List of works - Sara Gibertini

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 mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy

scientific article published on 17 January 2019

A rare mutation in MYH7 gene occurs with overlapping phenotype

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

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

Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI

scientific article published on 10 April 2019

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

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

scientific article published on 12 February 2018

Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.

scientific article

Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient

scientific article published on 19 December 2018

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

scientific article published on 07 July 2016

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

Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy

scientific article published on 15 December 2019

List of works by Sara Gibertini