A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia
Seixas, Ana I., Loureiro, Joana R., Costa, Cristina, Ordóñez-Ugalde, Andrés, Marcelino, Hugo, Oliveira, Cláudia L., Loureiro, José L., Dhingra, Ashutosh, Brandão, Eva, Cruz, Vitor T., Timóteo, Angela, Quintáns, Beatriz, Rouleau, Guy A., Rizzu, Patrizia, Carracedo, Ángel, Bessa, José, Heutink, Peter, Sequeiros, Jorge, Sobrido, Maria J., Coutinho, Paula, Silveira, Isabel
Published in American journal of human genetics (06.07.2017)
Published in American journal of human genetics (06.07.2017)
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Journal Article
Loss of junctophilin-3 contributes to huntington disease-like 2 pathogenesis
Seixas, Ana I., Holmes, Susan E., Takeshima, Hiroshi, Pavlovich, Amira, Sachs, Nancy, Pruitt, Jennifer L., Silveira, Isabel, Ross, Christopher A., Margolis, Russell L., Rudnicki, Dobrila D.
Published in Annals of neurology (01.02.2012)
Published in Annals of neurology (01.02.2012)
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Journal Article
A RhoA-mediated biomechanical response in Schwann cells modulates peripheral nerve myelination
Seixas, Ana I., Morais, Miguel R.G., Brakebusch, Cord, Relvas, João B.
Published in Progress in neurobiology (01.08.2023)
Published in Progress in neurobiology (01.08.2023)
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Journal Article
Jmy regulates oligodendrocyte differentiation via modulation of actin cytoskeleton dynamics
Azevedo, Maria M., Domingues, Helena S., Cordelières, Fabrice P., Sampaio, Paula, Seixas, Ana I., Relvas, João B.
Published in Glia (01.09.2018)
Published in Glia (01.09.2018)
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Journal Article
FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes
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 in Behavioral and brain functions (03.06.2011)
Published in Behavioral and brain functions (03.06.2011)
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Journal Article
'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization
GARCIA-MURIAS, María, QUINTANS, Beatriz, DAPENA, Dolores, MOREIRA, Ramon, RODRIGUEZ-TRELLES, Francisco, SEQUEIROS, Jorge, CARRACEDO, Angel, SILVEIRA, Isabel, SOBRIDO, María J, ARIAS, Manuel, SEIXAS, Ana I, CACHEIRO, Pilar, TARRIO, Rosa, PARDO, Julio, MILLAN, María J, ARIAS-RIVAS, Susana, BLANCO-ARIAS, Patricia
Published in Brain (London, England : 1878) (01.05.2012)
Published in Brain (London, England : 1878) (01.05.2012)
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Journal Article
Neuropathology and Cellular Pathogenesis of Spinocerebellar Ataxia Type 12
O'Hearn, Elizabeth E., Hwang, Hyon S., Holmes, Susan E., Rudnicki, Dobrila D., Chung, Daniel W., Seixas, Ana I., Cohen, Rachael L., Ross, Christopher A., Trojanowski, John Q., Pletnikova, Olga, Troncoso, Juan C., Margolis, Russell L.
Published in Movement disorders (01.11.2015)
Published in Movement disorders (01.11.2015)
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Journal Article
A novel H101Q mutation causes PKCγ loss in spinocerebellar ataxia type 14
Alonso, Isabel, Costa, Cristina, Gomes, André, Ferro, Anabela, Seixas, Ana I., Silva, Sérgio, Cruz, Vitor Tedim, Coutinho, Paula, Sequeiros, Jorge, Silveira, Isabel
Published in Journal of human genetics (01.10.2005)
Published in Journal of human genetics (01.10.2005)
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Journal Article
FXTAS, SCA10, and SCA17 in American patients with movement disorders
Seixas, Ana I., Maurer, Martin H., Lin, Mark, Callahan, Colleen, Ahuja, Alka, Matsuura, Tohru, Ross, Christopher A., Hisama, Fuki M., Silveira, Isabel, Margolis, Russell L.
Published in American journal of medical genetics. Part A (01.07.2005)
Published in American journal of medical genetics. Part A (01.07.2005)
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Journal Article
Haplotype diversity and somatic instability in normal and expanded SCA8 alleles
Martins, Sandra, Seixas, Ana I., Magalhães, Paula, Coutinho, Paula, Sequeiros, Jorge, Silveira, Isabel
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.11.2005)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.11.2005)
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Journal Article
Neuropathology and C ellular P athogenesis of S pinocerebellar A taxia T ype 12
O'Hearn, Elizabeth E., Hwang, Hyon S., Holmes, Susan E., Rudnicki, Dobrila D., Chung, Daniel W., Seixas, Ana I., Cohen, Rachael L., Ross, Christopher A., Trojanowski, John Q., Pletnikova, Olga, Troncoso, Juan C., Margolis, Russell L.
Published in Movement disorders (01.11.2015)
Published in Movement disorders (01.11.2015)
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Journal Article
A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14
Alonso, Isabel, Costa, Cristina, Gomes, André, Ferro, Anabela, Seixas, Ana I, Silva, Sérgio, Cruz, Vitor Tedim, Coutinho, Paula, Sequeiros, Jorge, Silveira, Isabel
Published in Journal of human genetics (2005)
Published in Journal of human genetics (2005)
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Journal Article