B. Schoser

B. Schoser, W. Müller-Felber, A. Wirsching, 2014, Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society.

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

B. Eymard, B. Schoser, R. Mantegazza, 2017, Journal of Neurology.

Quantitative Muscle MRI in Patients with Neuromuscular Diseases—Association of Muscle Proton Density Fat Fraction with Semi-Quantitative Grading of Fatty Infiltration and Muscle Strength at the Thigh Region

C. Zimmer, T. Baum, B. Schoser, 2021, Diagnostics.

Decreased water T2 in fatty infiltrated skeletal muscles of patients with neuromuscular diseases

C. Zimmer, E. Rummeny, B. Schoser, 2019, NMR in biomedicine.

T2-Weighted Dixon Turbo Spin Echo for Accelerated Simultaneous Grading of Whole-Body Skeletal Muscle Fat Infiltration and Edema in Patients With Neuromuscular Diseases

C. Zimmer, E. Rummeny, H. Kooijman, 2018, Journal of computer assisted tomography.

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

B. Schoser, J. Kirschke, D. Karampinos, 2016, Muscle & nerve.

The impact of interrupting enzyme replacement therapy in late-onset Pompe disease

B. Schoser, K. Gutschmidt, F. Montagnese, 2021, Journal of Neurology.

The effect of methocarbamol and mexiletine on murine muscle spindle function

B. Schoser, S. Kröger, Bridgette Watkins, 2022, Muscle & nerve.

Coenzyme Q10 deficiency and isolated myopathy

S. Dimauro, K. Gempel, Hanns Lochmüller, 2006, Neurology.

Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant

Robert W. Taylor, B. Schoser, G. Falkous, 2020, Neuromuscular Disorders.

Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration

D. Goldstein, A. Allen, T. Strom, 2018, The EMBO journal.

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene

D. Turnbull, V. Hans, H. Lochmüller, 2011, Journal of Neurology.

Patient‐specific protein aggregates in myofibrillar myopathies: Laser microdissection and differential proteomics for identification of plaque components

J. Schessl, B. Schoser, S. Müller, 2012, Proteomics.

Outcome and effect of pregnancy in myotonic dystrophy type 2

K. Zerres, S. Rudnik-Schöneborn, W. Kress, 2006, Neurology.

Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

B. Schlotter-Weigel, K. Gempel, H. Lochmüller, 2007, Neuromuscular Disorders.

An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease

K. Claeys, W. Stenzel, C. Mawrin, 2020, Neuropathology and applied neurobiology.

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO

A. Seller, P. Chinnery, R. Horvath, 2010, Neurology.

IGF-I/IGFBP3/ALS deficiency in sarcopenia: low GHBP suggests GH resistance in a subgroup of geriatric patients.

M. Bidlingmaier, M. Drey, R. Schmidmaier, 2020, The Journal of clinical endocrinology and metabolism.

Muscle MRI findings in limb girdle muscular dystrophy type 2L

K. Bushby, Hanns Lochmüller, R. Carlier, 2012, Neuromuscular Disorders.

Regional variation of thigh muscle fat infiltration in patients with neuromuscular diseases compared to healthy controls.

C. Zimmer, T. Baum, B. Schoser, 2021, Quantitative imaging in medicine and surgery.

Sarcopenia - Endocrinological and Neurological Aspects.

T. Gudermann, B. Thorand, M. Drey, 2018, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

Human Prototypic Disease Models for Geriatric Sarcopenia Diabetes and diabetic sarcopenia

T. Gudermann, B. Thorand, M. Drey, 2018 .

Matrix metalloproteinases MMP-2, MMP-7 and MMP-9 in denervated human muscle.

B. Schoser, D. Blottner, 1999, Neuroreport.

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

B. Rautenstrauss, W. Kress, B. Schoser, 2013, BMC Medical Genetics.

Mitochondrial changes in skeletal muscle in amyotrophic lateral sclerosis and other neurogenic atrophies.

A. Krasnianski, B. Schoser, M. Krasnianski, 2005, Brain : a journal of neurology.

Sudden cardiac death in myotonic dystrophy type 2

C. Hengstenberg, W. Kress, B. Schoser, 2004, Neurology.

Water T2 Mapping in Fatty Infiltrated Thigh Muscles of Patients With Neuromuscular Diseases Using a T2‐Prepared 3D Turbo Spin Echo With SPAIR

C. Zimmer, E. Rummeny, B. Schoser, 2019, Journal of magnetic resonance imaging : JMRI.

Myotonic dystrophies type 1 and 2: a summary on current aspects.

