Paulo Ribeiro Nóbrega

Universidade Federal do Ceará · CE · 74 publicações em 2022–2026

Metabolism and Genetic DisordersHereditary Neurological DisordersPeripheral Neuropathies and DisordersLysosomal Storage Disorders ResearchGenetic Neurodegenerative Diseases

Principais coautores no Nordeste tamanho = publicações em comum

Pedro Braga‐Neto Pedro Lucas Grangeiro de Sá Barreto Lima André Luiz Santos Pessoa Antônio Edvan Camelo-Filho Pedro Helder de Oliveira Manoel Alves Sobreira-Neto Anderson Rodrigues Brandão de Paiva Daniel Aguiar Dias David Augusto Batista Sá Araújo Mariana Braatz Krueger Rodrigo Fagundes da Rosa Clecio de Oliveira Godeiro-Junior

Publicações recentes

2026 13

Clinical and Genetic Spectrum of ATP1A3 -Related Disorders
Neurociência · Neurology Genetics
Adult Survival in SMA Type 1: A 23‐Year Journey With Home Ventilation and Multidisciplinary Support
Medicina · Clinical Case Reports
Serum Neurofilament Light Levels in Patients with Cerebrotendinous Xanthomatosis: a Pilot Study
Bioquímica, genética e biologia molecular · The Cerebellum
Intermittent Maple Syrup Urine Disease Presenting With Chronic Demyelinating Polyneuropathy: A Genetically Confirmed DBT ‐Related Case
Bioquímica, genética e biologia molecular · Journal of the Peripheral Nervous System
The clinical, radiological and genetic spectrum AARS2-related leukoencephalopathy: a case series of 15 patients and review of the literature
Neurociência · Journal of Neurology
Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis
Neurociência · Muscle & Nerve
Clinical correlates of physical performance and sarcopenia in Parkinson's disease: a cross-sectional study
Medicina · Arquivos de Neuro-Psiquiatria
Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9 -Related Intellectual Disability and Myopathy Syndrome
Bioquímica, genética e biologia molecular · Neurology Genetics
Novel Homozygous Pathogenic Variant in DNAJC6 Causes Rapid Progressive Parkinsonism
Medicina · Movement Disorders Clinical Practice
A Novel TUBB2A Variant Causing Ataxia With Preserved Ambulation Into Adulthood
Bioquímica, genética e biologia molecular · American Journal of Medical Genetics Part A
Multimodal neurophysiological and ultrasound evaluation in Hopkins syndrome: a case report
Medicina · The Egyptian Journal of Neurology Psychiatry and Neurosurgery
iAXON-Brazil-HSP network: building a trial-ready national cohort for hereditary spastic paraplegias in the Global South
Neurociência · The Lancet Regional Health - Americas
Juvenile-onset abdominal dyskinesia related to dopamine receptor blockade with concomitant vitamin B12 deficiency
Medicina · Clinical Neurology and Neurosurgery

2025 14

Efficacy, safety, and tolerability of chenodeoxycholic acid (CDCA) in adult patients with cerebrotendinous xanthomatosis (RESTORE): A randomized withdrawal, double-blind, placebo-controlled, crossover phase-3 study
Bioquímica, genética e biologia molecular · Genetics in Medicine
Assessment of body composition, sarcopenia and protein intake in mild to moderate Parkinson’s disease
Medicina · Frontiers in Nutrition
Autosomal Recessive Ataxias in Northeast Brazil: A Regional Multicenter Case Series
Neurociência · The Cerebellum
Movement Disorders in Neuromyelitis Optica Spectrum Disorder: A Systematic Review
Medicina · Movement Disorders Clinical Practice
Nerve Ultrasound Detects Nerve Atrophy in Patients With Ataxia‐Telangiectasia: A Pilot Study
Medicina · Muscle & Nerve
Expanding the phenotypic and imaging spectrum of GFPT1-related congenital myasthenic syndromes: a Brazilian case series
Medicina · Frontiers in Neurology
Performance of cryptogenic new onset refractory status epilepticus score in a Brazilian cohort after testing for antineuronal antibodies with tissue‐based and cell‐based assays
Medicina · Epilepsia
Cross-Cultural Adaptation of the Patient‐Reported Outcome Measure of Ataxia: the Brazilian Version of PROM-Ataxia
Enfermagem · The Cerebellum
Juvenile Dystonia Associated with Heterozygous Missense Variant in KCNJ10
Medicina · Movement Disorders
Teaching Video NeuroImage: Orthostatic Myoclonus, a Rare Cause of Shaking While Standing
Medicina · Neurology
Fístula rinoliquórica espontânea em centro terciário: uma série de casos
Medicina · Revista de Medicina da UFC
Persistent sleep symptoms in post-COVID syndrome: a Brazilian prospective clinical study
Medicina · Arquivos de Neuro-Psiquiatria
Performance of c-NORSE Score in a Brazilian Cohort After Testing for Antineuronal Antibodies with Tissue-based and Cell-based Assays (P4-9.003)
Medicina · Neurology
Appearance of anti-acetylcholine receptor antibodies after COVID-19
Medicina · Revista de Medicina da UFC

