J. Pedroso

Chorea-acanthocytosis with homozygous variant of VPS13A gene concomitant with intermediate expansion of JPH3 gene: Who is the villain?
20260 citationsauthor #7
Two pathogenetic intronic variants in SPG4/SPAST and expansion of the clinical presentation.
20260 citationsauthor #11
Epidemiological, clinical, and radiological assessment of hypertrophic pachymeningitis in a tertiary neurology center in Brazil
20250 citationsauthor #6
A journey through the anatomy of the cerebellum
20250 citationsauthor #11
When livedo reticularis is the key: ADA2 defiency
20250 citationsauthor #8
Distinct patterns of cerebral and spinal pathology along the spectrum of ATXN2-related disorders
20252 citationsauthor #5
A 10-year Brazilian series of antibody-positive autoimmune encephalitis
20250 citationsauthor #5
The cerebellum and psychiatric disorders: unraveling its role in mental health
20251 citationsauthor #6
Pendular Nystagmus: a Novel Feature of ANO10-Related Disorders
20250 citationsauthor #13
A journey through genetic movement disorders caused by non-coding repeat expansions.
20251 citationsauthor #8
Calmodulin-binding transcription activator 1 mutation presenting as dystonia-ataxia syndrome
20250 citationsauthor #8
Retinal degeneration in spinocerebellar ataxia type 7: an overview of the current knowledge.
20250 citationsauthor #4
Cerebellar and extra-cerebellar symptoms in movement disorders
20250 citationsauthor #5
The most illustrative case: multiple high-risk phenotypes for paraneoplastic syndrome in a positive anti-Hu patient with pancreatic neoplasm
20250 citationsauthor #6
The impact of interrupted ATXN10 expansions on clinical findings of spinocerebellar ataxia type 10
20255 citationsauthor #7
Drinking Tremor.
20250 citationsauthor #5
Crab Walk‐Like Gait in CSF1R‐Related Leukoencephalopathy
20250 citationsauthor #4
Clinical characterization, natural history, and neuroimaging of cerebellar ataxia after abdominal surgery
20250 citationsauthor #5
Longitudinal Evaluation of Ataxia and Brain Structural Changes in RFC1 ‐Related Disorder
20250 citationsauthor #11
Neuroichthyosis: the interplay between brain and skin
20250 citationsauthor #5
Langerhans cell histiocytosis presenting with pachymeningitis and epilepsy: a case report
20250 citationsauthor #10
Respiratory Function in Friedreich's Ataxia.
20250 citationsauthor #5
Chronic Levamisole-Induced Leukoencephalopathy: Uncommon Presentation of Two Cases with Adult-Onset Progressive Symptoms
20250 citationsauthor #6
Unravelling the Global Tapestry of Genetic Ataxias: Epidemiology and Genetic Testing Approaches
20252 citationsauthor #4
EAST syndrome: when the nephrologist calls the neurologist
20250 citationsauthor #8
Anti-Hu and anti-CV2/CRMP5 antibodies overlapping in paraneoplastic encephalitis: the more, the worse
20250 citationsauthor #5
Neuroimaging in Cerebellar Ataxias: A Diagnostic Approach
20251 citationsauthor #10
Challenges in attributing neuropsychiatric symptoms in SLE: validation of attribution models in a Brazilian cohort
20250 citationsauthor #4
From brain to spine: drop metastasis from high-grade glioma
20250 citationsauthor #7
Sunken eyes as a peculiar finding in neuronal ceroid lipofuscinoses
20250 citationsauthor #6
Epidemiological, Clinical, and Radiological Assessment of Hypertrophic Pachymeningitis in a Tertiary Neurology Center in Brazil (P6-8.017)
20250 citationsauthor #3
Microstructural Brain White Matter Changes and Clinical Correlates in SPG3A.
20250 citationsauthor #4
Teaching Video NeuroImage: Minipolymyoclonus: A Clinical Clue to Spinal Muscular Atrophy.
20250 citationsauthor #4
Tremulous SCA3: The Complex Connection between the Cerebellum and Basal Ganglia
20251 citationsauthor #4
Natural History of Gerstmann-Sträussler-Scheinker Syndrome in a Brazilian Cohort (P8-5.014)
20250 citationsauthor #3
Ziclague® (Alpinia Zerumbet oil) in patients with hereditary spastic paraplegia - the randomized controlled ZISPAST trial
20250 citationsauthor #8
Demystifying the Etiology of ILOCA in the Genomic Era: A Narrative Review
20250 citationsauthor #3
Unmasking an inflammatory disorder: clues from the orbit and dura
20250 citationsauthor #6
Extension of the Clinical and Genetic Spectrum in SPG4 Discloses a New Form of Alzheimer's Disease
20250 citationsauthor #13
Respiratory Evaluation in Spinocerebellar ataxia Type 2
20252 citationsauthor #4
Thanks to the Editorial Board of Arquivos de Neuro-Psiquiatria (2024)
20250 citationsauthor #36
Molecular Analysis through Whole Exome Sequencing in Ataxia Telangiectasia Patients: Beyond ATM
20250 citationsauthor #9
Hypothalamic atrophy in CANVAS/RFC1
20252 citationsauthor #9
Involuntary Eye Movements as a Clue to Diagnosis
20250 citationsauthor #5
Hereditary Truncal Dystonia Associated with ANO3 Gene Variant
20240 citationsauthor #6
Functional ataxia in a specialized ataxia center.
20240 citationsauthor #6
Teaching Video NeuroImage: TWNK Mutation Causes Chronic Progressive External Ophthalmoplegia and Cerebellar Ataxia: A POLG-Like Phenotype.