B. Schoser, U. Schara, 2006, Seminars in pediatric neurology.

Matrix metalloproteinases in inflammatory myopathies: enhanced immunoreactivity near atrophic myofibers

B. Schoser, D. Blottner, H. Stuerenburg, 2002, Acta neurologica Scandinavica.

TMBIM5 loss of function alters mitochondrial matrix ion homeostasis and causes a skeletal myopathy

K. Frauenknecht, M. Schmeisser, J. Parys, 2022, Life Science Alliance.

Muscle pathology in 57 patients with myotonic dystrophy type 2

H. Goebel, K. Toyka, Hanns Lochmüller, 2004, Muscle & nerve.

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

B. Schoser, D. Blottner, S. Wehling, 2001, Muscle & nerve.

Immunolocalization of tenascin-C in human type II fiber atrophy

H. Goebel, B. Schoser, A. Faissner, 1999, Journal of Molecular Neuroscience.

Tenascin in denervated human muscle

H. Goebel, B. Schoser, 1996, Journal of the Neurological Sciences.

Unclassified polysaccharidosis of the heart and skeletal muscle in siblings.

C. Bruno, B. Schoser, L. Goldfarb, 2008, Molecular genetics and metabolism.

Myofibrillar Myopathies: A Clinical and Myopathological Guide

B. Schoser, R. Schröder, 2009, Brain pathology.

BNIP3 is involved in muscle fiber atrophy in Late-Onset Pompe Disease patients.

B. Schoser, E. Rivas, C. Paradas, 2022, The American journal of pathology.

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

E. Malfatti, N. Romero, I. Nishino, 2019, Acta Neuropathologica Communications.

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, ascend

B. Byrne, A. Pestronk, P. van Damme, 2019, Neuromuscular Disorders.

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, ascen

B. Byrne, A. Pestronk, R. Barohn, 2019 .

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10‐year experience

M. Roberts, C. Angelini, R. Lachmann, 2017, European journal of neurology.

Therapeutic approaches in glycogen storage disease type II/pompe disease

V. Hill, N. Raben, B. Schoser, 2008, Neurotherapeutics.

Adult‐onset glycogen storage disease type 2: clinico‐pathological phenotype revisited

K. Gempel, Hanns Lochmüller, R. Horvath, 2007, Neuropathology and applied neurobiology.

Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study.

A. Pestronk, C. Bjartmar, R. Carlier, 2016, Molecular genetics and metabolism.

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

B. Schoser, A. Toscano, 2013, Journal of Neurology.

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

F. Glocker, B. Schoser, F. Hanisch, 2012, Journal of Inherited Metabolic Disease.

Mannose 6‐phosphonate labelling: A key for processing the therapeutic enzyme in Pompe disease

B. Schoser, M. Maynadier, Marcel Garcia, 2019, Journal of cellular and molecular medicine.

Scientific Aspects and Clinical Signs of Muscle Pain

M. Vorgerd, D. Pongratz, B. Schoser, 2004 .

[Lipid storage myopathies. A clinical and pathobiochemical challenge].

B. Schoser, T. Klopstock, T. Skuban, 2010, Der Nervenarzt.

Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H

Hanns Lochmüller, A. Engel, B. Schoser, 2005, Annals of neurology.

CD95‐mediated apoptosis and DNA fragmentation in MS

B. Schoser, C. Heesen, J. Gbadamosi, 2000, Acta neurologica Scandinavica.

Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial

T. Heskes, P. Donnan, J. Deux, 2018, The Lancet Neurology.

Congenital myopathy and epidermolysis bullosa due to PLEC variant

H. Goebel, B. Schoser, S. Krause, 2021, Neuromuscular Disorders.

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

M. Tarnopolsky, Y. Chien, J. Charrow, 2021, The Lancet Neurology.

Differential expression of nitric oxide synthases (NOS 1‐3) in human skeletal muscle following exercise countermeasure during 12 weeks of bed rest

H. Gunga, K. Kirsch, P. Tesch, 2004, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1

H. Knoop, G. Bassez, H. Lochmüller, 2021, Neurology: Genetics.

248th ENMC International Workshop: Myotonic dystrophies: Molecular approaches for clinical purposes, framing a European molecular research network, Hoofddorp, the Netherlands, 11–13 October 2019

B. Engelen, B. Schoser, D. G. Wansink, 2020, Neuromuscular Disorders.

Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy

K. Pelin, D. Figarella-Branger, V. Lehtokari, 2011, Neuromuscular Disorders.

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

M. Polkey, H. Tiddens, D. Orlikowski, 2017, Orphanet Journal of Rare Diseases.

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

B. Schoser, M. Walter, P. Reilich, 2019, Neuromuscular Disorders.

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Jacqueline Palace, K. Bushby, F. Muntoni, 2012, Journal of Neurology.

Immunohistochemistry on a panel of Emery–Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology

E. C. Schirmer, Michael I. Robson, B. Schoser, 2017, Neuromuscular Disorders.

Dilative cardiomyopathy displaying double trouble etiology: Myocarditis and Mcleod syndrome?

