Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts
Zanellati, Maria C, Monti, Valentina, Barzaghi, Chiara, Reale, Chiara, Nardocci, Nardo, Albanese, Alberto, Valente, Enza M, Ghezzi, Daniele, Garavaglia, Barbara
Published in Frontiers in genetics (11.03.2015)
Published in Frontiers in genetics (11.03.2015)
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A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome
Mory, Adi, Dagan, Efrat, Illi, Barbara, Duquesnoy, Philippe, Mordechai, Shikma, Shahor, Ishai, Romani, Sveva, Hawash-Moustafa, Nivin, Mandel, Hanna, Valente, Enza M., Amselem, Serge, Gershoni-Baruch, Ruth
Published in American journal of human genetics (06.04.2012)
Published in American journal of human genetics (06.04.2012)
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Kohlschutter-Tonz Syndrome: Clinical and Genetic Insights Gained From 16 Cases Deriving From a Close-Knit Village in Northern Israel
Mory, Adi, PhD, Dagan, Efrat, PhD, Shahor, Ishai, MD, Mandel, Hanna, MD, Illi, Barbara, PhD, Zolotushko, Jenny, MSc, Kurolap, Alina, MSc, Chechik, Emilia, MD, Valente, Enza M., MD, PhD, Amselem, Serge, MD, PhD, Gershoni-Baruch, Ruth, MD
Published in Pediatric neurology (01.04.2014)
Published in Pediatric neurology (01.04.2014)
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X‐Linked Parkinsonism: Phenotypic and Genetic Heterogeneity
Di Lazzaro, Giulia, Magrinelli, Francesca, Estevez‐Fraga, Carlos, Valente, Enza M., Pisani, Antonio, Bhatia, Kailash P.
Published in Movement disorders (01.07.2021)
Published in Movement disorders (01.07.2021)
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Clinical variability at the mild end of BRAT1‐related spectrum: Evidence from two families with genotype–phenotype discordance
Nuovo, Sara, Baglioni, Valentina, De Mori, Roberta, Tardivo, Silvia, Caputi, Caterina, Ginevrino, Monia, Micalizzi, Alessia, Masuelli, Laura, Federici, Giulia, Casella, Antonella, Lorefice, Elisa, Anello, Danila, Tolve, Manuela, Farini, Donatella, Bertini, Enrico, Zanni, Ginevra, Travaglini, Lorena, Vasco, Gessica, Sette, Claudio, Carducci, Carla, Valente, Enza M., Leuzzi, Vincenzo
Published in Human mutation (01.01.2022)
Published in Human mutation (01.01.2022)
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Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum
Quartesan, Ilaria, Vegezzi, Elisa, Currò, Riccardo, Heslegrave, Amanda, Pisciotta, Chiara, Iruzubieta, Pablo, Salvalaggio, Alessandro, Fernández‐Eulate, Gorka, Dominik, Natalia, Rugginini, Bianca, Manini, Arianna, Abati, Elena, Facchini, Stefano, Manso, Katarina, Albajar, Ines, Laban, Rhiannon, Rossor, Alexander M., Pichiecchio, Anna, Cosentino, Giuseppe, Saveri, Paola, Salsano, Ettore, Andreetta, Francesca, Valente, Enza M., Zetterberg, Henrik, Giunti, Paola, Stojkovic, Tanya, Briani, Chiara, López de Munain, Adolfo, Pareyson, Davide, Reilly, Mary M., Houlden, Henry, Tassorelli, Cristina, Cortese, Andrea
Published in Movement disorders (01.01.2024)
Published in Movement disorders (01.01.2024)
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Preexisting Bipolar Disorder Influences the Subsequent Phenotype of Parkinson's Disease
Onofrj, Marco, Di Iorio, Angelo, Carrarini, Claudia, Russo, Mirella, Franciotti, Raffaella, Espay, Alberto J., Boylan, Laura S., Taylor, John‐Paul, Di Giannantonio, Massimo, Martinotti, Giovanni, Valente, Enza M., Thomas, Astrid, Bonanni, Laura, Delli Pizzi, Stefano, Dono, Fedele, Sensi, StefanoL
Published in Movement disorders (01.12.2021)
Published in Movement disorders (01.12.2021)
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APP‐Related Corticobasal Syndrome: Expanding the List of Corticobasal Degeneration Look Alikes
Abate, Filomena, Dati, Giovanna, Ginevrino, Monia, Valente, Enza M., Barone, Paolo, Picillo, Marina
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.10.2020)
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.10.2020)
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Awareness of rare and genetic neurological diseases among italian neurologist. A national survey
