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List of works by Benedikt Schoser

"Orbiting around" the orbital myositis: clinical features, differential diagnosis and therapy.

scientific article published on 17 October 2015

140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management

scientific article (publication date: June 2006)

2010 Marigold therapeutic strategies for myotonic dystrophy

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

scientific article (publication date: August 2015)

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

scientific article published on 31 January 2012

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

scientific article

A Phase 4 Prospective Study in Patients with Adult Pompe Disease Treated with Alglucosidase Alfa

scientific article published in January 2015

A Systematic Review of the Health Economics of Pompe Disease

scientific article published on 01 December 2019

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

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

scientific article published on 01 May 2007

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy

scientific article published on 16 April 2012

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

scientific article

A role for PLCβ1 in myotonic dystrophies type 1 and 2

article

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

scientific article published on 01 December 2001

A tRNA(Ala) mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy

scientific article published in October 2003

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

scientific article published on 12 June 2013

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

scientific article published on 24 July 2009

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

scientific article published on 25 May 2007

Acute overdosage and intoxication with carbidopa/levodopa can be detected in the subacute stage by measurement of 3-o-methyldopa

scientific article published in July 1999

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

scientific article published on 15 June 2007

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

scientific article published in July 1999

Age related profiles of free amino acids in human skeletal muscle

scientific article published on 01 February 2006

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

scientific article published on 29 May 2013

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

scientific article published on 6 February 2016

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

scientific article

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

scientific article (publication date: March 2012)

Anti-agrin autoantibodies in myasthenia gravis.

scientific article

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

scientific article published in August 2014

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

scientific article

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

scientific article published on 01 March 2001

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

scientific article published on September 2007

CD95-mediated apoptosis and DNA fragmentation in MS

scientific article published on 01 November 2000

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

scientific article published on 15 December 2018

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

scientific article published on 01 August 2001

Cerebral hyperperfusion injury after percutaneous transluminal angioplasty of extracranial arteries

scientific article published on 01 February 1997

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

scientific article published on 20 February 2019

Clinical and ultrasonic long-term results of percutaneous transluminal carotid angioplasty. A prospective follow-up of 30 carotid angioplasties

scientific article published on 01 January 1998

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

scientific article published on 01 November 2008

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

scientific article published in January 2015

Coenzyme Q10 deficiency and isolated myopathy.

scientific article published in January 2006

Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H.

scientific article

Congenital and endogenous endocrine myopathy ⬇️

scientific article published on 01 November 2011

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Consequences of mutations within the C terminus of the FHL1 gene

scientific article published in August 2009

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

scientific article

Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand...

scientific article

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

scientific article published on 10 June 2019

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

scientific article published on 16 July 2011

Diagnosis and therapy of late onset Pompe disease

scientific article published in December 2013

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

scientific article published on 5 November 2014

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

scientific article published on 01 October 2016

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

scientific article published on 8 July 2016

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

scientific article published on 4 June 2004

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

scientific article published on 27 April 2016

Dyslexia and cognitive impairment in adult patients with myotonic dystrophy type 1: a clinical prospective analysis

scientific article published on 26 August 2020

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

scientific article

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

scientific article

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

scientific article published on 21 April 2016

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

scientific article

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.

scientific article published on August 2009

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

scientific article

Evoked potentials during active horizontal head rotations in patients with vertigo

scientific article

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

scientific article published on March 2016

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

scientific article

Expression of RNA CCUG repeats dysregulates translation and degradation of proteins in myotonic dystrophy 2 patients

scientific article published on 09 July 2009

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

scientific article

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

article

Four and a half LIM protein 1C (FHL1C): a binding partner for voltage-gated potassium channel K(v1.5).

scientific article

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

scientific article published on 08 August 2019

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

scientific article published in 2022

Glycogen storage diseases of all types

scientific article published on 01 May 2015

Hemiballistic syndrome in a drummer

scientific article

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

scientific article

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

scientific article

Homozygosity for CCTG mutation in myotonic dystrophy type 2.

scientific article published in July 2004

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

scientific article published on 10 July 2015

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

scientific article published in April 2003

How much expansion to be diseased?: toward repeat size and myotonic dystrophy type 2.

scientific article published in February 2009

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

scientific journal article

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

scientific article published on 8 February 2009

Immunolocalization of leukemia inhibitory factor in normal and denervated human muscle

scientific article published on 01 August 1998

Immunolocalization of tenascin-C in human type II fiber atrophy

scientific article

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

scientific article published on 01 November 1999

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

scientific article published on 01 September 1999

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

scientific article published in September 2009

In vivo characterization of human myofibrillar myopathy genes in zebrafish

scientific article published on 9 April 2015

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

scientific article

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

Lipid lowering drug and other toxic myopathies

scientific article

Lipid storage myopathies. A clinical and pathobiochemical challenge

scientific article published in December 2010

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

scientific article published on 21 December 2010

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

scientific article published on 18 May 2016

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

scientific article published on 01 September 1999

Matrix metalloproteinases in inflammatory myopathies: enhanced immunoreactivity near atrophic myofibers

scientific article published on 01 April 2002

McLeod myopathy revisited: more neurogenic and less benign

scientific article

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

scientific article

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

scientific article published on 29 May 2011

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

scientific article

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

scientific article published on 21 January 2008

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

scientific article published on 10 April 2020

Motor excitability in myopathy

scientific article published on 01 January 2004

Muscle MRI findings in limb girdle muscular dystrophy type 2L

article

Muscle histology changes after short term vibration training in healthy controls

scientific article

Muscle pathology in 57 patients with myotonic dystrophy type 2

scholarly article by Benedikt Schoser et al published 2 January 2004 in Muscle and Nerve