B. Schoser, F. Montagnese, U. Grabmaier, 2020, Clinical Neurology and Neurosurgery.

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

B. Byrne, A. Pestronk, M. Tarnopolsky, 2021, The Lancet Neurology.

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

B. Schoser, S. Wenninger, P. Kishnani, 2012, Molecular genetics and metabolism.

Nociceptive pain in adult patients with 5q-spinal muscular atrophy type 3: a cross-sectional clinical study

B. Schoser, S. Wenninger, Corinna Wirner, 2022, Journal of Neurology.

STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa

Y. Chien, B. Schoser, K. Gutschmidt, 2021, Journal of Neurology.

Utility of maximum inspiratory and expiratory pressures as a screening method for respiratory insufficiency in slowly progressive neuromuscular disorders

B. Schoser, M. Walter, K. Stahl, 2020, Neuromuscular Disorders.

Immunolocalization of leukemia inhibitory factor in normal and denervated human muscle

B. Schoser, K. Kunze, S. Storjohann, 1998, Neuroreport.

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

B. Schoser, D. Blottner, G. Lück, 1997, Neuroscience Letters.

[Educational and Professional Qualifications of Adults With Myotonic Dystrophies - A Misleading Perception by the Myopathic Face?].

B. Schoser, F. Montagnese, K. Stahl, 2016, Fortschritte der Neurologie-Psychiatrie.

Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease

B. Byrne, P. van Damme, R. Barohn, 2022, Neurology.

Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

Sruthi S. Nair, K. Claeys, E. Malfatti, 2022, Journal of Neurology, Neurosurgery, and Psychiatry.

Brain imaging and neuropsychology in late-onset dementia due to a novel mutation (R93C) of valosin-containing protein.

A. Danek, L. Frölich, Hanns Lochmüller, 2007, Clinical neuropathology.

Therapeutic approaches in Glycogen Storage Disease type II ( GSDII ) / Pompe disease

V. Hill, N. Raben, B. Schoser, 2010 .

Novel recessive myotilin mutation causes severe myofibrillar myopathy

J. Schessl, W. Kress, B. Schoser, 2014, neurogenetics.

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

B. Schoser, F. Montagnese, K. Stahl, 2018, Journal of neuromuscular diseases.

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

F. Glocker, C. Wessig, B. Schoser, 2009, Journal of Neurology.

Myotonic Dystrophies Type 1 and 2

B. Schoser, 2013 .

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

H. Goebel, W. Stenzel, B. Schoser, 2016, Acta Neuropathologica Communications.

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

Robert W. Taylor, D. Turnbull, P. Chinnery, 2015, JAMA neurology.

Ocular myositis: diagnostic assessment, differential diagnoses, and therapy of a rare muscle disease – five new cases and review

B. Schoser, 2007, Clinical ophthalmology.

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

R. Moxley, G. Meola, G. Bassez, 2019, Neurology. Clinical practice.

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

W. Kress, B. Schoser, S. Mondello, 2017, Journal of Neurology.

Myotonic dystrophy type 2 (DM2) and related disorders Report of the 180th ENMC Workshop including guidelines on diagnostics and management 3–5 December 2010, Naarden, The Netherlands

G. Meola, G. Bassez, W. Kress, 2011, Neuromuscular Disorders.

How much expansion to be diseased?

T. Ashizawa, B. Schoser, 2009, Neurology.

211th ENMC International Workshop: Development of diagnostic criteria and management strategies for McArdle Disease and related rare glycogenolytic disorders to improve standards of care. 17–19 April 2015, Naarden, The Netherlands

P. Laforêt, J. Vissing, B. Schoser, 2017, Neuromuscular Disorders.

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

B. Schoser, J. Müller‐Höcker, D. Gläser, 2008, American journal of medical genetics. Part A.

Pain in adult patients with Pompe disease: a cross-sectional survey.

B. Schoser, N. Karabul, M. Kruijshaar, 2013, Molecular genetics and metabolism.

Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients

B. Schoser, F. Montagnese, D. Gläser, 2020, Journal of Neurology.

Pompe disease: what are we missing?

B. Schoser, 2019, Annals of translational medicine.

Small fiber involvement is independent from clinical pain in late-onset Pompe disease

K. Claeys, W. Löscher, A. Rosenbohm, 2022, Orphanet Journal of Rare Diseases.

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

G. Valle, S. Kojic, G. Faulkner, 2016, Histochemistry and Cell Biology.

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

M. Nöthen, T. Wienker, Young-Ae Lee, 2001, Nature Genetics.

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

B. Schoser, A. Melms, S. Kröger, 2012, Journal of Neurology.

Four and a Half LIM Protein 1C (FHL1C): A Binding Partner for Voltage-Gated Potassium Channel Kv1.5

B. Schoser, C. Windpassinger, K. Wagner, 2011, PloS one.

Exploration of mitochondrial defects in sarcopenic hip fracture patients

D. Teupser, M. Bidlingmaier, M. Drey, 2022, Heliyon.

Uptake of moss‐derived human recombinant GAA in Gaa −/− mice

A. Busch, B. Schoser, P. Meinke, 2021, JIMD reports.

Moss-Derived Human Recombinant GAA Provides an Optimized Enzyme Uptake in Differentiated Human Muscle Cells of Pompe Disease

