Not logged inExpanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants
Bruselles, Alessandro; Mancini, Cecilia; Chiriatti, Luigi; Carvetta, Mattia; Baroni, Maria Chiara; Cappelletti, Camilla; Caraffi, Stefano Giuseppe; Celario, Massimiliano; Ciolfi, Andrea; Cordeddu, Viviana; De Falco, Alessandro; Ferilli, Marco; Garavelli, Livia; Leoni, Chiara; Meossi, Camilla; Niceta, Marcello; Onesimo, Roberta; Peluso, Francesca; Politano, Davide; Priolo, Manuela; Radio, Francesca Clementina; Santorelli, Filippo; Signorini, Sabrina; Sirchia, Fabio; Valente, Enza Maria; Zampino, Giuseppe; Tartaglia, Marco .png)
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SaveEtiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivityKalm, Tassja; Schob, Claudia; Voeller, Hanna; Gardeitchik, Thatjana; Gilissen, Christian; Pfundt, Rolph; Kloeckner, Chiara; Platzer, Konrad; Klabunde-Cherwon, Annick; Ries, Markus; Syrbe, Steffen; Beccaria, Francesca; Madia, Francesca; Scala, Marcello; Zara, Federico; Hofstede, Floris; Simon, Marleen E. H.; van Jaarsveld, Richard H.; Oegema, Renske; van Gassen, Koen L. I.; Holwerda, Sjoerd J. B.; Barakat, Tahsin Stefan; Bouman, Arjan; Slegtenhorst, Marjon van; Alvarez, Sara; Fernandez-Jaen, Alberto; Porta, Javier; Accogli, Andrea; Mancardi, Margherita Maria; Striano, Pasquale; Iacomino, Michele; Chae, Jong-Hee; Jang, SeSong; Kim, Soo Y.; Chitayat, David; Mercimek-Andrews, Saadet; Depienne, Christel; Kampmeier, Antje; Kuechler, Alma; Surowy, Harald; Bertini, Enrico Silvio; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Tartaglia, Marco; Gauthier, Lucas; Genevieve, David; Tharreau, Mylene; Azoulay, Noy; Zaks-Hoffer, Gal; Gilad, Nesia K.; Orenstein, Naama; Bernard, Genevieve; Thiffault, Isabelle; Denecke, Jonas; Herget, Theresia; Kortum, Fanny; Kubisch, Christian; Bahring, Robert; Kindler, Stefan Share Save Biallelic Variants of MRPS36 Cause a New Form of Leigh SyndromeGalosi, Serena; Mancini, Cecilia; Commone, Anna; Calligari, Paolo; Caputo, Viviana; Nardecchia, Francesca; Carducci, Claudia; van den Heuvel, Lambertus P.; Pizzi, Simone; Bruselles, Alessandro; Niceta, Marcello; Martinelli, Simone; Rodenburg, Richard J.; Tartaglia, Marco; Leuzzi, Vincenzo Share Save Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophyBrugger, Melanie; Lauri, Antonella; Zhen, Yan; Gramegna, Laura L.; Zott, Benedikt; Sekulic, Nikolina; Fasano, Giulia; Kopajtich, Robert; Cordeddu, Viviana; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Paradisi, Graziamaria; Zanni, Ginevra; Vasco, Gessica; Carrozzo, Rosalba; Palombo, Flavia; Tonon, Caterina; Lodi, Raffaele; Morgia, Chiara La; Arelin, Maria; Blechschmidt, Cristiane; Finck, Tom; Sorensen, Vigdis; Kreiser, Kornelia; Strobl-Wildemann, Gertrud; Daum, Hagit; Michaelson-Cohen, Rachel; Ziccardi, Lucia; Zampino, Giuseppe; Prokisch, Holger; Jamra, Rami Abou; Fiorini, Claudio; Arzberger, Thomas; Winkelmann, Juliane; Caporali, Leonardo; Carelli, Valerio; Stenmark, Harald; Tartaglia, Marco; Wagner, Matias Share Save Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspotFerrero, Enza; Di Gregorio, Eleonora; Ferrero, Marta; Ortolan, Erika; Moon, Young-Ah; Di Campli, Antonella; Pavinato, Lisa; Mancini, Cecilia; Tripathy, Debasmita; Manes, Marta; Hoxha, Eriola; Costanzi, Chiara; Pozzi, Elisa; Sebastiano, Matteo Rossi; Mitro, Nico; Tempia, Filippo; Caruso, Donatella; Borroni, Barbara; Basso, Manuela; Sallese, Michele; Brusco, Alfredo Share Save Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variantsPriolo, Manuela; Zara, Erika; Radio, Francesca