2024 14

Brazilian consensus recommendations on the diagnosis and treatment of autoimmune encephalitis in the adult and pediatric populations
Medicina · Arquivos de Neuro-Psiquiatria
Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil
Bioquímica, genética e biologia molecular · Clinical Genetics
Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11
Medicina · Genetics in Medicine
Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention
Neurociência · Brain Sciences
Spinal cord compression by cystic IgG4-related spinal pachymeningitis mimicking neurocysticercosis: a case report
Medicina · BMC Neurology
Identifying high-risk neurological phenotypes in adult-onset classic monogenic autoinflammatory diseases: when should neurologists consider testing?
Bioquímica, genética e biologia molecular · BMC Neurology
Frequency of anti-MOG antibodies in serum and CSF of patients with possible autoimmune encephalitis: Results from a Brazilian multicentric study
Medicina · Multiple Sclerosis and Related Disorders
Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report
Medicina · BMC Neurology
Peculiar aetiology for orbital apex syndrome: Wyburn-Mason syndrome as orbital apex lesion
Medicina · BMJ Neurology Open
Response letter to: a homozygous p.Val120Leu (c.358G > C) SOD1 mutation led to slowly progressive amyotrophic lateral sclerosis in a Brazilian family
Medicina · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Multiple Mononeuropathy following Crotalid Envenomation: A case report
Farmacologia e toxicologia · Revista da Sociedade Brasileira de Medicina Tropical
Teaching Video NeuroImage: Remarkable Improvement of AGRN -Associated Congenital Myasthenia Weakness After Salbutamol Use
Medicina · Neurology
Evaluation of chenodeoxycholic acid treatment in adult patients with cerebrotendinous xanthomatosis: A randomized, placebo-controlled Phase 3 study (RESTORE)
Bioquímica, genética e biologia molecular · Molecular Genetics and Metabolism
Editorial for Brain Sciences Special Issue: “Neurogenetic Disorders across Human Life: From Infancy to Adulthood”
Bioquímica, genética e biologia molecular · Brain Sciences

2023 9

Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review
Bioquímica, genética e biologia molecular · Brain Sciences
Brazilian autoimmune encephalitis network (BrAIN): antibody profile and clinical characteristics from a multicenter study
Medicina · Frontiers in Immunology
Supratentorial Lymphocytic Inflammation with Parenchymal Perivascular Enhancement Responsive to Steroids (SLIPPERS)—Does it Really Exist?
Medicina · Brain Sciences
Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia
Neurociência · Brain Communications
A case of mitochondrial DNA depletion syndrome type 11 – expanding the genotype and phenotype
Bioquímica, genética e biologia molecular · Neuromuscular Disorders
Spinocerebellar ataxia type 2 has multiple ancestral origins
Neurociência · Parkinsonism & Related Disorders
Controversies in immunotherapy for anti-NMDA receptor encephalitis: a scoping review with a proposal of operational definitions
Medicina · Neurological Sciences
Higher Prevalence of Nonsense Pathogenic DMD Variants in a Single-Center Cohort from Brazil: A Genetic Profile Study That May Guide the Choice of Disease-Modifying Treatments
Bioquímica, genética e biologia molecular · Brain Sciences
Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings
Medicina · Journal of Neurology Neurosurgery & Psychiatry

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