A. Busch, B. Schoser, P. Meinke, 2020, International journal of molecular sciences.

A zebrafish model for FHL1-opathy reveals loss-of-function effects of human FHL1 mutations

W. Rottbauer, E. Kayvanpour, H. Katus, 2018, Neuromuscular Disorders.

Long-Term Endurance Exercise in Humans Stimulates Cell Fusion of Myoblasts along with Fusogenic Endogenous Retroviral Genes In Vivo

M. Beckmann, W. Bloch, M. Ruebner, 2015, PloS one.

Age effects on interleukin-6 and interleukin-1beta responses to endurance exercise in patients with neuromuscular diseases.

B. Schoser, H. Joerg Stuerenburg, R. Jung, 1999, Archives of gerontology and geriatrics.

Cerebral hyperperfusion injury after percutaneous transluminal angioplasty of extracranial arteries

Bernd Eckert, Christoph Heesen, A. Thie, 1997, Journal of Neurology.

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.

G. L. Masson, W. Löscher, P. Vermersch, 2017, The Lancet. Neurology.

Neuroprotection as Initial Therapy in Acute Stroke

J. Ferro, M. Eliasziw, E. Wijdicks, 1998, Cerebrovascular Diseases.

Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria

S. Rudnik-Schöneborn, W. Schmidt, B. Schoser, 2018, Neurology.

Therapeutic thoroughfares for adults living with Pompe disease

P. Laforêt, B. Schoser, 2022, Current opinion in neurology.

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

B. Schoser, T. Hundsberger, K. Rösler, 2019, Journal of Neurology.

Meta-opinion: from screening to diagnosis of Pompe disease – a European perspective

B. Schoser, Z. Lukacs, Z. Lukács, 2016 .

Diagnose und Therapie des Late-onset-Morbus-Pompe

M. Vorgerd, B. Schoser, Z. Lukacs, 2013, Der Nervenarzt.

Toward deconstructing the phenotype of late‐onset Pompe disease

B. Schoser, S. Wenninger, N. Strigl-Pill, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

Myoadenylate-deaminase gene mutation associated with left ventricular hypertrabeculation/non-compaction

J. Finsterer, B. Schoser, C. Stöllberger, 2004, Acta cardiologica.

Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.

K. Claeys, D. Pareyson, T. Mongini, 2022, Journal of neuromuscular diseases.

Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons

J. Dowling, A. Beggs, B. Schoser, 2016, Journal of neuropathology and experimental neurology.

Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany.

B. Schlotter-Weigel, I. Borggraefe, A. Blaschek, 2017, Journal of neuromuscular diseases.

Consequences of mutations within the C terminus of the FHL1 gene

H. Goebel, B. Schoser, C. Windpassinger, 2009, Neurology.

A genetic modifier of symptom onset in Pompe disease

B. Bembi, B. Schoser, W. Pijnappel, 2019, EBioMedicine.

Soluble guanylyl cyclase is localized at the neuromuscular junction in human skeletal muscle

B. Schoser, S. Behrends, Soenke Behrends, 2001, Neuroreport.

Metabolic, fibrotic and splicing pathways are all altered in Emery-Dreifuss muscular dystrophy spectrum patients to differing degrees

E. C. Schirmer, B. Schoser, Shaun Webb, 2022, bioRxiv.

Differential Diagnosis of Serum Creatine Kinase Elevation

B. Schoser, T. Witt, 2004 .

Use of peripheral electrical stimulation on healthy individual and patients after stroke and its effects on the somatosensory evoked potentials. A systematic review

B. Schoser, M. Mijić, P. Young, 2022, Frontiers in Neurology.

Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H

Hanns Lochmüller, B. Schoser, K. Borg, 2009, Human mutation.

Consensus-based care recommendations for adults with myotonic dystrophy type 1

P. Nopoulos, M. Bozzali, S. Pandya, 2018, Neurology. Clinical practice.

Pregnancy and delivery in women with Pompe disease.

M. Vorgerd, R. Kley, B. Schoser, 2014, Molecular genetics and metabolism.

Influence of age on metabolism of testosterone, dihydrotestosterone, and 3-alpha-androstanediol in muscle biopsies from patients with neuromuscular diseases.

B. Schoser, H. Stuerenburg, 2000, Archives of gerontology and geriatrics.

Efficacy of functional electrical stimulation in rehabilitating patients with foot drop symptoms after stroke and its correlation with somatosensory evoked potentials—a crossover randomised controlled trial

B. Schoser, P. Young, M. Mijic, 2022, Neurological Sciences.

Long-term efficiency of intravenously administered immunoglobulin in anti-Yo syndrome with paraneoplastic cerebellar degeneration

B. Schlotter-Weigel, J. Schessl, B. Schoser, 2011, Journal of Neurology.

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

A. Hamed, J. Jansen, B. Schoser, 2016, Journal of Neurology.

Evoked potentials during active horizontal head rotations in patients with vertigo

W. Zangemeister, B. Schoser, J. Lorenz, 2005, Neurological research.

Beyond Borders: Myotonic Dystrophies – A European Perception

G. Meola, B. Schoser, 2019, Frontiers Research Topics.

Reducing body myopathy and other FHL1-related muscular disorders.

