List of works - Marina A. J. Tijssen

A Gain-of-Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype

scientific article published on 16 November 2020

A novel diagnostic approach to patients with myoclonus.

scientific article

Abnormal low frequency drive in myoclonus-dystonia patients correlates with presence of dystonia

scientific article published on 01 July 2007

Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystonia.

scientific article

Acute posthypoxic myoclonus after cardiopulmonary resuscitation

scientific article

Adaptive DBS in a Parkinson's patient with chronically implanted DBS: A proof of principle

scientific article published on 7 June 2017

Axial jerks: a clinical spectrum ranging from propriospinal to psychogenic myoclonus

scientific article

Bilateral cerebellar activation in unilaterally challenged essential tremor

scientific article published on 28 December 2015

Botulinum neurotoxin (BoNT) treatment in functional movement disorders: long-term follow-up

scientific article published on 13 July 2020

Botulinum neurotoxin treatment in jerky and tremulous functional movement disorders: a double-blind, randomised placebo-controlled trial with an open-label extension

scientific article published on 20 June 2019

CACNA1B mutation is linked to unique myoclonus-dystonia syndrome

scientific article

Cervical dystonia: effectiveness of a standardized physical therapy program; study design and protocol of a single blind randomized controlled trial

scientific article

Clinical Practice: Evidence-Based Recommendations for the Treatment of Cervical Dystonia with Botulinum Toxin

scientific article published on 24 February 2017

Clinical and neurophysiological characterization of myoclonus in complex regional pain syndrome

scientific article published in March 2008

Clinical decision-making in functional and hyperkinetic movement disorders.

scientific article published on 2 December 2016

Clinician and patient perceptions of free will in movement disorders: mind the gap.

scientific article

Cognition and psychopathology in myoclonus-dystonia.

scientific article published on 23 May 2012

Coherence analysis differentiates between cortical myoclonic tremor and essential tremor

scientific article published in February 2006

DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation

scientific article

De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability

scientific article published on 10 March 2020

Decreased cortical inhibition and yet cerebellar pathology in 'familial cortical myoclonic tremor with epilepsy'.

scientific article published in December 2007

Distribution and Coexistence of Myoclonus and Dystonia as Clinical Predictors of SGCE Mutation Status: A Pilot Study.

scientific article

Dynamic head-neck stabilization in cervical dystonia.

scientific article published on 16 January 2017

Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm.

scientific article

Efficacy and safety of deep brain stimulation in patients with medication-induced tardive dyskinesia and/or dystonia: a systematic review

scientific article

Exaggerated startle reactions

scientific article published on 26 October 2011

Familial cortical myoclonic tremor with epilepsy and cerebellar changes: description of a new pathology case and review of the literature ⬇️

scientific article published on August 28, 2012

Familial cortical myoclonic tremor with epilepsy: a single syndromic classification for a group of pedigrees bearing common features

scientific article

Functional, or not functional; that is the question Can we predict the diagnosis functional movement disorder based on associated features?

scientific article published on 19 August 2020

Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia.

scientific article published on 30 June 2012

Increased whole-body auditory startle reflex and autonomic reactivity in children with anxiety disorders.

scientific article

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

scientific article published on 29 October 2019

Is there a role for combined EMG-fMRI in exploring the pathophysiology of essential tremor and improving functional neurosurgery?

scientific article

Jerky periods: myoclonus occurring solely during menses

scientific article published on 26 April 2013

Latah: An indonesian startle syndrome ⬇️

scientific article published on January 2, 2013

Local field potentials and oscillatory activity of the internal globus pallidus in myoclonus-dystonia

scientific article published in February 2007

Management of patients with myoclonus: available therapies and the need for an evidence-based approach ⬇️

scientific article published on October 1, 2010

Movement disorders and psychosis, a complex marriage

scientific article

Movement disorders in 2014. Genetic advances spark a revolution in dystonia phenotyping

scientific article published on 06 January 2015

Movement disorders on YouTube--caveat spectator

scientific article

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease

scientific article

Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism

scientific article

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

scientific article

Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia

scientific article published on 12 November 2009

Natural Course of Myoclonus-Dystonia in Adulthood: Stable Motor Signs But Increased Psychiatry

scientific article published on 25 March 2020

Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force

scientific article published on 04 October 2019

Outcome measurement in functional neurological disorder: a systematic review and recommendations

scientific article published on 28 February 2020

Paramedical treatment in primary dystonia: a systematic review

scientific article published in November 2009

Phenotypes and genetic architecture of focal primary torsion dystonia

article by Justus L Groen et al published 8 July 2012 in Journal of Neurology, Neurosurgery and Psychiatry

