Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts von Zanellati, Maria C, Monti, Valentina, Barzaghi, Chiara, Reale, Chiara, Nardocci, Nardo, Albanese, Alberto, Valente, Enza M, Ghezzi, Daniele, Garavaglia, Barbara

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A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome von 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

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Kohlschutter-Tonz Syndrome: Clinical and Genetic Insights Gained From 16 Cases Deriving From a Close-Knit Village in Northern Israel von 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

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X‐Linked Parkinsonism: Phenotypic and Genetic Heterogeneity von Di Lazzaro, Giulia, Magrinelli, Francesca, Estevez‐Fraga, Carlos, Valente, Enza M., Pisani, Antonio, Bhatia, Kailash P.

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Clinical variability at the mild end of BRAT1‐related spectrum: Evidence from two families with genotype–phenotype discordance von 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

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Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum von 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

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Preexisting Bipolar Disorder Influences the Subsequent Phenotype of Parkinson's Disease von 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

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APP‐Related Corticobasal Syndrome: Expanding the List of Corticobasal Degeneration Look Alikes von Abate, Filomena, Dati, Giovanna, Ginevrino, Monia, Valente, Enza M., Barone, Paolo, Picillo, Marina

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Awareness of rare and genetic neurological diseases among italian neurologist. A national survey von Mancuso, Michelangelo, Filosto, Massimiliano, Lamperti, Costanza, Musumeci, Olimpia, Santorelli, Filippo M, Servidei, Serenella, Valente, Enza M, Zeviani, Massimo, Mancardi, Gianluigi, Tedeschi, Gioacchino, Federico, Antonio

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Mutations in Extracellular Matrix Genes NID1 and LAMC1 Cause Autosomal Dominant Dandy-Walker Malformation and Occipital Cephaloceles von 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.

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The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm von 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

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A Novel Homozygous p.L539F Mutation Identified in PINK1 Gene in a Moroccan Patient with Parkinsonism von Bouhouche, Ahmed, Benomar, Ali, Bouslam, Naima, Skalli, Asmae, Tazi-Ahnini, Rachid, Regragui, Wafaa, Ben El Haj, Rafiqua, Yahyaoui, Mohamed

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Congenital Heart Defects Are Rarely Caused by Mutations in Cardiac and Smooth Muscle Actin Genes von Malashicheva, Anna, Zverev, Dmitry, Pervunina, Tatiana, Zlotina, Anna, Khodyuchenko, Tatiana, Kostareva, Anna

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Phenotypic characterization of DYT13 primary torsion dystonia von Bentivoglio, Anna Rita, Ialongo, Tamara, Contarino, M. Fiorella, Valente, Enza M., Albanese, Alberto

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Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families von Bentivoglio, Anna R., Cortelli, Pietro, Valente, Enza M., Ialongo, Tàmara, Ferraris, Alessandro, Elia, Antonio, Montagna, Pasquale, Albanese, Alberto

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Phenotypic variability of DYT1-PTD: Does the clinical spectrum include psychogenic dystonia? von Bentivoglio, Anna Rita, Loi, Mario, Valente, Enza M., Ialongo, Tamara, Tonali, Pietro, Albanese, Alberto

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The Molar Tooth Sign Is Pathognomonic for Joubert Syndrome von Poretti, Andrea, MD, Boltshauser, Eugen, MD, Valente, Enza Maria, MD, PhD

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Genetic modulation of PINK1 differentially affects mitophagy compared with autophagy disclosing common mechanisms of genetic and environmental parkinsonism von Lenzi, Paola, Falleni, Alessandra, Marongiu, Roberta, Valente, Enza M, Ricciardi, Maria P, Ruggieri, Stefano, Frati, Luigi, Paparelli, Antonio

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Morphological analysis of genetic modulation of PINK1 on mitochondrial alterations, autophagy and cell death von Settimini, Leonardo, Lenzi, Paola, Falleni, Alessandra, Valente, Enza M, nai, Francesco, Paparelli, Antonio

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The TOR1A Polymorphism rsll82 and the Risk of Spread in Primary Blepharospasm von 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

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