Genetic Issues in the Diagnosis of Dystonias

by Petrucci, Simona, Valente, Enza Maria
Published 2013

“Fork and bracket” syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies

by Romani, Marta, Mehawej, Cybel, Mazza, Tommaso, Mégarbané, Andre, Valente, Enza Maria
Published 2016

Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain

by Zhang, Stella, Malik Sharif, Saghira, Chen, Ya-Chun, Valente, Enza-Maria, Ahmed, Mushtaq, Sheridan, Eamonn, Bennett, Christopher, Woods, Geoffrey
Published 2016

Cohort study of prevalence and phenomenology of tremor in dementia with Lewy bodies

by Onofrj, Marco, Varanese, Sara, Bonanni, Laura, Taylor, John-Paul, Antonini, Angelo, Valente, Enza Maria, Petrucci, Simona, Stocchi, Fabrizio, Thomas, Astrid, Perfetti, Bernardo
Published 2013

Brain Connectivity Changes in Autosomal Recessive Parkinson Disease: A Model for the Sporadic Form

by Makovac, Elena, Cercignani, Mara, Serra, Laura, Torso, Mario, Spanò, Barbara, Petrucci, Simona, Ricciardi, Lucia, Ginevrino, Monia, Caltagirone, Carlo, Bentivoglio, Anna Rita, Valente, Enza Maria, Bozzali, Marco
Published 2016

The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children

by Terracciano, Alessandra, Renaldo, Florence, Zanni, Ginevra, D’Amico, Adele, Pastore, Anna, Barresi, Sabina, Valente, Enza Maria, Piemonte, Fiorella, Tozzi, Giulia, Carrozzo, Rosalba, Valeriani, Massimiliano, Boldrini, Renata, Mercuri, Eugenio, Santorelli, Filippo Maria, Bertini, Enrico
Published 2012

Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients

by Briguglio, Marilena, Pinelli, Lorenzo, Giordano, Lucio, Ferraris, Alessandro, Germanò, Eva, Micheletti, Serena, Severino, Mariasavina, Bernardini, Laura, Loddo, Sara, Tortorella, Gaetano, Ormitti, Francesca, Gasparotti, Roberto, Rossi, Andrea, Valente, Enza Maria
Published 2011

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

by Romani, Marta, Micalizzi, Alessia, Kraoua, Ichraf, Dotti, Maria Teresa, Cavallin, Mara, Sztriha, László, Ruta, Rosario, Mancini, Francesca, Mazza, Tommaso, Castellana, Stefano, Hanene, Benrhouma, Carluccio, Maria Alessandra, Darra, Francesca, Máté, Adrienn, Zimmermann, Alíz, Gouider-Khouja, Neziha, Valente, Enza Maria
Published 2014

Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

by Poretti, Andrea, Vitiello, Giuseppina, Hennekam, Raoul CM, Arrigoni, Filippo, Bertini, Enrico, Borgatti, Renato, Brancati, Francesco, D'Arrigo, Stefano, Faravelli, Francesca, Giordano, Lucio, Huisman, Thierry AGM, Iannicelli, Miriam, Kluger, Gerhard, Kyllerman, Marten, Landgren, Magnus, Lees, Melissa M, Pinelli, Lorenzo, Romaniello, Romina, Scheer, Ianina, Schwarz, Christoph E, Spiegel, Ronen, Tibussek, Daniel, Valente, Enza Maria, Boltshauser, Eugen
Published 2012

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

by 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
Published 2013

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

by Roosing, Susanne, Romani, Marta, Isrie, Mala, Rosti, Rasim Ozgur, Micalizzi, Alessia, Musaev, Damir, Mazza, Tommaso, Al-gazali, Lihadh, Altunoglu, Umut, Boltshauser, Eugen, D'Arrigo, Stefano, De Keersmaecker, Bart, Kayserili, Hülya, Brandenberger, Sarah, Kraoua, Ichraf, Mark, Paul R, McKanna, Trudy, Van Keirsbilck, Joachim, Moerman, Philippe, Poretti, Andrea, Puri, Ratna, Van Esch, Hilde, Gleeson, Joseph G, Valente, Enza Maria
Published 2016

Syndromic parkinsonism and dementia associated with OPA 1 missense mutations

by Carelli, Valerio, Musumeci, Olimpia, Caporali, Leonardo, Zanna, Claudia, La Morgia, Chiara, Del Dotto, Valentina, Porcelli, Anna Maria, Rugolo, Michela, Valentino, Maria Lucia, Iommarini, Luisa, Maresca, Alessandra, Barboni, Piero, Carbonelli, Michele, Trombetta, Costantino, Valente, Enza Maria, Patergnani, Simone, Giorgi, Carlotta, Pinton, Paolo, Rizzo, Giovanni, Tonon, Caterina, Lodi, Raffaele, Avoni, Patrizia, Liguori, Rocco, Baruzzi, Agostino, Toscano, Antonio, Zeviani, Massimo
Published 2015

