Luciana C. Bonadia
Campinas, SP 13083887, Brazil
Last Updated: 09/26/2026
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Found 23 publications
SCA27B in Brazil: frequency, phenotype and genotype-phenotype correlations.
Journal: Journal of neurology
Published: February 22, 2026
22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.
Journal: Genes
Published: March 22, 2024
Predictors of genetic diagnosis in individuals with developmental and epileptic encephalopathies.
Journal: Epilepsy & behavior : E&B
Published: August 02, 2023
RFC1-Related Disorder: In Vivo Evaluation of Spinal Cord Damage.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: April 04, 2022
DRPLA: An unusual disease or an underestimated cause of ataxia in Brazil?
Journal: Parkinsonism & related disorders
Published: August 01, 2021
Brain Structural Signature of RFC1-Related Disorder.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: April 26, 2021
Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective.
Journal: Cerebellum (London, England)
Published: April 07, 2021
Slowly progressive behavioral frontotemporal dementia syndrome in a family co-segregating the C9orf72 expansion and a Synaptophysin mutation.
Journal: Alzheimer's & dementia : the journal of the Alzheimer's Association
Published: October 16, 2020
Dopa-Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 24, 2020
CAG repeats ≥ 34 in Ataxin-1 gene are associated with amyotrophic lateral sclerosis in a Brazilian cohort.
Journal: Journal of the neurological sciences
Published: December 02, 2019
Frequency and Genetic Profile of Compound Heterozygous Friedreich's Ataxia Patients-the Brazilian Experience.
Journal: Cerebellum (London, England)
Published: June 28, 2019
Last Updated: 09/26/2026