Accueil
C Caputi
C Caputi
Publications (7)
Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.
Human mutation
Avec:
Sara Nuovo
,
Valentina Baglioni
,
Roberta De Mori
,
Silvia Tardivo
,
Caterina Caputi
,
Monia Ginevrino
,
Alessia Micalizzi
,
Laura Masuelli
,
Giulia Federici
,
Antonella Casella
,
Elisa Lorefice
,
Danila Anello
,
Manuela Tolve
,
Donatella Farini
,
Enrico Bertini
,
Ginevra Zanni
,
Lorena Travaglini
,
Gessica Vasco
,
Claudio Sette
,
Carla Carducci
,
Enza M Valente
,
Vincenzo Leuzzi
Impaired arterial dilation and increased NOX2 generated oxidative stress in subjects with ataxia-telangiectasia mutated (ATM) kinase.
Redox biology
Avec:
Lorenzo Loffredo
,
Annarosa Soresina
,
Bianca Laura Cinicola
,
Martina Capponi
,
Francesca Salvatori
,
Simona Bartimoccia
,
Vittorio Picchio
,
Maurizio Forte
,
Caterina Caputi
,
Roberto Poscia
,
Vincenzo Leuzzi
,
Alberto Spalice
,
Pasquale Pignatelli
,
Raffaele Badolato
,
Marzia Duse
,
Francesco Violi
,
Roberto Carnevale
,
Anna Maria Zicari
,
Auteur inconnu
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.
European journal of human genetics : EJHG
Avec:
Fulvio D'Abrusco
,
Valentina Serpieri
,
Cecilia Maria Taccagni
,
Jessica Garau
,
Luca Cattaneo
,
Monica Boggioni
,
Simone Gana
,
Roberta Battini
,
Enrico Bertini
,
Ginevra Zanni
,
Eugen Boltshauser
,
Renato Borgatti
,
Romina Romaniello
,
Sabrina Signorini
,
Vincenzo Leuzzi
,
Caterina Caputi
,
Filippo Manti
,
Stefano D'Arrigo
,
Arianna De Laurentiis
,
Claudio Graziano
,
Johannes R Lemke
,
Federica Morelli
,
Danijela Petković Ramadža
,
Fabio Sirchia
,
Elisa Giorgio
,
Enza Maria Valente
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Brain : a journal of neurology
Avec:
Serena Galosi
,
Ban H Edani
,
Simone Martinelli
,
Hana Hansikova
,
Erik A Eklund
,
Caterina Caputi
,
Laura Masuelli
,
Nicole Corsten-Janssen
,
Myriam Srour
,
Renske Oegema
,
Daniëlle G M Bosch
,
Colin A Ellis
,
Louise Amlie-Wolf
,
Andrea Accogli
,
Isis Atallah
,
Luisa Averdunk
,
Kristin W Barañano
,
Roberto Bei
,
Irene Bagnasco
,
Alfredo Brusco
,
Scott Demarest
,
Anne-Sophie Alaix
,
Carlo Di Bonaventura
,
Felix Distelmaier
,
Frances Elmslie
,
Ziv Gan-Or
,
Jean-Marc Good
,
Karen Gripp
,
Erik-Jan Kamsteeg
,
Ellen Macnamara
,
Carlo Marcelis
,
Noëlle Mercier
,
Joseph Peeden
,
Simone Pizzi
,
Luca Pannone
,
Marwan Shinawi
,
Camilo Toro
,
Nienke E Verbeek
,
Sunita Venkateswaran
,
Patricia G Wheeler
,
Lucie Zdrazilova
,
Rong Zhang
,
Giovanna Zorzi
,
Renzo Guerrini
,
William C Sessa
,
Dirk J Lefeber
,
Marco Tartaglia
,
Fadi F Hamdan
,
Kariona A Grabińska
,
Vincenzo Leuzzi
Mild Neurological Phenotype Associated with Hypomorphic Variants in the Ataxia-Telangiectasia Mutated Gene.
