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Publications by Patrícia Maciel

Novel Candidate Blood-Based Transcriptional Biomarkers of Machado-Joseph Disease

Movement Disorders

English

Identification of Novel Genetic Causes of Rett Syndrome-Likephenotypes

Journal of Medical Genetics

English

The Contribution of 7q33 Copy Number Variations for Intellectual Disability

Molecular Neuroscience

English

Lithium Chloride Therapy Fails to Improve Motor Function in a Transgenic Mouse Model of Machado-Joseph Disease

English

Towards a Structural Understanding of the Fibrillization Pathway in Machado-Joseph's Disease: Trapping Early Oligomers of Non-Expanded Ataxin-3

Journal of Molecular Biology

Structural Biology

Molecular Biology

English

An Explanation for Another Familial Case of Rett Syndrome: Maternal Germline Mosaicism

European Journal of Human Genetics

English