Works by Romito, Antonio

Results: 10

CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment.
Published in:
Human Genetics, 2023, v. 142, n. 3, p. 379, doi. 10.1007/s00439-022-02511-3
By:
- Smits, Daphne J.;
- Dekker, Jordy;
- Schot, Rachel;
- Tabarki, Brahim;
- Alhashem, Amal;
- Demmers, Jeroen A. A.;
- Dekkers, Dick H. W.;
- Romito, Antonio;
- van der Spek, Peter J.;
- van Ham, Tjakko J.;
- Bertoli-Avella, Aida M.;
- Mancini, Grazia M. S.
Publication type:
Article
Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2256
By:
- Alabdulrazzaq, Fatima;
- Alanzi, Talal;
- Al‐Balool, Haya H.;
- Gardham, Alice;
- Wakeling, Emma;
- Leitch, Harry G.;
- AlSayed, Moeenaldeen;
- Abdulrahim, Maha;
- Aladwani, Abdulaziz;
- Romito, Antonio;
- Kampe, Kapil;
- Ferdinandusse, Sacha;
- Aboelanine, Ashraf H.;
- Abdullah, Amira;
- Alwadani, Amal;
- Bastaki, Laila;
- Vaz, Frédéric M.;
- Bertoli‐Avella, Aida M.;
- Marafi, Dana
Publication type:
Article
Ftx is a non-coding RNA which affects Xist expression and chromatin structure within the X-inactivation center region.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 4, p. 705, doi. 10.1093/hmg/ddq516
By:
- Chureau, Corinne;
- Chantalat, Sophie;
- Romito, Antonio;
- Galvani, Angélique;
- Duret, Laurent;
- Avner, Philip;
- Rougeulle, Claire
Publication type:
Article
Pluripotent Stem Cells: Current Understanding and Future Directions.
Published in:
Thrombosis, 2015, p. 1, doi. 10.1155/2016/9451492
By:
- Romito, Antonio;
- Cobellis, Gilda
Publication type:
Article
Pluripotent Stem Cells: Current Understanding and Future Directions.
Published in:
Stem Cells International, 2015, p. 1, doi. 10.1155/2016/9451492
By:
- Romito, Antonio;
- Cobellis, Gilda
Publication type:
Article
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H‐TM protein.
Published in:
Clinical Genetics, 2022, v. 102, n. 5, p. 444, doi. 10.1111/cge.14203
By:
- Kraatari‐Tiri, Minna;
- Soikkonen, Leila;
- Myllykoski, Matti;
- Jamshidi, Yalda;
- Karimiani, Ehsan G.;
- Komulainen‐Ebrahim, Jonna;
- Kallankari, Hanna;
- Mignot, Cyril;
- Depienne, Christel;
- Keren, Boris;
- Nougues, Marie‐Christine;
- Alsahlawi, Zahra;
- Romito, Antonio;
- Martini, Javier;
- Toosi, Mehran B.;
- Carroll, Christopher J.;
- Tripolszki, Kornelia;
- Bauer, Peter;
- Uusimaa, Johanna;
- Bertoli‐Avella, Aida M.
Publication type:
Article
Tagging genes with cassette-exchange sites.
Published in:
Nucleic Acids Research, 2005, v. 33, n. 4, p. e44, doi. 10.1093/nar/gni045
By:
- Cobellis, Gilda;
- Nicolaus, Giancarlo;
- Iovino, Mariangela;
- Romito, Antonio;
- Marra, Emanuele;
- Barbarisi, Manlio;
- Sardiello, Marco;
- Di Giorgio, Francesco P.;
- Iovino, Nicola;
- Zollo, Massimo;
- Ballabio, Andrea;
- Cortese, Riccardo
Publication type:
Article
Focused ultrasound therapy in movement disorders: management roadmap toward optimal pathway organization.
Published in:
Frontiers in Neurology, 2024, p. 01, doi. 10.3389/fneur.2024.1356310
By:
- Rinaldo, Sara;
- Cilia, Roberto;
- Leta, Valentina;
- Gammone, Mariarosaria;
- Golfrè Andreasi, Nico;
- Colucci, Fabiana;
- Braccia, Arianna;
- Telese, Roberta;
- Fusar Poli, Marco;
- Levi, Vincenzo;
- Antonio Romito, Luigi Michele;
- Ghilemetti, Francesco;
- De Martin, Elena;
- Fumagalli, Maria Luisa;
- Epifani, Francesca;
- Prioni, Sara;
- Amami, Paolo;
- Piacentini, Sylvie;
- Elia, Antonio Emanuele;
- Devigili, Grazia
Publication type:
Article
Spectrum of FAR1 (Fatty Acyl‐CoA Reductase 1) Variants and Related Neurological Conditions.
Published in:
Movement Disorders, 2023, v. 38, n. 3, p. 502, doi. 10.1002/mds.29323
By:
- Westenberger, Ana;
- Ruiz‐Herrera, Adriana;
- Bozdoğan, Sevcan;
- Bisgin, Atil;
- Almuqbil, Mohammed;
- Alhashem, Amal;
- Alanzi, Talal;
- Romito, Antonio;
- Rolfs, Arndt;
- Dias, Patricia;
- Gouveia Silva, Raquel;
- Bertoli‐Avella, Aida M.;
- Bauer, Peter;
- Beetz, Christian
Publication type:
Article
Lack of Sik1 in Mouse Embryonic Stem Cells Impairs Cardiomyogenesis by Down-Regulating the Cyclin- Dependent Kinase Inhibitor p57<sup>kip2</sup>.
Published in:
PLoS ONE, 2010, v. 5, n. 2, p. 1, doi. 10.1371/journal.pone.0009029
By:
- Romito, Antonio;
- Lonardo, Enza;
- Roma, Guglielmo;
- Minchiotti, Gabriella;
- Ballabio, Andrea;
- Cobellis, Gilda
Publication type:
Article