Next‐generation sequencing in pediatric‐onset epilepsies: Analysis with target panels and personalized therapeutic approach

Authors: Barbara Castellotti, Francesca Ragona, Elena Freri, Giuliana Messina, Stefania Magri, Roberto Previtali, Roberta Solazzi, Silvana Franceschetti, Franco Taroni, Laura Canafoglia, Cinzia Gellera, Tiziana Granata, Jacopo C. DiFrancesco

Source: Epilepsia Open, Vol 9, Iss 5, Pp 1922-1930 (2024)

Subject Terms: next‐generation sequencing, panels of analysis, pediatric epilepsy, personalized medicine, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2470-9239

Access URL: https://doaj.org/article/d468767ad5234ec49d894b0eed7f70a2

Novel NOTCH3 mutation c.1564 T > A (p.Cys522Ser) presenting with early-onset Parkinsonism and white matter lesions

Authors: Nicola Rifino, Silvia Baratta, Esteban Zacarias, Isabella Canavero, Benedetta Storti, Mario Stanziano, Emanuela Maderna, Gianluca Marucci, Franco Taroni, Anna Bersano

Source: Clinical Parkinsonism & Related Disorders, Vol 12, Iss , Pp 100297- (2025)

Subject Terms: CADASIL, Parkinsonism, Stroke, Variant of uncertain significance, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2590112525000015; https://doaj.org/toc/2590-1125

Access URL: https://doaj.org/article/e9d008c721d8493ea90cd96a48da56cd

Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders

Authors: Marta Cozzi, Stefania Magri, Barbara Tedesco, Guglielmo Patelli, Veronica Ferrari, Elena Casarotto, Marta Chierichetti, Paola Pramaggiore, Laura Cornaggia, Margherita Piccolella, Mariarita Galbiati, Paola Rusmini, Valeria Crippa, Jessica Mandrioli, Davide Pareyson, Chiara Pisciotta, Stefano D’Arrigo, Antonia Ratti, Lorenzo Nanetti, Caterina Mariotti, Elisa Sarto, Viviana Pensato, Cinzia Gellera, Daniela Di Bella, Riccardo M. Cristofani, Franco Taroni, Angelo Poletti

Source: Cell Death and Disease, Vol 15, Iss 9, Pp 1-16 (2024)

Subject Terms: Cytology, QH573-671

File Description: electronic resource

Relation: https://doaj.org/toc/2041-4889

Access URL: https://doaj.org/article/4ee9d6c2a3624724948ed40d302b0625

A model-independent redundancy measure for human versus ChatGPT authorship discrimination using a Bayesian probabilistic approach

Authors: Silvia Bozza, Claude-Alain Roten, Antoine Jover, Valentina Cammarota, Lionel Pousaz, Franco Taroni

Source: Scientific Reports, Vol 13, Iss 1, Pp 1-8 (2023)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/573b52f749934093b3824ecde7f1c75a

Stylometry and forensic science: A literature review

Authors: Valentina Cammarota, Silvia Bozza, Claude-Alain Roten, Franco Taroni

Source: Forensic Science International: Synergy, Vol 9, Iss , Pp 100481- (2024)

Subject Terms: Forensic stylistics, Stylometry, Authorship attribution, Criminal law and procedure, K5000-5582

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589871X24000287; https://doaj.org/toc/2589-871X

Access URL: https://doaj.org/article/bb9fd796307d482eb048ef97fe555da7

Chronic cholesterol administration to the brain supports complete and long-lasting cognitive and motor amelioration in Huntington’s disease

Authors: Giulia Birolini, Marta Valenza, Ilaria Ottonelli, Francesca Talpo, Lucia Minoli, Andrea Cappelleri, Mauro Bombaci, Claudio Caccia, Caterina Canevari, Arianna Trucco, Valerio Leoni, Alice Passoni, Monica Favagrossa, Maria Rosaria Nucera, Laura Colombo, Saverio Paltrinieri, Renzo Bagnati, Jason Thomas Duskey, Riccardo Caraffi, Maria Angela Vandelli, Franco Taroni, Mario Salmona, Eugenio Scanziani, Gerardo Biella, Barbara Ruozi, Giovanni Tosi, Elena Cattaneo

Source: Pharmacological Research, Vol 194, Iss , Pp 106823- (2023)

Subject Terms: Cholesterol, Huntington's disease, Brain delivery, Nanoparticles, Cognitive decline, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1043661823001792; https://doaj.org/toc/1096-1186

Access URL: https://doaj.org/article/96c6f98820c54018a225e99542b0010a

Generation of an iPSC line from a patient with spastic paraplegia type 10 carrying a novel mutation in KIF5A gene

Authors: Serena Santangelo, Patrizia Bossolasco, Stefania Magri, Claudia Colombrita, Sabrina Invernizzi, Cinzia Gellera, Lorenzo Nanetti, Daniela Di Bella, Vincenzo Silani, Franco Taroni, Antonia Ratti

Source: Stem Cell Research, Vol 66, Iss , Pp 103008- (2023)

Subject Terms: Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506122003579; https://doaj.org/toc/1873-5061

