Movement Disorders In Children With Monoamine Neurotransmitter Disorders
Objective: To describe clinical, para-clinical, therapeutic and evolutionary characteristics of movement disorders (MD) and oculogyric crises (OC) in children with monoamine neurotransmitter disorders (MND) Background:…Parkinsonism in combined Fragile X and XYY Syndromes: A Case Report
Objective: We describe an unusual case of parkinsonism in a 45-year-old male with Fragile X syndrome and XYY syndrome. Background: Fragile X syndrome (FXS) is…A Benign Course of Parkinson’s Disease Associated with Different Mutations in the Glucocerebrosidase (GBA) Gene – a Case Series.
Objective: To describe a subtype of GBA-associated Parkinson's disease with a benign motor and cognitive course of disease. Background: Subjects carrying mutations in the GBA…Remote DNA Collection for Parkinson’s Research: Insights from AccessPD
Objective: Established in 2022, the AccessPD registry aims to create a comprehensive database of electronic health records, self-reported outcomes, and genetic data from Parkinson's disease…Unraveling the Role of Short Tandem Repeats in Parkinson’s disease, Essential tremor, and Amyotrophic lateral sclerosis: A Large Chinese Cohort Study
Objective: This study investigates the prevalence and impact of short tandem repeat (STR) mutations in the next-generation sequencing data of patients with Parkinson’s disease (PD), essential…Bidirectional Relationship Between Olfaction and Parkinson’s Disease
Objective: To establish a causal direction and genetic relationship between olfactory function and Parkinson’s disease (PD). Background: Degradation in olfactory function or hyposmia is a…A UK-wide Effort for Identification of Loci for Autosomal Dominant Parkinson’s Disease
Objective: (i) To describe the demographic, clinical and genetic features of a large cohort of familial autosomal dominant Parkinson’s disease (PD) patients in the UK.(ii)…A new phenotype-genotype correlation for FIG4 gene and Parkinson’s disease
Objective: We present a patient with atypical Parkinson’s disease (PD), carrying a homozygous missense mutation of FIG4. Background: FIG4 is involved in endosomal-lysosomal trafficking and…Transition from Zinc Salts to Trientine Tetrahydrochloride in Wilson Disease: Clinical and Biochemical Effects over Two Years – the ZICUP study
Objective: To assess the clinical and biochemical effects of transitioning from zinc salts (ZS) to trientine tetrahydrochloride (TETA4HCL) in Wilson disease (WD) patients over a…Dopa-responsive ataxia with compound heterozygous variants in MRE11
Objective: To evaluate the role for levodopa in patients with ataxia telangiectasia like disorder (ATLD) who have a compound heterozygous mutation in MRE11. Background: Early-onset…
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