• No results found

University of Groningen Childhood-onset movement disorders Lambrechts, Roald Alexander

N/A
N/A
Protected

Academic year: 2021

Share "University of Groningen Childhood-onset movement disorders Lambrechts, Roald Alexander"

Copied!
2
0
0

Bezig met laden.... (Bekijk nu de volledige tekst)

Hele tekst

(1)

University of Groningen

Childhood-onset movement disorders

Lambrechts, Roald Alexander

DOI:

10.33612/diss.101316004

IMPORTANT NOTE: You are advised to consult the publisher's version (publisher's PDF) if you wish to cite from it. Please check the document version below.

Document Version

Publisher's PDF, also known as Version of record

Publication date: 2019

Link to publication in University of Groningen/UMCG research database

Citation for published version (APA):

Lambrechts, R. A. (2019). Childhood-onset movement disorders: mechanistic and therapeutic insights from Drosophila melanogaster. Rijksuniversiteit Groningen. https://doi.org/10.33612/diss.101316004

Copyright

Other than for strictly personal use, it is not permitted to download or to forward/distribute the text or part of it without the consent of the author(s) and/or copyright holder(s), unless the work is under an open content license (like Creative Commons).

Take-down policy

If you believe that this document breaches copyright please contact us providing details, and we will remove access to the work immediately and investigate your claim.

Downloaded from the University of Groningen/UMCG research database (Pure): http://www.rug.nl/research/portal. For technical reasons the number of authors shown on this cover page is limited to 10 maximum.

(2)

STELLINGEN

behorende bij het proefschrift

Childhood-onset movement disorders:

mechanistic and therapeutic insights from Drosophila melanogaster

1

Depending on the question, Drosophila melanogaster may represent the golden mean between organisms too complex and organisms too simple to use as a model for neurological illness.

(This thesis)

2

Loss of active, 4-phosphopantetheinylated mitochondrial acyl carrier protein occurs upon disruption of Coenzyme A biosynthesis, which may underlie mitochondrial dysfunction in PKAN and CoPan.

(This thesis)

3

The detrimental effects of Coenzyme A deprivation in Drosophila are at least partially conferred by dysfunction of the pyruvate dehydrogenase complex, and amenable by stimulation of this complex.

(This thesis)

4

Loss of mitochondrial acyl carrier protein may, as an epiphenomenon, also underlie the iron accumulation observed in both PKAN and CoPan. (This thesis)

5

Loss of membrin, the Drosophila orthologue of GOSR2, in glial but not in neuronal cells leads to heat-induced seizure-like behaviour, suggesting that the primary function of GOSR2 disrupted in North Sea Progressive Myoclonus Epilepsy may be glial.

(This thesis)

6

Integration of fundamental and clinical knowledge leads to better science and better medicine, better scientists and better doctors.

7

Nature itself, unrestrained by medical ethics, has formulated an answer to many questions in genetics too cruel to venture the experiment.

8

The moment we can no longer afford to apply advances in medicine to our patient care, our society has the choice between a financial and a moral bankruptcy.

9

The diagnostic efficacy of the Single Item Narcissism Scale demonstrates the truth of Sir William Osler’s adage “Listen to your patient, he is telling you the diagnosis”. (Konrath et al., 2014; van der Linden & Rosenthal, 2016)

10

Either we all live in a decent world, or nobody does. (George Orwell)

Referenties

GERELATEERDE DOCUMENTEN

Om een goed fruitvliegenmodel te maken voor NS-PME, zijn we begonnen met inventariseren wat de klachten van patiënten verergert: dit zou dan ook kunnen worden gebruikt om

[29,30] In addition, it has been shown that children with cerebral palsy (CP), the most common cause of childhood dystonia, may suffer from a lower HR-QoL than children with

We think this high percentage of revisions may be due to the combined expertise of a pediatric neurologist, trained to distinguish normal developmental from abnormal movements, and

Isolated chorea is a relatively rare movement disorder in young patients, presenting with continuous, non-patterned, involuntary movements which are unpredictable in rate and

Conclusion: The p.Arg183Trp mutation in the beta-actin gene is associated with the clinical presentation of dystonia-deafness syndrome, even with only minimal or no developmental

Cerebral palsy (CP) is the commonest motor disorder in children.[1] In clinical practice, CP patients are clinically subdivided according to the predominant motor disorder,

We divided this study cohort based on movement disorder severity (mild to moderate versus marked to severe) and found a significant difference in the physical functioning domain

There is growing interest in non-motor features, such as depression, anxiety, pain and selective cognitive impairments (e.g. executive functioning), and their impact on the lives