Search Results - "Elia, Antonio E"
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Effects of COVID‐19 on Parkinson's Disease Clinical Features: A Community‐Based Case‐Control Study
Published in Movement disorders (01-08-2020)“…The impact of coronavirus disease 2019 (COVID‐19) on clinical features of Parkinson's disease (PD) has been poorly characterized so far. Of 141 PD patients…”
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Deep brain stimulation for dystonia due to cerebral palsy: A review
Published in European journal of paediatric neurology (01-03-2018)“…Cerebral palsy (CP) is a heterogeneous group of syndromes that cause a non-progressive disorder of early onset, with abnormal control of movement and posture…”
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Predictors of COVID-19 outcome in Parkinson's disease
Published in Parkinsonism & related disorders (01-09-2020)“…Specific pre-existing medical conditions (e.g. hypertension or obesity), advanced age and male sex appear linked to more severe manifestations of SARS Co-V2…”
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ANO3 as a Cause of Early‐Onset Chorea Combined with Dystonia: Illustration of Phenotypic Evolution
Published in Movement disorders (01-01-2024)Get full text
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Reply to: “Heterogeneous Phenotypic Evolution in ANO3‐Related Dystonia Due to the Recurrent p.Glu510Lys Variant”
Published in Movement disorders (01-03-2024)Get full text
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Skin Nerve Phosphorylated α-Synuclein Deposits in Parkinson Disease With Orthostatic Hypotension
Published in Journal of neuropathology and experimental neurology (01-10-2018)“…Abstract This study aimed to investigate phosphorylated α-synuclein (p-syn) in autonomic skin nerves of Parkinson disease (PD) patients with and without…”
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Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation
Published in Human mutation (01-12-2018)“…Mitochondrial dynamics and quality control are crucial for neuronal survival and their perturbation is a major cause of neurodegeneration. m‐AAA complex is an…”
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Deep brain stimulation in Huntington’s disease: a literature review
Published in Neurological sciences (01-11-2021)“…Background Huntington’s disease (HD) is a neurodegenerative disorder characterized by involuntary movements, cognitive decline, and behavioral changes. The…”
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Causes of withdrawal of duodenal levodopa infusion in advanced Parkinson disease
Published in Neurology (21-04-2015)“…OBJECTIVE:We performed a real-life observation of patients with Parkinson disease (PD) who received duodenal levodopa infusion (DLI) to determine which adverse…”
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EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia
Published in Annals of neurology (01-03-2021)“…Objective The study was undertaken to identify a monogenic cause of early onset, generalized dystonia. Methods Methods consisted of genome‐wide linkage…”
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Quantitative gait analysis in parkin disease: Possible role of dystonia
Published in Movement disorders (01-11-2016)“…ABSTRACT Introduction Parkin disease (PARK2, OMIM 602544) is an autosomal‐recessive early‐onset parkinsonism characterized by an early occurrence of lower limb…”
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Levodopa–carbidopa intrajejunal infusion in Parkinson’s disease: untangling the role of age
Published in Journal of neurology (01-05-2021)“…Objectives Levodopa–Carbidopa Intrajejunal gel (LCIG) infusion is an effective intervention for people with advanced Parkinson’s disease (PD). Although age may…”
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Prevalence of psychiatric disorders in patients with inherited or idiopathic dystonia
Published in Parkinsonism & related disorders (01-02-2018)Get full text
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Alpha-synuclein gene duplication: Marked intrafamilial variability in two novel pedigrees
Published in Movement disorders (01-06-2013)“…ABSTRACT Background Multiplications of the SNCA gene that encodes alpha‐synuclein are a rare cause of autosomal dominant Parkinson's disease (PD). Methods…”
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In vivo evidence for GABA(A) receptor changes in the sensorimotor system in primary dystonia
Published in Movement disorders (01-04-2011)“…Preclinical and clinical evidence suggests that impaired gamma-aminobutyric (GABA) control, leading to disinhibition within the sensorimotor system, might play…”
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Isolated limb dystonia as presenting feature of Parkin disease
Published in Journal of neurology, neurosurgery and psychiatry (01-07-2014)“…Table 1 Patients Patient 1 2 3 4 5 6 7 8 Age at onset 44 11 34 44 41 17 29 11 Duration (years) 14 19 16 4 3 17 9 10 Duration of isolated dystonia before onset…”
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In vivo evidence for GABAA receptor changes in the sensorimotor system in primary dystonia
Published in Movement disorders (01-04-2011)“…Background: Preclinical and clinical evidence suggests that impaired gamma‐aminobutyric (GABA) control, leading to disinhibition within the sensorimotor…”
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Aceruloplasminemia: Unique Clinical and MRI Findings in a Patient with a Novel Frameshift Mutation
Published in Movement disorders clinical practice (Hoboken, N.J.) (01-08-2024)Get full text
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