Works by Brunetti‐Pierri, Nicola

Results: 114

Peculiar footprints in a child with agenesis of corpus callosum.

Published in:

2021

By:

Cappuccio, Gerarda;
Genesio, Rita;
Pignataro, Piero;
Brunetti‐Pierri, Nicola;
Brunetti-Pierri, Nicola

Publication type:

journal article

An extremely severe phenotype attributed to WDR81 nonsense mutations.

Published in:

2017

By:

Cappuccio, Gerarda;
Pinelli, Michele;
Torella, Annalaura;
Vitiello, Giuseppina;
D'Amico, Alessandra;
Alagia, Marianna;
Del Giudice, Ennio;
Nigro, Vincenzo;
Brunetti‐Pierri, Nicola;
TUDP;
Brunetti-Pierri, Nicola

Publication type:

Letter

Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders.

Published in:

2019

By:

Cappuccio, Gerarda;
Bernardo, Pia;
Raiano, Enza;
Pinelli, Michele;
Alagia, Marianna;
Esposito, Marcello;
Della Casa, Roberto;
Strisciuglio, Pietro;
Brunetti‐Pierri, Nicola;
Bravaccio, Carmela;
Brunetti-Pierri, Nicola

Publication type:

journal article

HPDL Variant Type Correlates With Clinical Disease Onset and Severity.

Published in:

Annals of Clinical & Translational Neurology, 2025, v. 12, n. 7, p. 1360, doi. 10.1002/acn3.70047

By:

Lee, Eun Hye;
Kim‐Mcmanus, Olivia;
Yang, Jennifer H.;
Haas, Richard;
Zaki, Maha S.;
Abdel‐Salam, Ghada M. H.;
Nakamura, Yuji;
Abdel‐Hamind, Mohamed S.;
Ebrahimi‐Fakhari, Darius;
Alecu, Julian E.;
Brunetti‐Pierri, Nicola;
Srinivasan, Varunvenkat M.;
Gowda, Vykuntaraju K.;
Gross, Stephanie;
Alanay, Yasemin;
Najarzadeh Totbati, Paria;
Yadavilli, Manya;
Friedman, Liana;
Ojeda, Naomi Meave;
Gleeson, Joseph G.

Publication type:

Article

Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM<sub>1</sub> gangliosidosis.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 823, doi. 10.1007/s10545-007-0628-5

By:

Brunetti-Pierri, Nicola;
Mian, Asad;
Luetchke, Rebecca;
Graham, Brett

Publication type:

Article

Two familial cases of high blood galactose of unknown aetiology.

Published in:

2006

By:

Brunetti-Pierri, Nicola;
Opekun, Antone;
Craigen, William

Publication type:

Report

Autosomal dominant Ménétrier-like disease.

Published in:

2012

By:

Strisciuglio C;
Corleto VD;
Brunetti-Pierri N;
Piccolo P;
Sangermano R;
Rindi G;
Martini M;
D'Armiento FP;
Staiano A;
Miele E;
Strisciuglio, Caterina;
Corleto, Vito D;
Brunetti-Pierri, Nicola;
Piccolo, Pasquale;
Sangermano, Riccardo;
Rindi, Guido;
Martini, Maurizio;
D'Armiento, Francesco P;
Staiano, Annamaria;
Miele, Erasmo

Publication type:

journal article

Epigenetic Alterations in Inborn Errors of Immunity.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 5, p. 1261, doi. 10.3390/jcm11051261

By:

Romano, Roberta;
Cillo, Francesca;
Moracas, Cristina;
Pignata, Laura;
Nannola, Chiara;
Toriello, Elisabetta;
De Rosa, Antonio;
Cirillo, Emilia;
Coppola, Emma;
Giardino, Giuliana;
Brunetti-Pierri, Nicola;
Riccio, Andrea;
Pignata, Claudio

Publication type:

Article

Expansion of the Phenotype of You‐Hoover‐Fong Syndrome and Possible Increased Risk of Cancer.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63966

By:

De Falco, Alessandro;
De Gregorio, Fabiola;
Abate, Massimo Eraldo;
Paolella, Chiara;
Nigro, Vincenzo;
Scala, Iris;
Brunetti‐Pierri, Nicola

Publication type:

Article

Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63713

By:

