Zobrazeno 1 - 10
of 212
pro vyhledávání: '"Renata, Rizzo"'
Autor:
Lara Cirnigliaro, Luisa Clericò, Lorenza Chiara Russo, Adriana Prato, Manuela Caruso, Renata Rizzo, Rita Barone
Publikováno v:
Frontiers in Psychiatry, Vol 15 (2024)
BackgroundMacrocephaly is described in almost 15% of children with Autism Spectrum Disorder (ASD). Relationships between head growth trajectories and clinical findings in ASD children show a high degree of variability, highlighting the complex hetero
Externí odkaz:
https://doaj.org/article/399e1813db1b4ba3b880ac5f46203e02
Autor:
Lara Cirnigliaro, Fabio Pettinato, Maria Stella Valle, Antonino Casabona, Agata Fiumara, Michele Vecchio, Valerio Amico, Renata Rizzo, Jaak Jaeken, Rita Barone, Matteo Cioni
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background Congenital disorders of glycosylation (CDG) are genetic diseases caused by impaired synthesis of glycan moieties linked to glycoconjugates. Phosphomannomutase 2 deficiency (PMM2-CDG), the most frequent CDG, is characterized by pro
Externí odkaz:
https://doaj.org/article/578fe2cc12a8448689f04eac191e05e3
Autor:
Adriana Prato, Federica Saia, Marianna Ferrigno, Valentina Finocchiaro, Rita Barone, Renata Rizzo
Publikováno v:
Frontiers in Psychiatry, Vol 15 (2024)
BackgroundTourette syndrome (TS) and autism spectrum disorder (ASD) are two neurodevelopmental disorders with an onset before the age of 18 years. TS patients frequently reported atypical sensory phenomena (SP). Sensory processing abnormalities are a
Externí odkaz:
https://doaj.org/article/ecb52f6b31444b6d8ca0879a6f6a23dc
Autor:
Pritesh R. Jain, Myson Burch, Melanie Martinez, Pablo Mir, Jakub P. Fichna, Cezary Zekanowski, Renata Rizzo, Zeynep Tümer, Csaba Barta, Evangelia Yannaki, John Stamatoyannopoulos, Petros Drineas, Peristera Paschou
Publikováno v:
BMC Genomic Data, Vol 24, Iss 1, Pp 1-12 (2023)
Abstract Complex disorders are caused by a combination of genetic, environmental and lifestyle factors, and their prevalence can vary greatly across different populations. The extent to which genetic risk, as identified by Genome Wide Association Stu
Externí odkaz:
https://doaj.org/article/8998ed9cbc534c00a98e747b63320443
Autor:
Ferruccio Romano, Elisabetta Amadori, Francesca Madia, Mariasavina Severino, Valeria Capra, Renata Rizzo, Rita Barone, Beatrice Corradi, Luca Maragliano, Mohammad Sadegh Shams Nosrati, Antonio Falace, Pasquale Striano, Federico Zara, Marcello Scala
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Rotatin, encoded by the RTTN gene, is a centrosomal protein with multiple, emerging functions, including left-right specification, ciliogenesis, and neuronal migration. Recessive variants in RTTN are associated with a neurodevelopmental disorder with
Externí odkaz:
https://doaj.org/article/f31b7188a4fb46e98c9c34516b293263
Autor:
Adriana Prato, Angela Maria Salerno, Federica Saia, Nicoletta Maugeri, Alice Zanini, Miriam Scerbo, Rita Barone, Renata Rizzo
Publikováno v:
BMC Pediatrics, Vol 23, Iss 1, Pp 1-10 (2023)
Abstract Background Tourette Syndrome (TS) is a childhood-onset neurodevelopmental disorder with a worldwide prevalence of about 0.3–1% of the population. During the pandemic caused by SARS-CoV-2 infection, the impact on the mental health of childr
Externí odkaz:
https://doaj.org/article/486212da17274b75b709970c3d77cc1c
Autor:
Pritesh Jain, Tyne Miller-Fleming, Apostolia Topaloudi, Dongmei Yu, Petros Drineas, Marianthi Georgitsi, Zhiyu Yang, Renata Rizzo, Kirsten R. Müller-Vahl, Zeynep Tumer, Nanette Mol Debes, Andreas Hartmann, Christel Depienne, Yulia Worbe, Pablo Mir, Danielle C. Cath, Dorret I. Boomsma, Veit Roessner, Tomasz Wolanczyk, Piotr Janik, Natalia Szejko, Cezary Zekanowski, Csaba Barta, Zsofia Nemoda, Zsanett Tarnok, Joseph D. Buxbaum, Dorothy Grice, Jeffrey Glennon, Hreinn Stefansson, Bastian Hengerer, Noa Benaroya-Milshtein, Francesco Cardona, Tammy Hedderly, Isobel Heyman, Chaim Huyser, Astrid Morer, Norbert Mueller, Alexander Munchau, Kerstin J. Plessen, Cesare Porcelli, Susanne Walitza, Anette Schrag, Davide Martino, The Psychiatric Genomics Consortium Tourette Syndrome Working Group (PGC-TS), The EMTICS collaborative group, Andrea Dietrich, The TS-EUROTRAIN Network, Carol A. Mathews, Jeremiah M. Scharf, Pieter J. Hoekstra, Lea K. Davis, Peristera Paschou
Publikováno v:
Translational Psychiatry, Vol 13, Iss 1, Pp 1-10 (2023)
Abstract Tourette Syndrome (TS) is a complex neurodevelopmental disorder characterized by vocal and motor tics lasting more than a year. It is highly polygenic in nature with both rare and common previously associated variants. Epidemiological studie
Externí odkaz:
https://doaj.org/article/0f10e24c351c4984a4de93efa5a3d079
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2023)
BackgroundFunctional tics are included in the wide spectrum of functional movement disorders (FMDs). Their distinction from organic tics is challenging because they both phenomenologically present common features. During the COVID-19 pandemic, there
Externí odkaz:
https://doaj.org/article/d66a2fea14a143b3932c44482f23e220
Autor:
Piero Pavone, Federica Saia, Xena Pappalardo, Massimo Barbagallo, Adriana Prato, Renata Rizzo
Publikováno v:
Clinical Case Reports, Vol 10, Iss 12, Pp n/a-n/a (2022)
Abstract Zhu‐Tokita‐Tachenouchi‐Kim syndrome (ZTTK) is a recently recognized malformation syndrome presenting with craniofacial dysmorphism, developmental delay/intellectual disability, seizures, anomalies involving brain white matter, and othe
Externí odkaz:
https://doaj.org/article/749d71e2659e4e26b93a85d8fac7d1cf
Publikováno v:
Reports, Vol 6, Iss 3, p 30 (2023)
The chromosome 17q21.31 microduplication syndrome is a rare genetic syndrome presenting with craniofacial dysmorphisms, psychomotor delay, microcephaly, behavioral disorders, and poor social interaction. Only ten patients have been reported in the li
Externí odkaz:
https://doaj.org/article/01c776534aa94bf38963892b8b380c6d