P016. Congenital ataxia, hemiplegic migraine due to a novel mutation of CACNA1A: a case report

بواسطة Frusciante, Roberto, Capuano, Alessandro, Travaglini, Lorena, Zanni, Ginevra, Vigevano, Federico, Bertini, Enrico, Valeriani, Massimiliano
الحاوية / القاعدة J Headache Pain (2015)

CACNA1A-p.Thr501Met mutation associated with familial hemiplegic migraine: a family report

بواسطة Romozzi, Marina, Primiano, Guido, Rollo, Eleonora, Travaglini, Lorena, Calabresi, Paolo, Servidei, Serenella, Vollono, Catello
الحاوية / القاعدة J Headache Pain (2021)

Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description

بواسطة Battini, Roberta, Bertelloni, Silvano, Astrea, Guja, Casarano, Manuela, Travaglini, Lorena, Baroncelli, Giampiero, Pasquariello, Rosa, Bertini, Enrico, Cioni, Giovanni
الحاوية / القاعدة BMC Med Genet (2015)

Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study

بواسطة Graziola, Federica, Garone, Giacomo, Stregapede, Fabrizia, Bosco, Luca, Vigevano, Federico, Curatolo, Paolo, Bertini, Enrico, Travaglini, Lorena, Capuano, Alessandro
الحاوية / القاعدة Front Genet (2019)

Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias

بواسطة Garone, Giacomo, Capuano, Alessandro, Travaglini, Lorena, Graziola, Federica, Stregapede, Fabrizia, Zanni, Ginevra, Vigevano, Federico, Bertini, Enrico, Nicita, Francesco
الحاوية / القاعدة Int J Mol Sci (2020)

Frataxin Deficiency Leads to Reduced Expression and Impaired Translocation of NF-E2-Related Factor (Nrf2) in Cultured Motor Neurons

بواسطة D’Oria, Valentina, Petrini, Stefania, Travaglini, Lorena, Priori, Chiara, Piermarini, Emanuela, Petrillo, Sara, Carletti, Barbara, Bertini, Enrico, Piemonte, Fiorella
منشور في 2013

CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome

بواسطة Martinelli, Diego, Fiermonte, Giuseppe, Häberle, Johannes, Boenzi, Sara, Goffredo, Bianca Maria, Travaglini, Lorena, Agolini, Emanuele, Porcelli, Vito, Dionisi-Vici, Carlo
الحاوية / القاعدة Eur J Hum Genet (2020)

Frataxin Silencing Inactivates Mitochondrial Complex I in NSC34 Motoneuronal Cells and Alters Glutathione Homeostasis

بواسطة Carletti, Barbara, Piermarini, Emanuela, Tozzi, Giulia, Travaglini, Lorena, Torraco, Alessandra, Pastore, Anna, Sparaco, Marco, Petrillo, Sara, Carrozzo, Rosalba, Bertini, Enrico, Piemonte, Fiorella
منشور في 2014

Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience

بواسطة Riso, Vittorio, Rossi, Salvatore, Nicoletti, Tommaso F., Tessa, Alessandra, Travaglini, Lorena, Zanni, Ginevra, Aiello, Chiara, Perna, Alessia, Barghigiani, Melissa, Pomponi, Maria Grazia, Santorelli, Filippo M., Silvestri, Gabriella
الحاوية / القاعدة Brain Sci (2021)

RPGRIP1L mutations are mainly associated with the cerebellorenal phenotype of Joubert Syndrome Related Disorders

بواسطة Brancati, Francesco, Travaglini, Lorena, Zablocka, Dominika, Boltshauser, Eugen, Accorsi, Patrizia, Montagna, Giorgia, Silhavy, Jennifer L., Barrano, Giuseppe, Bertini, Enrico, Emma, Francesco, Rigoli, Luciana, Dallapiccola, Bruno, Gleeson, Joseph G, Valente, Enza Maria
منشور في 2008

Expanding CEP290 mutational spectrum in ciliopathies

بواسطة Travaglini, Lorena, Brancati, Francesco, Attie-Bitach, Tania, Audollent, Sophie, Bertini, Enrico, Kaplan, Josseline, Perrault, Isabelle, Iannicelli, Miriam, Mancuso, Brunella, Rigoli, Luciana, Rozet, Jean-Michel, Swistun, Dominika, Tolentino, Jerlyn, Dallapiccola, Bruno, Gleeson, Joseph G., Valente, Enza Maria
الحاوية / القاعدة Am J Med Genet A (2009)

