Luca Lombardi
Naples, Italy
Last Updated: 09/26/2026
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Found 8 publications
Novel autophagic vacuolar myopathies: Phenotype and genotype features.
Journal: Neuropathology and applied neurobiology
Published: May 26, 2020
Successful long-term therapy with flecainide in a family with paramyotonia congenita.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: November 08, 2017
Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy.
Journal: Journal of cellular physiology
Published: October 17, 2017
Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix.
Journal: Journal of medical genetics
Published: January 24, 2017
First study on the peptidergic innervation of the brain superior sagittal sinus in humans.
Journal: Neuropeptides
Published: October 13, 2016
Symptomatic Heterozygosity due to Definite GAA Mutations in Late-Onset Pompe Disease.
Journal: Journal of neuromuscular diseases
Published: January 01, 2015
A Unique Myopathy Syndrome in a Patient Disclosing Clinical, Laboratory, and Genetic Findings of Late-Onset Pompe Disease, Together with a Lack of Dysferlin on Muscle Biopsy.
Journal: Journal of neuromuscular diseases
Published: January 01, 2015
A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease.
Journal: Neuromuscular disorders : NMD
Published: July 31, 2014
Showing 1-8 of 8
Last Updated: 09/26/2026