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Neurophysiological Analysis of Cortical Myoclonic Tremor and Excessive Startle in ARHGEF9 Deficiency

Movement disorders clinical practice (Hoboken, N.J.), 2024-04, Vol.11 (4), p.434-437

2024

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North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia

Neuroscience, 2019-12, Vol.423, p.1-11

2019

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Early onset ataxia with comorbid myoclonus and epilepsy: A disease spectrum with shared molecular pathways and cortico-thalamo-cerebellar network involvement

European journal of paediatric neurology, 2023-07, Vol.45, p.47-54

2023

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Rehabilitation strategy using enhanced housing environment during neural regeneration

Journal of neuroscience methods, 2004-07, Vol.136 (2), p.179-185

2004

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

Journal of psychiatry & neuroscience, 2009-07, Vol.34 (4), p.314-322

2009

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Neuropsychological profile of psychogenic jerky movement disorders: importance of evaluating non-credible cognitive performance and psychopathology

Journal of neurology, neurosurgery and psychiatry, 2013-08, Vol.84 (8), p.862-867

2013

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Phenotypes and genetic architecture of focal primary torsion dystonia

Journal of neurology, neurosurgery and psychiatry, 2012-10, Vol.83 (10), p.1006-1011

2012

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Severity of dystonia is correlated with putaminal gray matter changes in Myoclonus-Dystonia

European journal of neurology, 2011-06, Vol.18 (6), p.906-912

2011

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Clinical and neurophysiological characterization of myoclonus in complex regional pain syndrome

Movement disorders, 2008-03, Vol.23 (4), p.581-587

2008

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Coherence analysis differentiates between cortical myoclonic tremor and essential tremor

Movement disorders, 2006-02, Vol.21 (2), p.215-222

2006

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Paroxysmal non-kinesigenic dyskinesia in antiphospholipid syndrome

Movement disorders, 2005-01, Vol.20 (1), p.111-113

2005

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Hyperekplexia in the first year of life

Movement disorders, 2000-11, Vol.15 (6), p.1293-1296

2000

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Hereditary myoclonus-dystonia associated with epilepsy

Neurology, 2003-06, Vol.60 (12), p.1988-1990

2003

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Functional magnetic resonance imaging evidence of incomplete maternal imprinting in myoclonus-dystonia

Archives of neurology (Chicago), 2011-06, Vol.68 (6), p.802

2011

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The natural history of progressive myoclonus ataxia

Neurobiology of disease, 2024-09, Vol.199, p.106555, Article 106555

2024

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

Movement disorders, 2019-11, Vol.34 (11), p.1602-1613

2019

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Dopaminergic and serotonergic alterations in plasma in three groups of dystonia patients

Parkinsonism & related disorders, 2021-10, Vol.91, p.48-54

2021

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A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism

Movement disorders, 2023-04, Vol.38 (4), p.646-653

2023

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Eye movement disorders and neurological symptoms in late‐onset inborn errors of metabolism

Movement disorders, 2018-12, Vol.33 (12), p.1844-1856

2018

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Non-motor symptoms in genetically defined dystonia: Homogenous groups require systematic assessment

Parkinsonism & related disorders, 2015-09, Vol.21 (9), p.1031-1040

2015

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

Journal of Neurology, Neurosurgery and Psychiatry, 2015-07, Vol.86 (7), p.774-781

2015

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Non-motor symptoms and quality of life in dopa-responsive dystonia patients

Parkinsonism & related disorders, 2017-12, Vol.45, p.57-62

2017

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Progressive myoclonus ataxia: Time for a new definition?

Movement disorders, 2018-08, Vol.33 (8), p.1281-1286

2018

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Using the shared genetics of dystonia and ataxia to unravel their pathogenesis

Neuroscience and biobehavioral reviews, 2017-04, Vol.75, p.22-39

2017

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How to detect late-onset inborn errors of metabolism in patients with movement disorders – A modern diagnostic approach

Parkinsonism & related disorders, 2021-04, Vol.85, p.124-132

2021

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Neurophysiological Analysis of Cortical Myoclonic Tremor and Excessive Startle in ARHGEF9 Deficiency

North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia

Early onset ataxia with comorbid myoclonus and epilepsy: A disease spectrum with shared molecular pathways and cortico-thalamo-cerebellar network involvement

Rehabilitation strategy using enhanced housing environment during neural regeneration

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

Neuropsychological profile of psychogenic jerky movement disorders: importance of evaluating non-credible cognitive performance and psychopathology

Phenotypes and genetic architecture of focal primary torsion dystonia

Severity of dystonia is correlated with putaminal gray matter changes in Myoclonus-Dystonia

Clinical and neurophysiological characterization of myoclonus in complex regional pain syndrome

Coherence analysis differentiates between cortical myoclonic tremor and essential tremor

Paroxysmal non-kinesigenic dyskinesia in antiphospholipid syndrome

Hyperekplexia in the first year of life

Hereditary myoclonus-dystonia associated with epilepsy

Functional magnetic resonance imaging evidence of incomplete maternal imprinting in myoclonus-dystonia

The natural history of progressive myoclonus ataxia

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

Dopaminergic and serotonergic alterations in plasma in three groups of dystonia patients

A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism

Eye movement disorders and neurological symptoms in late‐onset inborn errors of metabolism

Non-motor symptoms in genetically defined dystonia: Homogenous groups require systematic assessment

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

Non-motor symptoms and quality of life in dopa-responsive dystonia patients

Progressive myoclonus ataxia: Time for a new definition?

Using the shared genetics of dystonia and ataxia to unravel their pathogenesis

How to detect late-onset inborn errors of metabolism in patients with movement disorders – A modern diagnostic approach

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