Researcher
Nicola Brunetti-Pierri
Universita' di Napoli "Federico II"
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8 papers found
All papers authored by Nicola Brunetti-Pierri
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2023
Lars Schlotawa 
,
Karolina Tyka ,
Matthias Kettwig ,
Rebecca C. Ahrens‐Nicklas,
Matthias Baud ,
Tea Berulava,
Nicola Brunetti‐Pierri ,
Alyssa Gagne ,
Zackary M. Herbst,
Jean A. Maguire,
Jlenia Monfregola,
Tonatiuh Pena ,
Karthikeyan Radhakrishnan ,
Sophie Schröder,
Elisa A. Waxman
and 6 other authors
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,
Karolina Tyka ,
Matthias Kettwig ,
Rebecca C. Ahrens‐Nicklas,
Matthias Baud ,
Tea Berulava,
Nicola Brunetti‐Pierri ,
Alyssa Gagne ,
Zackary M. Herbst,
Jean A. Maguire,
Jlenia Monfregola,
Tonatiuh Pena ,
Karthikeyan Radhakrishnan ,
Sophie Schröder,
Elisa A. Waxman
and 6 other authors
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Iolanda Boffa ,
Elena Polishchuk,
Lucia De Stefano,
Fabio Dell'Aquila,
Edoardo Nusco,
Elena Marrocco,
Matteo Audano ,
Silvia Pedretti,
Marianna Caterino ,
Ilaria Bellezza,
Margherita Ruoppolo,
Nico Mitro ,
Barbara Cellini ,
Alberto Auricchio ,
Nicola Brunetti‐Pierri
,
Elena Polishchuk,
Lucia De Stefano,
Fabio Dell'Aquila,
Edoardo Nusco,
Elena Marrocco,
Matteo Audano ,
Silvia Pedretti,
Marianna Caterino ,
Ilaria Bellezza,
Margherita Ruoppolo,
Nico Mitro ,
Barbara Cellini ,
Alberto Auricchio ,
Nicola Brunetti‐Pierri
Liver‐directed gene therapy for ornithine aminotransferase deficiency
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2022
Michael A. Levy,
Raissa Relator,
Haley McConkey,
Erinija Pranckeviciene,
Jennifer Kerkhof,
Mouna Barat‐Houari,
Sara Bargiacchi,
Elisa Biamino,
María Palomares Bralo,
Gerarda Cappuccio ,
Andrea Ciolfi,
Angus Clarke ,
Barbara R. DuPont,
Mariet W. Elting,
Laurence Faivre
and 77 other authors
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,
Andrea Ciolfi,
Angus Clarke ,
Barbara R. DuPont,
Mariet W. Elting,
Laurence Faivre
and 77 other authors
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Maike F. Dohrn ,
Adriana P. Rebelo,
Siddharth Srivastava,
Gerarda Cappuccio,
Robert Smigiel ,
Alka Malhotra,
Donald Basel,
Ingrid van de Laar ,
Rinze Frederik Neuteboom ,
Coranne Aarts-Tesselaar,
Sonal Mahida,
Nicola Brunetti-Pierri ,
Ryan J. Taft,
Stephan Züchner
,
Adriana P. Rebelo,
Siddharth Srivastava,
Gerarda Cappuccio,
Robert Smigiel ,
Alka Malhotra,
Donald Basel,
Ingrid van de Laar ,
Rinze Frederik Neuteboom ,
Coranne Aarts-Tesselaar,
Sonal Mahida,
Nicola Brunetti-Pierri ,
Ryan J. Taft,
Stephan Züchner
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome
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2021
Ferdy S. van Geest ,
Stefan Groeneweg ,
Erica L. T. van den Akker ,
Iuliu Bacos,
Diana Barca,
Sjoerd A. A. van den Berg ,
Enrico Bertini ,
Doris Brunner,
Nicola Brunetti-Pierri ,
Marco Cappa,
Gerarda Cappuccio,
Krishna Chatterjee,
Alexander D. Chesover,
Peter Christian,
Régis Coutant
and 47 other authors
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,
Stefan Groeneweg ,
Erica L. T. van den Akker ,
Iuliu Bacos,
Diana Barca,
Sjoerd A. A. van den Berg ,
Enrico Bertini ,
Doris Brunner,
Nicola Brunetti-Pierri ,
Marco Cappa,
Gerarda Cappuccio,
Krishna Chatterjee,
Alexander D. Chesover,
Peter Christian,
Régis Coutant
and 47 other authors
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2020
Ferdy S. van Geest ,
Marcel E. Meima,
Kyra E. Stuurman,
Nicole I. Wolf ,
Marjo S. van der Knaap,
Cláudia F. Lorea,
Fabiano O. Poswar,
Filippo Vairo,
Nicola Brunetti-Pierri ,
Gerarda Cappuccio,
Priyanka Bakhtiani,
Sonja A. de Munnik,
Robin P. Peeters ,
W. Edward Visser,
Stefan Groeneweg
,
Marcel E. Meima,
Kyra E. Stuurman,
Nicole I. Wolf ,
Marjo S. van der Knaap,
Cláudia F. Lorea,
Fabiano O. Poswar,
Filippo Vairo,
Nicola Brunetti-Pierri ,
Gerarda Cappuccio,
Priyanka Bakhtiani,
Sonja A. de Munnik,
Robin P. Peeters ,
W. Edward Visser,
Stefan Groeneweg
Clinical and functional consequences of C-terminal variants in MCT8: a case series
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Cedrik Tekendo‐Ngongang,
Babajide Owosela,
Nicole Fleischer,
Yonit A. Addissie,
Bryan Malonga,
Ebenezer Badoe,
Neerja Gupta,
Angélica Moresco,
Victoria Huckstadt,
Engy A. Ashaat,
Dalia Farouk Hussen,
Ho‐Ming Luk ,
Ivan F. M. Lo,
Brian Hon‐Yin Chung ,
Jasmine L. F. Fung
and 28 other authors
,
Ivan F. M. Lo,
Brian Hon‐Yin Chung ,
Jasmine L. F. Fung
and 28 other authors
Rubinstein–Taybi syndrome in diverse populations
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