Giuseppina Di Fruscio

Naples, Italy

Last Updated: 09/26/2026

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Found 18 publications

KRAS Mutational Regression Is Associated With Oligo-Metastatic Status and Good Prognosis in Metastatic Colorectal Cancer.

KRAS Mutational Regression Is Associated With Oligo-Metastatic Status and Good Prognosis in Metastatic Colorectal Cancer.

Journal: Frontiers in oncology

Published: November 24, 2020

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

Journal: JAMA neurology

Published: February 13, 2018

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

Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies.

Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies.

Journal: Genes

Published: June 29, 2017

Next-Generation Sequencing Approaches to Define the Role of the Autophagy Lysosomal Pathway in Human Disease: The Example of LysoPlex.

Next-Generation Sequencing Approaches to Define the Role of the Autophagy Lysosomal Pathway in Human Disease: The Example of LysoPlex.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: May 01, 2017

Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy.

Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy.

Journal: European journal of human genetics : EJHG

Published: August 25, 2016

Clinical, biochemical and molecular characterization of prosaposin deficiency.

Clinical, biochemical and molecular characterization of prosaposin deficiency.

Journal: Clinical genetics

Published: December 18, 2015

Next Generation Sequencing and ADPKD

Next Generation Sequencing and ADPKD

Journal: Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia

Published: December 01, 2015

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.

Journal: Neurology

Published: September 29, 2015

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

Journal: Autophagy

Published: June 16, 2015

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

Journal: Neuromuscular disorders : NMD

Published: February 02, 2015

Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?

Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?

Journal: European journal of human genetics : EJHG

Published: September 15, 2014

Showing 1-12 of 18

Last Updated: 09/26/2026