Clementina; Ciolfi, Andrea; Spadaro, Francesca; Bellacchio, Emanuele; Mancini, Cecilia; Pantaleoni, Francesca; Cordeddu, Viviana; Chiriatti, Luigi; Niceta, Marcello; Africa, Emilio; Mammi, Corrado; Melis, Daniela; Coppola, Simona; Tartaglia, Marco Share Save Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafishFasano, Giulia; Muto, Valentina; Radio, Francesca Clementina; Venditti, Martina; Mosaddeghzadeh, Niloufar; Coppola, Simona; Paradisi, Graziamaria; Zara, Erika; Bazgir, Farhad; Ziegler, Alban; Chillemi, Giovanni; Bertuccini, Lucia; Tinari, Antonella; Vetro, Annalisa; Pantaleoni, Francesca; Pizzi, Simone; Conti, Libenzio Adrian; Petrini, Stefania; Bruselles, Alessandro; Prandi, Ingrid Guarnetti; Mancini, Cecilia; Chandramouli, Balasubramanian; Barth, Magalie; Bris, Celine; Milani, Donatella; Selicorni, Angelo; Macchiaiolo, Marina; Gonfiantini, Michaela V.; Bartuli, Andrea; Mariani, Riccardo; Curry, Cynthia J.; Guerrini, Renzo; Slavotinek, Anne; Iascone, Maria; Dallapiccola, Bruno; Ahmadian, Mohammad Reza; Lauri, Antonella; Tartaglia, Marco Share Save Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypesFlex, Elisabetta; Albadri, Shahad; Radio, Francesca Clementina; Cecchetti, Serena; Lauri, Antonella; Priolo, Manuela; Kissopoulos, Marta; Carpentieri, Giovanna; Fasano, Giulia; Venditti, Martina; Magliocca, Valentina; Bellacchio, Emanuele; Welch, Carrie L.; Colombo, Paolo C.; Kochav, Stephanie M.; Chang, Richard; Barrick, Rebekah; Trivisano, Marina; Micalizzi, Alessia; Borghi, Rossella; Messina, Elena; Mancini, Cecilia; Pizzi, Simone; De Santis, Flavia; Rosello, Marion; Specchio, Nicola; Compagnucci, Claudia; McWalter, Kirsty; Chung, Wendy K.; Del Bene, Filippo; Tartaglia, Marco Share Save Share Save Share Save Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the LiteratureMarzollo, Antonio; Conti, Francesca; Rossini, Linda; Rivalta, Beatrice; Leonardi, Lucia; Tretti, Caterina; Tosato, Francesca; Chiriaco, Maria; Ursu, Giorgiana Madalina; Natalucci, Cristina Tea; Martella, Maddalena; Borghesi, Alessandro; Mancini, Cecilia; Ciolfi, Andrea; di Matteo, Gigliola; Tartaglia, Marco; Cancrini, Caterina; Dotta, Andrea; Biffi, Alessandra; Finocchi, Andrea; Bresolin, Silvia Share Save Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing lossRichard, Elodie M.; Bakhtiari, Somayeh; Marsh, Ashley P. L.; Kaiyrzhanov, Rauan; Wagner, Matias; Shetty, Sheetal; Pagnozzi, Alex; Nordlie, Sandra M.; Guida, Brandon S.; Cornejo, Patricia; Magee, Helen; Liu, James; Norton, Bethany Y.; Webster, Richard, I; Worgan, Lisa; Hakonarson, Hakon; Li, Jiankang; Guo, Yiran; Jain, Mahim; Blesson, Alyssa; Rodan, Lance H.; Abbott, Mary-Alice; Comi, Anne; Cohen, Julie S.; Alhaddad, Bader; Meitinger, Thomas; Lenz, Dominic; Ziegler, Andreas; Kotzaeridou, Urania; Brunet, Theresa; Chassevent, Anna; Smith-Hicks, Constance; Ekstein, Joseph; Weiden, Tzvi; Hahn, Andreas; Zharkinbekova, Nazira; Turnpenny, Peter; Tucci, Arianna; Yelton, Melissa; Horvath, Rita; Gungor, Serdal; Hiz, Semra; Oktay, Yavuz; Lochmuller, Hanns; Zollino, Marcella; ManuelaMorleo; Marangi, Giuseppe; Nigro, Vincenzo; Torella, Annalaura; Pinelli, Michele; Amenta, Simona; Husain, Ralf A.; Grossmann, Benita; Rapp, Marion; Steen, Claudia; Marquardt, Iris; Grimmel, Mona; Grasshoff, Ute; Korenke, G. Christoph; Owczarek-Lipska, Marta; Neidhardt, John; Radio, Francesca Clementinac; Mancini, Cecilia; Sepulveda, Dianela Judith Claps; Mc Walter, Kirsty; Begtrup, Amber; Crunk, Amy; Sacoto, Maria