Analysis of temporal gait features extracted from accelerometer-based signals during ambulatory walking in Parkinson’s disease
Objective: To perform a proof-of-concept study showing the utility of versatile algorithms aimed at objectively quantifying the duration of refined gait features during ambulatory walking…Primary progressive aphasia and frontotemporal dementia in an Irish-American family due to a novel progranulin mutation
Objective: To report the first Irish family with FTLD and a novel granulin (GRN) mutation. Background: Frontotemporal lobar degeneration (FTLD) is the second most common…A clinico-genetical study in a large cohort of patients with spastic paraplegia type 4 (SPG4)
Objective: This study includes the evaluation of a comprehensive spectrum of neurological features and the mutational screening of the SPG4/SPAST gene in patients with hereditary…Clinical phenotype of Parkinsonian patients with α-synuclein mutation: Our case report and review of the literature
Objective: To illustrate the case of a 60 years old woman with A53T point mutation derived Parkinson's disease (PD) and to review SNCA mutations phenotype,…Familial Parkinson’s disease in Ireland
Objective: To study the phenotype and subtypes of familial Parkinson's disease (PD) in Ireland, establish the genetic background in a cohort of Irish PD patients…Investigating voice as a biomarker of LRRK2-associated Parkinson’s disease (PD)
Objective: To test for an association between LRRK2 mutation and pathological changes in voice. Background: Voice impairment, characterized by reduced volume, breathiness, roughness and exaggerated…Analysis of the genetic variability in Parkinson’s disease from southern Spain
Objective: Our study was to assess the contribution of known genes in a cohort diagnosed with either familial (FPD) or early-onset sporadic PD (EOPD) from…L-dopa-responsive, diurnally fluctuating auricular tremor with tetrahydrobiopterin (BH4) deficiency
Objective: To report a patient with L-dopa-responsive, diurnally fluctuating auricular tremor with tetrahydrobiopterin (BH4) deficiency. Background: Although segmental dystonia of the cranial muscles is recognized,…A descriptive study on the safety and feasibility of mesenchymal stem cell therapy for Parkinson’s disease: A case series
Objective: To describe the incidence and severity of infusion-related adverse events of mesenchymal stem cells (MSC) for Parkinson's disease in patients who underwent treatment. Background:…Defective ubiquitinated mitochondria accumulation in aged Parkinsonian LRRK2R1441G knockin mice
Objective: (1) To determine potential accumulation of defective ubiquitinated mitochondria in the brains of aged LRRK2R1441G knockin (KI) mice and their age-matched wildtype controls; and…
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