Claudio Catalli

Claudio Catalli

IKERBASQUE. Basque Foundation for Science - Bilbao / Spain
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 4963383
Ikerbasque. Basque Foundation for Science
person_outline Claudio Catalli's MOST POPULAR ARTICLES
1-) Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2EJ Kamsteeg, W Kress, C Catalli, JM Hertz, M Witsch-Baumgartner, ...European Journal of Human Genetics 20 (12), 1203-1208, 20121792012
2-) Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implicationsI Perea-Romero, G Gordo, IF Iancu, M Del Pozo-Valero, B Almoguera, ...Scientific Reports 11 (1), 1526, 2021942021
3-) Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathyLR Lopes, S Garcia-Hernández, M Lorenzini, M Futema, O Chumakova, ...European heart journal 42 (32), 3063-3073, 2021602021
4-) The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patientsA Botta, F Rinaldi, C Catalli, L Vergani, E Bonifazi, V Romeo, E Loro, ...Journal of medical genetics 45 (10), 639-646, 2008612008
5-) Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2)C Catalli, A Morgante, R Iraci, F Rinaldi, A Botta, G NovelliThe Journal of Molecular Diagnostics 12 (5), 601-606, 2010322010