Propriospinal myoclonus after treatment with ciprofloxacin

scientific article

Propriospinal myoclonus: clinical reappraisal and review of literature

scientific article

Psychiatric disorders, myoclonus dystonia and SGCE: an international study

scientific article

Quality and reporting of guidelines on the diagnosis and management of dystonia

scientific article published on 20 October 2017

Quantification of the auditory startle reflex in children

scientific article published on 23 December 2008

Randomised controlled trial of escitalopram for cervical dystonia with dystonic jerks/tremor

scientific article

Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning

scientific article

Relationship between movement disorders and obsessive-compulsive disorder: beyond the obsessive-compulsive-tic phenotype. A systematic review

scientific article published on 23 March 2012

Reliability of phenotypic early-onset ataxia assessment: a pilot study

scientific article published on 21 May 2015

Reversal of Status Dystonicus after Relocation of Pallidal Electrodes in DYT6 Generalized Dystonia.

scientific article

Risk Factors for Tremor in a Population of Patients with Severe Mental Illness: An 18-year Prospective Study in a Geographically Representative Sample (The Curacao Extrapyramidal Syndromes Study XI).

scientific article

SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?

scientific article

Screening for dystonia genes DYT1, 11 and 16 in patients with writer's cramp

scientific article

Selective peripheral denervation: comparison with pallidal stimulation and literature review

scientific article

Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.

scientific article published on April 2012

Simultaneous EMG-functional MRI recordings can directly relate hyperkinetic movements to brain activity

scientific article published in December 2008

Startle syndromes

scientific article (publication date: June 2006)

Systematic clinical approach for diagnosing upper limb tremor

scientific article published on 26 May 2020

The Inter-rater Variability of Clinical Assessment in Post-anoxic Myoclonus.

scientific article published on 13 July 2017

The anatomical basis of dystonia: current view using neuroimaging

scientific article

The characteristics of pallidal low-frequency and beta bursts could help implementing adaptive brain stimulation in the parkinsonian and dystonic internal globus pallidus

scholarly article by Dan Piña-Fuentes et al published January 2019 in Neurobiology of Disease

The interrelation between clinical presentation and neurophysiology of posthypoxic myoclonus.

scientific article published on 11 March 2018

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

scientific article

The startle syndromes: Physiology and treatment ⬇️

scientific article published on December 1, 2012

Three Cases of Palatal Tics and Gilles De La Tourette Syndrome

scientific article published on 22 September 2014

Toward adaptive deep brain stimulation for dystonia

scientific article published on 01 August 2018

Unmet Needs in the Management of Cervical Dystonia

scientific article published on 28 September 2016

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

scientific article published on 29 October 2019

Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity

scientific article published on 06 February 2019

Vocal cord dysfunction in amyotrophic lateral sclerosis: four cases and a review of the literature.

scientific article

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

scientific article (publication date: April 2013)

fMRI analysis for motor paradigms using EMG-based designs: a validation study

scientific article published in November 2007

List of works by Marina A. J. Tijssen

A Gain-of-Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype

A novel diagnostic approach to patients with myoclonus.

Abnormal low frequency drive in myoclonus-dystonia patients correlates with presence of dystonia

Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystonia.

Acute posthypoxic myoclonus after cardiopulmonary resuscitation

Adaptive DBS in a Parkinson's patient with chronically implanted DBS: A proof of principle

Axial jerks: a clinical spectrum ranging from propriospinal to psychogenic myoclonus

Bilateral cerebellar activation in unilaterally challenged essential tremor

Botulinum neurotoxin (BoNT) treatment in functional movement disorders: long-term follow-up

Botulinum neurotoxin treatment in jerky and tremulous functional movement disorders: a double-blind, randomised placebo-controlled trial with an open-label extension

CACNA1B mutation is linked to unique myoclonus-dystonia syndrome

Cervical dystonia: effectiveness of a standardized physical therapy program; study design and protocol of a single blind randomized controlled trial

Clinical Practice: Evidence-Based Recommendations for the Treatment of Cervical Dystonia with Botulinum Toxin

Clinical and neurophysiological characterization of myoclonus in complex regional pain syndrome

Clinical decision-making in functional and hyperkinetic movement disorders.

