Posterior Cortical Atrophy phenotype in a GBA N370S mutation carrier: a case report

by Marina Picillo, Sara Scannapieco, Alessandro Iavarone, Monia Ginevrino, Enza Maria Valente, Paolo Barone
Published 2021-01-01

PINK1 Protects against Staurosporine-Induced Apoptosis by Interacting with Beclin1 and Impairing Its Pro-Apoptotic Cleavage

by Francesco Brunelli, Liliana Torosantucci, Vania Gelmetti, Davide Franzone, Anne Grünewald, Rejko Krüger, Giuseppe Arena, Enza Maria Valente
Published 2022-02-01

GBA Mutations Influence the Release and Pathological Effects of Small Extracellular Vesicles from Fibroblasts of Patients with Parkinson’s Disease

by Silvia Cerri, Cristina Ghezzi, Gerardo Ongari, Stefania Croce, Micol Avenali, Roberta Zangaglia, Donato A. Di Monte, Enza Maria Valente, Fabio Blandini
Published 2021-02-01

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi006-A from a patient affected by an autosomal recessive form of long QT syndrome type 1

by Manuela Mura, Francesca Bastaroli, Marzia Corli, Monia Ginevrino, Federica Calabrò, Marina Boni, Lia Crotti, Enza Maria Valente, Peter J. Schwartz, Massimiliano Gnecchi
Published 2020-01-01

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi003-A from a patient affected by an autosomal recessive form of Long QT Syndrome type 1

by Manuela Mura, Monia Ginevrino, Rita Zappatore, Federica Pisano, Marina Boni, Silvia Castelletti, Lia Crotti, Enza Maria Valente, Peter J. Schwartz, Massimiliano Gnecchi
Published 2018-05-01

Phenotypic Definition and Genotype-Phenotype Correlates in PMPCA-Related Disease

by Valentina Serpieri, Tommaso Biagini, Concetta Mazzotta, Rosa Pasquariello, Anna Rubegni, Filippo Santorelli, Gerardo Ongari, Silvia Cerri, Tommaso Mazza, Roberta Battini, Enza Maria Valente
Published 2021-01-01

A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children

by Claudia Ciaccio, Chiara Pantaleoni, Franco Taroni, Daniela Di Bella, Stefania Magri, Eleonora Lamantea, Daniele Ghezzi, Enza Maria Valente, Vincenzo Nigro, Stefano D’Arrigo
Published 2021-03-01

Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene

by Eltahir Ali, Rosalba Monica Ferraro, Gaetana Lanzi, Stefania Masneri, Giovanna Piovani, Elena Laura Mazzoldi, Valentina Serpieri, Enza Maria Valente, Lucio Giordano, Silvia Clara Giliani
Published 2020-12-01

Generation of two human induced pluripotent stem cell (hiPSC) lines from a long QT syndrome South African founder population

by Manuela Mura, Federica Pisano, Manuela Stefanello, Monia Ginevrino, Marina Boni, Federica Calabrò, Lia Crotti, Enza Maria Valente, Peter J. Schwartz, Paul A. Brink, Massimiliano Gnecchi
Published 2019-08-01

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi007-A from a Long QT Syndrome type 1 patient carrier of two common variants in the NOS1AP gene

by Manuela Mura, Federica Pisano, Manuela Stefanello, Monia Ginevrino, Marina Boni, Federica Calabrò, Lia Crotti, Enza Maria Valente, Peter J. Schwartz, Paul A. Brink, Massimiliano Gnecchi
Published 2019-04-01

Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850)

by Jessica Rosati, Filomena Altieri, Silvia Tardivo, Elisa Maria Turco, Marina Goldoni, Iolanda Spasari, Daniela Ferrari, Laura Bernardini, Giuseppe Lamorte, Enza Maria Valente, Angelo Luigi Vescovi
Published 2018-03-01

A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?

by Roberto Franceschi, Evelina Maines, Maria Bellizzi, Francesca Rivieri, Andrea Bacca, Alessandra Filippi, Enza Maria Valente, Massimo Plumari, Massimo Soffiati, Monica Vincenzi, Francesca Teofoli, Marta Camilot
Published 2023-01-01

Brain Connectivity Changes in Autosomal Recessive Parkinson Disease: A Model for the Sporadic Form.

by Elena Makovac, Mara Cercignani, Laura Serra, Mario Torso, Barbara Spanò, Simona Petrucci, Lucia Ricciardi, Monia Ginevrino, Carlo Caltagirone, Anna Rita Bentivoglio, Enza Maria Valente, Marco Bozzali
Published 2016-01-01

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi004-A from a carrier of the KCNQ1-R594Q mutation

by Manuela Mura, Yee-Ki Lee, Federica Pisano, Monia Ginevrino, Marina Boni, Federica Calabrò, Lia Crotti, Enza Maria Valente, Peter J. Schwartz, Hung-Fat Tse, Massimiliano Gnecchi
Published 2019-05-01

Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements

by Adriana Prato, Lara Cirnigliaro, Federica Maugeri, Antonina Luca, Loretta Giuliano, Giuseppina Vitiello, Edoardo Errichiello, Enza Maria Valente, Ennio Del Giudice, Giovanni Mostile, Renata Rizzo, Rita Barone
Published 2024-02-01

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi005-A from a patient carrying the KCNQ1-R190W mutation

by Manuela Mura, Yee-Ki Lee, Federica Pisano, Monia Ginevrino, Marina Boni, Federica Calabrò, Lia Crotti, Enza Maria Valente, Peter J. Schwartz, Hung-Fat Tse, Massimiliano Gnecchi
Published 2019-05-01

Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome

by Filomena Altieri, Angela D'Anzi, Francesco Martello, Silvia Tardivo, Iolanda Spasari, Daniela Ferrari, Laura Bernardini, Giuseppe Lamorte, Gianluigi Mazzoccoli, Enza Maria Valente, Angelo Luigi Vescovi, Jessica Rosati
Published 2019-07-01

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozyg...

by Manuela Mura, Yee-ki Lee, Monia Ginevrino, Rita Zappatore, Federica Pisano, Marina Boni, Federica Dagradi, Lia Crotti, Enza Maria Valente, Peter J. Schwartz, Hung-Fat Tse, Massimiliano Gnecchi
Published 2018-05-01

Establishment of three Joubert syndrome-derived induced pluripotent stem cell (iPSC) lines harbouring compound heterozygous mutations in CC2D2A gene

by Eltahir Ali, Rosalba Monica Ferraro, Adele Guglielmi, Gaetana Lanzi, Stefania Masneri, Giovanna Piovani, Elena Laura Mazzoldi, Lidia Pollara, Enza Maria Valente, Patrizia Accorsi, Lucio Giordano, Silvia Clara Giliani
Published 2021-07-01

The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued

by Simone Schröder, Gökhan Yigit, Yun Li, Janine Altmüller, Hans-Martin Büttel, Barbara Fiedler, Christoph Kretzschmar, Peter Nürnberg, Jürgen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockmann
Published 2023-05-01