S. Krause

发表

Integrative Analysis of MicroRNA and mRNA Data Reveals an Orchestrated Function of MicroRNAs in Skeletal Myocyte Differentiation in Response to TNF-α or IGF1

Fabian J Theis, S. Bauersachs, H. Blum, 2015, PloS one.

Localization of UDP-GlcNAc 2-epimerase/ManAc kinase (GNE) in the Golgi complex and the nucleus of mammalian cells.

H. Wiendl, Hanns Lochmüller, S. Krause, 2005, Experimental cell research.

Late-onset neuromuscular disorders in the differential diagnosis of sarcopenia

M. Drey, B. Schoser, S. Krause, 2021, BMC Neurology.

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

J. Schessl, W. Kress, B. Schoser, 2010, Neuromuscular Disorders.

A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.

K. Bushby, P. Chinnery, H. Lochmüller, 2011, Brain : a journal of neurology.

Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient

B. Ertl-Wagner, B. Schoser, S. Krause, 2017, Neuromuscular Disorders.

The ubiquitin-selective chaperone Cdc48/p97 associates with Ubx3 to modulate monoubiquitylation of histone H2B

S. Krause, C. Dargemont, W. Pokrzywa, 2014, Nucleic acids research.

Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts

Charles D. Smith, D. Wallace, V. Kimonis, 2009, Neuromuscular Disorders.

Pathological consequences of VCP mutations on human striated muscle.

E. Wanker, A. Noegel, V. Kimonis, 2007, Brain : a journal of neurology.

The immunoproteasomes are key to regulate myokines and MHC class I expression in idiopathic inflammatory myopathies.

Andreas Marg, W. Stenzel, B. Xin, 2016, Journal of autoimmunity.

Antigen processing and presentation in human muscle: cathepsin S is critical for MHC class II expression and upregulated in inflammatory myopathies

H. Wiendl, Hanns Lochmüller, S. Krause, 2003, Journal of Neuroimmunology.

Tumor Necrosis Factor Alpha and Insulin-Like Growth Factor 1 Induced Modifications of the Gene Expression Kinetics of Differentiating Skeletal Muscle Cells

H. Blum, M. Pfaffl, Swanhild U. Meyer, 2015, PloS one.

TNF-α and IGF1 modify the microRNA signature in skeletal muscle cell differentiation

S. Bauersachs, M. Pfaffl, Swanhild U. Meyer, 2015, Cell Communication and Signaling.

Cost of illness in Charcot-Marie-Tooth neuropathy

S. Krause, M. Walter, P. Reilich, 2019, Neurology.

S. Krause, M. Walter, K. Nagels, 2022, Orphanet Journal of Rare Diseases.

THU0252 Immunoproteasome subunits are up-regulated in inflammatory myopathies

G. Burmester, S. Krause, E. Feist, 2013 .

Upregulation of Immunoproteasome Subunits in Myositis Indicates Active Inflammation with Involvement of Antigen Presenting Cells, CD8 T-Cells and IFNγ

G. Burmester, S. Krause, T. Häupl, 2014, PloS one.

Skeletal muscle provides the immunological micro-milieu for specific plasma cells in anti-synthetase syndrome-associated myositis

J. Lünemann, H. Wiendl, S. Meuth, 2022, Acta Neuropathologica.

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.

Assessment of disease progression in dysferlinopathy

A. Pestronk, A. Blamire, J. Mendell, 2019, Neurology.

Assessment of disease progression in dysferlinopathy A 1-year cohort study

A. Pestronk, A. Blamire, J. Mendell, 2022 .

The multifaceted clinical presentation of VCP-proteinopathy in a Greek family.

S. Krause, M. Walter, E. Kapaki, 2017, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Congenital myopathy and epidermolysis bullosa due to PLEC variant

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

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.

Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus

R. Schwarzwald, W. Kress, S. Krause, 2010, Journal of the Neurological Sciences.

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

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

In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion.

P. Chinnery, H. Lochmüller, R. Horvath, 2012, Molecular genetics and metabolism.

Skeletal muscle provides the immunological micro-milieu for specific plasma cells in anti-synthetase syndrome-associated myositis

J. Lünemann, H. Wiendl, S. Meuth, 2022, Acta Neuropathologica.

Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)

Z. Molnár, N. Laing, I. Nishino, 2006, Neuromuscular Disorders.

Delivery of oligonucleotide‐based therapeutics: challenges and opportunities

Annemieke Aartsma-Rus, V. Arechavala-Gomeza, A. Goyenvalle, 2021, EMBO molecular medicine.

Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials

H. Otero, A. Pestronk, A. Blamire, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

GNE myopathy in Roma patients homozygous for the p.I618T founder mutation

M. Bahlo, H. Goebel, L. Kalaydjieva, 2015, Neuromuscular Disorders.

Missense mutations of ACTA1 cause dominant congenital myopathy with cores

H. Goebel, H. Lochmüller, F. Rüschendorf, 2004, Journal of Medical Genetics.

Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele

D. Wieczorek, Hanns Lochmüller, C. Thirion, 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.

Somatic gene editing ameliorates skeletal and cardiac muscle failure in pig and human models of Duchenne muscular dystrophy

E. Wolf, H. Blum, W. Wurst, 2020, Nature Medicine.

TNF-α and IGF 1 modify the microRNA signature in skeletal muscle cell differentiation

S. Bauersachs, M. Pfaffl, Swanhild U. Meyer, 2015 .

A scalable, clinically severe pig model for Duchenne muscular dystrophy

R. Wanke, S. Ziegler, C. Bearzi, 2021, bioRxiv.

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.

UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) Binds to Alpha-Actinin 1: Novel Pathways in Skeletal Muscle?

D. MacArthur, K. North, S. Krause, 2008, PloS one.

Antisense-Mediated Skipping of Dysferlin Exons in Control and Dysferlinopathy Patient-Derived Cells.

K. Mamchaoui, Annemieke Aartsma-Rus, V. Mouly, 2019, Nucleic acid therapeutics.

Insights into Muscle Degeneration from Heritable Inclusion Body Myopathies

S. Krause, 2015, Front. Aging Neurosci..

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

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

The ubiquitin-selective chaperone CDC-48/p97 links myosin assembly to human myopathy

Hanns Lochmüller, P. C. Janiesch, S. Krause, 2007, Nature Cell Biology.

Progressive muscle proteome changes in a clinically relevant pig model of Duchenne muscular dystrophy

R. Wanke, E. Wolf, S. Krause, 2016, Scientific Reports.

Analysis of HLA class I and II alleles in sporadic inclusion-body myositis

Rolf Schröder, Heinz Reichmann, Sabine Krause, 2003, Journal of Neurology.

A new web-based method for automated analysis of muscle histology

Hanns Lochmüller, C. Thirion, S. Krause, 2013, BMC Musculoskeletal Disorders.

Characterization of hereditary inclusion body myopathy myoblasts: possible primary impairment of apoptotic events

S. Krause, S. Mitrani‐Rosenbaum, H. Ben-bassat, 2007, Cell Death and Differentiation.

No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation.

K. Yarema, W. Reutter, S. Krause, 2005, Biochemical and biophysical research communications.

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.

Autosomal dominant nemaline myopathy caused by a novel α-tropomyosin 3 mutation

T. Struffert, S. Krause, G. Dekomien, 2010, Journal of Neurology.

Somatic gene editing ameliorates skeletal and cardiac muscle failure in pig and human models of Duchenne muscular dystrophy

E. Wolf, H. Blum, W. Wurst, 2020, Nature Medicine.

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

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

Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa

S. Mundlos, M. Holtgrewe, M. Schuelke, 2020, Journal of inherited metabolic disease.

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.

Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations

Hanns Lochmüller, S. Krause, V. Rašić, 2006, Neurology.

CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.

Hanns Lochmüller, S. Krause, J. Cossins, 2006, Brain : a journal of neurology.

A scalable, clinically severe pig model for Duchenne muscular dystrophy.

R. Wanke, S. Ziegler, C. Bearzi, 2021, Disease models & mechanisms.

A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation

Wolfgang Müller-Felber, Heinz Wiendl, Sabine Krause, 2003, Neuromuscular Disorders.

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.

McArdle disease and sporadic inclusion body myositis

P. Tonin, M. Filosto, S. Krause, 2009, Neuropathology and Applied Neurobiology.

Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy.

S. Krause, S. Çırak, T. Voit, 2006, Biochemistry.

Divergent Molecular Effects of Desmin Mutations on Protein Assembly in Myofibrillar Myopathy

K. Bötzel, A. Giese, H. Kretzschmar, 2010, Journal of Neuropathology and Experimental Neurology.

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.

5' trans-splicing repair of the PLEC1 gene.

Hanns Lochmüller, L. Mitchell, S. Krause, 2008, The Journal of investigative dermatology.

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

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

GNE protein expression and subcellular distribution are unaltered in HIBM

Hanns Lochmüller, S. Krause, M. Walter, 2007, Neurology.

238 TAILORED PIG MODEL OF DUCHENNE MUSCULAR DYSTROPHY

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

Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family

Hanns Lochmüller, S. Krause, M. Walter, 2010, Neuromuscular Disorders.

Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

Yoshihiko Saito, K. Claeys, E. Malfatti, 2023, Journal of Neurology.