Nicola Brunetti-Pierri
University of Naples Federico II
276 Papers
936 Citations
Nicola Brunetti-Pierri is an academic researcher from University of Naples Federico II. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 45, co-authored 228 publications. Previous affiliations of Nicola Brunetti-Pierri include Institute for High Performance Computing and Networking, CNR & Baylor College of Medicine.
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Papers
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
Nicola Brunetti-Pierri,Jonathan S. Berg,Fernando Scaglia,John W. Belmont,Carlos A. Bacino,Trilochan Sahoo,Seema R. Lalani,Brett H. Graham,Brendan Lee,Marwan Shinawi,Joseph J. Shen,Sung Hae L. Kang,Amber Pursley,Timothy Lotze,Gail L. Kennedy,Susan Lansky-Shafer,Christine Weaver,Elizabeth Roeder,Theresa A. Grebe,Georgianne L. Arnold,Terry Hutchison,Tyler Reimschisel,Stephen Amato,Michael T. Geragthy,Jeffrey W. Innis,Ewa Obersztyn,Beata Nowakowska,Sally Rosengren,Patricia I. Bader,Dorothy K. Grange,Sayed Naqvi,Adolfo D. Garnica,Saunder Bernes,Chin-To Fong,Anne M. Summers,W. David Walters,James R. Lupski,Pawel Stankiewicz,Sau Wai Cheung,Ankita Patel +39 more
TL;DR: It is proposed that recurrent reciprocal microdeletions and microduplications within 1q21.1 represent previously unknown genomic disorders characterized by abnormal head size along with a spectrum of developmental delay, neuropsychiatric abnormalities, dysmorphic features and congenital anomalies.
615
Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition
Alessandro Luciani,Valeria Rachela Villella,Speranza Esposito,Nicola Brunetti-Pierri,Diego L. Medina,Carmine Settembre,Manuela Gavina,Laura Pulze,Ida Giardino,Massimo Pettoello-Mantovani,Maria D'Apolito,Stefano Guido,Eliezer Masliah,Brian Spencer,Sonia Quaratino,Valeria Raia,Andrea Ballabio,Luigi Maiuri,Luigi Maiuri +18 more
TL;DR: It is shown how the defective CFTR results in defective autophagy and decreases the clearance of aggresomes, leading to the accumulation of protein aggregates and to lung inflammation.
476
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
Lee-Jun C. Wong,Robert K. Naviaux,Nicola Brunetti-Pierri,Qing Zhang,Eric S. Schmitt,Cavatina K. Truong,Margherita Milone,Bruce H. Cohen,Beverly Wical,Jaya Ganesh,Alice Basinger,Barbara K. Burton,Kathryn J. Swoboda,Donald L. Gilbert,Adeline Vanderver,Russell P. Saneto,Bruno Maranda,Georgianne L. Arnold,Jose E. Abdenur,Paula J. Waters,William C. Copeland +20 more
TL;DR: In this article, the exons and flanking intron region from approximately 350 patients displaying a phenotype consistent with inherited mitochondrial disease and found informative mutations in 61 (17%) of them.
294
GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.
TL;DR: An overview of the clinical and molecular findings in patients with GM(1) gangliosidosis is given and therapeutic approaches which are currently under investigation in animal models of the disease are described.
279
RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation
Nicole Revencu,Laurence M. Boon,Antonella Mendola,Maria R. Cordisco,Josée Dubois,Philippe Clapuyt,Frank Hammer,David J. Amor,Alan D. Irvine,Eulalia Baselga,Anne Dompmartin,S. Syed,Ana Martín-Santiago,Lesley C. Adès,Felicity Collins,Janine Smith,Sarah A. Sandaradura,Victoria R. Barrio,Patricia E. Burrows,Francine Blei,Mariarosaria Cozzolino,Nicola Brunetti-Pierri,Asunción Vicente,Marc Abramowicz,Julie Désir,Catheline Vilain,Wendy K. Chung,Ashley Wilson,Carol A. Gardiner,Yim Dwight,David J.E. Lord,Leona Fishman,Cheryl Cytrynbaum,Sarah L. Chamlin,Fred Ghali,Yolanda Gilaberte,Shelagh Joss,María del Carmen Boente,Christine Léauté-Labrèze,Marie Ange Delrue,Susan J. Bayliss,Loreto Martorell,María Antonia González-Enseñat,Juliette Mazereeuw-Hautier,Brid O'Donnell,Didier Bessis,Reed E. Pyeritz,Aicha Salhi,Oon T. Tan,Orli Wargon,John B. Mulliken,Miikka Vikkula +51 more
TL;DR: In conclusion, mutations in RASA1 underscore the specific CM–AVM phenotype and the clinical diagnosis is based on identifying the characteristic CMs, and the high incidence of fast‐flow lesions warrants careful clinical and radiologic examination, and regular follow‐up.
260