Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Francesca Romana Di Raimo"'
Autor:
Chiara Passarelli, Rita Selvatici, Alberto Carrieri, Francesca Romana Di Raimo, Maria Sofia Falzarano, Fernanda Fortunato, Rachele Rossi, Volker Straub, Katie Bushby, Mojgan Reza, Irina Zharaieva, Adele D’Amico, Enrico Bertini, Luciano Merlini, Patrizia Sabatelli, Paola Borgiani, Giuseppe Novelli, Sonia Messina, Marika Pane, Eugenio Mercuri, Mireille Claustres, Sylvie Tuffery-Giraud, Annemieke Aartsma-Rus, Pietro Spitali, Peter A. C. T’Hoen, Hanns Lochmüller, Kristin Strandberg, Cristina Al-Khalili, Ekaterina Kotelnikova, Michael Lebowitz, Elena Schwartz, Francesco Muntoni, Chiara Scapoli, Alessandra Ferlini
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
BackgroundDuchenne muscular dystrophy (DMD) is a rare and severe X-linked muscular dystrophy in which the standard of care with variable outcome, also due to different drug response, is chronic off-label treatment with corticosteroids (CS). In order
Externí odkaz:
https://doaj.org/article/b81fc57f071f44379d499b268e34d2eb
Autor:
Maurizio Genuardi, Marzena Franiuk, Carla Bruzzone, Daniela Turchetti, Emanuela Lucci-Cordisco, Alessia Orfino, Elisabetta De Matteis, Lea Godino, Andrea Poscia, Francesca Romana Di Raimo, D Zace, Maria Luisa Di Pietro, Benedetta Bertonazzi, Liliana Varesco
Publikováno v:
Eur J Hum Genet
Genomic testing expansion is accompanied by an increasing need for genetic counselling and intrafamilial communication. Genetic counselling can play an important role in facilitating intrafamilial communication and relationships. We conducted a cross
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c06ec8f1a889427a4cbea96fa6d746dd
http://hdl.handle.net/11585/796129
http://hdl.handle.net/11585/796129
Autor:
Ginevra Zanni, Giovanni Neri, Tommaso Tartaglione, Filomena Pirozzi, Enrico Bertini, Andrea Brancaccio, Pietro Chiurazzi, Elisabetta Tabolacci, Francesca Romana Di Raimo, Pierre Billuart
Publikováno v:
Human mutation 32 (2011): E2294–E2307. doi:10.1002/humu.21567
info:cnr-pdr/source/autori:Pirozzi, Filomena; Di Raimo, Francesca Romana; Zanni, Ginevra; Bertini, Enrico; Billuart, Pierre; Tartaglione, Tommaso; Tabolacci, Elisabetta; Brancaccio, Andrea; Neri, Giovanni; Chiurazzi, Pietro/titolo:Insertion of 16 Amino Acids in the BAR Domain of the Oligophrenin 1 Protein Causes Mental Retardation and Cerebellar Hypoplasia in an Italian Family/doi:10.1002%2Fhumu.21567/rivista:Human mutation/anno:2011/pagina_da:E2294/pagina_a:E2307/intervallo_pagine:E2294–E2307/volume:32
info:cnr-pdr/source/autori:Pirozzi, Filomena; Di Raimo, Francesca Romana; Zanni, Ginevra; Bertini, Enrico; Billuart, Pierre; Tartaglione, Tommaso; Tabolacci, Elisabetta; Brancaccio, Andrea; Neri, Giovanni; Chiurazzi, Pietro/titolo:Insertion of 16 Amino Acids in the BAR Domain of the Oligophrenin 1 Protein Causes Mental Retardation and Cerebellar Hypoplasia in an Italian Family/doi:10.1002%2Fhumu.21567/rivista:Human mutation/anno:2011/pagina_da:E2294/pagina_a:E2307/intervallo_pagine:E2294–E2307/volume:32
We observed a three-generation family with two maternal cousins and an uncle affected by mental retardation (MR) with cerebellar hypoplasia. X-linked inheritance and the presence of cerebellar malformation suggested a mutation in the OPHN1 gene. In f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c260851395bd127d3cf55e1c1400e940
https://doi.org/10.1002/humu.21567
https://doi.org/10.1002/humu.21567
Autor:
Hui Jiang, Francesca Romana Di Raimo, Subreena Simrick, Giorgio Tasca, Jianguo Zhang, Fabiana Fattori, C. Scotton, Claudio Rapezzi, Thomas Brand, Bruno Dallapiccola, Rita Selvatici, Niels Decher, Alexander Froese, Viacheslav O. Nikolaev, Antonello Pietrangelo, Roland F.R. Schindler, Jun Wang, Fabrizio Drago, Enrico Bertini, Susanne Rinné, Marcella Neri, Alessandra Ferlini, Thorsten Schwerte, Kar Lai Poon, Thomas Müller, Christiane Grunert, Wenyan Li, Eloisa Arbustini, Mingyan Fang, Xun Xu, Chiara Passarelli, Beatriz Ortiz-Bonnin, Padmini Sarathchandra, Francesca Gualandi
Publikováno v:
The Journal of clinical investigation. 126(1)
The Popeye domain-containing 1 (POPDC1) gene encodes a plasma membrane-localized cAMP-binding protein that is abundantly expressed in striated muscle. In animal models, POPDC1 is an essential regulator of structure and function of cardiac and skeleta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68111b0f59b4956a7ae95533cfc4129d
https://pubmed.ncbi.nlm.nih.gov/26642364
https://pubmed.ncbi.nlm.nih.gov/26642364
Autor:
Francesca Romana Di Raimo, Julie A Hutchison, Chiara Setini, Mike Snape, Francesca Bevilacqua, Silvia Vernacotola, Giovanni Neri, Elisabetta Tabolacci, Maria-Giulia Torrioli, Diego Martinelli
Publikováno v:
American journal of medical genetics. Part A. (6)
Fragile X syndrome (FXS) is the leading cause of inherited mental retardation, due to expansion and methylation of the CGG sequence at the 5' UTR of the FMR1 gene. Around 90% of affected boys present with attention deficit hyperactivity disorder (ADH
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb515ab3087de0db5b5d62f5809b7a93
https://pubmed.ncbi.nlm.nih.gov/20734428
https://pubmed.ncbi.nlm.nih.gov/20734428
Publikováno v:
European Journal of Human Genetics. 18:135-136
In this issue of the Journal, Rio et al1 describe a new syndromic form of X-linked mental retardation (XLMR). The phenotype seems to be quite distinct, characterized by mild mental delay, peculiar facial traits, short stature and hypergonadotrophic h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfe9a079846bd1925fe2f946deb1c6c2
https://doi.org/10.1038/ejhg.2009.171
https://doi.org/10.1038/ejhg.2009.171