Mancuso, Michelangelo, Filosto, Massimiliano, Lamperti, Costanza, Musumeci, Olimpia, Santorelli, Filippo M, Servidei, Serenella, Valente, Enza M, Zeviani, Massimo, Mancardi, Gianluigi, Tedeschi, Gioacchino, Federico, Antonio
Published in Neurological sciences (01.06.2020)
Published in Neurological sciences (01.06.2020)
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Mutations in Extracellular Matrix Genes NID1 and LAMC1 Cause Autosomal Dominant Dandy-Walker Malformation and Occipital Cephaloceles
Darbro, Benjamin W., Mahajan, Vinit B., Gakhar, Lokesh, Skeie, Jessica M., Campbell, Elizabeth, Wu, Shu, Bing, Xinyu, Millen, Kathleen J., Dobyns, William B., Kessler, John A., Jalali, Ali, Cremer, James, Segre, Alberto, Manak, J. Robert, Aldinger, Kimerbly A., Suzuki, Satoshi, Natsume, Nagato, Ono, Maya, Hai, Huynh Dai, Viet, Le Thi, Loddo, Sara, Valente, Enza M., Bernardini, Laura, Ghonge, Nitin, Ferguson, Polly J., Bassuk, Alexander G.
Published in Human mutation (01.08.2013)
Published in Human mutation (01.08.2013)
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The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm
Defazio, Giovanni, Matarin, Mar, Peckham, Elizabeth L., Martino, Davide, Valente, Enza M., Singleton, Andrew, Crawley, Anthony, Aniello, Maria Stella, Brancati, Francesco, Abbruzzese, Giovanni, Girlanda, Paolo, Livrea, Paolo, Hallett, Mark, Berardelli, Alfredo
Published in Movement disorders (15.03.2009)
Published in Movement disorders (15.03.2009)
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Phenotypic characterization of DYT13 primary torsion dystonia
Bentivoglio, Anna Rita, Ialongo, Tamara, Contarino, M. Fiorella, Valente, Enza M., Albanese, Alberto
Published in Movement disorders (01.02.2004)
Published in Movement disorders (01.02.2004)
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Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families
Bentivoglio, Anna R., Cortelli, Pietro, Valente, Enza M., Ialongo, Tàmara, Ferraris, Alessandro, Elia, Antonio, Montagna, Pasquale, Albanese, Alberto
Published in Movement disorders (01.11.2001)
Published in Movement disorders (01.11.2001)
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Genetic modulation of PINK1 differentially affects mitophagy compared with autophagy disclosing common mechanisms of genetic and environmental parkinsonism
Lenzi, Paola, Falleni, Alessandra, Marongiu, Roberta, Valente, Enza M, Ricciardi, Maria P, Ruggieri, Stefano, Frati, Luigi, Paparelli, Antonio
Published in Italian journal of anatomy and embryology (01.05.2012)
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Published in Italian journal of anatomy and embryology (01.05.2012)
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Morphological analysis of genetic modulation of PINK1 on mitochondrial alterations, autophagy and cell death
Settimini, Leonardo, Lenzi, Paola, Falleni, Alessandra, Valente, Enza M, nai, Francesco, Paparelli, Antonio
Published in Italian journal of anatomy and embryology (01.01.2011)
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Published in Italian journal of anatomy and embryology (01.01.2011)
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The TOR1A Polymorphism rsll82 and the Risk of Spread in Primary Blepharospasm
DEFAZIO, Giovanni, MATARIN, Mar, GIRLANDA, Paolo, LIVREA, Paolo, HALLETT, Mark, BERARDELLI, Alfredo, PECKHAM, Elizabeth L, MARTINO, Davide, VALENTE, Enza M, SINGLETON, Andrew, CRAWLEY, Anthony, ANIELLO, Maria Stella, BRANCATI, Francesco, ABBRUZZESE, Giovanni
Published in Movement disorders (2009)
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Published in Movement disorders (2009)
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The Molar Tooth Sign Is Pathognomonic for Joubert Syndrome
Poretti, Andrea, MD, Boltshauser, Eugen, MD, Valente, Enza Maria, MD, PhD
Published in Pediatric neurology (01.06.2014)
Published in Pediatric neurology (01.06.2014)
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