Guidelines for genetic counselling in ATTR amyloidosis

by Sequeiros, Jorge
Published 2015

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

Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal

by Schuler-Faccini, Lavínia, Osorio, Claudio Maria, Romariz, Flavia, Paneque, Milena, Sequeiros, Jorge, Jardim, Laura Bannach
Published 2014

Unravelling the epidemiology of late-onset and asymptomatic carriers of FAP ATTR V30M in a Portuguese population

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

The C677T Polymorphism in MTHFR Is Not Associated with Migraine in Portugal

by Ferro, Anabela, Castro, Maria-José, Lemos, Carolina, Santos, Mónica, Sousa, Alda, Pereira-Monteiro, José, Sequeiros, Jorge, Maciel, Patrícia
Published 2008

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

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

‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization

by García-Murias, María, Quintáns, Beatriz, Arias, Manuel, Seixas, Ana I., Cacheiro, Pilar, Tarrío, Rosa, Pardo, Julio, Millán, María J., Arias-Rivas, Susana, Blanco-Arias, Patricia, Dapena, Dolores, Moreira, Ramón, Rodríguez-Trelles, Francisco, Sequeiros, Jorge, Carracedo, Ángel, Silveira, Isabel, Sobrido, María J.
Published 2012

Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy: European Society of Human Genetics and Europ...

by Harper, Joyce C, Geraedts, Joep, Borry, Pascal, Cornel, Martina C, Dondorp, Wybo, Gianaroli, Luca, Harton, Gary, Milachich, Tanya, Kääriäinen, Helena, Liebaers, Inge, Morris, Michael, Sequeiros, Jorge, Sermon, Karen, Shenfield, Françoise, Skirton, Heather, Soini, Sirpa, Spits, Claudia, Veiga, Anna, Vermeesch, Joris Robert, Viville, Stéphane, de Wert, Guido, Macek, Milan
Published 2013

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