Clinical and genetic studies of patients and families with ataxia

Sorina Gorcenco

Research output: Thesis › Doctoral Thesis (compilation)

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2024
Patients’ Perspective in Hereditary Ataxia
Gorcenco, S., Karremo, C. & Puschmann, A., 2024, In: Cerebellum. 23, 1, p. 82–91 10 p.
Research output: Contribution to journal › Article › peer-review

Open Access
2020
Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3
Prudencio, M., Garcia-Moreno, H., Jansen-West, K. R., Al-Shaikh, R. H., Gendron, T. F., Heckman, M. G., Spiegel, M. R., Carlomagno, Y., Daughrity, L. M., Song, Y., Dunmore, J. A., Byron, N., Oskarsson, B., Nicholson, K. A., Staff, N. P., Gorcenco, S., Puschmann, A., Lemos, J., Januário, C. & LeDoux, M. S. & 32 others, Friedman, J. H., Polke, J., Labrum, R., Shakkottai, V., McLoughlin, H. S., Paulson, H. L., Konno, T., Onodera, O., Ikeuchi, T., Tada, M., Kakita, A., Fryer, J. D., Karremo, C., Gomes, I., Caviness, J. N., Pittelkow, M. R., Aasly, J., Pfeiffer, R. F., Veerappan, V., Eggenberger, E. R., Freeman, W. D., Huang, J. F., Uitti, R. J., Wierenga, K. J., Marin Collazo, I. V., Tipton, P. W., van Gerpen, J. A., van Blitterswijk, M., Bu, G., Wszolek, Z. K., Petrucelli, L. & et al., 2020 Oct 21, In: Science Translational Medicine. 12, 566, eabb7086.
Research output: Contribution to journal › Article › peer-review
2017
Ataxia-pancytopenia syndrome with SAMD9L mutations
Gorcenco, S., Komulainen-Ebrahim, J., Nordborg, K., Suo-Palosaari, M., Andréasson, S., Krüger, J., Nilsson, C., Kjellström, U., Rahikkala, E., Turkiewicz, D., Karlberg, M., Nilsson, L., Cammenga, J., Tedgård, U., Davidsson, J., Uusimaa, J. & Puschmann, A., 2017 Oct, In: Neurology: Genetics. 3, 5, 7 p., e183.
Research output: Contribution to journal › Article › peer-review

Open Access

Clinical and genetic studies of patients and families with ataxia

Research output

Search results

Patients’ Perspective in Hereditary Ataxia

Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3

Ataxia-pancytopenia syndrome with SAMD9L mutations