A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree
Miguel Mitne‐Neto(Hospital Santa Paula), Mayana Zatz(Universidade de São Paulo), Zódja Graciani(Universidade de São Paulo), Marcília Lima Martyn(Universidade de São Paulo), Marcos Valadares(Stem Cell Institute), Carlos Bandeira de Mello Monteiro(Universidade de São Paulo), Fernando Kok(Universidade de São Paulo), Anders O.H. Nygren(Asana Biosciences (United States)), André Luiz Santos Pessoa(Universidade Estadual do Ceará), Guilherme Mitne(Universidade de São Paulo), Christian Beetz(Jena University Hospital), Paulo Hubert(Universidade de São Paulo), Alessandra Starling(Universidade de São Paulo), Thomas Deufel(Friedrich Schiller University Jena), Antonia Cerqueira(Universidade de São Paulo), Clarissa Bueno(Universidade de São Paulo)
Cited by 32
Related Papers
A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis
|The American Journal of Human Genetics|2004|990
Quantitative comparison of DNA methylation assays for biomarker development and clinical applications
|Nature Biotechnology|2016|347
Selective induction of chemotherapy resistance of mammary tumors in a conditional mouse model for hereditary breast cancer
|Proceedings of the National Academy of Sciences|2007|304
Rare variants in <i>SOS2</i> and <i>LZTR1</i> are associated with Noonan syndrome
|Journal of Medical Genetics|2015|245