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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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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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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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Propriospinal myoclonus after treatment with ciprofloxacin

Movement disorders, 2004-05, Vol.19 (5), p.595-597

2004

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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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Gut Microbiome Composition in Dystonia Patients

International journal of molecular sciences, 2023-01, Vol.24 (3), p.2383

2023

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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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Serotonergic system in vivo with [11C]DASB PET scans in GTP-cyclohydrolase deficient dopa-responsive dystonia patients

Scientific reports, 2022-04, Vol.12 (1), p.6292-6292, Article 6292

2022

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Cross-disease analysis of depression, ataxia and dystonia highlights a role for synaptic plasticity and the cerebellum in the pathophysiology of these comorbid diseases

Biochimica et biophysica acta. Molecular basis of disease, 2021-01, Vol.1867 (1), p.165976-165976, Article 165976

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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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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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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Challenges in Clinicogenetic Correlations: One Phenotype – Many Genes

Movement disorders clinical practice (Hoboken, N.J.), 2021-04, Vol.8 (3), p.311-321

2021

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Genetic advances spark a revolution in dystonia phenotyping

Nature reviews. Neurology, 2015-02, Vol.11 (2), p.78-79

2015

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Inborn Errors of Metabolism in Adults: Two Patients with Movement Disorders Caused by Glutaric Aciduria Type 1

Movement disorders clinical practice (Hoboken, N.J.), 2020-09, Vol.7 (S3), p.S85-S88

2020

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Myoclonus in childhood-onset neurogenetic disorders: The importance of early identification and treatment

European journal of paediatric neurology, 2015-11, Vol.19 (6), p.726-729

2015

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

Tremor and other hyperkinetic movements (New York, N.Y.), 2018-02, Vol.8, p.530-530

2018

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Patience is the key: Contraceptive induced chorea in a girl with Down Syndrome

European journal of paediatric neurology, 2016-07, Vol.20 (4), p.671-673

2016

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Unilateral pallidotomy versus bilateral subthalamic nucleus stimulation in PD: A comparison of neuropsychological effects

Journal of neurology, 2005-02, Vol.252 (2), p.176-182

2005

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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

Phenotypes and genetic architecture of focal primary torsion dystonia

Clinical and neurophysiological characterization of myoclonus in complex regional pain syndrome

Coherence analysis differentiates between cortical myoclonic tremor and essential tremor

Propriospinal myoclonus after treatment with ciprofloxacin

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

Gut Microbiome Composition in Dystonia Patients

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

Serotonergic system in vivo with [11C]DASB PET scans in GTP-cyclohydrolase deficient dopa-responsive dystonia patients

Cross-disease analysis of depression, ataxia and dystonia highlights a role for synaptic plasticity and the cerebellum in the pathophysiology of these comorbid diseases

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

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

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

Challenges in Clinicogenetic Correlations: One Phenotype – Many Genes

Genetic advances spark a revolution in dystonia phenotyping

Inborn Errors of Metabolism in Adults: Two Patients with Movement Disorders Caused by Glutaric Aciduria Type 1

Myoclonus in childhood-onset neurogenetic disorders: The importance of early identification and treatment

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

Patience is the key: Contraceptive induced chorea in a girl with Down Syndrome

Unilateral pallidotomy versus bilateral subthalamic nucleus stimulation in PD: A comparison of neuropsychological effects

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