Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD

by Morais, Sara, Bastos-Ferreira, Rita, Sequeiros, Jorge, Alonso, Isabel
Published 2016

Large-Scale Functional RNAi Screen in C. elegans Identifies TGF-β and Notch Signaling Pathways as Modifiers of CACNA1A

by Pereira, Maria da Conceição, Morais, Sara, Sequeiros, Jorge, Alonso, Isabel
Published 2016

Assessing Risk Factors for Migraine: Differences in Gender Transmission

by Lemos, Carolina, Alonso, Isabel, Barros, José, Sequeiros, Jorge, Pereira-Monteiro, José, Mendonça, Denisa, Sousa, Alda
Published 2012

Interaction between γ-Aminobutyric Acid A Receptor Genes: New Evidence in Migraine Susceptibility

by Quintas, Marlene, Neto, João Luís, Pereira-Monteiro, José, Barros, José, Sequeiros, Jorge, Sousa, Alda, Alonso, Isabel, Lemos, Carolina
Published 2013

The hidden story behind gender differences in familial amyloid polyneuropathy (FAP) ATTRV30M

by Santos, Diana, Coelho, Teresa, Alves-Ferreira, Miguel, Sequeiros, Jorge, Alonso, Isabel, Grazina, Manuela, Sousa, Alda, Lemos, Carolina
Published 2015

EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH)

by Porto, Graça, Brissot, Pierre, Swinkels, Dorine W, Zoller, Heinz, Kamarainen, Outi, Patton, Simon, Alonso, Isabel, Morris, Michael, Keeney, Steve
Published 2016

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes

by Seixas, Ana I, Vale, José, Jorge, Paula, Marques, Isabel, Santos, Rosário, Alonso, Isabel, Fortuna, Ana M, Pinto-Basto, Jorge, Coutinho, Paula, Margolis, Russell L, Sequeiros, Jorge, Silveira, Isabel
Published 2011

Monozygotic twin sisters discordant for familial hemiplegic migraine

by Barros, José, Barreto, Rui, Brandão, Ana Filipa, Domingos, Joana, Damásio, Joana, Ramos, Cristina, Lemos, Carolina, Sequeiros, Jorge, Alonso, Isabel, Pereira-Monteiro, José
Published 2013

Chromosome substitution strain assessment of a Huntington’s disease modifier locus

by Ramos, Eliana Marisa, Kovalenko, Marina, Guide, Jolene R., St. Claire, Jason, Gillis, Tammy, Mysore, Jayalakshmi S., Sequeiros, Jorge, Wheeler, Vanessa C., Alonso, Isabel, MacDonald, Marcy E.
Published 2015

Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease

by Ramos, Eliana Marisa, Gillis, Tammy, Mysore, Jayalakshmi S., Lee, Jong‐Min, Gögele, Martin, D'Elia, Yuri, Pichler, Irene, Sequeiros, Jorge, Pramstaller, Peter P., Gusella, James F., MacDonald, Marcy E., Alonso, Isabel
Published 2015

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

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