Flavia Blasevich

Milan, Italy

Last Updated: 09/26/2026

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Found 18 publications

PLIN4-related myopathy: clinical, histological and imaging data in a large cohort of patients.

PLIN4-related myopathy: clinical, histological and imaging data in a large cohort of patients.

Journal: Journal of neurology

Published: March 06, 2023

VCP-related myopathy: a case series and a review of literature.

VCP-related myopathy: a case series and a review of literature.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

Published: January 11, 2023

Molecular Fingerprint of BMD Patients Lacking a Portion in the Rod Domain of Dystrophin.

Molecular Fingerprint of BMD Patients Lacking a Portion in the Rod Domain of Dystrophin.

Journal: International journal of molecular sciences

Published: January 31, 2022

Extracellular Vesicles Derived from Mesenchymal Stromal Cells Delivered during Hypothermic Oxygenated Machine Perfusion Repair Ischemic/Reperfusion Damage of Kidneys from Extended Criteria Donors.

Extracellular Vesicles Derived from Mesenchymal Stromal Cells Delivered during Hypothermic Oxygenated Machine Perfusion Repair Ischemic/Reperfusion Damage of Kidneys from Extended Criteria Donors.

Journal: Biology

Published: January 20, 2022

Therapeutic efficacy of 3,4-Diaminopyridine phosphate on neuromuscular junction in Pompe disease.

Therapeutic efficacy of 3,4-Diaminopyridine phosphate on neuromuscular junction in Pompe disease.

Journal: Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie

Published: December 04, 2020

Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease.

Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease.

Journal: Acta neuropathologica

Published: March 31, 2020

Glycogen storage in a zebrafish Pompe disease model is reduced by 3-BrPA treatment.

Glycogen storage in a zebrafish Pompe disease model is reduced by 3-BrPA treatment.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: October 23, 2019

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

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

Journal: Acta neuropathologica communications

Published: November 11, 2018

Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene.

Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene.

Journal: Mitochondrion

Published: June 18, 2018

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

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

Journal: Matrix biology : journal of the International Society for Matrix Biology

Published: March 05, 2018

Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene.

Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene.

Journal: Molecular genetics and metabolism reports

Published: October 19, 2016

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.

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.

Journal: Neuromuscular disorders : NMD

Published: July 12, 2016

Showing 1-12 of 18

Last Updated: 09/26/2026