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Lista de obras de Orlando G. Barsottini

"Hot cross bun" sign resembling multiple system atrophy in a patient with Machado-Joseph disease.

artículo científico publicado en 2013

A Real-World Study of Cerebral 99mTc-TRODAT-1 Single-Photon Emission Computed Tomography (SPECT) Imaging of the Dopamine Transporter in Patients with Parkinson Disease from a Tertiary Hospital in Brazil

artículo científico publicado en 2020

A clinical approach to hypertrophic pachymeningitis

scientific article published on 07 December 2020

A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging.

artículo científico publicado en 2016

ACTH-induced dyskinesia in a child with West syndrome (infantile spasms)

artículo científico publicado en 2016

ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease

artículo científico publicado en 2015

ATXN3, ATXN7, CACNA1A, and RAI1 Genes and Mitochondrial Polymorphism A10398G Did Not Modify Age at Onset in Spinocerebellar Ataxia Type 2 Patients from South America

artículo científico publicado en 2015

Acute cerebellar ataxia: differential diagnosis and clinical approach

scientific article published on 01 March 2019

Acute parkinsonism in Cryptococcus gattii meningoencephalitis: extensive lesions in basal ganglia

artículo científico publicado en 2012

Adult onset Alexander disease presenting with progressive spastic paraplegia.

artículo científico publicado en 2013

Adult onset sporadic ataxias: a diagnostic challenge.

artículo científico

Akathisia: An unusual movement disorder in Machado-Joseph disease

artículo científico publicado en 2011

Alpha-fetoprotein as a biomarker for recessive ataxias

artículo científico publicado en 2010

Aniridia as a clue for the diagnosis of Gillespie syndrome

artículo científico publicado en 2020

Anterior horn degeneration in Machado-Joseph disease.

artículo científico publicado en 2016

Arm Levitation as Initial Manifestation of Creutzfeldt-Jakob Disease: Case Report and Review of the Literature

scientific article published on 10 December 2018

Association of optic atrophy and type 1 diabetes: clinical hallmarks for the diagnosis of Wolfram syndrome

artículo científico publicado en 2015

Atypical manifestations in Brazilian patients with neuro-Behçet's disease.

artículo científico publicado en 2011

Babinski's contributions to cerebellar symptomatology: building the basis of the neurological examination

artículo científico publicado en 2013

Brain atrophy after cortical hyperintensities in systemic lupus erythematosus

artículo científico publicado en 2015

Broad thumbs and broad hallux: the hallmarks for the Rubinstein-Taybi syndrome

artículo científico publicado en 2014

Case 241.

artículo científico publicado en 2017

Case 241: Hemiparkinsonism- Hemiatrophy-SPECT with 99mTc TRODAT-1 and Muscle MR Imaging Abnormalities.

artículo científico publicado en 2017

Central nervous system vasculitis in a patient with HIV infection: a diagnostic challenge

scientific article published on 01 December 2017

Central nervous system vasculitis in adults: An update

artículo científico publicado en 2017

Cerebellar ataxia associated to anti-glutamic acid decarboxylase autoantibody (anti-GAD): partial improvement with intravenous immunoglobulin therapy

artículo científico publicado en 2011

Cervical and ocular vestibular evoked potentials in Machado-Joseph disease: Functional involvement of otolith pathways

artículo científico publicado en 2015

Characterisation of ataxia in Sjogren's syndrome

artículo científico publicado en 2020

Clinical and epidemiological profiles of non-traumatic myelopathies.

artículo científico publicado en 2016

Clinical and molecular neuroimaging characteristics of Brazilian patients with Parkinson's disease and mutations in PARK2 or PARK8 genes.

artículo científico publicado en 2009

Clinical features of dystonia in atypical parkinsonism

scientific article published on 01 December 2008

Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed

scientific article published on 01 June 2013

Cognition in SCA21 reflects developmental and adult onset cerebellar cognitive affective syndrome.

artículo científico publicado en 2015

Cognitive and Psychiatric Evaluation in SYNE1 Ataxia

artículo científico publicado en 2019

Cognitive and olfactory deficits in Machado-Joseph disease: a dopamine transporter study.

artículo científico publicado en 2012

Cognitive deficits in Machado-Joseph disease correlate with hypoperfusion of visual system areas.

