User profiles for Marina A.J. Tijssen

Marina AJ Tijssen de Koning

Prof & Head of Movement Disorders, department of Neurology, University Medical Center …
Verified email at umcg.nl
Cited by 15196

Startle syndromes

…, AMJM van den Maagdenberg, MAJ Tijssen - The Lancet …, 2006 - thelancet.com
Startle syndromes consist of three heterogeneous groups of disorders with abnormal responses
to startling events. The first is hyperekplexia, which can be split up into the "major" or "…

The anatomical basis of dystonia: current view using neuroimaging

S Lehéricy, MAJ Tijssen, M Vidailhet, R Kaji… - Movement …, 2013 - Wiley Online Library
This review will consider the knowledge that neuroimaging studies have provided to the
understanding of the anatomy of dystonia. Major advances have occurred in the use of …

Structural, functional and molecular imaging of the brain in primary focal dystonia—a review

E Zoons, J Booij, AJ Nederveen, JM Dijk, MAJ Tijssen - Neuroimage, 2011 - Elsevier
Primary focal dystonias form a group of neurological disorders characterized by involuntary,
sustained muscle contractions causing twisting movements and abnormal postures. The …

[PDF][PDF] Mutations in the Na+/K+-ATPase α3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism

…, L Liu, M Caton, G Linazasoro, M Borg, MAJ Tijssen… - Neuron, 2004 - cell.com
Rapid-onset dystonia-parkinsonism (RDP, DYT12) is a distinctive autosomal-dominant
movement disorder with variable expressivity and reduced penetrance characterized by abrupt …

The phenotypic spectrum of rapid-onset dystonia–parkinsonism (RDP) and mutations in the ATP1A3 gene

…, D Riley, R Saunders-Pullman, MAJ Tijssen… - Brain, 2007 - academic.oup.com
Rapid-onset dystonia–parkinsonism (RDP) (also known as DYT12) is characterized by the
abrupt onset of dystonia and parkinsonism and is caused by mutations in the ATP1A3 gene. …

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

…, SM Zuberi, JBP Stephenson, MJ Owen, MAJ Tijssen… - Nature …, 2006 - nature.com
Hyperekplexia is a human neurological disorder characterized by an excessive startle response
and is typically caused by missense and nonsense mutations in the gene encoding the …

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia‐telangiectasia: A genotype–phenotype study

…, CR Lincke, LAEM Laan, MAJ Tijssen… - Human …, 2012 - Wiley Online Library
Ataxia‐telangiectasia (A‐T) is an autosomal recessive neurodegenerative disorder with
multisystem involvement and cancer predisposition, caused by mutations in the A‐T mutated (…

Neuroimaging in functional neurological disorder: state of the field and research agenda

…, J Jungilligens, RAA Kanaan, MAJ Tijssen… - NeuroImage: Clinical, 2021 - Elsevier
Functional neurological (conversion) disorder (FND) was of great interest to early clinical
neuroscience leaders. During the 20th century, neurology and psychiatry grew apart - leaving …

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene

…, APM Langeveld, CM Sue, MAJ Tijssen… - Annals of …, 2013 - Wiley Online Library
Objective A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly
inherited form of spasmodic dysphonia combined with other focal or generalized dystonia …

Acute posthypoxic myoclonus after cardiopulmonary resuscitation

…, SC Tromp, EGJ Zandbergen, MAJ Tijssen… - BMC neurology, 2012 - Springer
Background Acute posthypoxic myoclonus (PHM) can occur in patients admitted after
cardiopulmonary resuscitation (CPR) and is considered to have a poor prognosis. The origin can …