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- 2024
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Mark
Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4 : A poly-glycine disease
(
- Contribution to journal › Article
-
Mark
Clinical Characteristics Suggestive of a Genetic Cause in Cerebral Palsy : A Systematic Review
(
- Contribution to journal › Scientific review
-
Mark
Physician's conceptions of the decision-making process when managing febrile infants ≤ 60 days old : a phenomenographic qualitative study
(
- Contribution to journal › Article
- 2023
-
Mark
Psychiatric manifestations of inborn errors of metabolism : A systematic review
(
- Contribution to journal › Scientific review
-
Mark
Parkinsonism in Genetic Neurodevelopmental Disorders : A Systematic Review
(
- Contribution to journal › Scientific review
-
Mark
Gut Microbiome Composition in Dystonia Patients
(
- Contribution to journal › Article
-
Mark
A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism
(
- Contribution to journal › Article
-
Mark
Early onset ataxia with comorbid myoclonus and epilepsy : A disease spectrum with shared molecular pathways and cortico-thalamo-cerebellar network involvement
(
- Contribution to journal › Article
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Mark
Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy
(
- Contribution to journal › Article
- 2022
-
Mark
The Mitochondrial Epigenome : An Unexplored Avenue to Explain Unexplained Myopathies?
(
- Contribution to journal › Article
-
Mark
Methylation of the serotonin reuptake transporter gene and non-motor symptoms in dystonia patients
(
- Contribution to journal › Article
-
Mark
Developmental neurobiology of cerebellar and Basal Ganglia connections
(
- Contribution to journal › Article
-
Mark
Serotonergic system in vivo with [11C]DASB PET scans in GTP-cyclohydrolase deficient dopa-responsive dystonia patients
(
- Contribution to journal › Article
-
Mark
Eye movement disorders in inborn errors of metabolism : A quantitative analysis of 37 patients
(
- Contribution to journal › Article
-
Mark
Amino Acid Synthesis Deficiencies
2022) p.453-467(
- Chapter in Book/Report/Conference proceeding › Book chapter
- 2021
-
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
(
- Contribution to journal › Article
-
Mark
Dopaminergic and serotonergic alterations in plasma in three groups of dystonia patients
(
- Contribution to journal › Article
-
Mark
How to detect late-onset inborn errors of metabolism in patients with movement disorders - A modern diagnostic approach
(
- Contribution to journal › Scientific review
-
Mark
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
(
- Contribution to journal › Article
-
Mark
Challenges in Clinicogenetic Correlations : One Phenotype – Many Genes
(
- Contribution to journal › Scientific review
-
Mark
Treatment of ARS deficiencies with specific amino acids
(
- Contribution to journal › Article
-
Mark
The neurological and neuropsychiatric spectrum of adults with late-treated phenylketonuria
(
- Contribution to journal › Article
-
Mark
Development and Validation of Decision Rules Models to Stratify Coronary Artery Disease, Diabetes, and Hypertension Risk in Preventive Care : Cohort Study of Returning UK Biobank Participants
(
- Contribution to journal › Article
-
Mark
Case Report: "Niemann-Pick Disease Type C in a Catatonic Patient Treated With Electroconvulsive Therapy"
(
- Contribution to journal › Article
- 2020
-
Mark
The Wide Phenotypic Spectrum of L-2 Hydroxyglutaric Aciduria in Adults
(
- Contribution to journal › Letter
-
Mark
Inborn Errors of Metabolism in Adults : Two Patients with Movement Disorders Caused by Glutaric Aciduria Type 1
(
- Contribution to journal › Article
-
Mark
A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients
(
- Contribution to journal › Article
-
Mark
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability
(
- Contribution to journal › Article
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Mark
Early Onset Ataxia with Comorbid Dystonia : Clinical, Anatomical and Biological Pathway Analysis Expose Shared Pathophysiology
(
- Contribution to journal › Article
- 2019
-
Mark
North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia
(
- Contribution to journal › Article
-
Mark
Nomenclature of Genetically Determined Myoclonus Syndromes : Recommendations of the International Parkinson and Movement Disorder Society Task Force
(
- Contribution to journal › Scientific review
-
Mark
A clinical diagnostic algorithm for early onset cerebellar ataxia
(
- Contribution to journal › Article
-
Mark
Identification of human D lactate dehydrogenase deficiency
(
- Contribution to journal › Article
-
Mark
Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia
(
- Contribution to journal › Article
-
Mark
Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity
(
- Contribution to journal › Article
-
Mark
Recommendations for patient screening in ultra-rare inherited metabolic diseases : What have we learned from Niemann-Pick disease type C?
