Steven H. Laval

Biochemistry, Genetics and Molecular Biology · Life Sciences

31h-index3.2kcitations88works0.02yr avg
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Research Topics

Muscle Physiology and Disorders(24), Rheumatoid Arthritis Research and Therapies(10), Cardiomyopathy and Myosin Studies(7), Spondyloarthritis Studies and Treatments(6), Myasthenia Gravis and Thymoma(6)

Publications85 total

NHE1 inhibition as a potential therapy to attenuate DMD pathology
Neuromuscular Disorders·2017
Reversing mdx cardiomyocyte hypertrophy in vitro
Neuromuscular Disorders·2016
Identification of mutations in the<i>MYO9A</i>gene in patients with congenital myasthenic syndrome
Brain·2016· 57 citedOpen Access
Autologous skeletal muscle derived cells expressing a novel functional dystrophin provide a potential therapy for Duchenne Muscular Dystrophy
Scientific Reports·2016· 31 citedOpen Access
Development and Application of an Ultrasensitive Hybridization-Based ELISA Method for the Determination of Peptide-Conjugated Phosphorodiamidate Morpholino Oligonucleotides
Nucleic Acid Therapeutics·2015· 57 citedOpen Access
Absence of Cardiac Benefit with Early Combination ACE Inhibitor and Beta Blocker Treatment in mdx Mice
Journal of Cardiovascular Translational Research·2015· 12 cited
Cardiomyocyte Regeneration in the <i>mdx</i> Mouse Model of Nonischemic Cardiomyopathy
Stem Cells and Development·2015· 26 citedOpen Access
Dystrophin quantification
Neurology·2014· 85 citedOpen Access
Assessment of ventricular function in mouse models of muscular dystrophy: A comparison of MRI with conductance catheter
Neuromuscular Disorders·2014· 2 cited
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy
Brain·2014· 100 citedOpen Access
O02 Optidystrophin in DMD stem cells
Neuromuscular Disorders·2014
P41 Investigating the effect of AGRN mutations on acetylcholine receptor (AChR) clustering in vitro
Neuromuscular Disorders·2014
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission
Journal of Neuromuscular Diseases·2014· 90 citedOpen Access
O.1 Collagen XII as a new disease gene for Bethlem-like myopathy
Neuromuscular Disorders·2013
P.1.6 Investigating collagen VI biosynthesis and assembly in the context of ALG2 impairment in Ullrich/CMS-like family
Neuromuscular Disorders·2013
Exon Skipping and Gene Transfer Restore Dystrophin Expression in Human Induced Pluripotent Stem Cells-Cardiomyocytes Harboring <i>DMD</i> Mutations
Stem Cells and Development·2013· 61 citedOpen Access
Muscular dystrophy in dysferlin-deficient mouse models
Neuromuscular Disorders·2013· 40 cited
Congenital myasthenic syndromes due to mutations in<i>ALG2</i>and<i>ALG14</i>
Brain·2013· 133 citedOpen Access
Caveolar proteins: putative FSHD biomarkers?
2013
Investigating collagen VI biosynthesis and assembly in the context of deficient ALG2; a novel gene identified in a CMS family originally diagnosed with Ullrich’s CMD.
2013
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Frequent Co-authors

Hanns Lochmüller(13), Volker Straub(12), Kate Bushby(12), Yvonne Boyd(9), J. Loftus(5), Antonio Vita(5), Matthew A. Brown(5), Helen J. Blair(5), R. Williamson(5), Angela Smith(4), Romain Guyon(4), B P Wordsworth(4), Juliane Müller(4), Angela Abicht(4), Lynn E. DeLisi(3), Andrew E. Timms(3), Sinéad Brophy(3), Jan Senderek(3), C. Jimenez‐Mallebrera(3), Maja von der Hagen(3)