Peduto, Cristina;
Cappuccio, Gerarda;
Zeuli, Roberta;
Zanobio, Mariateresa;
Torella, Annalaura;
Alkuraya, Fowzan S.;
Joss, Shelagh;
Daolio, Cecilia;
Spinelli, Alessandro Mauro;
Zampieri, Stefania;
Nigro, Vincenzo;
Brunetti‐Pierri, Nicola

Publication type:

Article

Late‐onset mucopolysaccharidosis type IIIA mimicking Usher syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63517

By:

De Falco, Alessandro;
Karali, Marianthi;
Criscuolo, Chiara;
Testa, Francesco;
Barillari, Maria Rosaria;
Scarpato, Margherita;
Gaudieri, Valeria;
Cuocolo, Alberto;
Russo, Anna;
Nigro, Vincenzo;
Simonelli, Francesca;
Banfi, Sandro;
Brunetti‐Pierri, Nicola

Publication type:

Article

Are SHROOM4 loss‐of‐function variants pathogenic?

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3374, doi. 10.1002/ajmg.a.62935

By:

Peduto, Cristina;
Piluso, Giulio;
Nigro, Vincenzo;
Brunetti‐Pierri, Nicola

Publication type:

Article

Postnatal microcephaly and retinal involvement expand the phenotype of RPL10‐related disorder.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3032, doi. 10.1002/ajmg.a.62911

By:

Cappuccio, Gerarda;
De Bernardi, Margherita Lucia;
Morlando, Alessia;
Peduto, Cristina;
Scala, Iris;
Pinelli, Michele;
Bellacchio, Emanuele;
Gallo, Flavio Gioele;
Magli, Adriano;
Plaitano, Carmen;
Serrano, Mercedes;
Pías, Leticia;
Català, Jaume;
Bolasell, Mercè;
Torella, Annalaura;
Nigro, Vincenzo;
Zanni, Ginevra;
Brunetti‐Pierri, Nicola

Publication type:

Article

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.

Published in:

Epilepsia (Series 4), 2021, v. 62, n. 1, p. e13, doi. 10.1111/epi.16784

By:

Schneider, Amy L.;
Myers, Candace T.;
Muir, Alison M.;
Calvert, Sophie;
Basinger, Alice;
Perry, M. Scott;
Rodan, Lance;
Helbig, Katherine L.;
Chambers, Chelsea;
Gorman, Kathleen M.;
King, Mary D.;
Donkervoort, Sandra;
Soldatos, Ariane;
Bönnemann, Carsten G.;
Spataro, Nino;
Gabau, Elisabeth;
Arellano, Montserrat;
Cappuccio, Gerarda;
Brunetti‐Pierri, Nicola;
Rossignol, Elsa

Publication type:

Article

Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene.

Published in:

2021

By:

Alagia, Marianna;
Bernardo, Pia;
Genesio, Rita;
Gennaro, Elena;
Brunetti-Pierri, Nicola;
Coppola, Antonietta;
Zara, Federico;
Striano, Pasquale;
Striano, Salvatore;
Terrone, Gaetano

Publication type:

Letter

Transcriptional gene network inference from a massive dataset elucidates transcriptome organization and gene function.

Published in:

Nucleic Acids Research, 2011, v. 39, n. 20, p. 8677, doi. 10.1093/nar/gkr593

By:

Belcastro, Vincenzo;
Siciliano, Velia;
Gregoretti, Francesco;
Mithbaokar, Pratibha;
Dharmalingam, Gopuraja;
Berlingieri, Stefania;
Iorio, Francesco;
Oliva, Gennaro;
Polishchuck, Roman;
Brunetti-Pierri, Nicola;
di Bernardo, Diego

Publication type:

Article

POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum.

Published in:

Clinical Genetics, 2023, v. 104, n. 2, p. 186, doi. 10.1111/cge.14353

By:

Rossi, Alessandra;
Blok, Lot Snijders;
Neuser, Sonja;
Klöckner, Chiara;
Platzer, Konrad;
Faivre, Laurence Olivier;
Weigand, Heike;
Dentici, Maria L.;
Tartaglia, Marco;
Niceta, Marcello;
Alfieri, Paolo;
Srivastava, Siddharth;
Coulter, David;
Smith, Lacey;
Vinorum, Kristin;
Cappuccio, Gerarda;
Brunetti‐Pierri, Nicola;
Torun, Deniz;
Arslan, Mutluay;
Lauridsen, Mathilde F.

Publication type:

Article

Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.

