Search Results - "Faber, Ingrid"
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1
Coronavirus Disease 2019 and Parkinsonism: A Non‐post‐encephalitic Case
Published in Movement disorders (01-10-2020)Get full text
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2
The use of intravenous immunoglobulin as a rescue therapy for refractory parainfectious leprosy-related neuritis: a case series
Published in Anais brasileiros de dermatología (01-09-2024)Get full text
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3
Structural signature in SCA1: clinical correlates, determinants and natural history
Published in Journal of neurology (01-12-2018)“…Spinocerebellar ataxia type 1 is an autosomal dominant disorder caused by a CAG repeat expansion in ATXN1 , characterized by progressive cerebellar and…”
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4
Hereditary spastic paraplegia from 1880 to 2017: an historical review
Published in Arquivos de neuro-psiquiatria (01-11-2017)“…ABSTRACT The authors have constructed a brief timeline of major clinical research related to hereditary spastic paraplegia (HSP). This timeline summarizes the…”
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5
Translation and validation into Brazilian Portuguese of the Spastic Paraplegia Rating Scale (SPRS)
Published in Arquivos de neuro-psiquiatria (01-06-2016)“…ABSTRACT Hereditary spastic paraplegias (HSP) are characterized by progressive lower limb weakness and spasticity. There are no validated instruments to…”
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6
SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage
Published in NeuroImage clinical (01-01-2018)“…SPG11 mutations are the major cause of autosomal recessive Hereditary Spastic Paraplegia. The disease has a wide phenotypic variability indicating many regions…”
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7
Botulinum toxin for hereditary spastic paraplegia: effects on motor and non-motor manifestations
Published in Arquivos de neuro-psiquiatria (01-03-2018)“…ABSTRACT Motor and non-motor manifestations are common and disabling features of hereditary spastic paraplegia (HSP). Botulinum toxin type A (Btx-A) is…”
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8
Cognitive dysfunction in hereditary spastic paraplegias and other motor neuron disorders
Published in Dementia & neuropsychologia (01-12-2016)“…Hereditary spastic paraplegia (HSP) is a diverse group of single-gene disorders that share the predominant clinical feature of progressive lower limb…”
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9
Clinical features and management of hereditary spastic paraplegia
Published in Arquivos de neuro-psiquiatria (01-03-2014)“…Hereditary spastic paraplegia (HSP) is a group of genetically-determined disorders characterized by progressive spasticity and weakness of lower limbs. An…”
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10
Derek Denny-Brown: the man behind the ganglia
Published in Arquivos de neuro-psiquiatria (01-02-2017)“…ABSTRACT The authors present an historical review about the main contributions of Professor Derek Denny-Brown to neurology. Some of his achievements include…”
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Leading RNA Interference Therapeutics Part 1: Silencing Hereditary Transthyretin Amyloidosis, with a Focus on Patisiran
Published in Molecular diagnosis & therapy (01-02-2020)“…In 2018, patisiran was the first-ever RNA interference (RNAi)-based drug approved by the US Food and Drug Administration. Now pharmacology textbooks may…”
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12
Randomized Trial of Botulinum Toxin Type A in Hereditary Spastic Paraplegia — The SPASTOX Trial
Published in Movement disorders (01-07-2021)“…Background Hereditary spastic paraplegia presents spasticity as the main clinical manifestation, reducing gait quality and producing incapacity. Management…”
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13
Differential diagnosis between multiple sclerosis and leukodystrophies – A scoping review
Published in Journal of the neurological sciences (15-04-2024)“…Multiple Sclerosis (MS) is an autoimmune demyelinating disease of the central nervous system (CNS) characterized by damage to the myelin sheaths of…”
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14
SPG11‐related parkinsonism: Clinical profile, molecular imaging and l‐dopa response
Published in Movement disorders (01-10-2018)“…Background: Molecular imaging has proven to be a powerful tool to elucidate degenerated paths in a wide variety of neurological diseases and has not been…”
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15
Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS
Published in Parkinsonism & related disorders (01-05-2019)“…Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an important form of inherited ataxia with a varied clinical spectrum. Detailed studies…”
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Structural signature of classical versus late‐onset friedreich's ataxia by Multimodality brain MRI
Published in Human brain mapping (01-08-2017)“…Introduction Friedreich's ataxia (FRDA) is the most common autosomal‐recessive ataxia worldwide. It is characterized by early onset, sensory abnormalities, and…”
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17
Autoimmune neuropathies associated to rheumatic diseases
Published in Autoimmunity reviews (01-04-2017)“…Abstract Systemic manifestations are frequent in autoimmune rheumatic diseases and include peripheral nervous system damage. Neuron cell body, axons and myelin…”
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Autonomic dysfunction is frequent and disabling in non-paraneoplastic sensory neuronopathies
Published in Journal of the neurological sciences (15-07-2019)“…Sensory neuronopathies (SN) are characterized by asymmetric non-length dependent sensory deficits and sensory ataxia. Autonomic dysfunction in SN was not yet…”
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F40. Myotonic discharges in a cohort of patients with centronuclear myopathies
Published in Clinical neurophysiology (01-05-2018)“…Electromyography (EMG) is a useful ancillary test in the diagnosis of neuromuscular disorders. EMG patterns may be helpful to identify specific subtypes of…”
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Improving accessibility to radiotherapy services in Cali, Colombia: cross-sectional equity analyses using open data and big data travel times from 2020
Published in International journal for equity in health (15-08-2024)“…In this study, we evaluated and forecasted the cumulative opportunities for residents to access radiotherapy services in Cali, Colombia, while accounting for…”
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