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Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

article

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

artículo científico publicado en 2015

Complex multisystem phenotype associated with the mitochondrial DNA m.5522G>A mutation

scientific article published on 01 April 2019

Congenital myopathies: clinical phenotypes and new diagnostic tools

artículo científico publicado en 2017

Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report

artículo científico publicado en 2016

Next-generation sequencing approach to hyperCKemia: A 2-year cohort study

scientific article published on 16 August 2019

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

artículo científico publicado en 2009

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity

artículo científico publicado en 2006

Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene

artículo científico publicado en 2012

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