Published in:

Clinical Genetics, 2020, v. 98, n. 2, p. 172, doi. 10.1111/cge.13775

By:

Cordeddu, Viviana;
Macke, Erica L.;
Radio, Francesca Clementina;
Lo Cicero, Stefania;
Pantaleoni, Francesca;
Tatti, Massimo;
Bellacchio, Emanuele;
Ciolfi, Andrea;
Agolini, Emanuele;
Bruselles, Alessandro;
Brunetti‐Pierri, Nicola;
Suri, Mohnish;
Josephs, Katherine S.;
McEntagart, Meriel;
Lanpher, Brendan;
Nickels, Katherine C.;
Haworth, Andrea;
Reed, Laura;
Cappuccio, Gerarda;
Mammi, Isabella

Publication type:

Article

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability.

Published in:

Clinical Genetics, 2020, v. 97, n. 6, p. 940, doi. 10.1111/cge.13753

By:

Pinelli, Michele;
Terrone, Gaetano;
Troglio, Flavia;
Squeo, Gabriella Maria;
Cappuccio, Gerarda;
Imperati, Floriana;
Pignataro, Piero;
Genesio, Rita;
Nitch, Lucio;
Del Giudice, Ennio;
Merla, Giuseppe;
Testa, Giuseppe;
Brunetti‐Pierri, Nicola

Publication type:

Article

SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 8, p. 988, doi. 10.1038/ejhg.2013.283

By:

Piccolo, Pasquale;
Mithbaokar, Pratibha;
Sabatino, Valeria;
Tolmie, John;
Melis, Daniela;
Schiaffino, Maria Cristina;
Filocamo, Mirella;
Andria, Generoso;
Brunetti-Pierri, Nicola

Publication type:

Article

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1219, doi. 10.1038/ejhg.2013.40

By:

Weemaes, Corry MR;
van Tol, Maarten JD;
Wang, Jun;
van Ostaijen-ten Dam, Monique M;
van Eggermond, Marja CJA;
Thijssen, Peter E;
Aytekin, Caner;
Brunetti-Pierri, Nicola;
van der Burg, Mirjam;
Graham Davies, E;
Ferster, Alina;
Furthner, Dieter;
Gimelli, Giorgio;
Gennery, Andy;
Kloeckener-Gruissem, Barbara;
Meyn, Stephan;
Powell, Cynthia;
Reisli, Ismail;
Schuetz, Catharina;
Schulz, Ansgar

Publication type:

Article

Reply to Amor et al.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 6, p. 597, doi. 10.1038/ejhg.2011.270

By:

Brunetti-Pierri, Nicola;
Cheung, Sau Wai;
Stankiewicz, Paweł

Publication type:

Article

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 1, p. 102, doi. 10.1038/ejhg.2010.142

By:

Brunetti-Pierri, Nicola;
Paciorkowski, Alex R.;
Ciccone, Roberto;
Mina, Erika Della;
Bonaglia, Maria Clara;
Borgatti, Renato;
Schaaf, Christian P;
Sutton, V. Reid;
Xia, Zhilian;
Jelluma, Naftha;
Ruivenkamp, Claudia;
Bertrand, Mary;
de Ravel, Thomy J. L.;
Jayakar, Parul;
Belli, Serena;
Rocchetti, Katia;
Pantaleoni, Chiara;
D'Arrigo, Stefano;
Hughes, Jeff;
Sau Wai Cheung

Publication type:

Article

Liver gene transfer for metabolite detoxification in inherited metabolic diseases.

Published in:

FEBS Letters, 2024, v. 598, n. 19, p. 2372, doi. 10.1002/1873-3468.14957

By:

D'Alessio, Alfonso M.;
Boffa, Iolanda;
De Stefano, Lucia;
Soria, Leandro R.;
Brunetti‐Pierri, Nicola

Publication type:

Article

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.

Published in:

Nature Genetics, 2008, v. 40, n. 12, p. 1466, doi. 10.1038/ng.279

By:

Brunetti-Pierri, Nicola;
Berg, Jonathan S.;
Scaglia, Fernando;
Belmont, John;
Bacino, Carlos A.;
Sahoo, Trilochan;
Lalani, Seema R.;
Graham, Brett;
Lee, Brendan;
Shinawi, Marwan;
Shen, Joseph;
Kang, Sung-Hae L.;
Pursley, Amber;
Lotze, Timothy;
Kennedy, Gail;
Lansky-Shafer, Susan;
Weaver, Christine;
Roeder, Elizabeth R.;
Grebe, Theresa A.;
Arnold, Georgianne L.

