E. Martoni

University of Ferrara — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

12h-index763citations35works0.02yr avg
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Research Topics

Muscle Physiology and Disorders(23), Cell Adhesion Molecules Research(13), Cellular Mechanics and Interactions(7), RNA Research and Splicing(7), RNA modifications and cancer(4)

Publications35 total

Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy
Journal of Cell Science·2016· 25 citedOpen Access
Whole transcriptome expression profiling in collagen VI myopathies KO mice reveals muscle-specific fingerprints and arises the role of circadian clock genes as myopathy biomarkers
Institutional Research Information System University of Ferrara (University of Ferrara)·2014Open Access
P77 Collagen XII; novel disease-causing candidate gene for Bethlem-like patients
Neuromuscular Disorders·2014
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy
Human Molecular Genetics·2013· 105 citedOpen Access
O.1 Collagen XII as a new disease gene for Bethlem-like myopathy
Neuromuscular Disorders·2013
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: a case report
BMC Medical Genetics·2013· 14 citedOpen Access
P79 Identification of novel variants in patients with non-collagen VI Bethlem myopathy by the emerging technology of exomic sequencing
Neuromuscular Disorders·2012
Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis
Matrix Biology·2011· 80 citedOpen Access
P2.7 Collagen VI alpha5 and alpha6 chains expression in human muscle
Neuromuscular Disorders·2011
Macrophages: A minimally invasive tool for monitoring collagen VI myopathies
Muscle & Nerve·2011· 11 citedOpen Access
Expression of the Collagen VI α5 and α6 Chains in Normal Human Skin and in Skin of Patients with Collagen VI-Related Myopathies
Journal of Investigative Dermatology·2010· 90 cited
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies
BMC Medical Genetics·2010· 32 citedOpen Access
Autosomal recessive Bethlem myopathy
Neurology·2009· 69 cited
EM.P.4.03 Extensive sequencing of COL6A genes in a cohort of 65 patients with collagen type VI related myopathies. Focus on splicing mutations causing Ullrich congenital muscular dystrophy
Neuromuscular Disorders·2009
EM.P.5.06 Collagen VI alpha5 chain exhibits a restricted localization at junctions in human skeletal muscle and skin
Neuromuscular Disorders·2009
EM.P.4.07 Autosomal recessive Bethlem myopathy
Neuromuscular Disorders·2009· 1 cited
EM.P.4.09 Immunofluorescence and morphological alterations of capillary wall in skeletal muscle of two myosclerosis myopathy patients
Neuromuscular Disorders·2009
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy
Human Mutation·2009· 41 citedOpen Access
Cationic PMMA Nanoparticles Bind and Deliver Antisense Oligoribonucleotides Allowing Restoration of Dystrophin Expression in the mdx Mouse
Molecular Therapy·2009· 73 citedOpen Access
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies
BMC Genomics·2008· 78 citedOpen Access
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Frequent Co-authors

Francesca Gualandi(28), Alessandra Ferlini(26), Luciano Merlini(21), Patrizia Sabatelli(21), Matteo Bovolenta(18), M. Fabris(16), Paolo Bonaldo(15), Pietro Spitali(11), Paola Rimessi(11), Anna Urciuolo(10), Marcella Neri(10), Stefano Squarzoni(8), Enrico Bertini(8), Paolo Grumati(7), Eugenio Mercuri(7), Cecilia Trabanelli(6), Elena Bassi(6), Hanns Lochmüller(5), Volker Straub(5), Alessandra Zamparelli(5)