Zobrazeno 1 - 10
of 312
pro vyhledávání: '"Roberta Battini"'
Autor:
Louise Gallagher, Michael Absoud, Miguel Castelo-Branco, Tony Charman, Maja Hempel, Richard Delorme, Guiomar Oliveira, Roberta Battini, Sven Bölte, Claire S Leblond, Thomas Bourgeron, Alexandra Lautarescu, Mercedes Serrano, Federico Vigevano, Christian P Schaaf, Bethany Oakley, Julian Tillmann, Pierre Violland, Declan G M Murphy, Sarah Douglas, Paolo Bonanni, Grainne McAlonan, Roberta Milone, Josefina Castro-Fornieles, Madeleine Bloomfield, Síofra Heraty, Roderik Plas, Anjuli Ghosh, Katrien Van den Bosch, Eliza Eaton, Ana Blázquez Hinojosa, Nadia Bolshakova, Jacqueline Borg, Sara Calderoni, Rosa Calvo Escalona, Pilar Caro, Freddy Cliquet, Alberto Danieli, Maurizio Elia, Nuno Madeira, Ciara J Molloy, Susana Mouga, Virginia Montiel, Ana Pina Rodrigues, Kristiina Tammimies, Charlotte Tye, Beatrice Mazzone, Cara O’Neill, Julie Pender, Verena Romero, Christopher Chatham
Publikováno v:
BMJ Open, Vol 14, Iss 6 (2024)
Introduction Autism is a common neurodevelopmental condition with a complex genetic aetiology that includes contributions from monogenic and polygenic factors. Many autistic people have unmet healthcare needs that could be served by genomics-informed
Externí odkaz:
https://doaj.org/article/815fdc95324e48c4ab0f1f29dd80968c
Autor:
Carmen Salluce, Marco Cocciante, Marisa Gazzillo, Anna Rita Ferrari, Roberta Battini, Filippo Maria Santorelli, Emanuele Bartolini
Publikováno v:
Brain Sciences, Vol 14, Iss 7, p 670 (2024)
Dysautonomic disorders are an increasingly studied group of conditions, either as isolated diseases or associated with other neurological disorders. There is growing interest in understanding how dysautonomia affects people with epilepsy, who may rep
Externí odkaz:
https://doaj.org/article/f9e811f2364c44cf97586ef937996f7f
Autor:
Gaetano Celardo, Elena Scaffei, Bianca Buchignani, Graziella Donatelli, Mauro Costagli, Paola Cristofani, Raffaello Canapicchi, Rosa Pasquariello, Michela Tosetti, Roberta Battini, Laura Biagi
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Chemotherapy and radiotherapy are widely used in the treatment of central nervous system tumors and acute lymphocytic leukemia even in the pediatric population. However, such treatments run the risk of a broad spectrum of cognitive and neurological d
Externí odkaz:
https://doaj.org/article/ff2aab9ce67845dd819746ebc182c36c
Autor:
Carlotta Spagnoli, Roberta Battini, Filippo Manti, Duccio Maria Cordelli, Andrea Pession, Melissa Bellini, Andrea Bordugo, Gaetano Cantalupo, Antonella Riva, Pasquale Striano, Marco Spada, Francesco Porta, Carlo Fusco
Publikováno v:
Behavioural Neurology, Vol 2024 (2024)
Introduction. AADCd is an ultrarare, underdiagnosed neurometabolic disorder for which a screening test (3-OMD dosing on dried blood spot (DBS)) and targeted gene therapy (authorized in the EU and the UK) are available. Therefore, it is mandatory to r
Externí odkaz:
https://doaj.org/article/14bb14f2996c4f5da9b495ff7750dc88
Autor:
Stefania Della Vecchia, Alessandra Tessa, Rosa Pasquariello, Luis Seabra, Yanick J. Crow, Roberta Battini
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 5, p 2864 (2024)
NOTCH1-related leukoencephalopathy is a new diagnostic entity linked to heterozygous gain-of-function variants in NOTCH1 that neuroradiologically show some overlap with the inflammatory microangiopathy Aicardi-Goutières syndrome (AGS). To report a 1
