Patrı́cia Maciel

Correlation between CAG repeat length and clinical features in Machado-Joseph disease.

Patrı́cia Maciel, Cláudia Gaspar, Anita L. DeStefano et al. · PubMed · 1995 · 320 citations

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout et al. · Human Mutation · 2013 · 214 citations

Genetics, Genetic Epidemiology, Pathology +20

Identification of novel genetic causes of Rett syndrome-<i>like</i> phenotypes

Fátima Lopes, Mafalda Barbosa, Adam Ameur et al. · Journal of Medical Genetics · 2016 · 187 citations · Full text

Improvement in the Molecular Diagnosis of Machado-Joseph Disease

Patrı́cia Maciel · Archives of Neurology · 2001 · 139 citations

Ancestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study

Cláudia Gaspar, Íscia Lopes‐Cendes, Sean M. Hayes et al. · The American Journal of Human Genetics · 2001 · 134 citations · Full text

Ancestral Origins, Genetic Disorder, Genetics +8