Episodic Ataxias: Faux or Real?

by Giunti, Paola, Mantuano, Elide, Frontali, Marina
Published in Int J Mol Sci (2020)

Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation

by Giunti, Paola, Mantuano, Elide, Frontali, Marina, Veneziano, Liana
Published in Front Cell Neurosci (2015)

Fractal Analysis Reveals Reduced Complexity of Retinal Vessels in CADASIL

by Cavallari, Michele, Falco, Teresa, Frontali, Marina, Romano, Silvia, Bagnato, Francesca, Orzi, Francesco
Published 2011

A Novel De Novo Mutation of the TITF1/NKX2-1 Gene Causing Ataxia, Benign Hereditary Chorea, Hypothyroidism and a Pituitary Mass in a UK Family and Review of the Literature

by Veneziano, Liana, Parkinson, Michael H., Mantuano, Elide, Frontali, Marina, Bhatia, Kailash P., Giunti, Paola
Published 2014

Analyzing the Effects of a G137V Mutation in the FXN Gene

by Faggianelli, Nathalie, Puglisi, Rita, Veneziano, Liana, Romano, Silvia, Frontali, Marina, Vannocci, Tommaso, Fortuni, Silvia, Testi, Roberto, Pastore, Annalisa
Published in Front Mol Neurosci (2015)

Localization of a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, PARK6, on Human Chromosome 1p35-p36

by Valente, Enza Maria, Bentivoglio, Anna Rita, Dixon, Peter H., Ferraris, Alessandro, Ialongo, Tamara, Frontali, Marina, Albanese, Alberto, Wood, and Nicholas W.
Published 2001

Is the Oxidant/Antioxidant Status Altered in CADASIL Patients?

by Campolo, Jonica, De Maria, Renata, Mariotti, Caterina, Tomasello, Chiara, Parolini, Marina, Frontali, Marina, Inzitari, Domenico, Valenti, Raffaella, Federico, Antonio, Taroni, Franco, Parodi, Oberdan
Published 2013

Neurofibromatosis type 2 appears to be a genetically homogeneous disease

by Narod, Steven A., Parry, Dilys M., Parboosingh, Jillian, Lenoir, Gilbert M., Ruttledge, Martin, Fischer, Georges, Eldridge, Roswell, Martuza, Robert L., Frontali, Marina, Haines, Jonathan, Gusella, James F., Rouleau, Guy A.
Published 1992

The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds

by Zoghbi, Huda Y., Jodice, Carla, Sandkuijl, Lodewijk A., Kwiatkowski, Thomas J., McCall, Alanna E., Huntoon, Sally A., Lulli, Patrizia, Spadaro, Maria, Litt, Michael, Cann, Howard M., Frontali, Marina, Terrenato, Luciano
Published 1991

Does arterial hypertension influence the onset of Huntington's disease?

by Valcárcel-Ocete, Leire, Fullaondo, Asier, Alkorta-Aranburu, Gorka, García-Barcina, María, Roos, Raymund A. C., Hjermind, Lena E., Saft, Carsten, Frontali, Marina, Reilmann, Ralf, Rickards, Hugh, Zubiaga, Ana M., Aguirre, Ana
Published in PLoS One (2018)

Complete Loss of P/Q Calcium Channel Activity Caused by a CACNA1A Missense Mutation Carried by Patients with Episodic Ataxia Type 2

by Guida, Serena, Trettel, Flavia, Pagnutti, Stefano, Mantuano, Elide, Tottene, Angelita, Veneziano, Liana, Fellin, Tommaso, Spadaro, Maria, Stauderman, Kenneth A., Williams, Mark E., Volsen, Stephen, Ophoff, Roel A., Frants, Rune R., Jodice, Carla, Frontali, Marina, Pietrobon, Daniela
Published 2001

The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 l...