Access URL: https://doaj.org/article/a75a2c3ab14a42fdab4634051f262944

Charcot–Marie–Tooth disease type 2F associated with biallelic HSPB1 mutations

Authors: Elena Abati, Stefania Magri, Megi Meneri, Giulia Manenti, Daniele Velardo, Francesca Balistreri, Chiara Pisciotta, Paola Saveri, Nereo Bresolin, Giacomo Pietro Comi, Dario Ronchi, Davide Pareyson, Franco Taroni, Stefania Corti

Source: Annals of Clinical and Translational Neurology, Vol 8, Iss 5, Pp 1158-1164 (2021)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2328-9503

Access URL: https://doaj.org/article/8c53bf3251f34d1f981917f03f631b36

Striatal infusion of cholesterol promotes dose‐dependent behavioral benefits and exerts disease‐modifying effects in Huntington's disease mice

Authors: Giulia Birolini, Marta Valenza, Eleonora Di Paolo, Elena Vezzoli, Francesca Talpo, Claudia Maniezzi, Claudio Caccia, Valerio Leoni, Franco Taroni, Vittoria D Bocchi, Paola Conforti, Elisa Sogne, Lara Petricca, Cristina Cariulo, Margherita Verani, Andrea Caricasole, Andrea Falqui, Gerardo Biella, Elena Cattaneo

Source: EMBO Molecular Medicine, Vol 12, Iss 10, Pp 1-20 (2020)

Subject Terms: aggregates, behavior, cholesterol, Huntington's disease, synapses, Medicine (General), R5-920, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

Access URL: https://doaj.org/article/89f06c9b7c8d4934b2e0285e4e423d49

Frataxin gene editing rescues Friedreich’s ataxia pathology in dorsal root ganglia organoid-derived sensory neurons

Authors: Pietro Giuseppe Mazzara, Sharon Muggeo, Mirko Luoni, Luca Massimino, Mattia Zaghi, Parisa Tajalli-Tehrani Valverde, Simone Brusco, Matteo Jacopo Marzi, Cecilia Palma, Gaia Colasante, Angelo Iannielli, Marianna Paulis, Chiara Cordiglieri, Serena Gea Giannelli, Paola Podini, Cinzia Gellera, Franco Taroni, Francesco Nicassio, Marco Rasponi, Vania Broccoli

Source: Nature Communications, Vol 11, Iss 1, Pp 1-18 (2020)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/b91a2f099cbf40dd993de29571b96be7

Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature

Authors: Lorenzo Nanetti, Daniela Di Bella, Stefania Magri, Mario Fichera, Elisa Sarto, Anna Castaldo, Alessia Mongelli, Silvia Baratta, Silvia Fenu, Marco Moscatelli, Maria Teresa Bonati, Andrea Martinuzzi, Caterina Mariotti, Franco Taroni

Source: Frontiers in Neurology, Vol 12 (2022)

Subject Terms: cerebellar ataxia, spastic paraplegia, hypogonadotropic hypogonadism, chorioretinal dystrophy, Gordon Holmes syndrome, Boucher Neuhauser syndrome, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2021.793547/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/8957f548cd91461c8ea823ea37956d21

RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum

Authors: Marisa I. Mendes, Lydia M. C. Green, Enrico Bertini, Davide Tonduti, Chiara Aiello, Desiree Smith, Ettore Salsano, Shanice Beerepoot, Jozef Hertecant, Sarah vonSpiczak, John H. Livingston, Lisa Emrick, Jamie Fraser, Laura Russell, Genevieve Bernard, Stefania Magri, Daniela Di Bella, Franco Taroni, Mary K. Koenig, Isabella Moroni, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Jullie Rhee, Bryce A. Mendelsohn, Ingo Helbig, Katherine Helbig, Hiltrud Muhle, Omar Ismayl, Adeline L. Vanderver, Gajja S. Salomons, Marjo S. van derKnaap, Nicole I. Wolf

Source: Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 83-93 (2020)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2328-9503

Access URL: https://doaj.org/article/0451d47dda844ada9b1700050648a958

Progression of Cerebellar Atrophy in Spinocerebellar Ataxia Type 2 Gene Carriers: A Longitudinal MRI Study in Preclinical and Early Disease Stages

Authors: Anna Nigri, Lidia Sarro, Alessia Mongelli, Chiara Pinardi, Luca Porcu, Anna Castaldo, Stefania Ferraro, Marina Grisoli, Maria Grazia Bruzzone, Cinzia Gellera, Franco Taroni, Caterina Mariotti, Lorenzo Nanetti

Source: Frontiers in Neurology, Vol 11 (2020)

Subject Terms: pre-symptomatic gene carriers, spinocerebellar ataxia (SCA2), cerebellar lobule segmentation, cortical thickness, cognitive assessment, cerebellar structural MRI, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2020.616419/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/0bef9478f641413f83fe1c7ca770bf4d

A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children

Authors: Claudia Ciaccio, Chiara Pantaleoni, Franco Taroni, Daniela Di Bella, Stefania Magri, Eleonora Lamantea, Daniele Ghezzi, Enza Maria Valente, Vincenzo Nigro, Stefano D’Arrigo