Clinician and patient perceptions of free will in movement disorders: mind the gap.

Cognition and psychopathology in myoclonus-dystonia.

Coherence analysis differentiates between cortical myoclonic tremor and essential tremor

DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation

De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability

Decreased cortical inhibition and yet cerebellar pathology in 'familial cortical myoclonic tremor with epilepsy'.

Distribution and Coexistence of Myoclonus and Dystonia as Clinical Predictors of SGCE Mutation Status: A Pilot Study.

Dynamic head-neck stabilization in cervical dystonia.

Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm.

Efficacy and safety of deep brain stimulation in patients with medication-induced tardive dyskinesia and/or dystonia: a systematic review

Exaggerated startle reactions

Familial cortical myoclonic tremor with epilepsy and cerebellar changes: description of a new pathology case and review of the literature ⬇️

Familial cortical myoclonic tremor with epilepsy: a single syndromic classification for a group of pedigrees bearing common features

Functional, or not functional; that is the question Can we predict the diagnosis functional movement disorder based on associated features?

Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia.

Increased whole-body auditory startle reflex and autonomic reactivity in children with anxiety disorders.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Is there a role for combined EMG-fMRI in exploring the pathophysiology of essential tremor and improving functional neurosurgery?

Jerky periods: myoclonus occurring solely during menses

Latah: An indonesian startle syndrome ⬇️

Local field potentials and oscillatory activity of the internal globus pallidus in myoclonus-dystonia

Management of patients with myoclonus: available therapies and the need for an evidence-based approach ⬇️

Movement disorders and psychosis, a complex marriage

Movement disorders in 2014. Genetic advances spark a revolution in dystonia phenotyping

Movement disorders on YouTube--caveat spectator

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease

Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism

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

Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia

Natural Course of Myoclonus-Dystonia in Adulthood: Stable Motor Signs But Increased Psychiatry

Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force

Outcome measurement in functional neurological disorder: a systematic review and recommendations

Paramedical treatment in primary dystonia: a systematic review

Phenotypes and genetic architecture of focal primary torsion dystonia

Propriospinal myoclonus after treatment with ciprofloxacin

Propriospinal myoclonus: clinical reappraisal and review of literature

Psychiatric disorders, myoclonus dystonia and SGCE: an international study

Quality and reporting of guidelines on the diagnosis and management of dystonia

Quantification of the auditory startle reflex in children

Randomised controlled trial of escitalopram for cervical dystonia with dystonic jerks/tremor

Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning

Relationship between movement disorders and obsessive-compulsive disorder: beyond the obsessive-compulsive-tic phenotype. A systematic review

Reliability of phenotypic early-onset ataxia assessment: a pilot study

Reversal of Status Dystonicus after Relocation of Pallidal Electrodes in DYT6 Generalized Dystonia.

Risk Factors for Tremor in a Population of Patients with Severe Mental Illness: An 18-year Prospective Study in a Geographically Representative Sample (The Curacao Extrapyramidal Syndromes Study XI).

SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?

Screening for dystonia genes DYT1, 11 and 16 in patients with writer's cramp

Selective peripheral denervation: comparison with pallidal stimulation and literature review

Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.

Simultaneous EMG-functional MRI recordings can directly relate hyperkinetic movements to brain activity

Startle syndromes

Systematic clinical approach for diagnosing upper limb tremor

The Inter-rater Variability of Clinical Assessment in Post-anoxic Myoclonus.

The anatomical basis of dystonia: current view using neuroimaging

The characteristics of pallidal low-frequency and beta bursts could help implementing adaptive brain stimulation in the parkinsonian and dystonic internal globus pallidus

The interrelation between clinical presentation and neurophysiology of posthypoxic myoclonus.

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

The startle syndromes: Physiology and treatment ⬇️

Three Cases of Palatal Tics and Gilles De La Tourette Syndrome

Toward adaptive deep brain stimulation for dystonia

Unmet Needs in the Management of Cervical Dystonia

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity

Vocal cord dysfunction in amyotrophic lateral sclerosis: four cases and a review of the literature.