artículo científico publicado en 2012

Cognitive dysfunction in spinocerebellar ataxia type 3: variable topographies and patterns

artículo científico publicado en 2013

Complex movement disorders in fatal familial insomnia: a clinical and genetic discussion.

artículo científico publicado en 2013

Correction to: Selective Forces Related to Spinocerebellar Ataxia Type 2

artículo científico publicado en 2019

Cryopyrin associated periodic syndrome with neurological involvement in a 50-year-old patient

artículo científico publicado en 2014

Current concepts in the treatment of hereditary ataxias

artículo científico publicado en 2016

Delirium, psychosis, and visual hallucinations induced by pregabalin

artículo científico publicado en 2012

Dentatorubro-Pallidoluysian Atrophy (DRPLA) among 700 Families with Ataxia in Brazil

artículo científico publicado en 2017

Differentiation of Parkinson's disease and progressive supranuclear palsy with magnetic resonance imaging: the first Brazilian experience.

artículo científico publicado en 2007

Does the patient's hand hold the key to preventing secondary generalization in mesial temporal lobe epilepsy?

artículo científico publicado el 13 de marzo de 2013

Dopamine transporter imaging using 99mTc-TRODAT-1 SPECT in Parkinson's disease

artículo científico publicado en 2014

Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis

artículo científico publicado en 2013

Dyke-Davidoff-Masson syndrome: a combination of clinical and radiological signs not to be missed.

artículo científico publicado en 2013

Dystonia as a first presentation of cryptogenic stroke in a young patient with right-to-left shunt

scientific article published on 01 March 2008

Early-onset epilepsy as the main neurological manifestation of cerebrotendinous xanthomatosis

artículo científico publicado en 2012

Early-onset familial Alzheimer's disease related to presenilin 1 mutation resembling autosomal dominant spinocerebellar ataxia

artículo científico publicado en 2013

Evaluation of patients with Clinically Unclear Parkinsonian Syndromes submitted to brain SPECT imaging using the technetium-99m labeled tracer TRODAT-1.

artículo científico publicado en 2010

Excessive fragmentary myoclonus in Machado-Joseph disease.

artículo científico publicado en 2014

Expanding the Phenotype of Dystonia-Deafness Syndrome Caused by ACTB Gene Mutation

scientific article published on 14 November 2019

Eyelid retraction is not a pathognomonic sign of Machado-Joseph disease in the context of spinocerebellar ataxias.

artículo científico publicado en 2014

Facial grimacing as a clue for the diagnosis of GM1 type 3 gangliosidosis

artículo científico publicado en 2011

Familial Behr syndrome-like phenotype with autosomal dominant inheritance

artículo científico publicado en 2008

Familial striatal degeneration: New mutation and neuroimaging clues

scientific article published on 16 October 2015

Fatty acid 2-hydroxylase deficiency: clinical features and brain iron accumulation

artículo científico publicado en 2015

Free carnitine and branched chain amino acids are not good biomarkers in Huntington's disease

scientific article published on 01 February 2020

Frontal lobes white matter abnormalities mimicking cystic leukodystrophy in Wilson's disease

artículo científico publicado en 2017

Gene Expression Profile in Peripheral Blood Cells of Friedreich Ataxia Patients

artículo científico publicado en 2015

Genetic and environmental findings in early-onset Parkinson's disease Brazilian patients

scientific article published on 01 July 2008

Gluten Ataxia: an Overestimated Condition?

artículo científico publicado en 2021

Gradenigo’s Syndrome: Beyond the Classical Triad of Diplopia, Facial Pain and Otorrhea

artículo científico publicado el 15 de febrero de 2011

Heterozygous exon 3 deletion in the Parkin gene in a patient with clinical and radiological MSA-C phenotype

scientific article published on 22 December 2010

Huntington disease and Huntington disease-like in a case series from Brazil

artículo científico publicado en 2013

Hypomelanosis of Ito presenting with adult-onset dementia and marked enlarged Virchow-Robin spaces

artículo científico publicado en 2015

Inherited manganism

artículo científico publicado el 28 de enero de 2013

Inherited manganism: the "cock-walk" gait and typical neuroimaging features

artículo científico publicado en 2014

Is Neuropathy Involved with Restless Legs Syndrome in Machado-Joseph Disease

artículo científico publicado en 2011

Lack of decussation of pyramids in Kallmann syndrome presenting with mirror movements

artículo científico publicado en 2016

Late-Onset Friedreich's Ataxia (LOFA) Mimicking Charcot-Marie-Tooth Disease Type 2: What Is Similar and What Is Different?

