Zobrazeno 1 - 10
of 67
pro vyhledávání: '"Francesca Forzano"'
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Externí odkaz:
https://doaj.org/article/96c789c819cc4c6c8d0acb91f3713e6a
Autor:
Pamela Magini, Clara Marco‐Marin, Juan M. Escamilla‐Honrubia, Diego Martinelli, Carlo Dionisi-Vici, Francesca Faravelli, Francesca Forzano, Marco Seri, Vicente Rubio, Emanuele Panza
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 8, Pp 1533-1540 (2019)
Abstract In 2015–2016, we and others reported ALDH18A1 mutations causing dominant (SPG9A) or recessive (SPG9B) spastic paraplegia. In vitro production of the ALDH18A1 product, Δ1‐pyrroline‐5‐carboxylate synthetase (P5CS), appeared necessary
Externí odkaz:
https://doaj.org/article/7aa5233fd46146998c984e96445517f0
Autor:
Ilaria Catusi, Maria Garzo, Anna Paola Capra, Silvana Briuglia, Chiara Baldo, Maria Paola Canevini, Rachele Cantone, Flaviana Elia, Francesca Forzano, Ornella Galesi, Enrico Grosso, Michela Malacarne, Angela Peron, Corrado Romano, Monica Saccani, Lidia Larizza, Maria Paola Recalcati
Publikováno v:
Genes, Vol 12, Iss 5, p 652 (2021)
To date only five patients with 8p23.2-pter microdeletions manifesting a mild-to-moderate cognitive impairment and/or developmental delay, dysmorphisms and neurobehavioral issues were reported. The smallest microdeletion described by Wu in 2010 sugge
Externí odkaz:
https://doaj.org/article/8f2c732d90e542918e900e0cefeb780b
Autor:
Esperanza Fernández, Elena Gennaro, Filomena Pirozzi, Chiara Baldo, Francesca Forzano, Licia Turolla, Francesca Faravelli, Denise Gastaldo, Domenico Coviello, Marina Grasso, Claudia Bagni
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Fragile X syndrome (FXS) is mostly caused by two distinct events that occur in the FMR1 gene (Xq27.3): an expansion above 200 repeats of a CGG triplet located in the 5′UTR of the gene, and methylation of the cytosines located in the CpG islands ups
Externí odkaz:
https://doaj.org/article/41b5c010e4e84727a7ef3cf87a440b65
Autor:
Valentina Guida, Luciano Calzari, Maria Teresa Fadda, Francesca Piceci-Sparascio, Maria Cristina Digilio, Laura Bernardini, Francesco Brancati, Teresa Mattina, Daniela Melis, Francesca Forzano, Silvana Briuglia, Tommaso Mazza, Sebastiano Bianca, Enza Maria Valente, Leila Bagherjad Salehi, Paolo Prontera, Mario Pagnoni, Romano Tenconi, Bruno Dallapiccola, Giorgio Iannetti, Luigi Corsaro, Alessandro De Luca, Davide Gentilini
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 3, p 1190 (2021)
Oculo-auriculo-vertebral-spectrum (OAVS; OMIM 164210) is a rare disorder originating from abnormal development of the first and second branchial arch. The clinical phenotype is extremely heterogeneous with ear anomalies, hemifacial microsomia, ocular
Externí odkaz:
https://doaj.org/article/85266ac91354400bba77ed6746278dbb
Autor:
Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie-Pier Scott-Boyer, Geeske M. van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka-Turski, Tianyun Wang, Tzung-Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M.W. Teurlings, Virginie Vignard, Richard H. van Jaarsveld, Lesley Ades, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn C.J. Jongmans, F. Sessions Cole, Marie-José H. van den Boogaard, Jennifer A. Wambach, Daniel J. Wegner, Sandra Yang, Vickie Hannig, Jennifer Ann Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan Towne, Kristine Bachman, Andrea Seeley, Anita E. Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T. Carter, Matthew Osmond, Patricia G. Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hakon Hakonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René Günther Feichtinger, Johannes Adalbert Mayr, Martin Preisel, Frédéric Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter Krawitz, Uwe Völker, Elke Hammer, Arnaud Droit, Evan E. Eichler, Ype Elgersma, Peter W. Hildebrand, François Bolduc, Elke Krüger, Stéphane Bézieau
