Publication

The genetics of spinocerebellar ataxia and dystonia

Nibbeling, E., 2017, [Groningen]: Rijksuniversiteit Groningen. 195 p.

Research output: ThesisThesis fully internal (DIV)Academic

APA

Nibbeling, E. (2017). The genetics of spinocerebellar ataxia and dystonia. [Groningen]: Rijksuniversiteit Groningen.

Author

Nibbeling, Esther. / The genetics of spinocerebellar ataxia and dystonia. [Groningen] : Rijksuniversiteit Groningen, 2017. 195 p.

Harvard

Nibbeling, E 2017, 'The genetics of spinocerebellar ataxia and dystonia', Doctor of Philosophy, University of Groningen, [Groningen].

Standard

The genetics of spinocerebellar ataxia and dystonia. / Nibbeling, Esther.

[Groningen] : Rijksuniversiteit Groningen, 2017. 195 p.

Research output: ThesisThesis fully internal (DIV)Academic

Vancouver

Nibbeling E. The genetics of spinocerebellar ataxia and dystonia. [Groningen]: Rijksuniversiteit Groningen, 2017. 195 p.


BibTeX

@phdthesis{36c939861ebd40f185e796afec749a89,
title = "The genetics of spinocerebellar ataxia and dystonia",
abstract = "Spinocerebellar ataxia and dystonia are movement disorders that affect the movement patterns and coordination of the patients. Although these are separate disorders, they show a large overlap in molecular etiology. Both disorders are genetically heterogeneous, meaning that they can be caused by mutations in a variety of genes. However, for many patients the genetic cause is not found in regular DNA diagnostics, because more genes are involved in the etiology of these disorders than are currently known. In this thesis I describe the process of novel disease gene identification for spinocerebellar ataxia and dystonia. To achieve this, we mainly used so-called ‘next generation sequencing’ techniques that allow for simultaneous testing of multiple genes. These methods render a large amount of data and finding the disease-causing variant is quite a challenge. Therefore, we have also used bioinformatic gene network analysis and functional tests in cell models to strengthen our data. In the end, we have identified seven novel genes that can cause spinocerebellar ataxia and a mutation in a gene that can cause writer’s cramp, directly improving genetic diagnostics for the patients. Additionally, the function of these genes expose that transcription regulation and synaptic transmission are important disease mechanisms underlying movement disorders such as ataxia and dystonia.",
author = "Esther Nibbeling",
year = "2017",
language = "English",
isbn = "978-94-6299-555-0",
publisher = "Rijksuniversiteit Groningen",
school = "University of Groningen",

}

RIS

TY - THES

T1 - The genetics of spinocerebellar ataxia and dystonia

AU - Nibbeling, Esther

PY - 2017

Y1 - 2017

N2 - Spinocerebellar ataxia and dystonia are movement disorders that affect the movement patterns and coordination of the patients. Although these are separate disorders, they show a large overlap in molecular etiology. Both disorders are genetically heterogeneous, meaning that they can be caused by mutations in a variety of genes. However, for many patients the genetic cause is not found in regular DNA diagnostics, because more genes are involved in the etiology of these disorders than are currently known. In this thesis I describe the process of novel disease gene identification for spinocerebellar ataxia and dystonia. To achieve this, we mainly used so-called ‘next generation sequencing’ techniques that allow for simultaneous testing of multiple genes. These methods render a large amount of data and finding the disease-causing variant is quite a challenge. Therefore, we have also used bioinformatic gene network analysis and functional tests in cell models to strengthen our data. In the end, we have identified seven novel genes that can cause spinocerebellar ataxia and a mutation in a gene that can cause writer’s cramp, directly improving genetic diagnostics for the patients. Additionally, the function of these genes expose that transcription regulation and synaptic transmission are important disease mechanisms underlying movement disorders such as ataxia and dystonia.

AB - Spinocerebellar ataxia and dystonia are movement disorders that affect the movement patterns and coordination of the patients. Although these are separate disorders, they show a large overlap in molecular etiology. Both disorders are genetically heterogeneous, meaning that they can be caused by mutations in a variety of genes. However, for many patients the genetic cause is not found in regular DNA diagnostics, because more genes are involved in the etiology of these disorders than are currently known. In this thesis I describe the process of novel disease gene identification for spinocerebellar ataxia and dystonia. To achieve this, we mainly used so-called ‘next generation sequencing’ techniques that allow for simultaneous testing of multiple genes. These methods render a large amount of data and finding the disease-causing variant is quite a challenge. Therefore, we have also used bioinformatic gene network analysis and functional tests in cell models to strengthen our data. In the end, we have identified seven novel genes that can cause spinocerebellar ataxia and a mutation in a gene that can cause writer’s cramp, directly improving genetic diagnostics for the patients. Additionally, the function of these genes expose that transcription regulation and synaptic transmission are important disease mechanisms underlying movement disorders such as ataxia and dystonia.

M3 - Thesis fully internal (DIV)

SN - 978-94-6299-555-0

PB - Rijksuniversiteit Groningen

CY - [Groningen]

ER -

ID: 40283645