J. Schessl, B. Schoser, S. Feldkirchner, 2011, Seminars in pediatric neurology.

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.

S. Dimauro, H. Prokisch, K. Gempel, 2007, Brain : a journal of neurology.

New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses

M. Tegenthoff, M. Vorgerd, M. Eisenacher, 2016, Acta neuropathologica communications.

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

B. Ertl-Wagner, M. Vorgerd, B. Schoser, 2015, Neuromuscular Disorders.

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

B. Schoser, S. Wenninger, S. Zierz, 2016, Journal of Neurology.

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

B. Schoser, 2016, Current opinion in neurology.

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

H. Goebel, P. Bergh, D. Claus, 2009, Neuromuscular Disorders.

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

R. Wanke, E. Wolf, H. Blum, 2013, Human molecular genetics.

Physiology, pathophysiology and diagnostic significance of autophagic changes in skeletal muscle tissue--towards the enigma of rimmed and round vacuoles.

B. Schoser, 2009, Clinical neuropathology.

Spontaneous recovery of a childhood onset mitochondrial myopathy caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene

Hanns Lochmüller, R. Horvath, D. Pongratz, 2004, Journal of Medical Genetics.

Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy

H. Lochmüller, R. Horvath, B. Schoser, 2005, Neuromuscular Disorders.

Expansion of CUG RNA repeats causes stress and inhibition of translation in myotonic dystrophy 1 (DM1) cells

O. Pereira-smith, B. Schoser, L. Timchenko, 2010, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

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

W. Kress, B. Schoser, S. Rost, 2016, European Journal of Human Genetics.

Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1

Wolfram Kress, Clemens R Müller, Marcus Deschauer, 2014, European Journal of Human Genetics.

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

Hanns Lochmüller, B. Schoser, S. Krause, 2011, Journal of Neurology.

Transcriptome Analysis in a Primary Human Muscle Cell Differentiation Model for Myotonic Dystrophy Type 1

B. Schoser, A. Hehr, P. Meinke, 2021, International journal of molecular sciences.

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

B. Schoser, O. Merkel, Aditi Mehta, 2019, PloS one.

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.

C. Ober, R. Hegele, O. Suchowersky, 2013, American journal of human genetics.

Recessive TRAPPC 11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

C. Ober, R. Hegele, O. Suchowersky, 2013 .

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

Wolfram Kress, Sabine Rudnik-Schöneborn, Joachim Weis, 2010, Journal of Neurology.

An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.

A. Noor, J. Vincent, Hanns Lochmüller, 2008, American journal of human genetics.

High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany

Hanns Lochmüller, W. Kress, B. Schoser, 2008, Journal of Neurology.

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy

A. Laquérriere, I. Nishino, D. Dembélé, 2011, Nature Medicine.

Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood

J. Glennon, S. Treweek, Hanns Lochmüller, 2022, BMC Medicine.

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

T. Strom, K. Bushby, Jacqueline A Palace, 2011, American journal of human genetics.

Muscle Biopsy as a Diagnostic Tool in Pompe Disease

B. Schoser, 2011 .

A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism

F. Muntoni, E. C. Schirmer, B. Schoser, 2019, EBioMedicine.

A Multistage Sequencing Strategy Pinpoints Many Novel and Candidate Disease Alleles for Orphan Disease Emery-Dreifuss Muscular Dystrophy and Supports Gene Misregulation as its Pathomechanism

F. Muntoni, E. C. Schirmer, B. Schoser, 2019, bioRxiv.

rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences

G. Meola, G. Bassez, J. Puymirat, 2018, Nature Communications.

Factors associated with the severity of COVID‐19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID‐19 Registry

S. Servidei, B. Schoser, M. Hanna, 2022, European journal of neurology.

Utility and Results from a Patient-Reported Online Survey in Myotonic Dystrophies Types 1 and 2

B. Schoser, F. Montagnese, K. Stahl, 2020, European Neurology.

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

M. Tarnopolsky, J. Puymirat, B. Schoser, 2009, Neurobiology of Disease.

DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression.

B. Schoser, L. Ranum, J. Day, 2006, Human molecular genetics.

Anti-agrin autoantibodies in myasthenia gravis

C. Gasperi, B. Schoser, A. Melms, 2014, Neurology.

Rippling Muscle Disease in Childhood

M. Vorgerd, B. Schoser, N. Popović, 2002, Journal of child neurology.

Myotonic Dystrophy—A Progeroid Disease?

