Nicola Brunetti-Pierri
Nicola Brunetti-Pierri
Federico II University
Dirección de correo verificada de - Página principal
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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif, A Abdoli, S Abel, ...
autophagy 17 (1), 1-382, 2021
Discovery of drug mode of action and drug repositioning from transcriptional responses
F Iorio, R Bosotti, E Scacheri, V Belcastro, P Mithbaokar, R Ferriero, ...
Proceedings of the National Academy of Sciences 107 (33), 14621-14626, 2010
Recurrent reciprocal 1q21. 1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
N Brunetti-Pierri, JS Berg, F Scaglia, J Belmont, CA Bacino, T Sahoo, ...
Nature genetics 40 (12), 1466-1471, 2008
Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition
A Luciani, VR Villella, S Esposito, N Brunetti-Pierri, D Medina, ...
Nature cell biology 12 (9), 863-875, 2010
GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects
N Brunetti-Pierri, F Scaglia
Molecular genetics and metabolism 94 (4), 391-396, 2008
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
LJC Wong, RK Naviaux, N Brunetti‐Pierri, Q Zhang, ES Schmitt, C Truong, ...
Human mutation 29 (9), E150-E172, 2008
Acute toxicity after high-dose systemic injection of helper-dependent adenoviral vectors into nonhuman primates
N Brunetti-Pierri, DJ Palmer, AL Beaudet, KD Carey, M Finegold, P Ng
Human gene therapy 15 (1), 35-46, 2004
RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation
N Revencu, LM Boon, A Mendola, MR Cordisco, J Dubois, P Clapuyt, ...
Human mutation 34 (12), 1632-1641, 2013
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11. 23 Williams-Beuren syndrome region
JS Berg, N Brunetti-Pierri, SU Peters, SHL Kang, CT Fong, J Salamone, ...
Genetics in Medicine 9 (7), 427-441, 2007
Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis
EV Polishchuk, M Concilli, S Iacobacci, G Chesi, N Pastore, P Piccolo, ...
Developmental cell 29 (6), 686-700, 2014
Copy number variants at Williams–Beuren syndrome 7q11. 23 region
G Merla, N Brunetti-Pierri, L Micale, C Fusco
Human genetics 128, 3-26, 2010
Toll-like receptor 9 triggers an innate immune response to helper-dependent adenoviral vectors
V Cerullo, MP Seiler, V Mane, N Brunetti-Pierri, C Clarke, TK Bertin, ...
Molecular Therapy 15 (2), 378-385, 2007
Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha‐1‐anti‐trypsin deficiency
N Pastore, K Blomenkamp, F Annunziata, P Piccolo, P Mithbaokar, ...
EMBO molecular medicine 5 (3), 397-412, 2013
Inborn errors of metabolism: the flux from Mendelian to complex diseases
B Lanpher, N Brunetti-Pierri, B Lee
Nature Reviews Genetics 7 (6), 449-459, 2006
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
T Wang, K Hoekzema, D Vecchio, H Wu, A Sulovari, BP Coe, ...
Nature communications 11 (1), 4932, 2020
DUF1220-domain copy number implicated in human brain-size pathology and evolution
LJ Dumas, MS O’Bleness, JM Davis, CM Dickens, N Anderson, ...
The American Journal of Human Genetics 91 (3), 444-454, 2012
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects
CMR Weemaes, MJ Van Tol, J Wang, MM van Ostaijen-Ten Dam, ...
European Journal of Human Genetics 21 (11), 1219-1225, 2013
Generalized metabolic bone disease in Neurofibromatosis type I
N Brunetti-Pierri, SB Doty, J Hicks, K Phan, R Mendoza-Londono, M Blazo, ...
Molecular genetics and metabolism 94 (1), 105-111, 2008
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3β-hydroxysteroid-Δ5-desaturase
N Brunetti-Pierri, G Corso, M Rossi, P Ferrari, F Balli, F Rivasi, ...
The American Journal of Human Genetics 71 (4), 952-958, 2002
Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy
LJC Wong, N Brunetti‐Pierri, Q Zhang, N Yazigi, KE Bove, BB Dahms, ...
Hepatology 46 (4), 1218-1227, 2007
El sistema no puede realizar la operación en estos momentos. Inténtalo de nuevo más tarde.
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