Search Results - "Valente, Enza M"

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

“…Mutations in PARK2, encoding Parkin, cause an autosomal recessive form of juvenile Parkinson Disease (JPD). The aim of the present study was to investigate the…”
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A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome by 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

“…Kohlschutter–Tonz syndrome (KTS) is a rare autosomal-recessive disorder of childhood onset, and it is characterized by global developmental delay, spasticity,…”
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Kohlschutter-Tonz Syndrome: Clinical and Genetic Insights Gained From 16 Cases Deriving From a Close-Knit Village in Northern Israel by 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

“…Abstract Background Kohlschutter–Tonz syndrome (KTS; MIM 22675) is a rare autosomal recessive disorder characterized by intellectual impairment, spasticity,…”
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X‐Linked Parkinsonism: Phenotypic and Genetic Heterogeneity by Di Lazzaro, Giulia, Magrinelli, Francesca, Estevez‐Fraga, Carlos, Valente, Enza M., Pisani, Antonio, Bhatia, Kailash P.

“…X‐linked parkinsonism encompasses rare heterogeneous disorders mainly inherited as a recessive trait, therefore being more prevalent in males. Recent…”
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Clinical variability at the mild end of BRAT1‐related spectrum: Evidence from two families with genotype–phenotype discordance by 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

“…Biallelic mutations in the BRAT1 gene, encoding BRCA1‐associated ATM activator 1, result in variable phenotypes, from rigidity and multifocal seizure syndrome,…”
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Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum by 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

“…Background Biallelic intronic AAGGG repeat expansions in the replication factor complex subunit 1 (RFC1) gene were identified as the leading cause of…”
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Preexisting Bipolar Disorder Influences the Subsequent Phenotype of Parkinson's Disease by 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

“…Background Patients with bipolar spectrum disorders (BSDs) exhibit an increased risk of Parkinson's disease (PD). Objective The aim is to investigate whether a…”
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APP‐Related Corticobasal Syndrome: Expanding the List of Corticobasal Degeneration Look Alikes by Abate, Filomena, Dati, Giovanna, Ginevrino, Monia, Valente, Enza M., Barone, Paolo, Picillo, Marina

“…View Supplementary Video 1…”
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Awareness of rare and genetic neurological diseases among italian neurologist. A national survey by Mancuso, Michelangelo, Filosto, Massimiliano, Lamperti, Costanza, Musumeci, Olimpia, Santorelli, Filippo M, Servidei, Serenella, Valente, Enza M, Zeviani, Massimo, Mancardi, Gianluigi, Tedeschi, Gioacchino, Federico, Antonio

“…Rare neurological diseases (RNDs) are a heterogeneous group of disorders mainly affecting the central and peripheral nervous systems, representing almost 50%…”
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Mutations in Extracellular Matrix Genes NID1 and LAMC1 Cause Autosomal Dominant Dandy-Walker Malformation and Occipital Cephaloceles by 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.

“…ABSTRACT We performed whole‐exome sequencing of a family with autosomal dominant Dandy–Walker malformation and occipital cephaloceles and detected a mutation…”
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The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm by 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

“…We studied the influence of the rs1182 polymorphism of the TOR1A gene on the risk of dystonia spread in two representative cohorts of patients presenting with…”
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Phenotypic characterization of DYT13 primary torsion dystonia by Bentivoglio, Anna Rita, Ialongo, Tamara, Contarino, M. Fiorella, Valente, Enza M., Albanese, Alberto

“…We describe the phenotype of DYT13 primary torsion dystonia (PTD) in a family first examined in 1994. A complete neurological evaluation was performed on all…”
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Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families by Bentivoglio, Anna R., Cortelli, Pietro, Valente, Enza M., Ialongo, Tàmara, Ferraris, Alessandro, Elia, Antonio, Montagna, Pasquale, Albanese, Alberto

“…The clinical features of nine patients (three women and six men) affected by PARK6‐linked parkinsonism, belonging to three unrelated Italian families, are…”
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Phenotypic variability of DYT1-PTD: Does the clinical spectrum include psychogenic dystonia? by Bentivoglio, Anna Rita, Loi, Mario, Valente, Enza M., Ialongo, Tamara, Tonali, Pietro, Albanese, Alberto

“…Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous group of movement disorders, usually inherited in an autosomal dominant manner…”
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The TOR1A Polymorphism rsll82 and the Risk of Spread in Primary Blepharospasm by 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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The Molar Tooth Sign Is Pathognomonic for Joubert Syndrome by Poretti, Andrea, MD, Boltshauser, Eugen, MD, Valente, Enza Maria, MD, PhD

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Phenotypic variability of DYTI-PTD: Does the clinical spectrum include psychogenic dystonia? by BENTIVOGLIO, Anna Rita, LOI, Mario, VALENTE, Enza M, IALONGO, Tamara, TONALI, Pietro, ALBANESE, Alberto

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

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Genetic testing for paediatric neurological disorders by Valente, Enza Maria, MD, Ferraris, Alessandro, MD, Dallapiccola, Bruno, MD

“…Summary Paediatric neurological disorders encompass a large group of clinically heterogeneous diseases, of which some are known to have a genetic cause. Over…”
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