Movement disorders clinical practice
Avec:
Caterina Caputi
,
Giulia Federici
,
Silvia Soddu
,
Lorena Travaglini
,
Maria Piane
,
Enrico Bertini
,
Ginevra Zanni
,
Vincenzo Leuzzi
Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international experts.
Cancer medicine
Avec:
Renata Neves
,
Blanca De Dios Perez
,
Rafal Panek
,
Sumit Jagani
,
Sophie Wilne
,
Jayesh M Bhatt
,
Caterina Caputi
,
Emilia Cirillo
,
David J Coman
,
Gregor Dückers
,
Donald L Gilbert
,
Mary Kay Koenig
,
Lobna Mansour
,
Elizabeth McDermott
,
Micaela Pauni
,
Claudio Pignata
,
Susan L Perlman
,
Oscar Porras
,
Mariela Betina Porto
,
Katherine Schon
,
Pere Soler-Palacin
,
Sam Nick Russo
,
Masatoshi Takagi
,
Marc Tischkowitz
,
Claire Wainwright
,
Madhumita Dandapani
,
Cristine Glazebrook
,
Mohnish Suri
,
William P Whitehouse
,
Robert A Dineen
Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene.
Stem cell research
Avec:
Giovannina Rotundo
,
Elisa Maria Turco
,
Giorgia Ruotolo
,
Isabella Torrente
,
Ornella Candido
,
Gianluca Lopez
,
Daniela Ferrari
,
Caterina Caputi
,
Mario Mastrangelo
,
Francesco Pisani
,
Maurizio Gelati
,
Vito Guarnieri
,
Angelo Luigi Vescovi
,
Jessica Rosati
Réseau de co-auteurs
Caterina Caputi
7 collaborations
Vincenzo Leuzzi
5 collaborations
Enrico Bertini
3 collaborations
Ginevra Zanni
3 collaborations
Laura Masuelli
2 collaborations
Giulia Federici
2 collaborations
Lorena Travaglini
2 collaborations
Sara Nuovo
1 collaboration
Valentina Baglioni
1 collaboration
Roberta De Mori
1 collaboration
Silvia Tardivo
1 collaboration
Monia Ginevrino
1 collaboration
Alessia Micalizzi
1 collaboration
Antonella Casella
1 collaboration
Elisa Lorefice
1 collaboration
Danila Anello
1 collaboration
Manuela Tolve
1 collaboration
Donatella Farini
1 collaboration
Gessica Vasco
1 collaboration
Claudio Sette
1 collaboration
Carla Carducci
1 collaboration
Enza M Valente
1 collaboration
Lorenzo Loffredo
1 collaboration
Annarosa Soresina
1 collaboration
Bianca Laura Cinicola
1 collaboration
Martina Capponi
1 collaboration
Francesca Salvatori
1 collaboration
Simona Bartimoccia
1 collaboration
Vittorio Picchio
1 collaboration
Maurizio Forte
1 collaboration
Roberto Poscia
1 collaboration
Alberto Spalice
1 collaboration
Pasquale Pignatelli
1 collaboration
Raffaele Badolato
1 collaboration
Marzia Duse
1 collaboration
Francesco Violi
1 collaboration
Roberto Carnevale
1 collaboration
Anna Maria Zicari
1 collaboration
None None
1 collaboration
Fulvio D'Abrusco
1 collaboration
Valentina Serpieri
1 collaboration
Cecilia Maria Taccagni
1 collaboration
Jessica Garau
1 collaboration
Luca Cattaneo
1 collaboration
Monica Boggioni
1 collaboration
Simone Gana
1 collaboration
Roberta Battini
1 collaboration
Eugen Boltshauser
1 collaboration
Renato Borgatti
1 collaboration
Romina Romaniello
1 collaboration
Sabrina Signorini
1 collaboration
Filippo Manti
1 collaboration
Stefano D'Arrigo
1 collaboration
Arianna De Laurentiis
1 collaboration
Claudio Graziano
1 collaboration
Johannes R Lemke
1 collaboration
Federica Morelli
1 collaboration