Externí odkaz:
https://doaj.org/article/4d67b7220736480294da3c5d74b30253
Autor:
Elena Scaffei, Bianca Buchignani, Rosa Pasquariello, Paola Cristofani, Raffaello Canapicchi, Laura Biagi, Flavio Giordano, Emanuela De Marco, Yanick J. Crow, Roberta Battini
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Leukoencephalopathy with Calcifications and Cysts (LCC) is a rare genetic microangiopathy exclusively affecting the central nervous system caused by biallelic mutations in SNORD118. Brain magnetic resonance imaging (MRI) is often diagnostic due to th
Externí odkaz:
https://doaj.org/article/9f2169f42ea446c2a44a8bd1b2a626c0
Autor:
Valentina Menici, Roberta Scalise, Alessio Fasano, Egidio Falotico, Nevio Dubbini, Giuseppe Prencipe, Giuseppina Sgandurra, Silvia Filogna, Roberta Battini
Publikováno v:
Bioengineering, Vol 11, Iss 2, p 176 (2024)
Considering the variability and heterogeneity of motor impairment in children with Movement Disorders (MDs), the assessment of postural control becomes essential. For its assessment, only a few tools objectively quantify and recognize the difference
Externí odkaz:
https://doaj.org/article/81d2bb0fbe93410d96b04ba83fc05c49
Autor:
Francesca Dragoni, Jessica Garau, Simona Orcesi, Costanza Varesio, Matteo Bordoni, Eveljn Scarian, Rosalinda Di Gerlando, Elisa Fazzi, Roberta Battini, Altea Gjurgjaj, Bartolo Rizzo, Orietta Pansarasa, Stella Gagliardi
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
IntroductionAicardi-Goutières Syndrome (AGS) is a rare encephalopathy with early onset that can be transmitted in both dominant and recessive forms. Its phenotypic covers a wide range of neurological and extraneurological symptoms. Nine genes that a
Externí odkaz:
https://doaj.org/article/dd6e03fe69e043489e3657af9982e843
Autor:
Aurora Fusto, Denise Cassandrini, Chiara Fiorillo, Valentina Codemo, Guja Astrea, Adele D’Amico, Lorenzo Maggi, Francesca Magri, Marika Pane, Giorgio Tasca, Daniele Sabbatini, Luca Bello, Roberta Battini, Pia Bernasconi, Fabiana Fattori, Enrico Silvio Bertini, Giacomo Comi, Sonia Messina, Tiziana Mongini, Isabella Moroni, Chiara Panicucci, Angela Berardinelli, Alice Donati, Vincenzo Nigro, Antonella Pini, Melania Giannotta, Claudia Dosi, Enzo Ricci, Eugenio Mercuri, Giovanni Minervini, Silvio Tosatto, Filippo Santorelli, Claudio Bruno, Elena Pegoraro
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-20 (2022)
Abstract Mutations in the RYR1 gene, encoding ryanodine receptor 1 (RyR1), are a well-known cause of Central Core Disease (CCD) and Multi-minicore Disease (MmD). We screened a cohort of 153 patients carrying an histopathological diagnosis of core myo
Externí odkaz:
https://doaj.org/article/3ed5f40b63494afb99f982bee9a3292a
Autor:
Chenelle A. Caron-Godon, Stefania Della Vecchia, Alessandro Romano, Stefano Doccini, Flavio Dal Canto, Rosa Pasquariello, Anna Rubegni, Roberta Battini, Filippo Maria Santorelli, D. Moira Glerum, Claudia Nesti
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 23, p 16636 (2023)
Genetic defects in the nuclear encoded subunits and assembly factors of cytochrome c oxidase (mitochondrial complex IV) are very rare and are associated with a wide variety of phenotypes. Biallelic pathogenic variants in the COX11 protein were previo
Externí odkaz:
https://doaj.org/article/b9810c181f33489dbe67343dcd693641