B. Schoser, P. Meinke, S. Hintze, 2018, Front. Neurol..

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

T. Brüning, J. Malin, H. Goebel, 2003, Annals of neurology.

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Andreas Roos, Francesco Muntoni, Rita Barresi, 2017, American journal of human genetics.

McLeod myopathy revisted – More neurogenic and less benign

F. Heppner, A. Danek, M. Oechsner, 2007, Clinical Neurophysiology.

Beyond mean value analysis – a voxel‐based analysis of the quantitative MR biomarker water T2 in the presence of fatty infiltration in skeletal muscle tissue of patients with neuromuscular diseases

T. Baum, B. Schoser, J. Kirschke, 2022, NMR in biomedicine.

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

R. Lachmann, B. Schoser, 2013, Orphanet Journal of Rare Diseases.

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

B. Eymard, B. Schoser, R. Mantegazza, 2017, Journal of Neurology.

Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.

M. Vorgerd, Hanns Lochmüller, W. Kress, 2007, Brain : a journal of neurology.

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.

G. Comi, B. Koritnik, K. Claeys, 2020, Brain : a journal of neurology.

Novel recessive myotilin mutation causes severe myofibrillar myopathy

J. Schessl, W. Kress, B. Schoser, 2014, neurogenetics.

Scientific Aspects and Clinical Signs of Muscle Pain—Three Years Later

D. Pongratz, B. Schoser, 2008 .

PRESIDENT'S ADDRESS Scientific Aspects and Clinical Signs of Muscle Pain — Three Years Later

D. Pongratz, B. Schoser, 2008 .

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

B. Schlotter-Weigel, Hanns Lochmüller, D. Pongratz, 2006, Neuromuscular Disorders.

Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease

M. Manto, B. Schoser, C. Kubisch, 2004, Journal of Neurology, Neurosurgery & Psychiatry.

A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation

H. Goebel, M. Vorgerd, W. Kress, 2001, Neurology.

Thigh muscle segmentation of chemical shift encoding-based water-fat magnetic resonance images: The reference database MyoSegmenTUM

Thomas Baum, Ernst J Rummeny, Claus Zimmer, 2018, PloS one.

Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss

H. Fuchs, L. Petrucelli, T. Strom, 2017, Acta Neuropathologica.

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

R. Horvath, B. Schoser, B. Czermin, 2011, Neuromuscular Disorders.

Myotonic Dystrophies 1 and 2: Complex Diseases with Complex Mechanisms

B. Schoser, L. Timchenko, 2010, Current genomics.

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.

G. Meola, A. Shyu, B. Schoser, 2011, The American journal of pathology.

A systematic review on the definition of rhabdomyolysis

B. Schoser, K. Stahl, E. Rastelli, 2019, Journal of Neurology.

CTG-Repeat Detection in Primary Human Myoblasts of Myotonic Dystrophy Type 1

B. Schoser, P. Meinke, S. Hintze, 2021, Frontiers in Neuroscience.

Nuclear envelope transmembrane proteins involved in genome organization are misregulated in myotonic dystrophy type 1 muscle

B. Schoser, P. Meinke, S. Hintze, 2023, Frontiers in Cell and Developmental Biology.

Nuclear Envelope Transmembrane Proteins in Myotonic Dystrophy Type 1

B. Schoser, P. Meinke, S. Hintze, 2018, Front. Physiol..

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

C. Groden, B. Schoser, C. Groden, 1999, Addiction.

Autoimmune hyperthyroidism in multiple sclerosis under treatment with glatiramer acetate – a case report

B. Schoser, C. Heesen, J. Gbadamosi, 2001, European journal of neurology.

Molecular biomarkers monitoring human skeletal muscle fibres and microvasculature following long‐term bed rest with and without countermeasures

B. Schoser, M. Salanova, D. Blottner, 2008, Journal of anatomy.

MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1

Nick C Fox, T. Heskes, C. Kennard, 2019, Brain : a journal of neurology.

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

W. Kress, B. Schoser, D. Sternberg, 2007, Muscle & nerve.

“Orbiting around” the orbital myositis: clinical features, differential diagnosis and therapy

B. Schoser, F. Montagnese, S. Wenninger, 2015, Journal of Neurology.

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

G. Bassez, H. Lochmüller, B. V. van Engelen, 2019, Neurology.

Cutaneous T-cell lymphoma mimicking myopathy with lipoatrophy

M. Flaig, B. Schoser, P. Reilich, 2021, Neuromuscular Disorders.

ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation

K. Bushby, F. Muntoni, A. Schapira, 2013, Human mutation.

Proteomic characterization of aggregate components in an intrafamilial variable FHL1-associated myopathy