Danijela Petković Ramadža
1 collaboration
Fabio Sirchia
1 collaboration
Elisa Giorgio
1 collaboration
Enza Maria Valente
1 collaboration
Serena Galosi
1 collaboration
Ban H Edani
1 collaboration
Simone Martinelli
1 collaboration
Hana Hansikova
1 collaboration
Erik A Eklund
1 collaboration
Nicole Corsten-Janssen
1 collaboration
Myriam Srour
1 collaboration
Renske Oegema
1 collaboration
Daniëlle G M Bosch
1 collaboration
Colin A Ellis
1 collaboration
Louise Amlie-Wolf
1 collaboration
Andrea Accogli
1 collaboration
Isis Atallah
1 collaboration
Luisa Averdunk
1 collaboration
Kristin W Barañano
1 collaboration
Roberto Bei
1 collaboration
Irene Bagnasco
1 collaboration
Alfredo Brusco
1 collaboration
Scott Demarest
1 collaboration
Anne-Sophie Alaix
1 collaboration
Carlo Di Bonaventura
1 collaboration
Felix Distelmaier
1 collaboration
Frances Elmslie
1 collaboration
Ziv Gan-Or
1 collaboration
Jean-Marc Good
1 collaboration
Karen Gripp
1 collaboration
Erik-Jan Kamsteeg
1 collaboration
Ellen Macnamara
1 collaboration
Carlo Marcelis
1 collaboration
Noëlle Mercier
1 collaboration
Joseph Peeden
1 collaboration
Simone Pizzi
1 collaboration
Luca Pannone
1 collaboration
Marwan Shinawi
1 collaboration
Camilo Toro
1 collaboration
Nienke E Verbeek
1 collaboration
Sunita Venkateswaran
1 collaboration
Patricia G Wheeler
1 collaboration
Lucie Zdrazilova
1 collaboration
Rong Zhang
1 collaboration
Giovanna Zorzi
1 collaboration
Renzo Guerrini
1 collaboration
William C Sessa
1 collaboration
Dirk J Lefeber
1 collaboration
Marco Tartaglia
1 collaboration
Fadi F Hamdan
1 collaboration
Kariona A Grabińska
1 collaboration
Silvia Soddu
1 collaboration
Maria Piane
1 collaboration
Renata Neves
1 collaboration
Blanca De Dios Perez
1 collaboration
Rafal Panek
1 collaboration
Sumit Jagani
1 collaboration
Sophie Wilne
1 collaboration
Jayesh M Bhatt
1 collaboration
Emilia Cirillo
1 collaboration
David J Coman
1 collaboration
Gregor Dückers
1 collaboration
Donald L Gilbert
1 collaboration
Mary Kay Koenig
1 collaboration
Lobna Mansour
1 collaboration
Elizabeth McDermott
1 collaboration
Micaela Pauni
1 collaboration
Claudio Pignata
1 collaboration
Susan L Perlman
1 collaboration
Oscar Porras
1 collaboration
Mariela Betina Porto
1 collaboration
Katherine Schon
1 collaboration
Pere Soler-Palacin
1 collaboration
Sam Nick Russo
1 collaboration
Masatoshi Takagi
1 collaboration
Marc Tischkowitz
1 collaboration
Claire Wainwright
1 collaboration
Madhumita Dandapani
1 collaboration
Cristine Glazebrook
1 collaboration
Mohnish Suri
1 collaboration
William P Whitehouse
1 collaboration
Robert A Dineen
1 collaboration
Giovannina Rotundo
1 collaboration
Elisa Maria Turco
1 collaboration
Giorgia Ruotolo
1 collaboration
Isabella Torrente
1 collaboration
Ornella Candido
1 collaboration
Gianluca Lopez
1 collaboration
Daniela Ferrari
1 collaboration
Mario Mastrangelo
1 collaboration
Francesco Pisani
1 collaboration
Maurizio Gelati
1 collaboration
Vito Guarnieri
1 collaboration
Angelo Luigi Vescovi
1 collaboration
Jessica Rosati
1 collaboration