Showing 1 - 20 results of 40 for search 'Enrico Bertini', query time: 0.72s
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A Survey of Domain Knowledge Elicitation in Applied Machine Learning by Daniel Kerrigan, Jessica Hullman, Enrico Bertini
Published 2021-11-01
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Editorial: Tubulinopathies: fundamental and clinical challenges by Antonella Sferra, Enrico Bertini, Georg Haase
Published 2023-10-01
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Microtubule Dysfunction: A Common Feature of Neurodegenerative Diseases by Antonella Sferra, Francesco Nicita, Enrico Bertini
Published 2020-10-01
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New Insights into the Neurodegeneration Mechanisms Underlying Riboflavin Transporter Deficiency (RTD): Involvement of Energy Dysmetabolism and Cytoskeletal Derangement by Fiorella Colasuonno, Chiara Marioli, Marco Tartaglia, Enrico Bertini, Claudia Compagnucci, Sandra Moreno
Published 2022-06-01
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Expanding the Clinical and Mutational Spectrum of the <em>PLP1</em>-Related Hypomyelination of Early Myelinated Structures (HEMS) by Francesco Nicita, Chiara Aiello, Gessica Vasco, Massimiliano Valeriani, Fabrizia Stregapede, Andrea Sancesario, Michela Armando, Enrico Bertini
Published 2021-01-01
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The burden of mitochondrial disease with associated seizures: systematic literature reviews of health-related quality of life, utilities, costs and healthcare resource use data by Enrico Bertini, Emily Gregg, Chris Bartlett, Vij Senthilnathan, Mick Arber, Deborah Watkins, Sara Graziadio, Ioannis Tomazos
Published 2023-10-01
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Neurological and Neuroimaging Features of <i>CYB5R3</i>-Related Recessive Hereditary Methemoglobinemia Type II by Francesco Nicita, Letizia Sabatini, Viola Alesi, Giulia Lucignani, Ester Sallicandro, Antonella Sferra, Enrico Bertini, Ginevra Zanni, Giuseppe Palumbo
Published 2022-01-01
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Caspase-dependent apoptosis in Riboflavin Transporter Deficiency iPSCs and derived motor neurons by Chiara Marioli, Maurizio Muzzi, Fiorella Colasuonno, Cristian Fiorucci, Nicolò Cicolani, Stefania Petrini, Enrico Bertini, Marco Tartaglia, Claudia Compagnucci, Sandra Moreno
Published 2024-01-01
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Novel loss of function mutation in TUBA1A gene compromises tubulin stability and proteostasis causing spastic paraplegia and ataxia by Riccardo Zocchi, Emanuele Bellacchio, Michela Piccione, Raffaella Scardigli, Raffaella Scardigli, Valentina D’Oria, Stefania Petrini, Kristin Baranano, Enrico Bertini, Antonella Sferra
Published 2023-06-01
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Clinical and Genetic Aspects of Phelan–McDermid Syndrome: An Interdisciplinary Approach to Management by Francisco Cammarata-Scalisi, Michele Callea, Diego Martinelli, Colin Eric Willoughby, Antonio Cárdenas Tadich, Maykol Araya Castillo, María Angelina Lacruz-Rengel, Marco Medina, Piercesare Grimaldi, Enrico Bertini, Julián Nevado
Published 2022-03-01
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