Publikováno v:
Science Translational Medicine, 15(698):eabo3189. American Association for the Advancement of Science
A critical step in preserving protein homeostasis is the recognition, binding, unfolding, and translocation of protein substrates by six AAA-ATPase proteasome subunits (ATPase-associated with various cellular activities) termed PSMC1-6, which are req
Autor:
Alistair T. Pagnamenta, Jing Yu, Tracey A. Willis, Mona Hashim, Eleanor G. Seaby, Susan Walker, Jiaqi Xian, Emily W. Y. Cheng, Ana Lisa Taylor Tavares, Francesca Forzano, Helen Cox, Tabib Dabir, Angela F. Brady, Neeti Ghali, Santosh S. Atanur, Sarah Ennis, Diana Baralle, Jenny C. Taylor
Publikováno v:
Human Mutation.
SRRM2 encodes a splicing factor recently implicated in developmental disorders due to a statistical enrichment of de novo mutations. Using data from the 100,000 Genomes Project, four unrelated individuals with intellectual disability (ID) were identi
Autor:
Francesca, Forzano, Olga, Antonova, Angus, Clarke, Guido, de Wert, Sabine, Hentze, Yalda, Jamshidi, Yves, Moreau, Markus, Perola, Inga, Prokopenko, Andrew, Read, Alexandre, Reymond, Vigdis, Stefansdottir, Carla, van El, Maurizio, Genuardi, Fiona, Ulph
Publikováno v:
European journal of human genetics : EJHG.
Autor:
Maria Teresa Fadda, Sebastiano Bianca, Dario Cocciadiferro, Bruno Dallapiccola, Marina Goldoni, Maria Grazia Giuffrida, Bruno Marino, Silvana Briuglia, Marco Tartaglia, Leila B. Salehi, Valentina Guida, Francesca Forzano, Orazio Palumbo, Francesco Benedicenti, Francesco Pancheri, Franco Stanzial, Laura Bernardini, Daniela Melis, Marco Castori, Giorgio Iannetti, Teresa Mattina, Marianna Puzzo, Hossein Hozhabri, Chiara Barone, Massimo Carella, Carolina Putotto, Alessandro De Luca, Francesca Piceci Sparascio, Maria Cristina Digilio, Francesco Brancati, Mario Pagnoni, Ariana Kariminejad
Publikováno v:
Clinical Genetics. 100:268-279
Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder of craniofacial morphogenesis. Its etiology is unclear, but assumed to be complex and heterogeneous, with contribution of both genetic and environmental factors. We assessed the occ
Autor:
Filomena Pirozzi, Matthew Berkseth, Rylee Shear, Lorenzo Gonzalez, Andrew E Timms, Josef Sulc, Emily Pao, Nora Oyama, Francesca Forzano, Valerio Conti, Renzo Guerrini, Emily S Doherty, Sulagna C Saitta, Christina M Lockwood, Colin C Pritchard, William B Dobyns, Edward Novotny, Jason N N Wright, Russell P Saneto, Seth Friedman, Jason Hauptman, Jeffrey Ojemann, Raj P Kapur, Ghayda M Mirzaa
Publikováno v:
Brain
Focal malformations of cortical development including focal cortical dysplasia, hemimegalencephaly and megalencephaly, are a spectrum of neurodevelopmental disorders associated with brain overgrowth, cellular and architectural dysplasia, intractable
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2397bd3ea16416ac521c3b8e3fc6a7e3
https://europepmc.org/articles/PMC9630661/
https://europepmc.org/articles/PMC9630661/