Aldo Naselli

Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry

Romain Lévy, Laurence Gérard, J. B. Kuemmerle‐Deschner et al. · Annals of the Rheumatic Diseases · 2014 · 243 citations · Full text

Life Sciences, Molecular Genetics, Neurology +13

Clinical Characteristics of Patients Carrying the Q703K Variant of the <i>NLRP3</i> Gene: A 10-year Multicentric National Study

Aldo Naselli, Federica Penco, Luca Cantarini et al. · The Journal of Rheumatology · 2016 · 34 citations · Full text

Life Sciences, Immunology, Molecular Genetics +15

Long-term follow-up of skeletal dysplasia in thalassaemia major.

Aldo Naselli, M. Vignolo, E. Di Battista et al. · PubMed · 1998 · 30 citations

Medicine, Orthopedic Surgery, Radiology +17

Recurrent Pericarditis in Myhre Syndrome

Paolo Picco, Aldo Naselli, Giovanna Pala et al. · American Journal of Medical Genetics Part A · 2013 · 28 citations

Medicine, Cardiology, Pediatrics +17

Occurrence of multiple aberrantly spliced mRNAs of the LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FHBenevento).

Nicoletta Lelli, Rita Garuti, M. Ghisellini et al. · Journal of Lipid Research · 1995 · 21 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17