Carlo Minetti
Università degli Studi di Genova
172 papers found
Refreshing results…
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease
UploadInterpreting Genetic Variants in Titin in Patients With Muscle Disorders
UploadClinical and molecular consequences of exon 78 deletion in DMD gene
Download from www.nature.comDetection of early nocturnal hypoventilation in neuromuscular disorders
Download from journals.sagepub.comNovel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities
Download from doi.orgRevisiting mitochondrial ocular myopathies: a study from the Italian Network
UploadMutations in GMPPB Presenting with Pseudometabolic Myopathy
Download from europepmc.orgThe ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy
Download from www.nature.comMissing publications? Search for publications with a matching author name.