Showing 1 - 20 results of 31 for search 'Enza Maria Valente', query time: 0.09s Refine Results
  1. 1
    Posterior Cortical Atrophy phenotype in a GBA N370S mutation carrier: a case report

    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
    Get full text
    Article
  2. 2
    PINK1 Protects against Staurosporine-Induced Apoptosis by Interacting with Beclin1 and Impairing Its Pro-Apoptotic Cleavage

    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
    Get full text
    Article
  3. 3
    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

    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
    Get full text
    Article
  4. 4
    A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children

    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
    Get full text
    Article
  5. 5
    Phenotypic Definition and Genotype-Phenotype Correlates in PMPCA-Related Disease

    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
    Get full text
    Article
  6. 6
    Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene

    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
    Get full text
    Article
  7. 7
    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

    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
    Get full text
    Article
  8. 8
    A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?

    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
    Get full text
    Article
  9. 9
    Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850)

    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
    Get full text
    Article
  10. 10
    Generation of the human induced pluripotent stem cell (hiPSC) line PSMi005-A from a patient carrying the KCNQ1-R190W mutation

    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
    Get full text
    Article
  11. 11
    Brain Connectivity Changes in Autosomal Recessive Parkinson Disease: A Model for the Sporadic Form.

    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
    Get full text
    Article
  12. 12
    Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome

    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
    Get full text
    Article
  13. 13
    Establishment of three Joubert syndrome-derived induced pluripotent stem cell (iPSC) lines harbouring compound heterozygous mutations in CC2D2A gene

    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
    Get full text
    Article
  14. 14
    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 heterozygous mutations on the KCNQ1 gene

    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
    Get full text
    Article
  15. 15
    Male sex accelerates cognitive decline in GBA1 Parkinson’s disease

    Male sex accelerates cognitive decline in GBA1 Parkinson’s disease by Silvia Paola Caminiti, Micol Avenali, Alice Galli, Rachele Malito, Giada Cuconato, Caterina Galandra, Rosaria Calabrese, Andrea Pilotto, Alessandro Padovani, Fabio Blandini, Daniela Perani, Cristina Tassorelli, Enza Maria Valente

    Published 2025-03-01
    Get full text
    Article
  16. 16
    The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued

    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
    Get full text
    Article
  17. 17
    CSF d18:1 sphingolipid species in Parkinson disease and dementia with Lewy bodies with and without GBA1 variants

    CSF d18:1 sphingolipid species in Parkinson disease and dementia with Lewy bodies with and without GBA1 variants by Stefanie Lerche, Isabel Wurster, Enza Maria Valente, Micol Avenali, Daniela Samaniego, Marta Martínez-Vicente, Jorge Hernández-Vara, Ariadna Laguna, Andrea Sturchio, Per Svenningsson, Nicholas P. France, Carrolee Barlow, Sethu Sankaranarayanan, Kathrin Brockmann

    Published 2024-10-01
    Get full text
    Article
  18. 18
    Blood D-serine levels correlate with aging and dopaminergic treatment in Parkinson's disease

    Blood D-serine levels correlate with aging and dopaminergic treatment in Parkinson's disease by Alberto Imarisio, Isar Yahyavi, Micol Avenali, Anna Di Maio, Gabriele Buongarzone, Caterina Galandra, Marta Picascia, Asia Filosa, Clara Gasparri, Maria Cristina Monti, Mariangela Rondanelli, Claudio Pacchetti, Francesco Errico, Enza Maria Valente, Alessandro Usiello

    Published 2024-03-01
    Get full text
    Article
  19. 19
    Diagnostic Yield and Cost-Effectiveness of “Dynamic” Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy

    Diagnostic Yield and Cost-Effectiveness of “Dynamic” Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy by Costanza Varesio, Simone Gana, Alessia Asaro, Elena Ballante, Raffaella Fiamma Cabini, Elena Tartara, Michela Bagnaschi, Ludovica Pasca, Marialuisa Valente, Simona Orcesi, Cristina Cereda, Pierangelo Veggiotti, Renato Borgatti, Enza Maria Valente, Valentina De Giorgis

    Published 2021-05-01
    Get full text
    Article
  20. 20
    Serum dysregulation of serine and glycine metabolism as predictive biomarker for cognitive decline in frail elderly subjects

    Serum dysregulation of serine and glycine metabolism as predictive biomarker for cognitive decline in frail elderly subjects by Alberto Imarisio, Isar Yahyavi, Clara Gasparri, Amber Hassan, Micol Avenali, Anna Di Maio, Gabriele Buongarzone, Caterina Galandra, Marta Picascia, Asia Filosa, Maria Cristina Monti, Claudio Pacchetti, Francesco Errico, Mariangela Rondanelli, Alessandro Usiello, Enza Maria Valente

    Published 2024-07-01
    Get full text
    Article

Search Tools: