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List of works by Simona Saredi

A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release

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 novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family.

scientific article published on 10 September 2014

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

scientific article

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

scientific article published on 07 March 2010

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

scientific article published on 25 July 2015

Congenital muscular dystrophies with cognitive impairment. A population study.

scientific article published in September 2010

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

scientific article (publication date: 26 May 2009)

DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies

scientific article

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).

scientific article published on 2 June 2017

Familial adult-onset Pompe disease associated with unusual clinical and histological features

scientific article published on October 2013

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

scientific article

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

scientific article

POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.

scientific article published on 2 June 2008

Protein O-mannosylation is crucial for human mesencyhmal stem cells fate.

scientific article published on 6 August 2015

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