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

بواسطة Ferraris, Alessandro, Bernardini, Laura, Sabolic Avramovska, Vesna, Zanni, Ginevra, Loddo, Sara, Sukarova-Angelovska, Elena, Parisi, Valentina, Capalbo, Anna, Tumini, Stefano, Travaglini, Lorena, Mancini, Francesca, Duma, Filip, Barresi, Sabina, Novelli, Antonio, Mercuri, Eugenio, Tarani, Luigi, Bertini, Enrico, Dallapiccola, Bruno, Valente, Enza Maria
منشور في 2013

MKS3/TMEM67 Mutations Are a Major Cause of COACH Syndrome, a Joubert Syndrome Related Disorder with Liver Involvement

بواسطة Brancati, Francesco, Iannicelli, Miriam, Travaglini, Lorena, Mazzotta, Annalisa, Bertini, Enrico, Boltshauser, Eugen, D’Arrigo, Stefano, Emma, Francesco, Fazzi, Elisa, Gallizzi, Romina, Gentile, Mattia, Loncarevic, Damir, Mejaski-Bosnjak, Vlatka, Pantaleoni, Chiara, Rigoli, Luciana, Salpietro, Carmelo D., Signorini, Sabrina, Stringini, Gilda Rita, Verloes, Alain, Zabloka, Dominika, Dallapiccola, Bruno, Gleeson, Joseph G., Valente, Enza Maria
منشور في 2009

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

بواسطة Travaglini, Lorena, Brancati, Francesco, Silhavy, Jennifer, Iannicelli, Miriam, Nickerson, Elizabeth, Elkhartoufi, Nadia, Scott, Eric, Spencer, Emily, Gabriel, Stacey, Thomas, Sophie, Ben-Zeev, Bruria, Bertini, Enrico, Boltshauser, Eugen, Chaouch, Malika, Roberta Cilio, Maria, de Jong, Mirjam M, Kayserili, Hulya, Ogur, Gonul, Poretti, Andrea, Signorini, Sabrina, Uziel, Graziella, Zaki, Maha S, Johnson, Colin, Attié-Bitach, Tania, Gleeson, Joseph G, Valente, Enza Maria
منشور في 2013

Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies

بواسطة Bielas, Stephanie L., Silhavy, Jennifer L., Brancati, Francesco, Kisseleva, Marina V., Al-Gazali, Lihadh, Sztriha, Laszlo, Bayoumi, Riad A., Zaki, Maha S., Abdel-Aleem, Alice, Rosti, Ozgur, Kayserili, Hulya, Swistun, Dominika, Scott, Lesley C., Bertini, Enrico, Boltshauser, Eugen, Fazzi, Elisa, Travaglini, Lorena, Field, Seth J., Gayral, Stephanie, Jacoby, Monique, Schurmans, Stephane, Dallapiccola, Bruno, Majerus, Philip W., Valente, Enza Maria, Gleeson, Joseph G.
منشور في 2009

Novel TMEM67 Mutations and Genotype-phenotype Correlates in Meckelin-related Ciliopathies

بواسطة Iannicelli, Miriam, Brancati, Francesco, Mougou-Zerelli, Soumaya, Mazzotta, Annalisa, Thomas, Sophie, Elkhartoufi, Nadia, Travaglini, Lorena, Gomes, Céline, Ardissino, Gian Luigi, Bertini, Enrico, Boltshauser, Eugen, Castorina, Pierangela, D'Arrigo, Stefano, Fischetto, Rita, Leroy, Brigitte, Loget, Philippe, Bonnière, Maryse, Starck, Lena, Tantau, Julia, Gentilin, Barbara, Majore, Silvia, Swistun, Dominika, Flori, Elizabeth, Lalatta, Faustina, Pantaleoni, Chiara, Johannes.Penzien, Grammatico, Paola, Dallapiccola, Bruno, Gleeson, Joseph G., Attie-Bitach, Tania, Valente, Enza Maria
منشور في 2010

