Patrı́cia Maciel
University of Minho(PT)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Genetics and Neurodevelopmental Disorders, Parkinson's Disease Mechanisms and Treatments, Autism Spectrum Disorder Research
Most-Cited Works
- → Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism(2020)2,371 cited
- → Rare coding variation provides insight into the genetic architecture and phenotypic context of autism(2022)580 cited
- Correlation between CAG repeat length and clinical features in Machado-Joseph disease.(1995)
- → Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients(2013)218 cited
- → Identification of novel genetic causes of Rett syndrome-like phenotypes(2016)189 cited
- → Improvement in the Molecular Diagnosis of Machado-Joseph Disease(2001)141 cited
- → Ancestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study(2001)134 cited