by Kwiatkowski, Thomas J., Orr, Harry T., Banfi, Sandro, McCall, Alanna E., Jodice, Carla, Persichetti, Francesca, Novelletto, Andrea, LeBorgne-DeMarquoy, Françoise, Duvick, Lisa A., Frontali, Marina, Subramony, S. H., Beaudet, Arthur L., Terrenato, Luciano, Zoghbi, Huda Y., Ranum, Laura P. W.
Published 1993

Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?

by D’Apice, Maria Rosaria, Novelli, Antonio, di Masi, Alessandra, Biancolella, Michela, Antoccia, Antonio, Gullotta, Francesca, Licata, Norma, Minella, Daniela, Testa, Barbara, Nardone, Anna Maria, Palmieri, Giampiero, Calabrese, Emma, Biancone, Livia, Tanzarella, Caterina, Frontali, Marina, Sangiuolo, Federica, Novelli, Giuseppe, Pallone, Francesco
Published in BMC Med Genet (2015)

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders

by Negri, Gloria, Magini, Pamela, Milani, Donatella, Crippa, Milena, Biamino, Elisa, Piccione, Maria, Sotgiu, Stefano, Perrìa, Chiara, Vitiello, Giuseppina, Frontali, Marina, Boni, Antonella, Fede, Elisabetta Di, Gandini, Maria Chiara, Colombo, Elisa Adele, Bamshad, Michael J., Nickerson, Deborah A., Smith, Joshua D., Loddo, Italia, Finelli, Palma, Seri, Marco, Pippucci, Tommaso, Larizza, Lidia, Gervasini, Cristina
Published in Hum Genet (2019)

Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16

by Djoussé, Luc, Knowlton, Beth, Hayden, Michael R., Almqvist, Elisabeth W., Brinkman, Ryan R., Ross, Christopher A., Margolis, Russel L., Rosenblatt, Adam, Durr, Alexandra, Dode, Catherine, Morrison, Patrick J., Novelletto, Andrea, Frontali, Marina, Trent, Ronald J. A., McCusker, Elizabeth, Gómez-Tortosa, Estrella, Mayo Cabrero, David, Jones, Randi, Zanko, Andrea, Nance, Martha, Abramson, Ruth K., Suchowersky, Oksana, Paulsen, Jane S., Harrison, Madaline B., Yang, Qiong, Cupples, L. Adrienne, Mysore, Jayalakshmi, Gusella, James F., MacDonald, Marcy E., Myers, Richard H.
Published 2004

Phenotypic Characterization of Individuals with 30–40 CAG Repeats in the Huntington Disease (HD) Gene Reveals HD Cases with 36 Repeats and Apparently Normal Elderly Individuals wit...

by Rubinsztein, David C., Leggo, Jayne, Coles, Rhian, Almqvist, Elisabeth, Biancalana, Valerie, Cassiman, Jean-Jacques, Chotai, Kokila, Connarty, Margaret, Craufurd, David, Curtis, Anne, Curtis, Diana, Davidson, Mark J., Differ, Anne-Marie, Dode, Catherine, Dodge, Alan, Frontali, Marina, Ranen, Neal G., Stine, O. Colin, Sherr, Meeia, Abbott, Margaret H., Franz, Mary L., Graham, Colin A., Harper, Peter S., Hedreen, John C., Jackson, Anthony, Kaplan, Jean-Claude, Losekoot, Monique, MacMillan, John C., Morrison, Patrick, Trottier, Yvon, Novelletto, Andrea, Simpson, Sheila A., Theilmann, Jane, Whittaker, Joanne L., Folstein, Susan E., Ross, Christopher A., Hayden, Michael R.
Published 1996