Altered PLP1 splicing causes hypomyelination of early myelinating structures

بواسطة Kevelam, Sietske H, Taube, Jennifer R, van Spaendonk, Rosalina M L, Bertini, Enrico, Sperle, Karen, Tarnopolsky, Mark, Tonduti, Davide, Valente, Enza Maria, Travaglini, Lorena, Sistermans, Erik A, Bernard, Geneviève, Catsman-Berrevoets, Coriene E, van Karnebeek, Clara D M, Østergaard, John R, Friederich, Richard L, Fawzi Elsaid, Mahmoud, Schieving, Jolanda H, Tarailo-Graovac, Maja, Orcesi, Simona, Steenweg, Marjan E, van Berkel, Carola G M, Waisfisz, Quinten, Abbink, Truus E M, van der Knaap, Marjo S, Hobson, Grace M, Wolf, Nicole I
الحاوية / القاعدة Ann Clin Transl Neurol (2015)

CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders

بواسطة Brancati, Francesco , Barrano, Giuseppe , Silhavy, Jennifer L. , Marsh, Sarah E. , Travaglini, Lorena , Bielas, Stephanie L. , Amorini, Maria , Zablocka, Dominika , Kayserili, Hulya , Al-Gazali, Lihadh , Bertini, Enrico , Boltshauser, Eugen , D’Hooghe, Marc , Fazzi, Elisa , Fenerci, Elif Y. , Hennekam, Raoul C. M. , Kiss, Andrea , Lees, Melissa M. , Marco, Elysa , Phadke, Shubha R. , Rigoli, Luciana , Romano, Stephane , Salpietro, Carmelo D. , Sherr, Elliott H. , Signorini, Sabrina , Stromme, Petter , Stuart, Bernard , Sztriha, Laszlo , Viskochil, David H. , Yuksel, Adnan , Dallapiccola, Bruno , Valente, Enza Maria , Gleeson, Joseph G. 
منشور في 2007

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

بواسطة Valente, Enza Maria, Logan, Clare V., Mougou-Zerelli, Soumaya, Lee, Jeong Ho, Silhavy, Jennifer L., Brancati, Francesco, Iannicelli, Miriam, Travaglini, Lorena, Romani, Sveva, Illi, Barbara, Adams, Matthew, Szymanska, Katarzyna, Mazzotta, Annalisa, Lee, Ji Eun, Tolentino, Jerlyn C., Swistun, Dominika, Salpietro, Carmelo D., Fede, Carmelo, Gabriel, Stacey, Russ, Carsten, Cibulskis, Kristian, Sougnez, Carrie, Hildebrandt, Friedhelm, Otto, Edgar A., Held, Susanne, Diplas, Bill H., Davis, Erica, Mikula, Mario, Strom, Charles M., Ben-Ze’ev, Bruria, Lev, Dorit, Sagie, Tally Lerman, Michelson, Marina, Yaron, Yuval, Krause, Amanda, Boltshauser, Eugen, Elkhartoufi, Nadia, Roume, Joelle, Shalev, Stavit, Munnich, Arnold, Saunier, Sophie, Inglehearn, Chris, Saad, Ali, Alkindy, Adila, Thomas, Sophie, Vekemans, Michel, Dallapiccola, Bruno, Katsanis, Nicholas, Johnson, Colin A., Attié-Bitach, Tania, Gleeson, Joseph G.
منشور في 2010

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

بواسطة Neri, Marcella, Rossi, Rachele, Trabanelli, Cecilia, Mauro, Antonio, Selvatici, Rita, Falzarano, Maria Sofia, Spedicato, Noemi, Margutti, Alice, Rimessi, Paola, Fortunato, Fernanda, Fabris, Marina, Gualandi, Francesca, Comi, Giacomo, Tedeschi, Silvana, Seia, Manuela, Fiorillo, Chiara, Traverso, Monica, Bruno, Claudio, Giardina, Emiliano, Piemontese, Maria Rosaria, Merla, Giuseppe, Cau, Milena, Marica, Monica, Scuderi, Carmela, Borgione, Eugenia, Tessa, Alessandra, Astrea, Guia, Santorelli, Filippo Maria, Merlini, Luciano, Mora, Marina, Bernasconi, Pia, Gibertini, Sara, Sansone, Valeria, Mongini, Tiziana, Berardinelli, Angela, Pini, Antonella, Liguori, Rocco, Filosto, Massimiliano, Messina, Sonia, Vita, Gianluca, Toscano, Antonio, Vita, Giuseppe, Pane, Marika, Servidei, Serenella, Pegoraro, Elena, Bello, Luca, Travaglini, Lorena, Bertini, Enrico, D'Amico, Adele, Ergoli, Manuela, Politano, Luisa, Torella, Annalaura, Nigro, Vincenzo, Mercuri, Eugenio, Ferlini, Alessandra
الحاوية / القاعدة Front Genet (2020)