artículo científico publicado en 2016

Late-onset hummingbird sign in a woman with fragile X premutation

scientific article published on 20 June 2019

Lentiform "Fork Sign" and Parkinsonism After Acute Myocardial Infarction and Cardiac Failure

scientific article published on 29 March 2017

Levodopa versus non-levodopa brain language fMRI in Parkinson's disease

artículo científico publicado el 1 de abril de 2012

Low signal intensity of motor cortex in SWI sequence: a radiological marker for motor neuron disease?

artículo científico publicado en 2015

MR Imaging Features of Adult-Onset Neuronal Intranuclear Inclusion Disease May Be Indistinguishable from Fragile X-Associated Tremor/Ataxia Syndrome

artículo científico publicado en 2018

Machado-Joseph Disease Progressing to Truncal Dystonia

artículo científico publicado en 2014

Malignant cerebral edema: an unusual neurological manifestation of systemic lupus erythematosus

scientific article published on 07 December 2020

Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome

artículo científico publicado en 2013

Milestones in Friedreich ataxia: more than a century and still learning

artículo científico publicado en 2015

Minimal prevalence of Huntington's disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions

artículo científico publicado en 2019

Morvan syndrome as a paraneoplastic disorder of thymoma with anti-CASPR2 antibodies

artículo científico publicado en 2017

Movement Disorders in Prionopathies: A Systematic Review

artículo científico publicado en 2019

Movement disorders in spinocerebellar ataxias

scientific article published on 24 August 2011

Moving ear syndrome: the role of botulinum toxin

scientific article published on 01 January 2008

Multi-lacunar strokes mimicking atypical parkinsonism with an unusual neuroimaging presentation: état criblé.

artículo científico publicado en 2008

Multimodal neuroimaging analysis in patients with SYNE1 Ataxia

scientific article published on 04 May 2018

Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease.

artículo científico publicado en 2015

Mutations in NPC1 in two Brazilian patients with Niemann-Pick disease type C and progressive supranuclear palsy-like presentation

artículo científico publicado en 2006

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

artículo científico publicado en 2015

NESSCA Validation and Responsiveness of Several Rating Scales in Spinocerebellar Ataxia Type 2.

artículo científico publicado en 2017

NREM-related parasomnias in Machado-Joseph disease: clinical and polysomnographic evaluation.

artículo científico publicado en 2015

Neurogenic T waves as clues for diagnosing hemorrhagic stroke

artículo científico publicado en 2014

Neuroimaging features in congenital trichomegaly: the Oliver-McFarlane syndrome.

artículo científico publicado en 2013

Neuroimaging features of progressive ataxia and palatal tremor

artículo científico publicado en 2015

Neurological contributions from William Osler.

artículo científico publicado en 2013

Neurological manifestations of xeroderma pigmentosum due to XPA gene mutation

artículo científico publicado en 2018

Neurological phenotypes in spinocerebellar ataxia type 2: Role of mitochondrial polymorphism A10398G and other risk factors

artículo científico publicado en 2017

Neurophysiological studies and non-motor symptoms prior to ataxia in a patient with machado-joseph disease: trying to understand the natural history of brain degeneration.

artículo científico publicado en 2014

Neuropsychiatric Lupus in clinical practice.

artículo científico publicado en 2016

Neurosarcoidosis: guidance for the general neurologist.

artículo científico publicado en 2012

Non-motor and Extracerebellar Features in Spinocerebellar Ataxia Type 2.

artículo científico publicado en 2016

Non-progressive cerebellar ataxia and previous undetermined acute cerebellar injury: a mysterious clinical condition

artículo científico publicado en 2015

Nonmotor and extracerebellar features in Machado-Joseph disease: a review.

artículo científico

Nystagmus may be the first neurological sign in early stages of spinocerebellar ataxia type 3

artículo científico publicado en 2021

Olfactory heterogeneity in LRRK2 related Parkinsonism

artículo científico publicado en 2010

One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia.