Publication type:

Article

Gene therapy with helper-dependent adenoviral vectors: lessons from studies in large animal models.

Published in:

Virus Genes, 2017, v. 53, n. 5, p. 684, doi. 10.1007/s11262-017-1471-x

By:

Brunetti-Pierri, Nicola;
Ng, Philip

Publication type:

Article

Sphingolipid Metabolism Perturbations in Rett Syndrome.

Published in:

Metabolites (2218-1989), 2019, v. 9, n. 10, p. 221, doi. 10.3390/metabo9100221

By:

Cappuccio, Gerarda;
Donti, Taraka;
Pinelli, Michele;
Bernardo, Pia;
Bravaccio, Carmela;
Elsea, Sarah H.;
Brunetti-Pierri, Nicola

Publication type:

Article

Natural history of KBG syndrome in a large European cohort.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 24, p. 4131, doi. 10.1093/hmg/ddac167

By:

Loberti, Lorenzo;
Bruno, Lucia Pia;
Granata, Stefania;
Doddato, Gabriella;
Resciniti, Sara;
Fava, Francesca;
Carullo, Michele;
Rahikkala, Elisa;
Jouret, Guillaume;
Menke, Leonie A;
Lederer, Damien;
Vrielynck, Pascal;
Ryba, Lukáš;
Brunetti-Pierri, Nicola;
Lasa-Aranzasti, Amaia;
Cueto-González, Anna Maria;
Trujillano, Laura;
Valenzuela, Irene;
Tizzano, Eduardo F;
Spinelli, Alessandro Mauro

Publication type:

Article

An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 13, p. 2250, doi. 10.1093/hmg/ddaa112

By:

Bedoni, Nicola;
Quinodoz, Mathieu;
Pinelli, Michele;
Cappuccio, Gerarda;
Torella, Annalaura;
Nigro, Vincenzo;
Testa, Francesco;
Simonelli, Francesca;
Program), TUDP (Telethon Undiagnosed Disease;
Corton, Marta;
Lualdi, Susanna;
Lanza, Federica;
Morana, Giovanni;
Ayuso, Carmen;
Rocco, Maja Di;
Filocamo, Mirella;
Banfi, Sandro;
Brunetti-Pierri, Nicola;
Superti-Furga, Andrea;
Rivolta, Carlo

Publication type:

Article

Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.

Published in:

Annals of Clinical & Translational Neurology, 2014, v. 1, n. 7, p. 462, doi. 10.1002/acn3.73

By:

Ferriero, Rosa;
Boutron, Audrey;
Brivet, Michele;
Kerr, Douglas;
Morava, Eva;
Rodenburg, Richard J.;
Bonafé, Luisa;
Baumgartner, Matthias R.;
Anikster, Yair;
Braverman, Nancy E.;
Brunetti‐Pierri, Nicola

Publication type:

Article

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-36277-7

By:

Van Haute, Lindsey;
O'Connor, Emily;
Díaz-Maldonado, Héctor;
Munro, Benjamin;
Polavarapu, Kiran;
Hock, Daniella H.;
Arunachal, Gautham;
Athanasiou-Fragkouli, Alkyoni;
Bardhan, Mainak;
Barth, Magalie;
Bonneau, Dominique;
Brunetti-Pierri, Nicola;
Cappuccio, Gerarda;
Caruana, Nikeisha J.;
Dominik, Natalia;
Goel, Himanshu;
Helman, Guy;
Houlden, Henry;
Lenaers, Guy;
Mention, Karine

Publication type:

Article

Phenylbutyrate Therapy for Pyruvate Dehydrogenase Complex Deficiency and Lactic Acidosis.

Published in:

Science Translational Medicine, 2013, v. 5, n. 175, p. 1, doi. 10.1126/scitranslmed.3004986

By:

Ferriero, Rosa;
Manco, Giuseppe;
Lamantea, Eleonora;
Nusco, Edoardo;
Ferrante, Maria I.;
Sordino, Paolo;
Stacpoole, Peter W.;
Lee, Brendan;
Zeviani, Massimo;
Brunetti-Pierri, Nicola

Publication type:

Article

Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.

