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List of works by Simona Zanotti

A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia

scientific article

A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation.

scientific article published on 27 October 2013

A rare mutation in MYH7 gene occurs with overlapping phenotype

article

Altered extracellular matrix transcript expression and protein modulation in primary Duchenne muscular dystrophy myotubes.

scientific article

Altered production of extra-cellular matrix components by muscle-derived Duchenne muscular dystrophy fibroblasts before and after TGF-β1 treatment

scientific article published on 10 November 2009

Anti-fibrotic effect of pirfenidone in muscle derived-fibroblasts from Duchenne muscular dystrophy patients.

scientific article published on 8 December 2015

Botulinum toxin type A affects the transcriptome of cell cultures derived from muscle biopsies of controls and spastic patients

scientific article published on 6 March 2018

Calsequestrin and junctin immunoreactivity in hexagonally cross-linked tubular arrays myopathy

scientific article published on 07 March 2010

Changes of synaptotagmin interaction with t-SNARE proteins in vitro after calcium/calmodulin-dependent phosphorylation.

scientific article published in January 2000

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

scientific article published on 25 July 2015

Decorin and biglycan expression is differentially altered in several muscular dystrophies

scientific article published on 23 September 2005

Exosomes and exosomal miRNAs from muscle-derived fibroblasts promote skeletal muscle fibrosis

scientific article published on 05 July 2018

Fibroblasts from the muscles of Duchenne muscular dystrophy patients are resistant to cell detachment apoptosis

scientific article published on 09 August 2011

Fibrosis and inflammation are greater in muscles of beta-sarcoglycan-null mouse than mdx mouse.

scientific article

Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs

scientific article published on 24 June 2014

LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.

scientific article

Modifications in brain cAMP- and calcium/calmodulin-dependent protein kinases induced by treatment with S-adenosylmethionine.

scientific article published in August 1998

Opposing roles of miR-21 and miR-29 in the progression of fibrosis in Duchenne muscular dystrophy.

scientific article published on 17 April 2015

Osteopontin is highly expressed in severely dystrophic muscle and seems to play a role in muscle regeneration and fibrosis.

scientific article published in December 2011

Proteoglycans are differentially altered in muscular dystrophies.

scientific article published on 4 April 2006

Role of the TFG N-terminus and coiled-coil domain in the transforming activity of the thyroid TRK-T3 oncogene ⬇️

scientific article published on February 12, 1998

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis

scientific article

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