Common SNP-Based Haplotype Analysis of the 4p16.3 Huntington Disease Gene Region

by Lee, Jong-Min, Gillis, Tammy, Mysore, Jayalakshmi Srinidhi, Ramos, Eliana Marisa, Myers, Richard H., Hayden, Michael R., Morrison, Patrick J., Nance, Martha, Ross, Christopher A., Margolis, Russell L., Squitieri, Ferdinando, Griguoli, Annamaria, Di Donato, Stefano, Gomez-Tortosa, Estrella, Ayuso, Carmen, Suchowersky, Oksana, Trent, Ronald J., McCusker, Elizabeth, Novelletto, Andrea, Frontali, Marina, Jones, Randi, Ashizawa, Tetsuo, Frank, Samuel, Saint-Hilaire, Marie-Helene, Hersch, Steven M., Rosas, Herminia D., Lucente, Diane, Harrison, Madaline B., Zanko, Andrea, Abramson, Ruth K., Marder, Karen, Sequeiros, Jorge, MacDonald, Marcy E., Gusella, James F.
Published 2012

Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset

by Ramos, Eliana Marisa, Latourelle, Jeanne C., Lee, Ji-Hyun, Gillis, Tammy, Mysore, Jayalakshmi S., Squitieri, Ferdinando, Di Pardo, Alba, Di Donato, Stefano, Hayden, Michael R., Morrison, Patrick J., Nance, Martha, Ross, Christopher A., Margolis, Russell L., Gomez-Tortosa, Estrella, Ayuso, Carmen, Suchowersky, Oksana, Trent, Ronald J., McCusker, Elizabeth, Novelletto, Andrea, Frontali, Marina, Jones, Randi, Ashizawa, Tetsuo, Frank, Samuel, Saint-Hilaire, Marie-Helene, Hersch, Steven M., Rosas, Herminia D., Lucente, Diane, Harrison, Madaline B., Zanko, Andrea, Marder, Karen, Gusella, James F., Lee, Jong-Min, Alonso, Isabel, Sequeiros, Jorge, Myers, Richard H., MacDonald, Marcy E.
Published 2012

TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease

by Lee, Ji-Hyun, Lee, Jong-Min, Ramos, Eliana Marisa, Gillis, Tammy, Mysore, Jayalakshmi S., Kishikawa, Shotaro, Hadzi, Tiffany, Hendricks, Audrey E., Hayden, Michael R., Morrison, Patrick J., Nance, Martha, Ross, Christopher A., Margolis, Russell L., Squitieri, Ferdinando, Gellera, Cinzia, Gomez-Tortosa, Estrella, Ayuso, Carmen, Suchowersky, Oksana, Trent, Ronald J., McCusker, Elizabeth, Novelletto, Andrea, Frontali, Marina, Jones, Randi, Ashizawa, Tetsuo, Frank, Samuel, Saint-Hilaire, Marie-Helene, Hersch, Steven M., Rosas, Herminia D., Lucente, Diane, Harrison, Madaline B., Zanko, Andrea, Abramson, Ruth K., Marder, Karen, Sequeiros, Jorge, Landwehrmeyer, G. Bernhard, Network, Ira Shoulson, Myers, Richard H., MacDonald, Marcy E., Gusella, James F.
Published 2012

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onset

by Ramos, Eliana Marisa, Latourelle, Jeanne C., Gillis, Tammy, Mysore, Jayalakshmi S., Squitieri, Ferdinando, Di Pardo, Alba, Di Donato, Stefano, Gellera, Cinzia, Hayden, Michael R., Morrison, Patrick J., Nance, Martha, Ross, Christopher A., Margolis, Russell L., Gomez-Tortosa, Estrella, Ayuso, Carmen, Suchowersky, Oksana, Trent, Ronald J., McCusker, Elizabeth, Novelletto, Andrea, Frontali, Marina, Jones, Randi, Ashizawa, Tetsuo, Frank, Samuel, Saint-Hilaire, Marie-Helene, Hersch, Steven M., Rosas, Herminia D., Lucente, Diane, Harrison, Madaline B., Zanko, Andrea, Abramson, Ruth K., Marder, Karen, Gusella, James F., Lee, Jong-Min, Alonso, Isabel, Sequeiros, Jorge, Myers, Richard H., MacDonald, Marcy E.
Published 2013