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List of works by Simone Spuler

A Molecular Signature of Myalgia in Myotonic Dystrophy 2

scientific article published on 14 March 2016

Ahnak1 abnormally localizes in muscular dystrophies and contributes to muscle vesicle release ⬇️

scientific article published on November 5, 2011

Altered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1)

scientific article

Another side to statin-related side effects

scientific article published in April 2010

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

scientific article published on 09 January 2019

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy

scientific article

Cardiac Involvement in Myotonic Dystrophy Type 2 Patients With Preserved Ejection Fraction: Detection by Cardiovascular Magnetic Resonance

scientific article

Cardiac involvement in sporadic inclusion-body myositis

scientific article published in February 2010

Cavin 1 function does not follow caveolar morphology

scientific article published on 22 April 2015

Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation

scientific article published in January 2010

Critical illness myopathy and GLUT4: significance of insulin and muscle contraction

scientific article published on 13 December 2012

Critical illness myopathy is frequent: accompanying neuropathy protracts ICU discharge

scientific article published on 27 August 2010

Delay in diagnosis of muscle disorders depends on the subspecialty of the initially consulted physician ⬇️

scientific article published on May 4, 2011

Dynamics of myosin degradation in intensive care unit-acquired weakness during severe critical illness

scientific article published on 15 February 2014

Dysferlin rescue by spliceosome-mediated pre-mRNA trans-splicing targeting introns harbouring weakly defined 3' splice sites

scientific article published on 22 April 2015

Dysferlin-deficient immortalized human myoblasts and myotubes as a useful tool to study dysferlinopathy

scientific article

Dysferlin-deficient muscular dystrophy features amyloidosis.

scientific article

Dysferlin-deficient muscular dystrophy: gadofluorine M suitability at MR imaging in a mouse model

scientific article

Dysferlin-peptides reallocate mutated dysferlin thereby restoring function

scientific article

Dysfunction of dysferlin-deficient hearts

scientific article published on 9 September 2007

Early type II fiber atrophy in intensive care unit patients with nonexcitable muscle membrane

scientific article published in February 2012

Exon Skipping in a Dysf-Missense Mutant Mouse Model

scholarly article by Jakub Malcher et al published December 2018 in Molecular therapy. Nucleic acids

FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy

scientific article published in November 2016

Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations

scientific article

Free fatty acids link metabolism and regulation of the insulin-sensitizing fibroblast growth factor-21.

scientific article published on 28 April 2009

Full-length Dysferlin Transfer by the Hyperactive Sleeping Beauty Transposase Restores Dysferlin-deficient Muscle

scientific article published on 19 January 2016

Generation of hiPSC-Derived Skeletal Muscle Cells: Exploiting the Potential of Skeletal Muscle-Derived hiPSCs

scientific article published on 23 May 2022

Human muscle-derived CLEC14A-positive cells regenerate muscle independent of PAX7

scientific article published on 18 December 2019

Human satellite cells have regenerative capacity and are genetically manipulable.

scientific article

Identifying dynamic membrane structures with atomic-force microscopy and confocal imaging

scientific article published on 13 February 2014

Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders

scientific article

Inflammation-induced acute phase response in skeletal muscle and critical illness myopathy

scientific article

LMNA mutations, skeletal muscle lipid metabolism, and insulin resistance

scientific article

Linking cytoarchitecture to metabolism: sarcolemma-associated plectin affects glucose uptake by destabilizing microtubule networks in mdx myofibers

scientific article published on 12 June 2013

Lipid accumulation in dysferlin-deficient muscles

scientific article published on 29 March 2014

Localized irradiation of mouse legs using an image-guided robotic linear accelerator

scientific article

Long-term recovery In critical illness myopathy is complete, contrary to polyneuropathy

scientific article published on 14 July 2014

Loss of Ptpn11 (Shp2) drives satellite cells into quiescence

scientific article published on 2 May 2017

Muscle Atrophy Due to Nerve Damage Is Accompanied by Elevated Myofibrillar Protein Synthesis Rates

scientific article published on 31 August 2018

Muscle wasting and function after muscle activation and early protocol-based physiotherapy: an explorative trial

scientific article published on 23 April 2019

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy

scientific article published on 27 August 2009

Myopathy causing camptocormia in idiopathic Parkinson's disease: a multidisciplinary approach

scientific article published in April 2010

Nerve damage induced skeletal muscle atrophy is associated with increased accumulation of intramuscular glucose and polyol pathway intermediates

scientific article published on 05 February 2020

Nonexcitable muscle membrane predicts intensive care unit-acquired paresis in mechanically ventilated, sedated patients

scientific article published in September 2009

Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding.

scientific article

Oscillations of MyoD and Hes1 proteins regulate the maintenance of activated muscle stem cells

scientific article published on 12 March 2019

Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF.

scientific article published on 28 November 2006

Peroxisome proliferator-activated receptor-gamma C190S mutation causes partial lipodystrophy

scientific article published on 13 March 2007

Risk factors in critical illness myopathy during the early course of critical illness: a prospective observational study

scientific article

Sarcolemmal Repair Is a Slow Process and Includes EHD2 ⬇️

scientific article published on June 29, 2012

Single-nucleus transcriptomics reveals functional compartmentalization in syncytial skeletal muscle cells

scientific article published on 11 December 2020

Skeletal Muscle 11beta-HSD1 Controls Glucocorticoid-Induced Proteolysis and Expression of E3 Ubiquitin Ligases Atrogin-1 and MuRF-1 ⬇️

scientific article published on January 31, 2011

Statin-induced myopathic changes in primary human muscle cells and reversal by a prostaglandin F2 alpha analogue

scientific article published on 07 February 2020

Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study

scientific article

The Clinical Outcome Study for dysferlinopathy: An international multicenter study

scientific article published on 04 August 2016

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

scientific article

Undetected Neuromuscular Disease in Patients after Heart Transplantation

scientific article published in 2024

mRNA-mediated delivery of gene editing tools to human primary muscle stem cells

scientific article published on 28 February 2022

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