Published in:

PLoS ONE, 2017, v. 12, n. 9, p. 1, doi. 10.1371/journal.pone.0184022

By:

Cappuccio, Gerarda;
Pinelli, Michele;
Alagia, Marianna;
Donti, Taraka;
Day-Salvatore, Debra-Lynn;
Veggiotti, Pierangelo;
De Giorgis, Valentina;
Lunghi, Simona;
Vari, Maria Stella;
Striano, Pasquale;
Brunetti-Pierri, Nicola;
Kennedy, Adam D.;
Elsea, Sarah H.

Publication type:

Article

Nutrient‐sensitive transcription factors TFEB and TFE3 couple autophagy and metabolism to the peripheral clock.

Published in:

EMBO Journal, 2019, v. 38, n. 12, p. N.PAG, doi. 10.15252/embj.2018101347

By:

Pastore, Nunzia;
Vainshtein, Anna;
Herz, Niculin J;
Huynh, Tuong;
Brunetti, Lorenzo;
Klisch, Tiemo J;
Mutarelli, Margherita;
Annunziata, Patrizia;
Kinouchi, Kenichiro;
Brunetti‐Pierri, Nicola;
Sassone‐Corsi, Paolo;
Ballabio, Andrea

Publication type:

Article

gene2drug: a computational tool for pathway-based rational drug repositioning.

Published in:

Bioinformatics, 2018, v. 34, n. 9, p. 1498, doi. 10.1093/bioinformatics/btx800

By:

Napolitano, Francesco;
Carrella, Diego;
Mandriani, Barbara;
Pisonero-Vaquero, Sandra;
Sirci, Francesco;
Medina, Diego L;
Brunetti-Pierri, Nicola;
Bernardo, Diego di

Publication type:

Article

Inborn errors of metabolism: the flux from Mendelian to complex diseases.

Published in:

2006

By:

Lanpher, Brendan;
Brunetti-Pierri, Nicola;
Lee, Brendan

Publication type:

journal article

Liver‐directed gene therapy for ornithine aminotransferase deficiency.

Published in:

EMBO Molecular Medicine, 2023, v. 15, n. 4, p. 1, doi. 10.15252/emmm.202217033

By:

Boffa, Iolanda;
Polishchuk, Elena;
De Stefano, Lucia;
Dell'Aquila, Fabio;
Nusco, Edoardo;
Marrocco, Elena;
Audano, Matteo;
Pedretti, Silvia;
Caterino, Marianna;
Bellezza, Ilaria;
Ruoppolo, Margherita;
Mitro, Nico;
Cellini, Barbara;
Auricchio, Alberto;
Brunetti‐Pierri, Nicola

Publication type:

Article

Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency.

Published in:

EMBO Molecular Medicine, 2023, v. 15, n. 3, p. 1, doi. 10.15252/emmm.202114837

By:

Schlotawa, Lars;
Tyka, Karolina;
Kettwig, Matthias;
Ahrens‐Nicklas, Rebecca C;
Baud, Matthias;
Berulava, Tea;
Brunetti‐Pierri, Nicola;
Gagne, Alyssa;
Herbst, Zackary M;
Maguire, Jean A;
Monfregola, Jlenia;
Pena, Tonatiuh;
Radhakrishnan, Karthikeyan;
Schröder, Sophie;
Waxman, Elisa A;
Ballabio, Andrea;
Dierks, Thomas;
Fischer, André;
French, Deborah L;
Gelb, Michael H

Publication type:

Article

Beclin‐1‐mediated activation of autophagy improves proximal and distal urea cycle disorders.

Published in:

EMBO Molecular Medicine, 2021, v. 13, n. 2, p. 1, doi. 10.15252/emmm.202013158

By:

Soria, Leandro R;
Gurung, Sonam;
De Sabbata, Giulia;
Perocheau, Dany P;
De Angelis, Angela;
Bruno, Gemma;
Polishchuk, Elena;
Paris, Debora;
Cuomo, Paola;
Motta, Andrea;
Orford, Michael;
Khalil, Youssef;
Eaton, Simon;
Mills, Philippa B;
Waddington, Simon N;
Settembre, Carmine;
Muro, Andrés F;
Baruteau, Julien;
Brunetti‐Pierri, Nicola

Publication type:

Article

Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency.

Published in:

EMBO Molecular Medicine, 2013, v. 5, n. 3, p. 397, doi. 10.1002/emmm.201202046

By:

Pastore, Nunzia;
Blomenkamp, Keith;
Annunziata, Fabio;
Piccolo, Pasquale;
Mithbaokar, Pratibha;
Maria Sepe, Rosa;
Vetrini, Francesco;
Palmer, Donna;
Ng, Philip;
Polishchuk, Elena;
Iacobacci, Simona;
Polishchuk, Roman;
Teckman, Jeffrey;
Ballabio, Andrea;
Brunetti‐Pierri, Nicola

Publication type:

Article

Liver-directed gene-based therapies for inborn errors of metabolism.

