Episodic Ataxias: Faux or Real?

ανά Giunti, Paola, Mantuano, Elide, Frontali, Marina
Τόπος έκδοσης 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

ανά Giunti, Paola, Mantuano, Elide, Frontali, Marina, Veneziano, Liana
Τόπος έκδοσης Front Cell Neurosci (2015)

Fractal Analysis Reveals Reduced Complexity of Retinal Vessels in CADASIL

ανά Cavallari, Michele, Falco, Teresa, Frontali, Marina, Romano, Silvia, Bagnato, Francesca, Orzi, Francesco
Έκδοση 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

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

Analyzing the Effects of a G137V Mutation in the FXN Gene

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

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

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

Is the Oxidant/Antioxidant Status Altered in CADASIL Patients?

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

Neurofibromatosis type 2 appears to be a genetically homogeneous disease

ανά 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.
Έκδοση 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

ανά 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
Έκδοση 1991

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

ανά 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
Τόπος έκδοσης 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

ανά 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
Έκδοση 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...

ανά 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.
Έκδοση 1993

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

ανά 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
Τόπος έκδοσης BMC Med Genet (2015)

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

ανά 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
Τόπος έκδοσης Hum Genet (2019)

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

ανά 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.
Έκδοση 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...

ανά 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.
Έκδοση 1996

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

ανά 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.
Έκδοση 2012

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

ανά 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.
Έκδοση 2012

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

ανά 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.
Έκδοση 2012

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

ανά 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.
Έκδοση 2013