Concepedia

Claudio Catalli

CC

4

Publications

341

Citations

4

H-Index

2008

Active since

Affiliations

University of Rome Tor Vergata(Current)

Aarhus University Hospital

Claudio Catalli is an author at University of Rome Tor Vergata specializing in pathology, medicine, and diagnosis.

ORCID

Top concepts

Publications per year

2008–2021

4

Publications

4

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

Erik‐Jan Kamsteeg, Claudio Catalli, Jens Michael Hertz et al. · European Journal of Human Genetics · 2012 · 160 citations · Full text

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Alpha-protein kinase 3 (<i>ALPK3</i>) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy

Luís R. Lopes, Soledad García-Hernández, Massimiliano Lorenzini et al. · European Heart Journal · 2021 · 97 citations · Full text

The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients

Annalisa Botta, Fabrizio Rinaldi, Claudio Catalli et al. · Journal of Medical Genetics · 2008 · 57 citations

Validation of Sensitivity and Specificity of Tetraplet-Primed PCR (TP-PCR) in the Molecular Diagnosis of Myotonic Dystrophy Type 2 (DM2)

Claudio Catalli, Alessandra Morgante, Raniero Iraci et al. · Journal of Molecular Diagnostics · 2010 · 27 citations · Full text

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