Clinical and genetic studies of patients and families with ataxia

Sorina Gorcenco

Clinical and genetic studies of patients and families with ataxia

Research output: Thesis › Doctoral Thesis (compilation)

267 Downloads (Pure)

Original language	English
Qualification	Doctor
Awarding Institution	Department of Clinical Sciences, Lund
Supervisors/Advisors	Puschmann, Andreas, Supervisor Wictorin, Klas, Assistant supervisor
Award date	2023 Mar 24
Place of Publication	Lund
Publisher	Lund University, Faculty of Medicine
ISBN (Print)	978-91-8021-382-0
Publication status	Published - 2023

Bibliographical note

Defence details
Date: 2023-03-24
Time: 13:00
Place: Belfragesalen, BMC D15, Klinikgatan 32 i Lund. Join by Zoom: https://lu-se.zoom.us/j/61313694548?pwd=eFlDaFJncmRrUXZPc0ZZQzBVbDhJUT09
External reviewer(s)
Name: Synofzik, Matthis
Title: Professor
Affiliation: Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.

Subject classification (UKÄ)

Neurology

Free keywords

Hereditary ataxia
Next generation DNA sequencing
Diagnostic yield
Quality of life

Access to Document

e-nailing ex Sorina nr3Final published version, 2.28 MB

3 Article

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
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
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

Cite this

@phdthesis{a77df6b69631498f9c707eba51d3b098,

title = "Clinical and genetic studies of patients and families with ataxia",

keywords = "Hereditary ataxia, Next generation DNA sequencing, Diagnostic yield, Quality of life",

author = "Sorina Gorcenco",

note = "Defence details Date: 2023-03-24 Time: 13:00 Place: Belfragesalen, BMC D15, Klinikgatan 32 i Lund. Join by Zoom: https://lu-se.zoom.us/j/61313694548?pwd=eFlDaFJncmRrUXZPc0ZZQzBVbDhJUT09 External reviewer(s) Name: Synofzik, Matthis Title: Professor Affiliation: Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, T{\"u}bingen, Germany; German Center for Neurodegenerative Diseases (DZNE), T{\"u}bingen, Germany.",

year = "2023",

language = "English",

isbn = "978-91-8021-382-0",

series = "Lund University, Faculty of Medicine Doctoral Dissertation Series",

publisher = "Lund University, Faculty of Medicine",

number = "2023:43",

type = "Doctoral Thesis (compilation)",

school = "Department of Clinical Sciences, Lund",

}

TY - THES

T1 - Clinical and genetic studies of patients and families with ataxia

AU - Gorcenco, Sorina

N1 - Defence details Date: 2023-03-24 Time: 13:00 Place: Belfragesalen, BMC D15, Klinikgatan 32 i Lund. Join by Zoom: https://lu-se.zoom.us/j/61313694548?pwd=eFlDaFJncmRrUXZPc0ZZQzBVbDhJUT09 External reviewer(s) Name: Synofzik, Matthis Title: Professor Affiliation: Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.

PY - 2023

Y1 - 2023

KW - Hereditary ataxia

KW - Next generation DNA sequencing

KW - Diagnostic yield

KW - Quality of life

M3 - Doctoral Thesis (compilation)

SN - 978-91-8021-382-0

T3 - Lund University, Faculty of Medicine Doctoral Dissertation Series

PB - Lund University, Faculty of Medicine

CY - Lund

ER -

Clinical and genetic studies of patients and families with ataxia

Bibliographical note

Subject classification (UKÄ)

Free keywords

Access to Document

Research output

Patients’ Perspective in Hereditary Ataxia

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

Ataxia-pancytopenia syndrome with SAMD9L mutations

Cite this