Muscle ultrasound in classic infantile and adult Pompe disease: a useful screening tool in adults but not in infants

scientific article published on 22 October 2014

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

scientific article (publication date: July 2001)

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

scientific article

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

scientific article published on 01 January 2005

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

article

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

scientific article published on 01 August 2004

Myofibrillar myopathies: a clinical and myopathological guide.

scientific article published on July 2009

Myotonic dystrophies 1 and 2: complex diseases with complex mechanisms.

scientific article

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

scientific article published on June 2006

Myotonic dystrophy type 2 (DM2) and related disorders

scientific article published on 04 May 2011

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

scientific article

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

article

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

scientific article published on 3 February 2016

Non-ATG-initiated translation directed by microsatellite expansions

scientific article

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

scientific article published on 02 December 2020

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

scientific article

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

scientific article published on 30 March 2018

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

scientific article

Novel recessive myotilin mutation causes severe myofibrillar myopathy

scientific article

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

article

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

scientific article published on March 2007

Outcome and effect of pregnancy in myotonic dystrophy type 2

scientific article published on 01 February 2006

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

scientific article

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

scientific article published on 01 August 1997

Pathological consequences of VCP mutations on human striated muscle

scientific article published on 19 September 2006

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

scientific article published on 20 October 2009

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

scientific article published on 05 November 2012

Perceived pain and temporomandibular disorders in neuromuscular diseases

scientific article published on 01 October 2009

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

scientific article (publication date: 12 November 2014)

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

scientific article (publication date: 8 December 2010)

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

scientific article published on January 2009

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

scientific article

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

scientific article published in February 2006

Pregnancy and delivery in women with Pompe disease

scientific article

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

scientific article published on 11 May 2016

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

scientific article published on 19 May 2016

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

scientific article

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

scientific article

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

scientific article published on 03 July 2013

Reducing body myopathy and other FHL1-related muscular disorders.

scientific article published on December 2011

Reduction of the rate of protein translation in patients with myotonic dystrophy 2

scientific article published on July 2009

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

scientific article published on 15 June 2015

Rippling muscle disease in childhood

scientific article published in July 2002

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

scientific article

Serum levels of matrix metalloproteinases-2 and -9 and their tissue inhibitors in inflammatory neuromuscular disorders

scientific article published on 13 June 2006

Side effects of anesthesia in DM2 as compared to DM1: a comparative retrospective study

scientific article

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

scientific article

Sleep-related symptoms and sleep-disordered breathing in adult Pompe disease

scientific article published on 4 November 2014

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

scientific article published in April 2001

Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene

scientific article published on 25 August 2012

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

scientific article published in June 2004

Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.

scientific article published on 9 September 2010

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

scientific article published in March 1999

Sudden cardiac death in myotonic dystrophy type 2.

scientific article

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

scientific article

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

scientific article published on 01 July 2018

Tenascin in denervated human muscle

scientific article published on 01 August 1996

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

scientific article

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

scientific article published in May 2010

The frequency and severity of cardiac involvement in myotonic dystrophy type 2 (DM2): long-term outcomes.

scientific article published on 23 December 2012

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

scientific article published on 22 November 2017

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

scientific article published on 09 May 2012

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

scientific article published on 01 November 1999

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

scientific article

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

article

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

scientific article

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

scientific article published on 02 January 2014

Therapeutic approaches in glycogen storage disease type II/Pompe Disease.

scientific article published on October 2008

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

scientific article published on 7 June 2018

Toward deconstructing the phenotype of late-onset Pompe disease.

scientific article published on 17 January 2012

Transplantation of genetically corrected human iPSC-derived progenitors in mice with limb-girdle muscular dystrophy.

scientific article published on June 2012

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

scientific article published on 22 November 2016

Unclassified polysaccharidosis of the heart and skeletal muscle in siblings.

scientific article published on 08 August 2008

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

scientific article

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

scientific article published on 17 February 2016

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

scientific article published on 24 December 2019

[Inflammatory myopathies]

scientific article published on 01 October 2009

[Metabolic myopathies - an overview]

scientific article published on 01 September 2009

[Myalgia and myopathy]

scientific article published on 01 August 2015

[Neuromuscular diseases]

scientific article published on 01 June 2011

[Neuromuscular signal transmission in adulthood. Current facets of acquired and hereditary disorders]

scientific article published on 01 June 2011

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

scientific article published on 01 August 2015

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