Zobrazeno 1 - 10
of 159
pro vyhledávání: '"Laura Canafoglia"'
Autor:
Antonella Riva, Gianluca D'Onofrio, Edoardo Ferlazzo, Angelo Pascarella, Elena Pasini, Silvana Franceschetti, Ferruccio Panzica, Laura Canafoglia, Aglaia Vignoli, Antonietta Coppola, Valeria Badioni, Francesca Beccaria, Angelo Labate, Antonio Gambardella, Antonino Romeo, Giuseppe Capovilla, Roberto Michelucci, Pasquale Striano, Vincenzo Belcastro
Publikováno v:
Epilepsia Open, Vol 9, Iss 2, Pp 486-500 (2024)
Abstract Myoclonus classically presents as a brief (10–50 ms duration), non‐rhythmic jerk movement. The etiology could vary considerably ranging from self‐limited to chronic or even progressive disorders, the latter falling into encephalopathic
Externí odkaz:
https://doaj.org/article/e291eaca018d45fbb7678166b20955d8
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:
Davide Caputo, Silvana Franceschetti, Barbara Castellotti, Elena Freri, G. Zorzi, Veronica Saletti, Laura Canafoglia, Tiziana Granata
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
We report the clinical and EEG data of two patients harboring heterozygous SLC6A1 mutations, who presented with typical absence seizures at 3 Hz spike and wave as well as with mild cognitive disability. Neuroradiological and other laboratory investig
Externí odkaz:
https://doaj.org/article/3b6c80eb908540a0a6b9969a5acd258e
Autor:
Patrizia Bossolasco, Sara Cimini, Emanuela Maderna, Donatella Bardelli, Laura Canafoglia, Tiziana Cavallaro, Martina Ricci, Vincenzo Silani, Gianluca Marucci, Giacomina Rossi
Publikováno v:
Neurobiology of Disease, Vol 175, Iss , Pp 105891- (2022)
Heterozygous mutations in the gene coding for progranulin (GRN) cause frontotemporal lobar degeneration (FTLD) while homozygous mutations are linked to neuronal ceroidolipofuscinosis (NCL). While both FTLD/NCL pathological hallmarks were mostly inves
Externí odkaz:
https://doaj.org/article/e840ac6da1584dd5b39f1a168967932f
A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies
Autor:
Tobias Baumgartner, Mar Carreño, Rodrigo Rocamora, Francesca Bisulli, Antonella Boni, Milan Brázdil, Ondrej Horak, Dana Craiu, Cristina Pereira, Renzo Guerrini, Victoria San Antonio‐Arce, Andreas Schulze‐Bonhage, Sameer M. Zuberi, Tove Hallböök, Reetta Kalviainen, Lieven Lagae, Sylvie Nguyen, Sofia Quintas, Ana Franco, J. Helen Cross, Matthew Walker, Alexis Arzimanoglou, Sylvain Rheims, Tiziana Granata, Laura Canafoglia, Cecilie Johannessen Landmark, Arjune Sen, Rohini Rattihalli, Rima Nabbout, Elena Tartara, Manuela Santos, Rui Rangel, Pavel Krsek, Petr Marusic, Nicola Specchio, Kees P. J. Braun, Patricia Smeyers, Vicente Villanueva, Katarzyna Kotulska, Rainer Surges
Publikováno v:
Epilepsia Open, Vol 6, Iss 1, Pp 160-170 (2021)
Abstract Objective Clinical care of rare and complex epilepsies is challenging, because evidence‐based treatment guidelines are scarce, the experience of many physicians is limited, and interdisciplinary treatment of comorbidities is required. The
Externí odkaz:
https://doaj.org/article/69517d96215647e1a494c4132cfe2998
Autor:
Mark A. Corbett, Thessa Kroes, Liana Veneziano, Mark F. Bennett, Rahel Florian, Amy L. Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa, Aaron Wenger, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid Regan, Douglas Crompton, Anne-Fleur van Rootselaar, Anthony Correll, Rachael Catford, Francesca Bisulli, Shreyasee Chakraborty, Sara Baldassari, Paolo Tinuper, Kirston Barton, Shaun Carswell, Martin Smith, Alfredo Berardelli, Renee Carroll, Alison Gardner, Kathryn L. Friend, Ilan Blatt, Michele Iacomino, Carlo Di Bonaventura, Salvatore Striano, Julien Buratti, Boris Keren, Caroline Nava, Sylvie Forlani, Gabrielle Rudolf, Edouard Hirsch, Eric Leguern, Pierre Labauge, Simona Balestrini, Josemir W. Sander, Zaid Afawi, Ingo Helbig, Hiroyuki Ishiura, Shoji Tsuji, Sanjay M. Sisodiya, Giorgio Casari, Lynette G. Sadleir, Riaan van Coller, Marina A. J. Tijssen, Karl Martin Klein, Arn M. J. M. van den Maagdenberg, Federico Zara, Renzo Guerrini, Samuel F. Berkovic, Tommaso Pippucci, Laura Canafoglia, Melanie Bahlo, Pasquale Striano, Ingrid E. Scheffer, Francesco Brancati, Christel Depienne, Jozef Gecz
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
Familial cortical myoclonic tremor (FAME) has so far been mapped to regions on chromosome 2, 3, 5 and 8 and pentameric repeat expansions in SAMD12 were identified as cause of FAME1. Here, Corbett et al. identify ATTTT/ATTTC repeat expansions in intro
Externí odkaz:
https://doaj.org/article/752a22f841ae41c284ab977e7ffdeead
Autor:
Sara Cimini, Sonia Bellini, Claudia Saraceno, Luisa Benussi, Roberta Ghidoni, Silvia Clara Giliani, Gianfranco Puoti, Laura Canafoglia, Giorgio Giaccone, Giacomina Rossi
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 22, p 13753 (2022)
Frontotemporal lobar degeneration (FTLD) is a complex disease, characterized by progressive degeneration of frontal and temporal lobes. Mutations in progranulin (GRN) gene have been found in up to 50% of patients with familial FTLD. Abnormal deposits
Externí odkaz:
https://doaj.org/article/849d95cbc1cb418e9472d4a843ea09b1
Autor:
Sonia Bellini, Claudia Saraceno, Luisa Benussi, Andrea Geviti, Antonio Longobardi, Roland Nicsanu, Sara Cimini, Martina Ricci, Laura Canafoglia, Cinzia Coppola, Gianfranco Puoti, Giuliano Binetti, Giacomina Rossi, Roberta Ghidoni
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 18, p 10693 (2022)
Emerging data suggest the roles of endo-lysosomal dysfunctions in frontotemporal lobar degeneration (FTLD) and in other dementias. Cathepsin D is one of the major lysosomal proteases, mediating the degradation of unfolded protein aggregates. In this
Externí odkaz:
https://doaj.org/article/ad546297590c41e48546528c09493221
Autor:
Francesca Bisulli, Lorenzo Muccioli, Giuseppe d’Orsi, Laura Canafoglia, Elena Freri, Laura Licchetta, Barbara Mostacci, Patrizia Riguzzi, Federica Pondrelli, Carlo Avolio, Tommaso Martino, Roberto Michelucci, Paolo Tinuper
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-5 (2019)
Abstract Background Lafora disease (LD) is a rare, lethal, progressive myoclonus epilepsy for which no targeted therapy is currently available. Studies on a mouse model of LD showed a good response to metformin, a drug with a well known neuroprotecti
Externí odkaz:
https://doaj.org/article/8038875c56df41ce80d5cee5e149995b