Neural correlates of Parkinson’s disease dysgraphia
Objective: This study aims to evaluate the functional correlates of Parkinson’s disease (PD) dysgraphia from coupled fMRI and kinematic recordings. Background: Beyond the abnormal reduction…PHENOTYPIC DESCRIPTION OF TWO UNREPORTED FAMILIES WITH ANO3 DYSTONIA
Objective: This is the phenotypic description of two families affected by hereditary dystonia associated to gene ANO3 mutation (DYT24), one with a heterozygous verisimilarly pathogenic…A patient with childhood-onset hearing loss and adult-onset ataxia was genetically diagnosed with Perrault syndrome 5
Objective: A case of adult-onset ataxia with multiple neurologic deficits and ovarian dysgenesis was genetically diagnosed as Perrault syndrome 5 for the first time in…Patterns of early-phase 18F-FP-CIT PET images and the risk of dementia conversion in Parkinson’s disease
Objective: This study aims to investigate the prognostic relevance of the patterns of early-phase 18F-fluorinated N-3-fluoropropyl-2-beta-carboxymethoxy-3-beta-(4-iodophenyl) nortropane (18F-FP-CIT) positron emission tomography (PET) images in patients…MIBG uptakes in the major salivary glands among Lewy body disease using a semi-automatic quantitative method
Objective: The purpose of the study is to analyze 123I-metaiodobenzhylguanidine (MIBG) uptakes in the submandibular and parotid glands in patient with Lewy body disease (LBD)…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…
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