20240 citationsauthor #3
Sequential optic neuritis secondary to aspergillosis mimicking Foster Kennedy syndrome: a case report
20240 citationsauthor #10
Two-year longitudinal evaluation of brain structural changes and ataxia severity in RFC1-related disorder
20240 citationsauthor #7
NDUFAF5 variants cause early onset Leigh syndrome.
20241 citationsauthor #9
Visual allesthesia as manifestation of migraine aura
20240 citationsauthor #2
Complex movement disorders associated with DEAF1 gene mutation.
20240 citationsauthor #5
Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study
20248 citationsauthor #23
The neuroscience of music perception: a narrative review
20240 citationsauthor #4
Teaching Video Neuroimage: Speech-Induced Mouth Dystonia in SCA2.
20240 citationsauthor #4
Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11.
20245 citationsauthor #21
Sunken eyes as a peculiar finding in neuronal ceroid lipofuscionoses
20240 citationsauthor #5
FARS‐ADL across Ataxias: Construct Validity, Sensitivity to Change, and Minimal Important Change
202417 citationsauthor #9
A decade of whole-exome sequencing in Brazilian Neurology: from past insights to future perspectives
20240 citationsauthor #9
Acute spinal cord compression due to extramedullary hematopoiesis
20240 citationsauthor #9
Hypothalamic atrophy and textural changes in polyglutamine ataxias
20240 citationsauthor #6
Subacute hemichorea and asymmetrical basal ganglia abnormalities: An archetypal scenario for anti-CV2 encephalitis.
20240 citationsauthor #6
ATP1A3 related disorders: a case series
20240 citationsauthor #10
Tract-specific spinal damage in SCA2, SCA3 and SCA6
20243 citationsauthor #7
Acute spinal cord compression due to extramedullary haematopoiesis
20241 citationsauthor #5
ADEM-like presentation in an immunocompetent host after disseminated tuberculosis: TB or not TB?
20240 citationsauthor #10
Levamisole-induced leukoencephalopathy
20240 citationsauthor #9
The GENESIS database and tools: A decade of discovery in Mendelian genomics.
20243 citationsauthor #26
Screening for SCA27B in a cohort of Brazilian patients with unsolved ataxias
20240 citationsauthor #4
Langerhans cell histiocytosis presenting with pachymeningitis and epilepsy: a case report
20240 citationsauthor #10
Non-motor and extracerebellar features in spinocerebellar ataxia type 6
20240 citationsauthor #4
Assessment of respiratory function in Friedreich’s ataxia
20240 citationsauthor #5
Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia
20245 citationsauthor #9
Clinical, neuroimaging and genetic findings in Brazilian patients with neurodegeneration with brain iron accumulation.
20241 citationsauthor #9
Ataxias in Brazil: 17 years of experience in an ataxia center
20247 citationsauthor #5
Cognitive assessment in patients with spinocerebellar ataxia type 6
20240 citationsauthor #2
An under-recognized case of mioclonic epilepsy: NUS1
20240 citationsauthor #10
Prevalence and Diagnostic Journey of Friedreich’s Ataxia in the State of São Paulo, Brazil
20249 citationsauthor #3
Quantifying ataxia in RFC1-related disorder using wearable sensor technology
20240 citationsauthor #8
Diagnostic yield of autosomal dominant cerebellar ataxia by whole exome sequencing in an undetermined ataxia cohort
20240 citationsauthor #5
Multiple cerebral cavernomas in linear scleroderma: an unusual association
20240 citationsauthor #7
A diagnostic approach to neurocutaneous syndromes
20240 citationsauthor #6
Unraveling the genetic complexity of hereditary spastic paraplegias in a large Brazilian multicenter cohort
20240 citationsauthor #19
Hereditary motor and sensory neuropathy Okinawa type mimicking proximal myopathy.
20241 citationsauthor #8
Natural History of Dystonia in SYNE1 Ataxia: A Clinical, Imaging and Neurophysiological Observation
20242 citationsauthor #9
Complex movement disorders in early onset hypoparathyroidism
20240 citationsauthor #6
Challenges in the immunocompromised patient: a case of ureaplasma meningoencephalitis
20240 citationsauthor #9
Longitudinal extensive myelopathy (LEM): a case with investigation pitfalls
20230 citationsauthor #7
Immune-mediated ataxias: Guide to clinicians.
20237 citationsauthor #8
Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia
202327 citationsauthor #10
Diffuse leptomeningeal enhancement in neurosarcoidosis-related longitudinally extensive myelitis
20231 citationsauthor #3
Rare diagnosis of dystonia and ataxia: aceruloplasminemia
20230 citationsauthor #10
Ataxia unit of the Federal University of São Paulo: 16 years of experience and a description of frequency and etiology
20230 citationsauthor #5
Paroxysmal Tonic Upward Gaze: A Clinical Clue for CACNA1A‐Related Disorders
20232 citationsauthor #4
Erdheim Chester: an atypical presentation
20230 citationsauthor #9
Nigrostriatal dysfunction in RFC1-related disorder/CANVAS.
20239 citationsauthor #6
Optic Disc and Retinal Architecture Changes in Patients with Spinocerebellar Ataxia Type 2
20233 citationsauthor #10
Cranial Nerve Thinning Distinguishes RFC1‐Related Disorder from Other Late‐Onset Ataxias
20231 citationsauthor #11
Spinocerebellar Ataxia Type 6 and Japanese Immigration to Brazil
20230 citationsauthor #3
Hypertrophic pachymeningitis associated with systemic lupus erythematosus: a case report
20230 citationsauthor #4

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