56 KB

english, 2007

47

Unclassified polysaccharidosis of the heart and skeletal muscle in siblings

Benedikt Schoser, Claudio Bruno, Hans-Christian Schneider, Yoon S. Shin, Teodor Podskarbi, Lev Goldfarb, Wolfgang Müller-Felber, Josef Müller-Höcker

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 1.74 MB

english, 2008

48

Corrigendum to “Unclassified polysaccharidosis of the heart and skeletal muscle in siblings” [Mol. Genet. Metabol. 95 (2008) 52–58]

Benedikt Schoser, Claudio Bruno, Hans-Christian Schneider, Yoon S. Shin, Teodor Podskarbi, Lev Goldfarb, Wolfgang Müller-Felber, Josef Müller-Höcker

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 103 KB

english, 2009

49

The impact of antibodies in late-onset Pompe disease: A case series and literature review

Trusha T. Patel, Suhrad G. Banugaria, Laura E. Case, Stephan Wenninger, Benedikt Schoser, Priya S. Kishnani

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 822 KB

english, 2012

50

Partial loss of NADPH-diaphorase/nitric oxide synthase-complex in amyotrophic lateral sclerosis and human type-II myofiber atrophy

Benedikt G.H Schoser, Gabriele Lück, Dieter Blottner

Journal:

Neuroscience Letters

Year:

1997

Language:

english

File:

PDF, 549 KB

english, 1997