Lucia O. Morandi

Milan, Italy

Last Updated: 09/26/2026

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Found 77 publications

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

SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples.

SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples.

Journal: eLife

Published: March 03, 2021

Corrigendum to: "Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression". [Biochim. Biophys. Acta Gene Regul. Mech. 2017 Nov;1860(11):1138-1147.].

Corrigendum to: "Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression". [Biochim. Biophys. Acta Gene Regul. Mech. 2017 Nov;1860(11):1138-1147.].

Journal: Biochimica et biophysica acta. Gene regulatory mechanisms

Published: November 04, 2020

Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients.

Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients.

Journal: Frontiers in neurology

Published: December 23, 2019

A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy.

A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy.

Journal: Genes & diseases

Published: June 20, 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

Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol.

Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol.

Journal: Journal of medical genetics

Published: May 11, 2018

Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes.

Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes.

Journal: Nucleus (Austin, Tex.)

Published: April 26, 2018

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

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

Journal: Toxicology in vitro : an international journal published in association with BIBRA

Published: September 26, 2017

Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression.

Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression.

Journal: Biochimica et biophysica acta. Gene regulatory mechanisms

Published: May 09, 2017

A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial.

A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial.

Journal: Trials

Published: April 06, 2017

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

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

Journal: Neuropathology and applied neurobiology

Published: March 17, 2017

Showing 1-12 of 77

Last Updated: 09/26/2026