Biochemical markers of glucocerebrosidase (GCase) deficiency in primary macrophages derived from GBA1 mutation carriers with and without Parkinson’s disease
Objective: The aim of the present study was to assess biochemical markers in primary macrophages that could distinguish patient with Parkinson’s disease linked to mutations…Relationship between lesion topography and incidence of dyskinesias following focused ultrasound subthalamotomy.
Objective: To describe the relation between the topography of subthalamotomy by focused ultrasound (FUS) for the treatment of Parkinson’s disease (PD) (1), and the risk…Aromatic L-amino acid decarboxylase deficiency: A rare disease case report and literature review
Objective: We review the presentation of a 3-month-old patient who came to our institution with symptoms of dystonia, oculogyric crises, hypotonia, developmental delay, and dysphagia,…The effect of co-administration of opicapone on the pharmacokinetics of levodopa
Objective: Few studies have examined levodopa (LD) pharmacokinetics in combination with opicapone (OPC) in Japanese patients with Parkinson's disease (PD). Therefore, we investigated changes in…Two cases of myoclonic ataxia with and without epilepsy associated with NUS1
Objective: To describe two cases of myoclonic ataxia due to two novel NUS1 pathogenic variants Background: The genetic bases of myoclonus is not well defined. Myoclonus is…Language Impairment in Isolated Rapid Eye Movement Sleep Behavior Disorder and de-novo Parkinson’s disease
Objective: This study aimed to examine whether the language impairment is presented in isolated rapid eye movement sleep behavior disorder (iRBD) and early-stage Parkinson’s disease…Defining minimal clinically important differences in Huntington’s disease: An anchor-based approach
Objective: This study aims to estimate the longitudinal minimal clinically important difference (MCID) for HD-relevant, cognitive, motor, and functional outcome measures. We used the new…MPTP-induced structural reorganization of neurons in mice Basal Ganglia: Verifying the sequelae of differential toxicity
Objective: To evaluate the changes in the neuronal arborization of the medium spiny neurons of striatum & substantia nigra neurons, in response to MPTP in…Caregiver’s burden in Parkinson’s disease: A mixed methods study
Objective: This study had a two-fold aim: (i) to assess how characteristics of informal caregivers and people with PD affect caregiver burden and (ii) to…Cortical Correlates of Gait in Pre-Manifest And Early Spinocerebellar Ataxia
Objective: We investigated whether prefrontal cortex activity is increased during walking in pre-manifest and early spinocerebellar ataxia (SCA) compared to healthy controls. Background: Spinocerebellar ataxia…
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