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List of works by Orlando G. Barsottini

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

scientific article

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

scientific article published on 23 December 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.

scientific article

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

scientific article published on 09 January 2016

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

scientific article published on 10 November 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

scientific article published on 14 April 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

scientific article published in September 2012

Adult onset Alexander disease presenting with progressive spastic paraplegia.

scientific article

Adult onset sporadic ataxias: a diagnostic challenge.

scientific article published on March 2014

Akathisia: An unusual movement disorder in Machado-Joseph disease

scientific article published on 24 June 2011

Alpha-fetoprotein as a biomarker for recessive ataxias

scientific article published on 01 December 2010

Aniridia as a clue for the diagnosis of Gillespie syndrome

scientific article published on 01 June 2020

Anterior horn degeneration in Machado-Joseph disease.

scientific article published on 15 July 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

scientific article published on 01 May 2015

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

scientific article published on 15 December 2011

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

scientific article

Brain atrophy after cortical hyperintensities in systemic lupus erythematosus

scientific article published on 6 October 2015

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

scientific article published on 01 January 2014

Case 241.

scientific article published in January 2017

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

scientific article

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

scientific article published on 10 January 2017

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

scientific article published on 01 December 2011

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

scientific article published on 06 September 2015

Characterisation of ataxia in Sjogren's syndrome

scientific article published on 03 February 2020

Clinical and epidemiological profiles of non-traumatic myelopathies.

scientific article published on February 2016

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

scientific article published in March 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.

scientific article published on 8 January 2015

Cognitive and Psychiatric Evaluation in SYNE1 Ataxia

scientific article published on 01 August 2019

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

scientific article published on 8 May 2012

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

scientific article published in December 2012

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

scientific article published on 11 December 2013

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

scientific article

Correction to: Selective Forces Related to Spinocerebellar Ataxia Type 2

scientific article published on 01 April 2019

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

scientific article published on 01 March 2014

Current concepts in the treatment of hereditary ataxias

scientific article published on March 2016

Delirium, psychosis, and visual hallucinations induced by pregabalin

scientific article published on 01 December 2012

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

scientific article published on 21 April 2017

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

scientific article published in February 2007

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

scientific article published on March 13, 2013

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 30 May 2012

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

scientific article published on 13 March 2013

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

scientific article published on 22 January 2010

Excessive fragmentary myoclonus in Machado-Joseph disease.

scientific article published on 18 January 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.

scientific article

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

scientific article published on 01 January 2011

Familial Behr syndrome-like phenotype with autosomal dominant inheritance

scientific article

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

scientific article

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

scientific article published on 01 April 2017

Gene Expression Profile in Peripheral Blood Cells of Friedreich Ataxia Patients

scientific article published on 15 July 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?

scientific article published in 2021

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

scientific article published on February 15, 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

scientific article published on 17 October 2013

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

scientific article

Inherited manganism ⬇️

scientific article published on January 28, 2013

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

scientific article published on 04 April 2014

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

scientific article published on 20 September 2011

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

scientific article published on 23 November 2016

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

scientific article published on 29 September 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 ⬇️

scientific article published on April 1, 2012

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

scientific article

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

scientific article published on 02 August 2018

Machado-Joseph Disease Progressing to Truncal Dystonia

scientific article published on 22 August 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

scientific article published in January 2013

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

scientific article published on 08 February 2015

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

scientific article published in April 2019

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

scientific article

Movement Disorders in Prionopathies: A Systematic Review

scientific article published on 12 December 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.

scientific article

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.

scientific article published on 22 October 2015

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

scientific article published on 01 December 2006

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

scientific article

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

scientific article

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

scientific article published on 3 September 2015

Neurogenic T waves as clues for diagnosing hemorrhagic stroke

scientific article published on 01 June 2014

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

scientific article published on 26 April 2013

Neuroimaging features of progressive ataxia and palatal tremor

scientific article published in July 2015

Neurological contributions from William Osler.

scientific article published in April 2013

Neurological manifestations of xeroderma pigmentosum due to XPA gene mutation

scientific article published on 04 August 2018

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

scientific article

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.

scientific article published in August 2014

Neuropsychiatric Lupus in clinical practice.

scientific article published in December 2016

Neurosarcoidosis: guidance for the general neurologist.

scientific article

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

scientific article published on 29 January 2016

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

scientific article published on 18 August 2015

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

scientific article published on 17 June 2013

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

scientific article published in 2021

Olfactory heterogeneity in LRRK2 related Parkinsonism.

scientific article

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.

scientific article

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.

scientific article

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

scientific article published in August 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.

scientific article published on 26 November 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

scientific article

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

scientific article published on 29 September 2013

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

scientific article published on 01 January 2015

Polysomnography findings in spinocerebellar ataxia type 6.

scientific article

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

scientific article published on April 2017

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

scientific article published on 01 June 2004

Progressive supranuclear palsy: new concepts.

scientific article

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

scientific article published on 23 August 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.

scientific article published in October 2014

Rett syndrome: the Brazilian contribution to the gene discovery

scientific article published on 01 December 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.

scientific article published on 22 July 2015

SCA23 and prodynorphin: is it time for gene retraction?

scientific article

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

scientific article

Selective Forces Related to Spinocerebellar Ataxia Type 2

scientific article published on 01 April 2019

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

scientific article published on 24 May 2012

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

scientific article published on 08 October 2014

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

scientific article

Sleep disorders in Machado-Joseph disease.

scientific article

Sleep disorders in cerebellar ataxias.

scientific article published on April 2011

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

scientific article published in June 2011

Spinal Cord Damage in Spinocerebellar Ataxia Type 1.

scientific article published on 6 April 2017

Spinal cord atrophy in spinocerebellar ataxia type 1.

scientific article published in December 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

scientific article published in February 2014

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

scientific article published on 20 October 2015

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

scientific article published in December 2011

Subacute compressive myelopathy secondary to extramedullary hematopoiesis

scientific article published on 01 September 2014

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

scientific article published on 06 February 2014

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

scientific article published on 13 May 2013

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

scientific article published on December 1, 2012

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

scientific article published on August 2016

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

scientific article

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

scientific article published on 01 February 2017

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

scientific article

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

scientific article published on 01 March 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

scientific article published in June 2014

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

scientific article published in May 2012

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

scientific article published in November 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

scientific article published on 22 February 2020

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

scientific article published on 18 July 2018

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

scientific article published on 4 June 2013

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

scientific article

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

scientific article published on 5 June 2012

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

scientific article

Transcranial sonography: Brazilian experience.

scientific article published in April 2012

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

scientific article published on 09 November 2020

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

scientific article published on 01 June 2009

Unusual movement disorders in spinocerebellar ataxias.

scientific article published on 30 May 2013

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

scientific article

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

scientific article published on 16 July 2013

Venlafaxine induced-myoclonus in a patient with mixed dementia.

scientific article

Vitamin B12 deficiency mimicking neuroimaging features of motor neuron disease

scientific article published on 01 January 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

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