Published in:

Expert Opinion on Biological Therapy, 2021, v. 21, n. 2, p. 229, doi. 10.1080/14712598.2020.1817375

By:

Piccolo, Pasquale;
Rossi, Alessandro;
Brunetti-Pierri, Nicola

Publication type:

Article

Liver‐directed gene therapy for inherited metabolic diseases.

Published in:

Journal of Inherited Metabolic Disease, 2024, v. 47, n. 1, p. 9, doi. 10.1002/jimd.12709

By:

Baruteau, Julien;
Brunetti‐Pierri, Nicola;
Gissen, Paul

Publication type:

Article

Gene therapies for mucopolysaccharidoses.

Published in:

Journal of Inherited Metabolic Disease, 2024, v. 47, n. 1, p. 135, doi. 10.1002/jimd.12626

By:

Rossi, Alessandro;
Brunetti‐Pierri, Nicola

Publication type:

Article

Inborn Metabolic Diseases, Jean‐Marie Saudubray, Matthias R. Baumgartner, Angeles Garcia‐Cazorla, John H. Walter Eds, 7th edition, Springer, Berlin, Germany, 2022.

Published in:

2023

By:

Brunetti‐Pierri, Nicola

Publication type:

Book Review

New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 335, doi. 10.1002/jimd.12577

By:

Sorrentino, Nicolina Cristina;
Presa, Maximiliano;
Attanasio, Sergio;
Cacace, Vincenzo;
Sofia, Martina;
Zuberi, Aamir;
Ryan, Jennifer;
Ray, Somdatta;
Petkovic, Igor;
Radhakrishnan, Karthikeyan;
Schlotawa, Lars;
Ballabio, Andrea;
Lutz, Cathleen;
Brunetti‐Pierri, Nicola

Publication type:

Article

Ammonia and autophagy: An emerging relationship with implications for disorders with hyperammonemia.

Published in:

Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1097, doi. 10.1002/jimd.12061

By:

Soria, Leandro R.;
Brunetti‐Pierri, Nicola

Publication type:

Article

Hepatic glutamine synthetase augmentation enhances ammonia detoxification.

Published in:

Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1128, doi. 10.1002/jimd.12070

By:

Soria, Leandro R.;
Nitzahn, Matthew;
De Angelis, Angela;
Khoja, Suhail;
Attanasio, Sergio;
Annunziata, Patrizia;
Palmer, Donna J.;
Ng, Philip;
Lipshutz, Gerald S.;
Brunetti‐Pierri, Nicola

Publication type:

Article

Differential inhibition of PDKs by phenylbutyrate and enhancement of pyruvate dehydrogenase complex activity by combination with dichloroacetate.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 895, doi. 10.1007/s10545-014-9808-2

By:

Ferriero, Rosa;
Iannuzzi, Clara;
Manco, Giuseppe;
Brunetti-Pierri, Nicola

Publication type:

Article

Phenotypic correction of ornithine transcarbamylase deficiency using low dose helper-dependent adenoviral vectors.

Published in:

Journal of Gene Medicine, 2008, v. 10, n. 8, p. 890, doi. 10.1002/jgm.1218

By:

Brunetti-Pierri, Nicola;
Clarke, Christian;
Mane, Viraj;
Palmer, Donna J.;
Lanpher, Brendan;
Sun, Qin;
O'Brien, William;
Lee, Brendan

Publication type:

Article

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Published in:

Human Mutation, 2008, v. 29, n. 9, p. E150, doi. 10.1002/humu.20824

By:

Wong, Lee-Jun C.;
Naviaux, Robert K.;
Brunetti-Pierri, Nicola;
Zhang, Qing;
Schmitt, Eric S.;
Truong, Cavatina;
Milone, Margherita;
Cohen, Bruce H.;
Wical, Beverly;
Ganesh, Jaya;
Basinger, Alice A.;
Burton, Barbara K.;
Swoboda, Kathryn;
Gilbert, Donald L.;
Vanderver, Adeline;
Saneto, Russell P.;
Maranda, Bruno;
Arnold, Georgianne;
Abdenur, Jose E.;
Waters, Paula J.

Publication type:

Article