J. Schessl, W. Kress, B. Schoser, 2013, Neuromuscular Disorders.

Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy

B. Wirth, K. Zerres, S. Rudnik-Schöneborn, 2007, Neurogenetics.

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

P. Laforêt, B. Schoser, M. Kruijshaar, 2015, Neuromuscular Disorders.

Extraocular Mitochondrial Myopathies and their Differential Diagnoses

D. Pongratz, B. Schoser, 2006, Strabismus.

A Systematic Review of the Health Economics of Pompe Disease

B. Schoser, S. Prasad, D. Gupta, 2019, PharmacoEconomics - open.

Influence of IGF-I serum concentration on muscular regeneration capacity in patients with sarcopenia

M. Bidlingmaier, M. Drey, B. Schoser, 2021, BMC Musculoskeletal Disorders.

Type-2 muscle fiber atrophy is associated with sarcopenia in elderly men with hip fracture

C. Kammerlander, M. Drey, B. Schoser, 2020, Experimental Gerontology.

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

K. Bötzel, A. Ceballos-Baumann, M. Drey, 2020, Gerontology.

Isolation and Characterization of Primary DMD Pig Muscle Cells as an In Vitro Model for Preclinical Research on Duchenne Muscular Dystrophy

B. Schoser, S. Krause, M. Walter, 2022, Life.

Polyneuropathies. Etiology, Diagnosis, and Treatment Options

C. Sommer, B. Schoser, R. Forst, 2018 .

[Metabolic myopathies - an overview].

B. Schoser, M. Lammens, 2009, Der Pathologe.

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

Nicolas A. Dumont, K. Kandaswamy, T. Strom, 2019, Genetics in Medicine.

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

B. Schoser, D. Dimmock, S. Prasad, 2017, BMC Neurology.

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

B. Schrank, R. Horvath, B. Schoser, 2017, Neuromuscular Disorders.

Mutations in the acid α-glucosidase gene (M. Pompe) in a patient with an unusual phenotype

D. Pongratz, B. Schoser, J. Anneser, 2005, Neurology.

Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract.

C. Liquori, B. Schoser, L. Ranum, 2003, American journal of human genetics.

B. Schoser, N. Karabul, S. Wenninger, 2015, European journal of neurology.

In vivo characterization of human myofibrillar myopathy genes in zebrafish.

W. Rottbauer, L. Eichinger, J. Schessl, 2015, Biochemical and biophysical research communications.

Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum

K. Claeys, M. Gaeta, R. Kley, 2015, Neuromuscular Disorders.

Homozygosity for CCTG mutation in myotonic dystrophy type 2.

Hanns Lochmüller, W. Kress, B. Schoser, 2004, Brain : a journal of neurology.

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

E. Malfatti, N. Romero, I. Nishino, 2019, Acta Neuropathologica Communications.

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

A. Martinuzzi, B. Schoser, R. Quinlivan, 2014, The Cochrane database of systematic reviews.

Slowly Progressive Limb-Girdle Weakness and HyperCKemia - Limb Girdle Muscular Dystrophy or Anti-3-Hydroxy-3-Methylglutaryl-CoA-Reductase-Myopathy?

A. Mammen, C. Bönnemann, B. Schoser, 2022, Journal of neuromuscular diseases.

Successful treatment with azacitidine in VEXAS syndrome with prominent myofasciitis.

K. Götze, B. Hemmer, T. Haack, 2021, Rheumatology.

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience

P. Bergh, R. Lachmann, P. Laforêt, 2019, Neuromuscular Diseases.

[Diagnosis and therapy of late onset Pompe disease].

M. Vorgerd, B. Schoser, Z. Lukacs, 2013, Der Nervenarzt.

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

B. Schlotter-Weigel, B. Schoser, Z. Lukacs, 2016, Neurology.

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

B. Schoser, K. Stahl, S. Wenninger, 2018, Journal of Neurology.

[Lipid lowering drug and other toxic myopathies].

D. Pongratz, B. Schoser, 2005, Der Internist.

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

Hanns Lochmüller, Rachel Thompson, B. Schoser, 2009, Neuromuscular Disorders.

Falls and resulting fractures in Myotonic Dystrophy: Results from a multinational retrospective survey

B. Engelen, H. Lochmüller, B. Schoser, 2017, Neuromuscular Disorders.

2010 Marigold therapeutic strategies for myotonic dystrophy

B. Engelen, B. Wieringa, B. Schoser, 2012, Neuromuscular Disorders.

A tRNAAla mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy

P. Oefner, D. Auer, C. Scharfe, 2003, Journal of medical genetics.

Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks

Y. Chien, B. Schoser, S. Illarioshkin, 2023, JAMA neurology.

Urge incontinence and gastrointestinal symptoms in adult patients with pompe disease: a cross-sectional survey.

M. Vorgerd, R. Kley, B. Schoser, 2014, JIMD reports.

Guideline “Motor neuron diseases” of the German Society of Neurology (Deutsche Gesellschaft für Neurologie)

S. Petri, J. Grosskreutz, B. Schoser, 2023, Neurological Research and Practice.

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

H. Goebel, W. Stenzel, B. Schoser, 2016, Acta neuropathologica communications.

Mis-regulation of the alternative splicing of BIN 1 is associated with T-tubule alterations and muscle weakness in myotonic dystrophy

Ylva, A. Laquérriere, I. Nishino, 2011 .