(
- Contribution to journal › Scientific review
- 2018
-
Mark
Eye movement disorders and neurological symptoms in late-onset inborn errors of metabolism
(
- Contribution to journal › Scientific review
-
Mark
Progressive myoclonus ataxia : Time for a new definition?
(
- Contribution to journal › Article
-
Mark
Reversal of status dystonicus after relocation of pallidal electrodes in DYT6 generalized dystonia
(
- Contribution to journal › Article
-
Mark
Expanding the ADCY5 phenotype toward spastic paraparesis : Amutation in the M2 domain
(
- Contribution to journal › Article
-
Mark
A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers : from bedside to home site monitoring
(
- Contribution to journal › Article
-
Mark
Fever-Induced Paroxysmal Weakness and Encephalopathy (FIPWE)—Part of a Phenotypic Continuum in Patients With ATP1A3 Mutations?
(
- Contribution to journal › Letter
-
Mark
Treatable inherited rare movement disorders
(
- Contribution to journal › Scientific review
-
Mark
Ketogenic Diet in Refractory Childhood Epilepsy : Starting With a Liquid Formulation in an Outpatient Setting
(
- Contribution to journal › Article
-
Mark
Crossing barriers : a multidisciplinary approach to children and adults with young-onset movement disorders
(
- Contribution to journal › Article
- 2017
-
Mark
Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation
(
- Contribution to journal › Debate/Note/Editorial
-
Mark
Quality of life of Hurler syndrome patients after successful hematopoietic stem cell transplantation
(
- Contribution to journal › Article
-
Mark
Non-motor symptoms and quality of life in dopa-responsive dystonia patients
(
- Contribution to journal › Article
-
Mark
Rapid targeted genomics in critically ill newborns
(
- Contribution to journal › Article
-
Mark
Amino acid synthesis deficiencies
(
- Contribution to journal › Scientific review
-
Mark
The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy : An observational prospective open-label study
(
- Contribution to journal › Article
-
Mark
The hidden Niemann-Pick type C patient : clinical niches for a rare inherited metabolic disease
(
- Contribution to journal › Article
-
Mark
A post hoc study on gene panel analysis for the diagnosis of dystonia
(
- Contribution to journal › Article
-
Mark
Using the shared genetics of dystonia and ataxia to unravel their pathogenesis
(
- Contribution to journal › Scientific review
-
Mark
GAVIN : Gene-Aware Variant INterpretation for medical sequencing
(
- Contribution to journal › Article
-
Mark
Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders
(
- Contribution to journal › Article
- 2016
-
Mark
Neonates at risk of medium-chain acyl-CoA dehydrogenase deficiency : A perinatal protocol for use before population neonatal screening test results become available
(
- Contribution to journal › Letter
-
Mark
Neurometabolic disorders are treatable causes of dystonia
(
- Contribution to journal › Article
-
Mark
Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C
(
- Contribution to journal › Article
-
Mark
Teaching Video Neuro Images : The "round the houses" sign as a clinical clue for Niemann-Pick disease type C
(
- Contribution to journal › Debate/Note/Editorial
-
Mark
Polyhydramnios, transient antenatal bartter's syndrome, and MAGED2 mutations
(
- Contribution to journal › Article
-
Mark
Serotonergic perturbations in dystonia disorders-a systematic review
(
- Contribution to journal › Scientific review
-
Mark
Patience is the key : Contraceptive induced chorea in a girl with Down Syndrome
(
- Contribution to journal › Article
-
Mark
Inborn Errors of Metabolism That Cause Sudden Infant Death : A Systematic Review with Implications for Population Neonatal Screening Programmes
(
- Contribution to journal › Scientific review
-
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
-
Mark
Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics : The opportunities and challenges
(
- Contribution to journal › Scientific review
-
Mark
Dystonia in children and adolescents : A systematic review and a new diagnostic algorithm
(
- Contribution to journal › Scientific review
-
Mark
Cortical Myoclonus in a Young Boy with GOSR2 Mutation Mimics Chorea
(
- Contribution to journal › Article