Source: Applied Sciences, Vol 11, Iss 5, p 2333 (2021)

Subject Terms: pediatric ataxias, cerebellar atrophy, genetic ataxias, Technology, Engineering (General). Civil engineering (General), TA1-2040, Biology (General), QH301-705.5, Physics, QC1-999, Chemistry, QD1-999

File Description: electronic resource

Relation: https://www.mdpi.com/2076-3417/11/5/2333; https://doaj.org/toc/2076-3417

Access URL: https://doaj.org/article/9313a7e49acd4bebaac1e6ab638c8d97

Are Inconclusive Decisions in Forensic Science as Deficient as They Are Said to Be?

Authors: Alex Biedermann, Silvia Bozza, Franco Taroni, Joëlle Vuille

Source: Frontiers in Psychology, Vol 10 (2019)

Subject Terms: forensic science, evidence evaluation, probabilistic inference, decision making, reporting formats, Psychology, BF1-990

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fpsyg.2019.00520/full; https://doaj.org/toc/1664-1078

Access URL: https://doaj.org/article/19f6abf1d88b40e98f72d06dabbab10c

Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation

Authors: Paola Saveri, Maria De Luca, Veronica Nisi, Chiara Pisciotta, Roberta Romano, Giuseppe Piscosquito, Mary M. Reilly, James M. Polke, Tiziana Cavallaro, Gian Maria Fabrizi, Paola Fossa, Elena Cichero, Raffaella Lombardi, Giuseppe Lauria, Stefania Magri, Franco Taroni, Davide Pareyson, Cecilia Bucci

Source: Cells, Vol 9, Iss 4, p 1028 (2020)

Subject Terms: RAB7A, Charcot–Marie–Tooth disease type 2B, CMT2B, peripheral sensory neuropathy, NGF, RAB7, Cytology, QH573-671

File Description: electronic resource

Relation: https://www.mdpi.com/2073-4409/9/4/1028; https://doaj.org/toc/2073-4409

Access URL: https://doaj.org/article/e40e8ec09c7a4d0ba4d9b2060ea96573

Statistical Adhockeries Are No Criteria for Legal Decisions—The Case of the Expert Medical Report on the Assessment of Urine Specimens Collected Among Athletes Having Participated to the Vancouver and Sochi Winter Olympic Games

Authors: Franco Taroni, Alex Biedermann, Joëlle Vuille, Silvia Bozza

Source: Frontiers in Sociology, Vol 3 (2018)

Subject Terms: legal decision making, doping in sports, statistics, forensic interpretation, Olympic Games, Sociology (General), HM401-1281

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fsoc.2018.00025/full; https://doaj.org/toc/2297-7775

Access URL: https://doaj.org/article/7c46ecea0db2455794f247c2a97ce03e

Commentary: Likelihood Ratio as Weight of Forensic Evidence: A Closer Look

Authors: Colin Aitken, Anders Nordgaard, Franco Taroni, Alex Biedermann

Source: Frontiers in Genetics, Vol 9 (2018)

Subject Terms: likelihood ratio, value of evidence, forensic science, logarithm, forensic reporting, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2018.00224/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/72ca2abf457648cbb9c36f8c05142b6a

Bayesian Networks for the Age Classification of Living Individuals: A Study on Transition Analysis

Authors: Emanuele Sironi, Franco Taroni

Source: Journal of Forensic Science and Medicine, Vol 1, Iss 2, Pp 124-132 (2015)

Subject Terms: Age estimation, Bayesian networks, forensic interpretation, forensic medicine, transition analysis, Public aspects of medicine, RA1-1270

File Description: electronic resource

Relation: http://www.jfsmonline.com/article.asp?issn=2349-5014;year=2015;volume=1;issue=2;spage=124;epage=132;aulast=Sironi; https://doaj.org/toc/2349-5014

Access URL: https://doaj.org/article/99c2e199af8e41bb9c2edf9df03a4951

Glutamine Synthetase 1 Increases Autophagy Lysosomal Degradation of Mutant Huntingtin Aggregates in Neurons, Ameliorating Motility in a Drosophila Model for Huntington’s Disease

Authors: Luisa Vernizzi, Chiara Paiardi, Giusimaria Licata, Teresa Vitali, Stefania Santarelli, Martino Raneli, Vera Manelli, Manuela Rizzetto, Mariarosa Gioria, Maria E. Pasini, Daniela Grifoni, Maria A. Vanoni, Cinzia Gellera, Franco Taroni, Paola Bellosta

Source: Cells, Vol 9, Iss 1, p 196 (2020)

Subject Terms: huntington’s disease, glutamine synthetase 1, autophagy, tor signaling, protein aggregates, drosophila model for neuronal degeneration, Cytology, QH573-671

File Description: electronic resource

Relation: https://www.mdpi.com/2073-4409/9/1/196; https://doaj.org/toc/2073-4409

Access URL: https://doaj.org/article/b0c23f7ef2ed4f918a4713db0e37249d