Nuclear Small Dystrophin Isoforms during Muscle Differentiation

B. Schoser, M. Walter, P. Meinke, 2023, Life.

Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.

D. Pongratz, B. Schoser, J. Anneser, 2005, Neurology.

Amifampridine phosphate (Firdapse®) is effective and safe in a phase 3 clinical trial in LEMS

B. Schoser, P. Shieh, S. Komoly, 2016, Muscle & nerve.

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

B. Schoser, 2013, BMC Musculoskeletal Disorders.

P.47 Congenital centronuclear myopathy and epidermolysis bullosa due to two novel mutations in the plectin gene

B. Schoser, S. Krause, M. Walter, 2017, Neuromuscular Disorders.

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

Aliz R. Rao, S. Nelson, W. Wilcox, 2016, Circulation. Cardiovascular genetics.

Spongious Hypertrophic Cardiomyopathy in Patients With Mutations in the Four-and-a-Half LIM Domain 1 Gene

J. Vincent, A. Berghold, G. Plank, 2012, Circulation. Cardiovascular genetics.

Glycogen storage diseases of all types

B. Schoser, G. Hoffmann, P. Smit, 2015, Journal of Inherited Metabolic Disease.

[The Spectrum of Neuromyotonia: Clinics, Therapy and Outcome].

B. Schoser, S. Wenninger, 2015, Fortschritte der Neurologie-Psychiatrie.

Clinical and Ultrasonic Long-Term Results of Percutaneous Transluminal Carotid Angioplasty

A. Thie, H. Zeumer, B. Schoser, 1998, Cerebrovascular Diseases.

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

A. Martinuzzi, B. Schoser, R. Quinlivan, 2010, The Cochrane database of systematic reviews.

Degeneration of muscle spindles in a murine model of Pompe disease

B. Schoser, S. Kröger, P. Meinke, 2023, Scientific reports.

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

P. Laforêt, B. Schoser, M. Kruijshaar, 2015, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Prediction of response to IVIg treatment in patients with lower motor neurone disorders

D. Pongratz, B. Schoser, A. König, 2006, European journal of neurology.

Clinical Outcome Evaluations and CBT Response Prediction in Myotonic Dystrophy

J. Glennon, Hanns Lochmüller, G. Bassez, 2021, medRxiv.

FYCO1 Increase and Effect of Arimoclomol–Treatment in Human VCP–Pathology

M. Vorgerd, R. Zahedi, B. Schoser, 2022, Biomedicines.

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

K. Rostásy, B. Schoser, C. Haberler, 2018, Neuromuscular Disorders.

Evaluation of myotonometry for myotonia, muscle stiffness and elasticity in neuromuscular disorders.

B. Schoser, K. Gutschmidt, S. Wenninger, 2023, Journal of neurology.

238 TAILORED PIG MODEL OF DUCHENNE MUSCULAR DYSTROPHY

E. Wolf, V. Zakhartchenko, Hanns Lochmüller, 2012 .

Efficacy and safety results of the avalglucosidase alfa phase 3 COMET trial in late-onset Pompe disease patients

Y. Chien, B. Schoser, S. Illarioshkin, 2021, Molecular Genetics and Metabolism.

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

Benedikt Schoser, B. Schoser, H. Hansen, 1999, Journal of neurosurgery.

How to capture activities of daily living in myotonic dystrophy type 2?

B. Schoser, F. Montagnese, K. Stahl, 2020, Neuromuscular Disorders.

Perceived pain and temporomandibular disorders in neuromuscular diseases

B. Schoser, M. Bernateck, Michael J. Fischer, 2009, Muscle & nerve.

Morphological and molecular comparison of HIV-associated and sporadic inclusion body myositis

A. Brunn, M. Deckert, H. Goebel, 2023, Journal of Neurology.

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

A. Hamed, J. Jansen, B. Schoser, 2016, Journal of Neurology.

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

R. Dodel, B. Schoser, R. Schröder, 2018, Fortschritte der Neurologie-Psychiatrie.

Sarcopenia - Endocrinological and Neurological Aspects.

T. Gudermann, B. Thorand, M. Drey, 2018, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

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

J. Schessl, W. Kress, B. Schoser, 2012, Muscle & nerve.

In vivo characterization of human myofibrillar myopathy genes in zebrafish.

W. Rottbauer, L. Eichinger, J. Schessl, 2015, Biochemical and biophysical research communications.

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

W. Stenzel, B. Schoser, 2017, Neuropediatrics.

Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing.

W. Heide, T. Neuhann, B. Schoser, 2022, Brain : a journal of neurology.

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

B. Schoser, 2018, Developmental Medicine & Child Neurology.

Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study.

A. Pestronk, C. Bjartmar, R. Carlier, 2016, Molecular genetics and metabolism.