University of Groningen
Young-onset movement disorders van Egmond, Martje Elisabeth
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Publication date: 2018
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van Egmond, M. E. (2018). Young-onset movement disorders: Genetic advances require a new clinical approach. Rijksuniversiteit Groningen.
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Young-onset movement disorders
Genetic advances require a new clinical approach
Young-onset movement disorders: genetic advances require a new clinical approach.
(dit proefschrift)
A dedicated tertiary multidisciplinary approach to complex young-onset movement disorders facilitates phenotyping and improves recognition of rare disorders. (dit proefschrift)
Particularly in this next-generation sequencing era, optimal dystonia classification methodologies require reasonable consensus to be useful for clinical and research purposes. (dit proefschrift)
A strategy incorporating a diagnostic algorithm is recommended to ensure that patients with myoclonus and young-onset dystonia optimally benefit from the availability of next-generation sequencing techniques. (dit proefschrift)
Early recognition of myoclonus in childhood-onset neurogenetic disorders is important, because treatment can lead to significant functional improvement. (dit proefschrift)
Clinicians should consider mutation analysis of GOSR2 in young children with ataxia and areflexia, and in all patients with ataxia, areflexia and myoclonus. (dit proefschrift)
The art of percussion may have been replaced by ultrasound, but it will be long before any laboratory technique, including next-generation sequencing and neuroimaging, replaces a good movement disorders clinician. (Kapil Sethi and Antony Lang, Mov Dis Clin Pract 2017)
Progress in science depends on new techniques, new discoveries, and new ideas, probably in that order. (Sydney Brenner, Nobel Prize winner in 2002)
If the human brain were so simple that we could understand it, we would be so simple that we couldn’t. (Emerson Pugh, uitspraak stond ingelijst op het bureau van Michiel Staal)
Domheid kan verdwijnen door het stellen van vragen en de bereidheid tot twijfel aan antwoorden. (Baan Oterdoom)
Overbeweeglijkheid van de oren (‘wiggling ears’) kan wijzen op chorea maar is lang niet altijd pathologisch. (Movement Disorder Congress, Stockholm, 2015)
Liefde kost niets om te krijgen, maar is onbetaalbaar als je het hebt. (Kees van Kooten)
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Martje van Egmond, mei 2018
