Search Results - "Barsottini, Orlando Graziani P"
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Brain Damage and Gene Expression Across Hereditary Spastic Paraplegia Subtypes
Published in Movement disorders (01-07-2021)“…ABSTRACT Background Spinal cord has been considered the main target of damage in hereditary spastic paraplegias (HSPs), but mounting evidence indicates that…”
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Neuroimaging in Hereditary Spastic Paraplegias: Current Use and Future Perspectives
Published in Frontiers in neurology (16-01-2019)“…Hereditary spastic paraplegias (HSP) are a large group of genetic diseases characterized by progressive degeneration of the long tracts of the spinal cord,…”
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A Proposal for Classification of Retinal Degeneration in Spinocerebellar Ataxia Type 7
Published in Cerebellum (London, England) (01-06-2021)“…The aim of this study is to propose a classification system for the spinocerebellar ataxia type 7 retinal degeneration (SCA7-RD). Twenty patients with…”
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Dysautonomia in RFC1-related disorder: Clinical and neurophysiological evaluation
Published in Clinical neurophysiology (01-10-2022)“…•Autonomic dysfunction involves multiple domains in RFC1-related disorder.•This condition is characterized by a small fiber autonomic axonopathy.•Sympathetic…”
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Nonmotor and extracerebellar features in Machado-Joseph disease: A review
Published in Movement disorders (01-08-2013)“…ABSTRACT Spinocerebellar ataxia type 3 or Machado‐Joseph disease is the most common spinocerebellar ataxia worldwide, and the high frequency of nonmotor…”
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Excessive fragmentary myoclonus in Machado–Joseph disease
Published in Sleep medicine (01-03-2014)“…Abstract Objective Machado–Joseph disease (MJD) is a neurodegenerative disease which usually presents several clinical findings including cerebellar ataxia and…”
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Rapid Eye Movement Sleep Behavior Disorder in Paraneoplastic Cerebellar Degeneration: Improvement with Immunotherapy
Published in Sleep (New York, N.Y.) (01-01-2016)“…To report two female patients with paraneoplastic cerebellar degeneration (PCD) related to breast cancer that presented with rapid eye movement-sleep behavior…”
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