Zobrazeno 1 - 10
of 224
pro vyhledávání: '"CINZIA GELLERA"'
Autor:
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
Publikováno v:
Epilepsia Open, Vol 9, Iss 5, Pp 1922-1930 (2024)
Abstract Objective The objective of this study is to report the results of the genetic analysis in a large and well‐characterized population with pediatric‐onset epilepsies and to identify those who could benefit from precision medicine treatment
Externí odkaz:
https://doaj.org/article/d468767ad5234ec49d894b0eed7f70a2
Autor:
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
Publikováno v:
Cell Death and Disease, Vol 15, Iss 9, Pp 1-16 (2024)
Abstract Mutations targeting distinct domains of the neuron-specific kinesin KIF5A associate with different neurodegenerative/neurodevelopmental disorders, but the molecular bases of this clinical heterogeneity are unknown. We characterised five key
Externí odkaz:
https://doaj.org/article/4ee9d6c2a3624724948ed40d302b0625
Autor:
Ilaria Mosca, Elena Freri, Paolo Ambrosino, Giorgio Belperio, Tiziana Granata, Laura Canafoglia, Francesca Ragona, Roberta Solazzi, Ilaria Filareto, Barbara Castellotti, Giuliana Messina, Cinzia Gellera, Jacopo C. DiFrancesco, Maria Virginia Soldovieri, Maurizio Taglialatela
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 18 (2024)
Variants in KCNT1 are associated with a wide spectrum of epileptic phenotypes, including epilepsy of infancy with migrating focal seizures (EIMFS), non-EIMFS developmental and epileptic encephalopathies, autosomal dominant or sporadic sleep-related h
Externí odkaz:
https://doaj.org/article/bb28e5e73dc348f28be4039a009a995c
Autor:
Barbara Castellotti, Laura Canafoglia, Elena Freri, Maria Tappatà, Giuliana Messina, Stefania Magri, Jacopo C. DiFrancesco, Martina Fanella, Carlo Di Bonaventura, Alessandra Morano, Tiziana Granata, Cinzia Gellera, Silvana Franceschetti, Roberto Michelucci
Publikováno v:
Epilepsia Open, Vol 8, Iss 2, Pp 645-650 (2023)
Abstract Variants of SEMA6B have been identified in an increasing number of patients, often presenting with progressive myoclonus epilepsy (PME), and to lesser extent developmental encephalopathy, with or without epilepsy. The exon 17 is mainly invol
Externí odkaz:
https://doaj.org/article/7d3e80dc6a6a41d896d2acfe7678f400
Autor:
Ahmad Al Khleifat, Alfredo Iacoangeli, Joke J. F. A. van Vugt, Harry Bowles, Matthieu Moisse, Ramona A. J. Zwamborn, Rick A. A. van der Spek, Aleksey Shatunov, Johnathan Cooper-Knock, Simon Topp, Ross Byrne, Cinzia Gellera, Victoria López, Ashley R. Jones, Sarah Opie-Martin, Atay Vural, Yolanda Campos, Wouter van Rheenen, Brendan Kenna, Kristel R. Van Eijk, Kevin Kenna, Markus Weber, Bradley Smith, Isabella Fogh, Vincenzo Silani, Karen E. Morrison, Richard Dobson, Michael A. van Es, Russell L. McLaughlin, Patrick Vourc’h, Adriano Chio, Philippe Corcia, Mamede de Carvalho, Marc Gotkine, Monica P. Panades, Jesus S. Mora, Pamela J. Shaw, John E. Landers, Jonathan D. Glass, Christopher E. Shaw, Nazli Basak, Orla Hardiman, Wim Robberecht, Philip Van Damme, Leonard H. van den Berg, Jan H. Veldink, Ammar Al-Chalabi
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-8 (2022)
Abstract There is a strong genetic contribution to Amyotrophic lateral sclerosis (ALS) risk, with heritability estimates of up to 60%. Both Mendelian and small effect variants have been identified, but in common with other conditions, such variants o
Externí odkaz:
https://doaj.org/article/2c1accb04c5e475dbe0325f3e155c28c
Autor:
Serena Santangelo, Patrizia Bossolasco, Stefania Magri, Claudia Colombrita, Sabrina Invernizzi, Cinzia Gellera, Lorenzo Nanetti, Daniela Di Bella, Vincenzo Silani, Franco Taroni, Antonia Ratti
Publikováno v:
Stem Cell Research, Vol 66, Iss , Pp 103008- (2023)
We generated an iPSC line from a patient with spastic paraplegia type 10 (SPG10) carrying the novel missense variant c.50G > A (p.R17Q) in the N-terminal motor domain of the kinesin family member 5A (KIF5A) gene.This patient-derived in vitro cell mod
Externí odkaz:
https://doaj.org/article/a75a2c3ab14a42fdab4634051f262944
Autor:
Alberto Brusati, Antonia Ratti, Viviana Pensato, Silvia Peverelli, Davide Gentilini, Eleonora Dalla Bella, Marta Nice Sorce, Megi Meneri, Delia Gagliardi, Stefania Corti, Cinzia Gellera, Giuseppe Lauria Pinter, Nicola Ticozzi, Vincenzo Silani
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting upper and/or lower motor neurons and characterized by complex etiology. Familial cases show high genetic heterogeneity and sporadic cases (90%) are associated wi
Externí odkaz:
https://doaj.org/article/2bbf59dadc1c41bdad2d245deacfabd8
Autor:
Silvia Bonanno, Paola Cavalcante, Erika Salvi, Eleonora Giagnorio, Claudia Malacarne, Marco Cattaneo, Francesca Andreetta, Anna Venerando, Viviana Pensato, Cinzia Gellera, Riccardo Zanin, Maria Teresa Arnoldi, Claudia Dosi, Renato Mantegazza, Riccardo Masson, Lorenzo Maggi, Stefania Marcuzzo
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 16 (2022)
Background and objectivesMultisystem involvement in spinal muscular atrophy (SMA) is gaining prominence since different therapeutic options are emerging, making the way for new SMA phenotypes and consequent challenges in clinical care. Defective immu
Externí odkaz:
https://doaj.org/article/2c3d2def91f54c2e9bdb62f8366a15f0
Autor:
Ilaria Mosca, Ilaria Rivolta, Audrey Labalme, Paolo Ambrosino, Barbara Castellotti, Cinzia Gellera, Tiziana Granata, Elena Freri, Anna Binda, Gaetan Lesca, Jacopo C. DiFrancesco, Maria Virginia Soldovieri, Maurizio Taglialatela
Publikováno v:
Frontiers in Pharmacology, Vol 13 (2022)
Pathogenic variants in KCNQ2 encoding for Kv7.2 potassium channel subunits have been found in patients affected by widely diverging epileptic phenotypes, ranging from Self-Limiting Familial Neonatal Epilepsy (SLFNE) to severe Developmental and Epilep
Externí odkaz:
https://doaj.org/article/748e8ad004ae4546ab0b3b0ff6a1ecdb
Autor:
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
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-18 (2020)
Friedreich’s ataxia (FRDA) is an autosomal-recessive disorder. Here the authors describe a DRG organoid from patient derived-neurons and co-culture with muscle cells to mimic the disorder in vitro and demonstrate potential correction of the phenoty
Externí odkaz:
https://doaj.org/article/b91a2f099cbf40dd993de29571b96be7