Episodic Ataxias: Faux or Real?

Autor Giunti, Paola, Mantuano, Elide, Frontali, Marina
Vydáno v 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

Autor Giunti, Paola, Mantuano, Elide, Frontali, Marina, Veneziano, Liana
Vydáno v Front Cell Neurosci (2015)

Fractal Analysis Reveals Reduced Complexity of Retinal Vessels in CADASIL

Autor Cavallari, Michele, Falco, Teresa, Frontali, Marina, Romano, Silvia, Bagnato, Francesca, Orzi, Francesco
Vydáno 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

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

Analyzing the Effects of a G137V Mutation in the FXN Gene

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

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

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

Is the Oxidant/Antioxidant Status Altered in CADASIL Patients?

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

Neurofibromatosis type 2 appears to be a genetically homogeneous disease

Autor 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.
Vydáno 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

Autor 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
Vydáno 1991

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

Autor 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
Vydáno v 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

Autor 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
Vydáno 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...

Autor 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.
Vydáno 1993

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

Autor 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
Vydáno v BMC Med Genet (2015)

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

Autor 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
Vydáno v Hum Genet (2019)

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

Autor 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.
Vydáno 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...

Autor 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.
Vydáno 1996

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

Autor 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.
Vydáno 2012

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

Autor 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.
Vydáno 2012

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

Autor 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.
Vydáno 2012

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

Autor 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.
Vydáno 2013