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

by Li, Chunmei, Jensen, Victor L., Park, Kwangjin, Kennedy, Julie, Garcia-Gonzalo, Francesc R., Romani, Marta, De Mori, Roberta, Bruel, Ange-Line, Gaillard, Dominique, Doray, Bérénice, Lopez, Estelle, Rivière, Jean-Baptiste, Faivre, Laurence, Thauvin-Robinet, Christel, Reiter, Jeremy F., Blacque, Oliver E., Valente, Enza Maria, Leroux, Michel R.
Published 2016

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

by Lee, Ji Eun, Silhavy, Jennifer L., Zaki, Maha S., Schroth, Jana, Bielas, Stephanie L., Marsh, Sarah E., Olvera, Jesus, Brancati, Francesco, Iannicelli, Miriam, Ikegami, Koji, Schlossman, Andrew M., Merriman, Barry, Attié-Bitach, Tania, Logan, Clare V., Glass, Ian A., Cluckey, Andrew, Louie, Carrie M., Lee, Jeong Ho, Raynes, Hilary R., Rapin, Isabelle, Castroviejo, Ignacio P., Setou, Mitsutoshi, Barbot, Clara, Boltshauser, Eugen, Nelson, Stanley F., Hildebrandt, Friedhelm, Johnson, Colin A., Doherty, Daniel A., Valente, Enza Maria, Gleeson, Joseph G.
Published 2012

Altered PLP1 splicing causes hypomyelination of early myelinating structures

by 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
Published 2015

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

by Romani, Marta, Mancini, Francesca, Micalizzi, Alessia, Poretti, Andrea, Miccinilli, Elide, Accorsi, Patrizia, Avola, Emanuela, Bertini, Enrico, Borgatti, Renato, Romaniello, Romina, Ceylaner, Serdar, Coppola, Giangennaro, D’Arrigo, Stefano, Giordano, Lucio, Janecke, Andreas R., Lituania, Mario, Ludwig, Kathrin, Martorell, Loreto, Mazza, Tommaso, Odent, Sylvie, Pinelli, Lorenzo, Poo, Pilar, Santucci, Margherita, Signorini, Sabrina, Simonati, Alessandro, Spiegel, Ronen, Stanzial, Franco, Steinlin, Maja, Tabarki, Brahim, Wolf, Nicole I., Zibordi, Federica, Boltshauser, Eugen, Valente, Enza Maria
Published 2014

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

by Roosing, Susanne, Hofree, Matan, Kim, Sehyun, Scott, Eric, Copeland, Brett, Romani, Marta, Silhavy, Jennifer L, Rosti, Rasim O, Schroth, Jana, Mazza, Tommaso, Miccinilli, Elide, Zaki, Maha S, Swoboda, Kathryn J, Milisa-Drautz, Joanne, Dobyns, William B, Mikati, Mohamed A, İncecik, Faruk, Azam, Matloob, Borgatti, Renato, Romaniello, Romina, Boustany, Rose-Mary, Clericuzio, Carol L, D'Arrigo, Stefano, Strømme, Petter, Boltshauser, Eugen, Stanzial, Franco, Mirabelli-Badenier, Marisol, Moroni, Isabella, Bertini, Enrico, Emma, Francesco, Steinlin, Maja, Hildebrandt, Friedhelm, Johnson, Colin A, Freilinger, Michael, Vaux, Keith K, Gabriel, Stacey B, Aza-Blanc, Pedro, Heynen-Genel, Susanne, Ideker, Trey, Dynlacht, Brian D, Lee, Ji Eun, Valente, Enza Maria, Kim, Joon, Gleeson, Joseph G
Published 2015

Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease

by Theuns, Jessie, Verstraeten, Aline, Sleegers, Kristel, Wauters, Eline, Gijselinck, Ilse, Smolders, Stefanie, Crosiers, David, Corsmit, Ellen, Elinck, Ellen, Sharma, Manu, Krüger, Rejko, Lesage, Suzanne, Brice, Alexis, Chung, Sun Ju, Kim, Mi-Jung, Kim, Young Jin, Ross, Owen A., Wszolek, Zbigniew K., Rogaeva, Ekaterina, Xi, Zhengrui, Lang, Anthony E., Klein, Christine, Weissbach, Anne, Mellick, George D., Silburn, Peter A., Hadjigeorgiou, Georgios M., Dardiotis, Efthimios, Hattori, Nobutaka, Ogaki, Kotaro, Tan, Eng-King, Zhao, Yi, Aasly, Jan, Valente, Enza Maria, Petrucci, Simona, Annesi, Grazia, Quattrone, Aldo, Ferrarese, Carlo, Brighina, Laura, Deutschländer, Angela, Puschmann, Andreas, Nilsson, Christer, Garraux, Gaëtan, LeDoux, Mark S., Pfeiffer, Ronald F., Boczarska-Jedynak, Magdalena, Opala, Grzegorz, Maraganore, Demetrius M., Engelborghs, Sebastiaan, De Deyn, Peter Paul, Cras, Patrick, Cruts, Marc, Van Broeckhoven, Christine
Published 2014