artículo científico publicado en 2016

Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia

scientific article published on 06 December 2019

PET-CT imaging in a patient with progressive supranuclear palsy.

artículo científico publicado en 2015

PINK1 mutations in a Brazilian cohort of early-onset Parkinson's disease patients

artículo científico publicado en 2009

PINK1 polymorphism IVS1-7 A-->G, exposure to environmental risk factors and anticipation of disease onset in Brazilian patients with early-onset Parkinson's Disease.

artículo científico publicado en 2009

POLR3A-Related Disorder Presenting with Late-Onset Dystonia and Spastic Paraplegia

scientific article published on 18 April 2020

Pattern of Peripheral Nerve Involvement in Spinocerebellar Ataxia Type 2: a Neurophysiological Assessment

artículo científico publicado en 2015

Phelan-McDermid syndrome presenting with autistic spectrum: are we underdiagnosing chromosomal diseases in patients with autism?

artículo científico publicado en 2013

Phenotype variability and early onset ataxia symptoms in spinocerebellar ataxia type 7: comparison and correlation with other spinocerebellar ataxias

artículo científico publicado en 2015

Polysomnography findings in spinocerebellar ataxia type 6.

artículo científico publicado en 2016

Professor Wadia's contributions to neurology and spinocerebellar ataxia type 2.

artículo científico publicado en 2017

Progressive encephalomyelitis with rigidity: a paraneoplastic presentation of oat cell carcinoma of the lung. Case report

artículo científico publicado en 2004

Progressive supranuclear palsy: new concepts.

artículo científico publicado en 2010

Psychosis in Machado-Joseph Disease: Clinical Correlates, Pathophysiological Discussion, and Functional Brain Imaging. Expanding the Cerebellar Cognitive Affective Syndrome.

artículo científico publicado en 2015

Pyramidal tract degeneration in multiple system atrophy: the relevance of magnetization transfer imaging

scientific article published on 01 January 2007

Retinitis pigmentosa in pantothenate kinase-associated neurodegeneration

artículo científico publicado en 2014

Rett syndrome: the Brazilian contribution to the gene discovery

artículo científico publicado en 2019

Reversible Acute Parkinsonism and Unusual Neuroimaging Findings in Systemic Lupus Erythematosus

scientific article published on 07 April 2020

SCA1 patients may present as hereditary spastic paraplegia and must be included in spastic-ataxias group.

artículo científico publicado en 2015

SCA23 and prodynorphin: is it time for gene retraction?

artículo científico publicado en 2016

SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients

artículo científico publicado en 2016

Selective Forces Related to Spinocerebellar Ataxia Type 2

artículo científico publicado en 2019

Severity of restless legs syndrome is inversely correlated with echogenicity of the substantia nigra in different neurodegenerative movement disorders. a preliminary observation

artículo científico publicado en 2012

Should spinocerebellar ataxias be included in the differential diagnosis for Huntington's diseases-like syndromes?

artículo científico

Sjogren-larsson syndrome: case report and review of neurologic abnormalities and ichthyosis.

artículo científico publicado en 2009

Sleep disorders in Machado-Joseph disease.

artículo científico publicado en 2016

Sleep disorders in cerebellar ataxias.

artículo científico publicado en 2011

Sleep disorders in machado-joseph disease: frequency, discriminative thresholds, predictive values, and correlation with ataxia-related motor and non-motor features.

artículo científico publicado en 2011

Spinal Cord Damage in Spinocerebellar Ataxia Type 1.

artículo científico publicado en 2017

Spinal cord atrophy in spinocerebellar ataxia type 1.

artículo científico publicado en 2013

Spinocerebellar ataxia type 6 presenting with parkinsonism, pre-synaptic dopaminergic dysfunction and hyperechogenicity of the substantia nigra

scientific article published on 20 February 2017

Spinocerebellar ataxias in Brazil--frequencies and modulating effects of related genes

artículo científico publicado en 2014

Spontaneous downbeat nystagmus as a clue for the diagnosis of ataxia associated with anti-GAD antibodies.

