GLUT1 Deficiency Syndrome with Novel mutation responsive to GPi DBS
Objective: To describe a case of a patient with a progressive primary isolated generalized dystonia of childhood onset associated to a novel SLC2A1 mutation with…Burden of COVID-19 among patients with Parkinson’s disease and associated clinical outcomes: Evidence from a meta-analysis
Objective: To understand the burden of covid-19 among patients with Parkinson’s disease and associated clinical outcomes. Background: COVID-19 has affected millions of patients around the…Cerebellar and other motor symptoms relationship with MRI features in Huntington disease.
Objective: To analyze the relationship between motor scales and brain magnetic resonance imaging (MRI) features in a cohort of Huntington disease (HD) patients. Background: Cerebellar…Can membrane association of α-synuclein aggregates lead to stress in the astrocytic endoplasmic reticulum?
Objective: To study the association extracellularly added wildtype-WT and A30P/A53T mutant α-synuclein aggregates with the astrocytic membrane and to evaluate the effect of these peptides…Fundamental changes in Nerve Conduction Velocity and hyperpolarization latency of action potential of Sciatic nerve at the pre-motor phase in a chronic PD in vivo model: a neurotool for Parkinson’s disease diagnosis
Objective: To evaluate the changes in NCV and hyperpolarization latency of action potential of Sciatic nerve at the pre-motor phase in MPTP induced chronic PD…Retinal thickness as a marker of disease progression in progressive supranuclear palsy
Objective: We measured changes of retinal thickness, and compare them with clinical features and intracranial neurodegeneration in progressive supranuclear palsy (PSP) cohort. Background: PSP has a…CCDC88C p.R464H likely cause a novel late-onset parkinsonism phenotype
Objective: We describe two sisters with late-onset parkinsonism associated with a CCDC88C variant (p.R464H). Background: Tsoi et al. (2014) identified a heterozygous missense mutation in the CCDC88C gene (R464H), by…Multi-modal MRI features and their relationship with clinical scales in Parkinson disease and Atypical Parkinsonian Syndromes
Objective: To compare MRI sings and volumetric measurements in Parkinson disease (PD), Progressive Supranuclear Palsy (PSP), and Multiple System Atrophy (MSA) and their relationship with…Mutational effects of LRRK2 I1371V in astrocytes derived from patient specific iPSCs
Objective: To identify the LRRK2 I1371V mutational effects on astroglial biology involving glutamate metabolism and glutathione machinery. Background: The underlying cause of most of the familial…Alteration of the fecal microbiota in Turkish patients with idiopathic Parkinson’s disease
Objective: To determine whether the gut microbiota is altered in Turkish patients with Parkinson Disease (PD) and the potential effect of gut microbiota on pre-motor…
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