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Authors whose works are in public domain in at least one jurisdiction

List of works by Elena Pegoraro

1-13 of 13 results

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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
24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy

scientific article (publication date: 2013)
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy

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

scientific article published on 08 June 2016
LMNA-associated myopathies: the Italian experience in a large cohort of patients.

scientific article published on October 2014
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
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

scientific article published on 10 May 2015
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

article
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

scientific article published on 12 February 2018
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

article
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

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