Zobrazeno 1 - 10
of 74
pro vyhledávání: '"ELENA MAESTRINI"'
Autor:
Marta Viggiano, Fabiola Ceroni, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Laura Sandoni, Irene Baravelli, Cinzia Cameli, Magali J. Rochat, Alessandra Maresca, Alessandro Vaisfeld, Davide Gentilini, Luciano Calzari, Valerio Carelli, Michael C. Zody, Elena Maestrini, Elena Bacchelli
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-15 (2024)
Abstract Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a strong genetic component in which rare variants contribute significantly to risk. We performed whole genome and/or exome sequencing (WGS and WES) and SNP-array a
Externí odkaz:
https://doaj.org/article/9acf2625b96d4dc9b71c18093b1268fb
Autor:
Leonardo Caporali, Claudio Fiorini, Flavia Palombo, Martina Romagnoli, Flavia Baccari, Corrado Zenesini, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Danara Ormanbekova, Agatino Battaglia, Raffaella Tancredi, Cinzia Cameli, Marta Viggiano, Anna Olivieri, Antonio Torroni, Elena Maestrini, Magali Jane Rochat, Elena Bacchelli, Valerio Carelli, Alessandra Maresca
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Autism spectrum disorder (ASD) is a clinically heterogeneous class of neurodevelopmental conditions with a strong, albeit complex, genetic basis. The genetic architecture of ASD includes different genetic models, from monogenic transmission at one en
Externí odkaz:
https://doaj.org/article/1c62301bd7b6428bb828f81a3fca9fbf
Autor:
Marta Viggiano, Tiziano D'Andrea, Cinzia Cameli, Annio Posar, Paola Visconti, Maria Cristina Scaduto, Roberta Colucci, Magali J. Rochat, Fabiola Ceroni, Giorgio Milazzo, Sergio Fucile, Elena Maestrini, Elena Bacchelli
Publikováno v:
Frontiers in Psychiatry, Vol 13 (2022)
Autism Spectrum Disorder (ASD) is a highly heterogeneous neuropsychiatric disorder with a strong genetic component. The genetic architecture is complex, consisting of a combination of common low-risk and more penetrant rare variants. Voltage-gated ca
Externí odkaz:
https://doaj.org/article/e10238dc37c34dca979b890d533909f4
Autor:
Magali Jane Rochat, Giacomo Distefano, Monica Maffei, Francesco Toni, Annio Posar, Maria Cristina Scaduto, Federica Resca, Cinzia Cameli, Elena Bacchelli, Elena Maestrini, Paola Visconti
Publikováno v:
Brain Sciences, Vol 10, Iss 10, p 741 (2020)
We examined the potential benefits of neuroimaging measurements across the first 5 years of life in detecting early comorbid or etiological signs of autism spectrum disorder (ASD). In particular, we analyzed the prevalence of neuroradiologic findings
Externí odkaz:
https://doaj.org/article/2175ff675d6c40fcaad7d0783ad53b7e
Autor:
Elena Bonora, Claudio Graziano, Fiorella Minopoli, Elena Bacchelli, Pamela Magini, Chiara Diquigiovanni, Silvia Lomartire, Francesca Bianco, Manuela Vargiolu, Piero Parchi, Elena Marasco, Vilma Mantovani, Luca Rampoldi, Matteo Trudu, Antonia Parmeggiani, Agatino Battaglia, Luigi Mazzone, Giada Tortora, IMGSAC, Elena Maestrini, Marco Seri, Giovanni Romeo
Publikováno v:
EMBO Molecular Medicine, Vol 6, Iss 6, Pp 795-809 (2014)
Abstract Intellectual disability (ID) and autism spectrum disorders (ASDs) are complex neuropsychiatric conditions, with overlapping clinical boundaries in many patients. We identified a novel intragenic deletion of maternal origin in two siblings wi
Externí odkaz:
https://doaj.org/article/719c40e8807c493794f7627dceec2567
Autor:
Claire S Leblond, Caroline Nava, Anne Polge, Julie Gauthier, Guillaume Huguet, Serge Lumbroso, Fabienne Giuliano, Coline Stordeur, Christel Depienne, Kevin Mouzat, Dalila Pinto, Jennifer Howe, Nathalie Lemière, Christelle M Durand, Jessica Guibert, Elodie Ey, Roberto Toro, Hugo Peyre, Alexandre Mathieu, Frédérique Amsellem, Maria Rastam, I Carina Gillberg, Gudrun A Rappold, Richard Holt, Anthony P Monaco, Elena Maestrini, Pilar Galan, Delphine Heron, Aurélia Jacquette, Alexandra Afenjar, Agnès Rastetter, Alexis Brice, Françoise Devillard, Brigitte Assouline, Fanny Laffargue, James Lespinasse, Jean Chiesa, François Rivier, Dominique Bonneau, Beatrice Regnault, Diana Zelenika, Marc Delepine, Mark Lathrop, Damien Sanlaville, Caroline Schluth-Bolard, Patrick Edery, Laurence Perrin, Anne Claude Tabet, Michael J Schmeisser, Tobias M Boeckers, Mary Coleman, Daisuke Sato, Peter Szatmari, Stephen W Scherer, Guy A Rouleau, Catalina Betancur, Marion Leboyer, Christopher Gillberg, Richard Delorme, Thomas Bourgeron
Publikováno v:
PLoS Genetics, Vol 10, Iss 9, p e1004580 (2014)
SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and maturation of dendritic spines, whereas SHANK1 induces the enlargement of
Externí odkaz:
https://doaj.org/article/baff5fce8b7e495e86bb1abb116c6895
Autor:
Claire S Leblond, Jutta Heinrich, Richard Delorme, Christian Proepper, Catalina Betancur, Guillaume Huguet, Marina Konyukh, Pauline Chaste, Elodie Ey, Maria Rastam, Henrik Anckarsäter, Gudrun Nygren, I Carina Gillberg, Jonas Melke, Roberto Toro, Beatrice Regnault, Fabien Fauchereau, Oriane Mercati, Nathalie Lemière, David Skuse, Martin Poot, Richard Holt, Anthony P Monaco, Irma Järvelä, Katri Kantojärvi, Raija Vanhala, Sarah Curran, David A Collier, Patrick Bolton, Andreas Chiocchetti, Sabine M Klauck, Fritz Poustka, Christine M Freitag, Regina Waltes, Marnie Kopp, Eftichia Duketis, Elena Bacchelli, Fiorella Minopoli, Liliana Ruta, Agatino Battaglia, Luigi Mazzone, Elena Maestrini, Ana F Sequeira, Barbara Oliveira, Astrid Vicente, Guiomar Oliveira, Dalila Pinto, Stephen W Scherer, Diana Zelenika, Marc Delepine, Mark Lathrop, Dominique Bonneau, Vincent Guinchat, Françoise Devillard, Brigitte Assouline, Marie-Christine Mouren, Marion Leboyer, Christopher Gillberg, Tobias M Boeckers, Thomas Bourgeron
Publikováno v:
PLoS Genetics, Vol 8, Iss 2, p e1002521 (2012)
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects
Externí odkaz:
https://doaj.org/article/03767000fd224a4884ce09193bcfd6c7
Autor:
Marta, Viggiano, Tiziano, D'Andrea, Cinzia, Cameli, Annio, Posar, Paola, Visconti, Maria Cristina, Scaduto, Roberta, Colucci, Magali J, Rochat, Fabiola, Ceroni, Giorgio, Milazzo, Sergio, Fucile, Elena, Maestrini, Elena, Bacchelli
Publikováno v:
Frontiers in psychiatry. 13
Autism Spectrum Disorder (ASD) is a highly heterogeneous neuropsychiatric disorder with a strong genetic component. The genetic architecture is complex, consisting of a combination of common low-risk and more penetrant rare variants. Voltage-gated ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::60314e8badf4c73573978cd496fa444b
https://pubmed.ncbi.nlm.nih.gov/35350424
https://pubmed.ncbi.nlm.nih.gov/35350424
Autor:
Paola Visconti, Maria Cristina Scaduto, Federica Resca, Francesco Toni, Giacomo Distefano, Elena Bacchelli, Magali Jane Rochat, Monica Maffei, Annio Posar, Cinzia Cameli, Elena Maestrini
Publikováno v:
Brain Sciences
Brain Sciences, Vol 10, Iss 741, p 741 (2020)
Volume 10
Issue 10
Brain Sciences, Vol 10, Iss 741, p 741 (2020)
Volume 10
Issue 10
We examined the potential benefits of neuroimaging measurements across the first 5 years of life in detecting early comorbid or etiological signs of autism spectrum disorder (ASD). In particular, we analyzed the prevalence of neuroradiologic findings
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc3951e3d75def370549fd99a052110d
https://pubmed.ncbi.nlm.nih.gov/33081247
https://pubmed.ncbi.nlm.nih.gov/33081247
Autor:
M Carta, Roberta Fadda, Cinzia Cameli, G. Doneddu, Ana Florencia Vega Benedetti, Elena Maestrini, Eleonora Loi, Patrizia Zavattari, Elena Bacchelli, Sylvain Blois, Loredana Moi
Publikováno v:
Journal of Cellular and Molecular Medicine
open 11 no This work was supported by grants from Fondazione Banco di Sardegna (FBS) (1175/2009.0470) to GD, from Associazione Italiana Studio Malformazioni (ASM) (2010) to PZ, from the Kyulan Family Foundation to EBa and from CINECA (computational r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::925278cdb9d17d0c8363cf2b6a535bba
https://doi.org/10.1111/jcmm.14733
https://doi.org/10.1111/jcmm.14733