artículo científico publicado en 2015

Subacute cognitive impairment, hyponatremia and mesial temporal lobe lesions: a typical presentation of voltage-gated potassium channel (VGKC) antibody-associated limbic encephalitis

artículo científico publicado en 2011

Subacute compressive myelopathy secondary to extramedullary hematopoiesis

artículo científico publicado en 2014

Substantia nigra echogenicity and imaging of striatal dopamine transporters in Parkinson's disease: A cross-sectional study

artículo científico publicado en 2014

Substantia nigra echogenicity is correlated with nigrostriatal impairment in Machado-Joseph disease.

artículo científico publicado en 2013

Superior cerebellar hyperintense sign on FLAIR-weighted magnetic resonance imaging in paraneoplastic cerebellar degeneration

artículo científico publicado el 1 de diciembre de 2012

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

artículo científico publicado en 2016

Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man

artículo científico publicado en 2012

Teaching NeuroImages: Clinical and neuroimaging features in Gorlin-Goltz syndrome

artículo científico publicado en 2017

Teaching NeuroImages: Cytomegalovirus infection mimicking a brain tumor in a kidney transplant recipient.

artículo científico publicado en 2016

Teaching NeuroImages: Rosai-Dorfman disease presenting with progressive early-onset cerebellar ataxia

scientific article published on 01 July 2013

Teaching NeuroImages: brucellosis mimicking demyelinating disease

artículo científico publicado en 2011

Teaching Neuroimages: Bereitschaftspotential: A neurophysiological test for functional or voluntary jerks

scientific article published on 14 September 2020

Teaching Video NeuroImages: Hepatic myelopathy: An unusual neurologic complication of hepatic encephalopathy

scientific article published on 01 July 2019

Teaching neuroimages: "mini brain" sign: a radiologic marker for vertebral solitary plasmacytoma

artículo científico publicado en 2014

Teaching neuroimages: a prematurely aging patient presenting with severe leukoaraiosis and stroke.

artículo científico publicado en 2012

Teaching video neuroimages: gelastic cataplexy as the first neurologic manifestation of Niemann-Pick disease type C.

artículo científico publicado en 2012

Tethered cord syndrome resembling Charcot-Marie-Tooth disease in closed spinal dysraphism

scientific article published on 01 February 2014

The cerebellar form of acquired hepatocerebral degeneration: The hepatic ataxia

artículo científico publicado en 2020

The cerebellar histiocytosis: Progressive ataxia is not always a genetic disease

artículo científico publicado en 2018

The cerebellum in Parkinson's disease and Parkinsonism in cerebellar disorders.

artículo científico publicado en 2013

The relationship between Marcel Proust and Joseph Babinski: the encounter of two geniuses.

artículo científico publicado en 2014

The relevance of electroencephalogram as a follow-up test in Hashimoto encephalopathy course after corticosteroids therapy.

artículo científico publicado en 2012

Transcranial sonography findings in spinocerebellar ataxia type 3 (Machado-Joseph disease): a cross-sectional study.

artículo científico publicado en 2011

Transcranial sonography: Brazilian experience.

artículo científico publicado en 2012

Trigeminal ganglia hypoplasia as imaging clue for the diagnosis of Gómez-López-Hernández syndrome

artículo científico publicado en 2020

Trigeminal sensory neuropathy associated with systemic sclerosis: report of three Brazilian cases

artículo científico publicado en 2009

Unusual movement disorders in spinocerebellar ataxias.

artículo científico publicado en 2013

Urbach-Wiethe disease presenting with partial seizures, skin lesions and typical neuroimaging features

artículo científico publicado en 2014

Variable phenotype and severity of sialidosis expressed in two siblings presenting with ataxia and macular cherry-red spots

artículo científico publicado en 2013

Venlafaxine induced-myoclonus in a patient with mixed dementia.

artículo científico publicado en 2008

Vitamin B12 deficiency mimicking neuroimaging features of motor neuron disease

artículo científico publicado en 2014

When should we test patients with familial ataxias for SCA31? A misdiagnosed condition outside Japan?

scientific article published on 21 May 2015

X-Linked Adrenoleukodystrophy Mimicking Hereditary Spastic Paraplegia

scientific article published on 11 November 2019

[Intermediary form of Foix-Chavany-Marie / Worster-Drought syndromes associated to involuntary movements: neuropsychological and phonoaudiological features]

scientific article published on 09 June 2006