-
Mark
Movement disorders in 2014 : Genetic advances spark a revolution in dystonia phenotyping
(
- Contribution to journal › Scientific review
-
Mark
Myoclonus in childhood-onset neurogenetic disorders : The importance of early identification and treatment
(
- Contribution to journal › Article
-
Mark
Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI
(
- Contribution to journal › Article
-
Mark
A novel diagnostic approach to patients with myoclonus
(
- Contribution to journal › Scientific review
-
Mark
Genome-wide association study of NMDA receptor coagonists in human cerebrospinal fluid and plasma
(
- Contribution to journal › Article
-
Mark
Non-motor symptoms in genetically defined dystonia : Homogenous groups require systematic assessment
(
- Contribution to journal › Scientific review
-
Mark
Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation : An international multicenter study
(
- 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
Serine synthesis disorders
2014) p.123-131(
- Chapter in Book/Report/Conference proceeding › Book chapter
-
Mark
Assessment of speech in early-onset ataxia : A pilot study
(
- Contribution to journal › Article
-
Mark
Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency
(
- Contribution to journal › Article
-
Mark
Periodic fever in MVK deficiency : A patient initially diagnosed with incomplete Kawasaki disease
(
- Contribution to journal › Article
-
Mark
Ramsay hunt syndrome : Clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation
(
- Contribution to journal › Article
-
Mark
Impaired cognitive functioning in patients with tyrosinemia type i receiving nitisinone
(
- Contribution to journal › Article
- 2013
-
Mark
High incidence of symptomatic hyperammonemia in children with acute lymphoblastic leukemia receiving pegylated asparaginase
(
- Chapter in Book/Report/Conference proceeding › Book chapter
-
Mark
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency
(
- Chapter in Book/Report/Conference proceeding › Book chapter
-
Mark
Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria
(
- Contribution to journal › Article
-
Mark
D-amino acid aberrations in cerebrospinal fluid and plasma of smokers
(
- Contribution to journal › Article
-
Mark
An update on serine deficiency disorders
(
- Contribution to journal › Article
-
Mark
Amino acid synthesis deficiencies
(
- Chapter in Book/Report/Conference proceeding › Book chapter
-
Mark
The Intestine Plays a Substantial Role in Human Vitamin B6 Metabolism : A Caco-2 Cell Model
(
- Contribution to journal › Article
- 2012
-
Mark
D-serine influences synaptogenesis in a P19 cell model
(
- Chapter in Book/Report/Conference proceeding › Book chapter
-
Mark
Neurodegeneration with brain iron accumulation on MRI : An adult case of α-mannosidosis
(
- Chapter in Book/Report/Conference proceeding › Book chapter
-
Mark
The proline/citrulline ratio as a biomarker for OAT deficiency in early infancy
(
- Chapter in Book/Report/Conference proceeding › Book chapter
-
Mark
A common variant in ERBB4 regulates gaba concentrations in human cerebrospinal fluid
(
- Contribution to journal › Article
-
Mark
Vitamin B6 Vitamer concentrations in cerebrospinal fluid differ between preterm and termnewborn infants
(
- Contribution to journal › Article
-
Mark
Increased concentrations of both NMDA receptor co-agonists d-serine and glycine in global ischemia : A potential novel treatment target for perinatal asphyxia
(
- Contribution to journal › Article
-
Mark
Identification of a human trans-3-hydroxy-L-proline dehydratase, the first characterized member of a novel family of proline racemase-like enzymes
(
- Contribution to journal › Article
-
Mark
Quantification of vitamin B6 vitamers in human cerebrospinal fluid by ultra performance liquid chromatography-tandem mass spectrometry
(
- Contribution to journal › Article
- 2011
-
Mark
A sensitive and simple ultra-high-performance-liquid chromatography-tandem mass spectrometry based method for the quantification of d-amino acids in body fluids
(
- Contribution to journal › Article
-
Mark
Orthopaedic management of Hurler's disease after hematopoietic stem cell transplantation : A systematic review
(
- Contribution to journal › Scientific review