Search filters

List of works by José Luiz Pedroso

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

scientific article

A Novel de novo Exon 21 DNMT1 Mutation Causes Cerebellar Ataxia, Deafness, and Narcolepsy in a Brazilian Patient ⬇️

scientific article published on August 1, 2013

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

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 foot drop syndrome mimicking peroneal nerve injury: an atypical presentation of ischemic stroke

scientific article published on 6 October 2013

Acute ischemic stroke resembling Saturday night palsy.

scientific article

Adult onset Alexander disease presenting with progressive spastic paraplegia.

scientific article

Adult onset sporadic ataxias: a diagnostic challenge.

scientific article published on March 2014

An Unusual Fundus Finding in a Teenage Girl

scientific article published on 01 December 2018

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

Are Gait Stereotypies a Marker for Neurodegeneration in Down Syndrome? A Prospective Observation

scientific article published on 13 September 2016

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

scientific article published on 10 December 2018

Autoimmune encephalitis: a review of diagnosis and treatment.

scientific article published in January 2018

Autonomic dysfunction in hereditary spastic paraplegia type 4

scientific article published on 10 January 2019

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

scientific article published on 01 January 2014

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

Cerebellar degeneration and progressive ataxia associated with HIV-virus infection

scientific article published on 5 April 2018

Clinical and epidemiological profiles of non-traumatic myelopathies.

scientific article published on February 2016

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

Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS

scientific article published on 23 December 2018

Clonic Perseveration after Acute Ischemic Stroke: An Insight into the Pathophysiological Mechanisms.

scientific article published on 18 May 2016

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 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

Congenital ataxia due to cerebellar malformation presenting with unilateral hypoplasia.

scientific article

Correction to: Selective Forces Related to Spinocerebellar Ataxia Type 2

scientific article published on 01 April 2019

Cross-cultural adaptation and validation of the International Cooperative Ataxia Rating Scale (ICARS) to Brazilian Portuguese

scientific article published on 01 October 2018

Current concepts in the treatment of hereditary ataxias

scientific article published on March 2016

Dengue virus infection presenting with diffuse brain hemorrhage

scientific article published on October 2014

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

scientific article published on 21 April 2017

Diagnosis at a first glance? "Bulging eyes" as a clue for a more accurate diagnosis in spinocerebellar ataxias ⬇️

scientific article published on July 1, 2013

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

scientific article

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

scientific article published on 13 March 2013

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 and clinical correlates in spinocerebellar ataxia type 3

scientific article published on 02 January 2019

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

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

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

scientific article published on 17 October 2013

Hyperintense signal in pyramidal tract neurons in postoperative brain tumor: wallerian degeneration or neoplastic dissemination?

scientific article published in November 2013

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

scientific article

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

scientific article published on 04 April 2014

LMNB1 mutation causes cerebellar involvement and a genome instability defect.

scientific article

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 Psychogenic Chronic Phonic-Tics

scientific article published on 02 June 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

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

Metabolic studies of a patient harbouring a novel S487L mutation in the catalytic subunit of AMPK.

scientific article published on 8 March 2018

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 Metabolic Disorders

scientific article published on 09 February 2019

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 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

Neonatal SCA2 Presenting With Choreic Movements and Dystonia With Dystonic Jerks, Retinitis, Seizures, and Hypotonia

scientific article published on 11 June 2014

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

Neuroimaging in Hereditary Spastic Paraplegias: Current Use and Future Perspectives

scientific article published on 01 January 2018

Neurological complications of solid organ transplantation

scientific article published in October 2017

Neurological contributions from William Osler.

scientific article published in April 2013

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

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

scientific article published on 29 January 2016

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

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

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

scientific article

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

scientific article

Perioral and tongue fasciculations in Kennedy's disease

scientific article published on 4 November 2017

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

Pontine calcification in late stage cerebellar multiple system atrophy: a marker of synucleinopathy neurodegeneration?

scientific article published on 01 November 2017

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

scientific article published on April 2017

Progressive Myoclonic Epilepsy Type 8 Due to CERS1 Deficiency: A Novel Mutation with Prominent Ataxia

scientific article published on 30 March 2018

Rapid Eye Movement Sleep Behavior Disorder in Paraneoplastic Cerebellar Degeneration: Improvement with Immunotherapy

scientific article

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

SCA23 and prodynorphin: is it time for gene retraction?

scientific article

SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage.

scientific article

SPG11-related parkinsonism: Clinical profile, molecular imaging and l-dopa response

scientific article published on 10 October 2018

SPG7 with parkinsonism responsive to levodopa and dopaminergic deficit

scientific article published on 11 December 2017

Selective Forces Related to Spinocerebellar Ataxia Type 2

scientific article published on 01 April 2019

Septo-optic dysplasia with late-onset seizure: MRI and ophthalmological features

scientific article published on 01 May 2019

Simultaneous mixed phenotype and neuroimaging of progressive supranuclear palsy, progressive ataxia and palatal tremor: two different faces of tauopathies

scientific article published in 2022

Sleep Disorders in Hereditary Ataxias

scientific article published on 25 July 2019

Sleep apnea in Machado-Joseph disease: a clinical and polysomnographic evaluation

scientific article published on 25 April 2018

Sleep disorders in Machado-Joseph disease.

scientific article

Sneddon's syndrome: case report and review of its relationship with antiphospholipid syndrome.

scientific article published on April 2012

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 10: common haplotype and disease progression rate in Peru and Brazil.

scientific article published on 31 May 2017

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

scientific article published on 20 February 2017

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

scientific article published on 20 October 2015

Structural signature in SCA1: clinical correlates, determinants and natural history

scientific article published on 15 October 2018

Structural signature of SCA3: From presymptomatic to late disease stages

scientific article published on 04 September 2018

Structural signature of classical versus late-onset friedreich's ataxia by Multimodality brain MRI.

scientific article

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

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: Spinocerebellar ataxia type 3 presenting with a cock-walk gait phenotype.

scientific article published on 9 October 2017

Teaching NeuroImages: The Charcot shoulder: Chiari malformation with syringomyelia associated with arthropathy

scientific article published on 01 July 2017

Teaching NeuroImages: Typical neuroimaging features in high-altitude cerebral edema.

scientific article

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

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

scientific article published on 01 February 2014

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 progression rate of spinocerebellar ataxia type 2 changes with stage of disease

scientific article

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

scientific article

Tic Disorder: An Unusual Presentation of Neurotoxoplasmosis in a Patient with AIDS ⬇️

scientific article published on November 15, 2010

Tractography study in a patient with hemidystonia-hemiatrophy syndrome

scientific article published on 18 January 2018

Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1

scientific article published on 01 August 2018

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

Video NeuroImages: Head titubation in anti-mGluR1 autoantibody-associated cerebellitis

scientific article published on 01 April 2018

Vitamin B12 deficiency mimicking neuroimaging features of motor neuron disease

scientific article published on 01 January 2014

X-Linked Adrenoleukodystrophy Mimicking Hereditary Spastic Paraplegia

scientific article published on 11 November 2019

Paulina is supported by:

About Paulina

Help