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List of works by Elena Pegoraro

24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy

scientific article (publication date: 2013)

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

scientific article published on 10 May 2015

Cored in the act: the use of models to understand core myopathies

scientific article published on 19 December 2019

Genetic modifiers of respiratory function in Duchenne muscular dystrophy

scientific article published on 28 April 2020

Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

scientific article published in 2022

Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy

scientific article

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

scientific article published on 12 February 2018

LMNA-associated myopathies: the Italian experience in a large cohort of patients.

scientific article published on October 2014

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

article

North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy

scientific article published on 14 July 2010

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

article

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

scientific article published on 08 June 2016

X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant

scientific article published on 01 February 1996

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