| Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2 EJ Kamsteeg, W Kress, C Catalli, JM Hertz, M Witsch-Baumgartner, ... European Journal of Human Genetics 20 (12), 1203-1208, 2012 | 175 | 2012 |
| Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications I Perea-Romero, G Gordo, IF Iancu, M Del Pozo-Valero, B Almoguera, ... Scientific Reports 11 (1), 1526, 2021 | 86 | 2021 |
| The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients A Botta, F Rinaldi, C Catalli, L Vergani, E Bonifazi, V Romeo, E Loro, ... Journal of medical genetics 45 (10), 639-646, 2008 | 58 | 2008 |
| Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy LR Lopes, S Garcia-Hernández, M Lorenzini, M Futema, O Chumakova, ... European heart journal 42 (32), 3063-3073, 2021 | 57 | 2021 |
| 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 Novelli The Journal of Molecular Diagnostics 12 (5), 601-606, 2010 | 27 | 2010 |
| Non-Ceruloplasmin Copper Identifies a Subtype of Alzheimer’s Disease (CuAD): Characterization of the Cognitive Profile and Case of a CuAD Patient Carrying an RGS7 Stop-Loss Variant R Squitti, C Catalli, L Gigante, M Marianetti, M Rosari, S Mariani, ... International Journal of Molecular Sciences 24 (7), 6377, 2023 | 8 | 2023 |
| A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation L Veneziano, E Mantuano, C Catalli, C Gellera, A Durr, S Romano, ... Journal of human genetics 59 (3), 153-157, 2014 | 7 | 2014 |
| Neuropsychological Profile of Hereditary Ataxias: Study of 38 Patients M García, I Rouco-Axpe, I Amayra, A Rodríguez-Antigüedad, C Catalli, ... Archives of Clinical Neuropsychology, 2022 | 3 | 2022 |
| Mutations in MME gene causing distal hereditary motor neuropathy and MCI-AD AB Toca, AM Arroyo, AR Sainz, JA Martínez, IS Zárraga, IA Calle, ... Journal of the Neurological Sciences 429, 118990, 2021 | 1 | 2021 |
| Selective Pseudohypertrophy of Vastus Medialis Muscles Associated With Calpain 3 Deficiency G Vattemi, M Neri, M Marini, F Gualandi, P Tonin, L Bertolasi, V Guglielmi, ... The Neurologist 18 (5), 306-309, 2012 | 1 | 2012 |
| Analysis of Single Nucleotide Polymorphisms (SNPs) of the small-conductance calcium activated potassium channel (SK3) gene as genetic modifier of the cardiac phenotype in … F Rinaldi, A Botta, L Vallo, G Contino, A Morgante, R Iraci, C Catalli, ... Acta Myologica 27 (3), 82, 2008 | 1 | 2008 |
| VP. 88 Characterisation of cell culture models of myotonic dystrophy type I by In-Cell Western technology and digital droplet PCR A López-Martínez, P Soblechero-Martín, C Catalli, A Jauregui-Barrutia, ... Neuromuscular Disorders 32, S132-S133, 2022 | | 2022 |
| Homozygous frameshift mutation in CHDH associated with adult-onset Spastic Ataxia C Catalli, H Maortua Olabe, M Gonzalez Bouzas, L Garcia Naveda, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 383-384, 2020 | | 2020 |
| A novel mutation of RASA1 in capillary malformation-arteriovenous malformation syndrome in a case with spinal cord involvement A Moreno-Estébanez, JML Domingo, C Catalli, TGP González, ... Clinical neurology and neurosurgery 195, 105965, 2020 | | 2020 |
Giuseppe NovelliProfessore di Genetica Medica, Università di Roma Tor VergataVerified email at med.uniroma2.it
