Loredana Boccone

1.4k total citations
21 papers, 779 citations indexed

About

Loredana Boccone is a scholar working on Molecular Biology, Genetics and Cellular and Molecular Neuroscience. According to data from OpenAlex, Loredana Boccone has authored 21 papers receiving a total of 779 indexed citations (citations by other indexed papers that have themselves been cited), including 16 papers in Molecular Biology, 10 papers in Genetics and 4 papers in Cellular and Molecular Neuroscience. Recurrent topics in Loredana Boccone's work include Mitochondrial Function and Pathology (5 papers), Genomic variations and chromosomal abnormalities (4 papers) and Genetic Neurodegenerative Diseases (4 papers). Loredana Boccone is often cited by papers focused on Mitochondrial Function and Pathology (5 papers), Genomic variations and chromosomal abnormalities (4 papers) and Genetic Neurodegenerative Diseases (4 papers). Loredana Boccone collaborates with scholars based in Italy, United Kingdom and United States. Loredana Boccone's co-authors include Bruno Dallapiccola, Enrico Bertini, Antonio Cao, Antonella Meloni, Carrie M Louie, Jennifer L. Silhavy, Emanuele Bellacchio, Lihadh Al‐Gazali, Giuseppe Barrano and Eugen Boltshauser and has published in prestigious journals such as Nature Genetics, Annals of Neurology and The American Journal of Human Genetics.

In The Last Decade

Loredana Boccone

21 papers receiving 766 citations

Peers

Loredana Boccone

GENET

CMN

PPCH

Lysanne Patry Canada

Claudia Dafinger Germany

Hannelore Thiele Germany

Sérgio B. Sousa Portugal

Irene Stolte‐Dijkstra Netherlands

Hanna Mierzewska Poland

Sabina Barresi Italy

Sonia Ciarmatori Germany

Klaus-Armin Nave Germany

Rosangela Ferese Italy

Lysanne Patry Canada

Loredana Boccone

671 ×1.2

480 ×1.0

GENET

138 ×1.4

CMN

91 ×0.9

66 ×0.8

PPCH

Citations per year, relative to Loredana Boccone Loredana Boccone (= 1×) peers Lysanne Patry

Countries citing papers authored by Loredana Boccone

Since Specialization

Citations

This map shows the geographic impact of Loredana Boccone's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Loredana Boccone with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Loredana Boccone more than expected).

Fields of papers citing papers by Loredana Boccone

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Loredana Boccone. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Loredana Boccone. The network helps show where Loredana Boccone may publish in the future.

Co-authorship network of co-authors of Loredana Boccone

This figure shows the co-authorship network connecting the top 25 collaborators of Loredana Boccone. A scholar is included among the top collaborators of Loredana Boccone based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Loredana Boccone. Loredana Boccone is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

Sort: Min cites: Since: Top N: Style:

20 of 20 papers shown

Rodolico, Carmelo, Luisa Politano, Simona Portaro, et al.. (2020). Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy. European Journal of Paediatric Neurology. 27. 25–29. 1 indexed citations

Manes, Marta, Antonella Alberici, Eleonora Di Gregorio, et al.. (2019). Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study. Parkinsonism & Related Disorders. 63. 191–194. 16 indexed citations

Manara, Elena, Stefano Paolacci, Fabiana D’Esposito, et al.. (2019). Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study. The Italian Journal of Pediatrics/Italian journal of pediatrics. 45(1). 72–72. 29 indexed citations

Manes, Marta, Antonella Alberici, Eleonora Di Gregorio, et al.. (2017). Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38. Annals of Neurology. 82(4). 615–621. 24 indexed citations

Cossu, Carla, et al.. (2016). New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy. Clinica Chimica Acta. 455. 172–180. 13 indexed citations

Borroni, Barbara, Eleonora Di Gregorio, Laura Orsi, et al.. (2016). Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38). Parkinsonism & Related Disorders. 28. 80–86. 27 indexed citations

Tonduti, Davide, Chiara Aiello, Florence Renaldo, et al.. (2015). TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients. European Journal of Paediatric Neurology. 20(2). 323–330. 24 indexed citations

Boccone, Loredana, et al.. (2013). Allan–Herndon–Dudley syndrome (AHDS) in two consecutive generations caused by a missense MCT8 gene mutation. Phenotypic variability with the presence of normal serum T3 levels. European Journal of Medical Genetics. 56(4). 207–210. 24 indexed citations

Cau, Milena, Loredana Boccone, Anna Mateddu, et al.. (2012). A new deletion in 5′-end of dystrophin gene removing M and P promoters and dystrophin muscle enhancers. Gene. 511(2). 437–440. 1 indexed citations

10.

Caputo, Viviana, L Cianetti, Marcello Niceta, et al.. (2012). A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome. The American Journal of Human Genetics. 90(1). 161–169. 77 indexed citations

11.

Boccone, Loredana, et al.. (2010). Allan–Herndon–Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH. European Journal of Medical Genetics. 53(6). 392–395. 33 indexed citations

12.

Veneziano, Liana, Serena Guida, Elide Mantuano, et al.. (2008). Newly characterised 5′ and 3′ regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia. Journal of the Neurological Sciences. 276(1-2). 31–37. 11 indexed citations

13.

Rassu, Stefania, et al.. (2008). Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area. European Journal of Human Genetics. 16(6). 696–704. 29 indexed citations

14.

Hermanns, Pia, Sheila Unger, Antonio Rossi, et al.. (2008). Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis. The American Journal of Human Genetics. 82(6). 1368–1374. 58 indexed citations

15.

Boccone, Loredana, et al.. (2007). Bannayan–Riley–Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation. American Journal of Medical Genetics Part A. 146A(2). 257–260. 4 indexed citations

16.

Valente, Enza Maria, Jennifer L. Silhavy, Francesco Brancati, et al.. (2006). Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nature Genetics. 38(6). 623–625. 291 indexed citations

17.

Melis, MA, M. Cau, Francesco Muntoni, et al.. (1998). Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families. European Journal of Paediatric Neurology. 2(5). 255–261. 56 indexed citations

18.

Melis, Maria Antonietta, Francesco Muntoni, Milena Cau, et al.. (1998). Novel nonsense mutation (C→A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy. Human Mutation. 11(S1). S137–S138. 23 indexed citations

19.

Meloni, Alessandra, Loredana Boccone, Luca Angius, et al.. (1994). Hypothalamic growth hormone deficiency in a patient with ring chromosome 18. European Journal of Pediatrics. 153(2). 110–112. 15 indexed citations

20.

Boccone, Loredana, et al.. (1994). Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)]. American Journal of Medical Genetics. 51(3). 258–259. 22 indexed citations

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

Explore authors with similar magnitude of impact