J. Guillen; Person, Richard; Schnur, Rhonda E.; Mancardi, Maria Margherita; Kreuder, Florian; Striano, Pasquale; Zara, Federico; Chung, Wendy K.; Marks, Warren A.; van Eyk, Clare L.; Webber, Dani L.; Corbett, Mark A.; Harper, Kelly; Berry, Jesia G.; Mac Lennan, Alastair H.; Gecz, Jozef; Tartaglia, Marco; Salpietro, Vincenzo; Christodoulou, John; Kaslin, Jan; Padilla-Lopez, Sergio; Bilguvar, Kaya; Munchau, Alexander; Ahmed, Zubair M.; Hufnagel, Robert B.; Fahey, Michael C.; Maroofian, Reza; Houlden, Henry; Sticht, Heinrich; Mane, Shrikant M.; LRad, Aboulfaz; Vona, Barbara; Jin, Sheng Chih; Haack, Tobias B.; Makowski, Christine; Hirsch, Yoel; Riazuddin, Saima; Kruer, Michael C. Share Save Share Save In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia-Telangiectasia patientsPozzi, Elisa; Giorgio, Elisa; Mancini, Cecilia; Lo Buono, Nicola; Augeri, Stefania; Ferrero, Marta; Di Gregorio, Eleonora; Riberi, Evelise; Vinciguerra, Maria; Nanetti, Lorenzo; Bianchi, Federico Tommaso; Sassi, Maria Paola; Costanzo, Vincenzo; Mariotti, Caterina; Funaro, Ada; Cavalieri, Simona; Brusco, Alfredo Share Save Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicityMancini, Cecilia; Hoxha, Eriola; Iommarini, Luisa; Brussino, Alessandro; Richter, Uwe; Montarolo, Francesca; Cagnoli, Claudia; Parolisi, Roberta; Morosini, Diana Iulia Gondor; Nicolo, Valentina; Maltecca, Francesca; Muratori, Luisa; Ronchi, Giulia; Geuna, Stefano; Arnaboldi, Francesca; Donetti, Elena; Giorgio, Elisa; Cavalieri, Simona; Di Gregorio, Eleonora; Pozzi, Elisa; Ferrero, Marta; Riberi, Evelise; Casari, Giorgio; Altruda, Fiorella; Turco, Emilia; Gasparre, Giuseppe; Battersby, Brendan J.; Porcelli, Anna Maria; Ferrero, Enza; Brusco, Alfredo; Tempia, Filippo Share Save Mitochondrial stress response triggered by defects in protein synthesis quality controlRichter, Uwe; Ng, Kah Ying; Suomi, Fumi; Marttinen, Paula; Turunen, Taina; Jackson, Christopher; Suomalainen, Anu; Vihinen, Helena; Jokitalo, Eija; Nyman, Tuula A.; Isokallio, Marita A.; Stewart, James B.; Mancini, Cecilia; Brusco, Alfredo; Seneca, Sara; Lombes, Anne; Taylor, Robert W.; Battersby, Brendan J. Share Save ATXN2 intermediate repeat expansions influence the clinical phenotype in frontotemporal dementiaRubino, Elisa; Mancini, Cecilia; Boschi, Silvia; Ferrero, Patrizia; Ferrone, Marina; Bianca, Stefano; Zucca, Milena; Orsi, Laura; Pinessi, Lorenzo; Govone, Flora; Vacca, Alessandro; Gai, Annalisa; Giordana, Maria Teresa; Brusco, Alfredo; Rainero, Innocenzo Share Save Share Save Spinocerebellar Ataxia Tethering PCR A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary ElectrophoresisCagnoli, Claudia; Brussino, Alessandro; Mancini, Cecilia; Ferrone, Marina; Orsi, Laura; Salmin, Paola; Pappi, Patrizia; Giorgio, Elisa; Pozzi, Elisa; Cavalieri, Simona; Di Gregorio, Eleonora; Ferrero, Marta; Filla, Alessandro; De Michele, Giuseppe; Gellera, Cinzia; Mariotti, Caterina; Nethisinghe, Suran; Giunti, Paola; Stevanin, Giovanni; Brusco, Alfredo Share Save Human canonical CD157/Bst1 is an alternatively spliced isoform masking a previously unidentified primate-specific exon included in a novel transcriptFerrero, Enza; Lo Buono, Nicola; Morone, Simona; Parrotta, Rossella; Mancini, Cecilia; Brusco, Alfredo; Giacomino, Alice; Augeri, Stefania; Rosal-Vela, Antonio; Garcia-Rodriguez, Sonia; Zubiaur, Mercedes; Sancho, Jaime; Fiorio Pla, Alessandra; Funaro, Ada Share Save 
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