Bruno de Mattos Lombardi Badia

Universidade Federal de São Paulo — Brazil

Neuroscience · Life Sciences

9h-index279citations62works1.32yr avg
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Research Topics

Neurological diseases and metabolism(11), Hereditary Neurological Disorders(10), Neurogenetic and Muscular Disorders Research(10), Genetic Neurodegenerative Diseases(8), Porphyrin Metabolism and Disorders(8)

Publications62 total

Acute Hepatic Porphyria Should Be Included in the Diagnostic Work-Up of Patients with Resistant Hypertension or Suspected Secondary Hypertension
Medical Sciences·2025Open Access
Practical Recommendations in the Treatment of Acute and Chronic Life-Threatening Infectious Diseases in Patients with Acute Hepatic Porphyria
Metabolites·2025· 1 citedOpen Access
83P Should we include HACD1 variants in the differential diagnosis of slowly progressive adult-onset limb-girdle weakness?
Neuromuscular Disorders·2024
579P Myopathies associated with the FHL1 gene: a case series
Neuromuscular Disorders·2024
Neurofilament light chain as a biomarker for acute hepatic porphyrias
Frontiers in Neurology·2024· 2 citedOpen Access
Clinical and Genetic Aspects of Juvenile Amyotrophic Lateral Sclerosis: A Promising Era Emerges
Genes·2024· 6 citedOpen Access
Segmental areas of denervation in post-polio syndrome
Arquivos de Neuro-Psiquiatria·2024· 1 citedOpen Access
PNPT1 Spectrum Disorders: An Underrecognized and Complex Group of Neurometabolic Disorders
Muscles·2024Open Access
ADCY5-related dyskinesia: a treatable inherited neurometabolic disorder
Revista Neurociências·2023Open Access
COQ7-Related Juvenile-Onset Motor Neuronopathy: A New Pathogenetic Dysfunction Associated with Motor Neuron Disease
Sclerosis·2023Open Access
Brazilian registry of patients with porphyria: REBRAPPO study
Orphanet Journal of Rare Diseases·2023· 8 citedOpen Access
Finnish Type Amyloidosis
2023
Myasthenia gravis in the complex scenario of LRBA-related immune dysregulation
Arquivos de Asmas Alergia e Imunologia·2023Open Access
Typical demyelinating syndromes in atypical patients: case report of two intriguing cases
2023
Case report: myofasciitis associated with the NFkB gene
2023Open Access
Case report: motor neurone symptoms as initial clinical manifestation in a patient with Creutzfeldt-Jakob disease
2023Open Access
Familial Isolated Vitamin E Deficiency
2023· 2 cited
Case report: an atypical case of post-poliomyelitis syndrome and its radiological correlations
2023Open Access
Juvenile-onset amyotrophic lateral sclerosis due to homozygous COQ7 variants
2023Open Access
Expanding the spectrum of TBK1-related disorders: Adult-onset non-5q spinal muscular atrophy
Revue Neurologique·2022· 1 cited
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Frequent Co-authors

Paulo Victor Sgobbi de Souza(47), Wladimir Bocca Vieira de Rezende Pinto(47), Acary Souza Bullé Oliveira(45), Igor Braga Farias(43), Roberta Ismael Lacerda Machado(18), Paulo de Lima Serrano(14), José Marcos Vieira de Albuquerque Filho(11), Eduardo Augusto Gonçalves(8), Marco Antônio Troccoli Chieia(8), Luiz Henrique Libardi Silva(8), Daniel Delgado Seneor(6), Hélvia Bertoldo de Oliveira(5), Mario Teruo Yanagiura(4), Icaro França Navarro Pinto(4), Gustavo Carvalho Costa(4), Carolina Maria Marin(4), Alana Strucker Barbosa(4), Camila Alves Pereira(4), Vanessa de Freitas Moreira(4), Vinícius Lopes Braga(4)