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…Oscillatory signatures of genetic Parkinson’s disease patients in subthalamic macroelectrode recordings
Objective: With electrophysiologically guided adaptive deep brain stimulation (aDBS) fast approaching clinical routine, oscillatory properties in all Parkinson’s disease (PD) patients must be characterised. Genetic…Cervical Vestibular-Evoked Myogenic Potentials in Patients with Parkinson’s Disease
Objective: to examine the functioning of the brain stem and to gain insight into the irregularities of cervical vestibular-evoked myogenic potentials (cVEMPs) in patients with…Harnessing chaperone-mediated autophagy through viral-based LAMP2A overexpression in non-human primates as a Treatment of Parkinson’s Disease
Objective: This project aimed to investigate whether the CMA lysosomal pathway induction may benefit the highest-order mammalian synucleinopathy model, the non-human primate, by targeting CMA’s…Prokineticin-2 is highly expressed in colonic mucosa of early Parkinson’s disease patients
Objective: To investigate the expression of PK2 in colonic biopsies of PD patients. Background: Neuroinflammation is emerging as a key factor involved in the pathophysiology…Women with Parkinson’s disease: exploring the occurrence of hormone-related symptom fluctuations and associated care
Objective: To explore the occurrence of hormone-related symptom fluctuations and associated care in women with Parkinson’s disease (PD). Background: Pre- and (peri)menopausal women with PD…
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