Identification and Screening of Candidate Genes for Paroxysmal Movement Disorders by Next Generation Sequencing Approach for Developing Molecular Diagnostics.
Objective: To explore the clinical and genetic features of Paroxysmal Movement Disorders by using Whole Exome Sequencing. Background: Paroxysmal movement disorders (PMDs) comprise both paroxysmal…New Pathological Findings in an International Cohort of Hereditary Spastic Paraplegia 4 Patients
Objective: To determine the clinical and genetic differences in hereditary spastic paraplegia SPG4 patients across various countries. Background: SPG4/SPAST gene account for approximately 40% of…Implications of BSCL2 Mutation in the Pathogenesis of Parkinson’s Disease
Objective: To report a case of a probable association between a mutation in the BSCL2 gene (Berardinelli-Seip Congenital Lipodystrophy 2) and Parkinson's disease (PD). Background:…Differences in Oculometric Measures between Patients with LRRK2-associated and Idiopathic Parkinson’s Disease
Objective: To examine the use of oculometric measures (OMs) as a tool to differentiate patients with Leucine-Rich Repeat Kinase (LRRK2) - associated (L2PD) and idiopathic…Causal effects of sarcopenia-related traits on risk and progression of Parkinson’s disease: a Mendelian randomization study
Objective: To examine causal associations between sarcopenia-related traits and the risk or progression of Parkinson’s disease (PD) using a Mendelian randomization (MR) approach. Background: Previous…Genetic Analysis of Mendelian mutations in A Large Chinese Early-onset and Familial Parkinson’s Disease
Objective: This study aims to determine the mutation spectrum of Mendelian Parkinson’s disease (PD) genes and clinical features of mutation carriers within a cohort of early-onset…Association of Impulse Control Disorder with GRIN2B Gene Polymorphisims in Parkinson Disease
Objective: The aim of this study was to investigate the effect of GRIN2B gene rs1806201 and rs7301328 polymorphisms on the development of Impulse Control Disorder…Can Heterozygous Autosomal Recessive Mutations Cause Neurological Disease?
Objective: To highlight the significance of heterozygous PLA2G6 and PRKN gene mutations in causing parkinsonism. Background: We report our observations in two families with multiple…Clinical, Radiological and Genetic profile of Eight Patients with Genetically Proven Ceroid Lipofuscinosis Neuronal and Movement Disorders
Objective: To study the spectrum of movement disorders phenomenologies (MDs) in genetically proven ceroid lipofuscinosis neuronal (CLNs) Background: MDs are increasingly recognized in the CLNs…Phenomenology of Coenzyme Q10-deficiency Spinocerebellar Ataxia: Case Description Of Two Siblings And New Therapeutic Perspectives
Objective: To describe the phenomenology of SCAR9, caused by a homozygotic mutation in COQ8A gene, and to describe the positive effects of a holistic approach…
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