Loredana Boccone
Azienda Ospedaliera G. Brotzu(IT)
Publications by Year
Research Areas
Mitochondrial Function and Pathology, Genetic Neurodegenerative Diseases, Genomic variations and chromosomal abnormalities, Muscle Physiology and Disorders, Cardiomyopathy and Myosin Studies
Most-Cited Works
- → Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome(2006)401 cited
- → ELOVL5 Mutations Cause Spinocerebellar Ataxia 38(2014)118 cited
- → Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort ofKabuki Syndrome Patients(2014)103 cited
- → Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis(2008)103 cited
- → A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome(2012)99 cited
- → Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families(1998)65 cited
- → Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study(2019)47 cited
- → Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area(2008)44 cited
- → Allan–Herndon–Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH(2010)41 cited
- → Bannayan–Riley–Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation(2006)39 cited