Olimpia Farina

Naples, Italy

Last Updated: 09/26/2026

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Found 9 publications

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.

Journal: Neuromuscular disorders : NMD

Published: December 04, 2017

Successful long-term therapy with flecainide in a family with paramyotonia congenita.

Successful long-term therapy with flecainide in a family with paramyotonia congenita.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: November 08, 2017

Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation.

Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation.

Journal: Clinical genetics

Published: October 19, 2017

Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy.

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.

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

Symptomatic Heterozygosity due to Definite GAA Mutations in Late-Onset Pompe Disease.

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.

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

Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.

Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.

Journal: Orphanet journal of rare diseases

Published: July 04, 2013

Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy.

Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy.

Journal: Orphanet journal of rare diseases

Published: April 05, 2013

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Last Updated: 09/26/2026