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- 2024
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Mark
Conventional and novel anti-seizure medications reveal a particular role for GABAA in a North Sea progressive myoclonus Epilepsy Drosophila model
(
- Contribution to journal › Article
- 2022
-
Mark
Serotonergic system in vivo with [11C]DASB PET scans in GTP-cyclohydrolase deficient dopa-responsive dystonia patients
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- Contribution to journal › Article
- 2021
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Mark
Cross-disease analysis of depression, ataxia and dystonia highlights a role for synaptic plasticity and the cerebellum in the pathophysiology of these comorbid diseases
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- Contribution to journal › Article
-
Mark
Dopaminergic and serotonergic alterations in plasma in three groups of dystonia patients
(
- Contribution to journal › Article
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Mark
Diagnostic approach to paediatric movement disorders : a clinical practice guide
(
- Contribution to journal › Article
- 2020
-
Mark
Inborn Errors of Metabolism in Adults : Two Patients with Movement Disorders Caused by Glutaric Aciduria Type 1
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- Contribution to journal › Article
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Mark
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability
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- Contribution to journal › Article
- 2019
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Mark
Nomenclature of Genetically Determined Myoclonus Syndromes : Recommendations of the International Parkinson and Movement Disorder Society Task Force
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- Contribution to journal › Scientific review
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Mark
North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia
(
- Contribution to journal › Article
- 2018
-
Mark
Fever-Induced Paroxysmal Weakness and Encephalopathy (FIPWE)—Part of a Phenotypic Continuum in Patients With ATP1A3 Mutations?
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- Contribution to journal › Letter
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Mark
Eye movement disorders and neurological symptoms in late-onset inborn errors of metabolism
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- Contribution to journal › Scientific review
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Mark
Progressive myoclonus ataxia : Time for a new definition?
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- Contribution to journal › Article
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Mark
Expanding the ADCY5 phenotype toward spastic paraparesis : Amutation in the M2 domain
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- Contribution to journal › Article
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Mark
Reversal of status dystonicus after relocation of pallidal electrodes in DYT6 generalized dystonia
(
- Contribution to journal › Article
- 2017
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Mark
Using the shared genetics of dystonia and ataxia to unravel their pathogenesis
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- Contribution to journal › Scientific review
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Mark
Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation
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- Contribution to journal › Debate/Note/Editorial
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Mark
The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy : An observational prospective open-label study
(
- Contribution to journal › Article
- 2016
-
Mark
Patience is the key : Contraceptive induced chorea in a girl with Down Syndrome
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- Contribution to journal › Article
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Mark
Teaching Video Neuro Images : The "round the houses" sign as a clinical clue for Niemann-Pick disease type C
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- Contribution to journal › Debate/Note/Editorial
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Mark
Reliability of phenotypic early-onset ataxia assessment : A pilot study
(
- Contribution to journal › Article
- 2015
-
Mark
Movement disorders in 2014 : Genetic advances spark a revolution in dystonia phenotyping
(
- Contribution to journal › Scientific review
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Mark
Movement disorders in 2014 : Genetic advances spark a revolution in dystonia phenotyping
(
- Contribution to journal › Scientific review
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Mark
Cortical Myoclonus in a Young Boy with GOSR2 Mutation Mimics Chorea
(
- Contribution to journal › Article
-
Mark
Dystonia in children and adolescents : A systematic review and a new diagnostic algorithm
(
- Contribution to journal › Scientific review
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Mark
Myoclonus in childhood-onset neurogenetic disorders : The importance of early identification and treatment
(
- Contribution to journal › Article
- 2014
-
Mark
Rare inborn errors of metabolism with movement disorders : a case study to evaluate the impact upon quality of life and adaptive functioning
(
- Contribution to journal › Article
-
Mark
Assessment of speech in early-onset ataxia : A pilot study
(
- Contribution to journal › Article
- 2012
-
Mark
Neurodegeneration with brain iron accumulation on MRI : An adult case of α-mannosidosis
(
- Chapter in Book/Report/Conference proceeding › Book chapter