Maria Teresa Bassi
IRCCS Eugenio Medea(IT)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Neurological diseases and metabolism, Genetic Neurodegenerative Diseases, Cellular transport and secretion, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → De novo mutations in ATP1A3 cause alternating hemiplegia of childhood(2012)418 cited
- → X-linked situs abnormalities result from mutations in ZIC3(1997)416 cited
- → Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT(1999)332 cited
- → SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance(1999)265 cited
- → Cloning of the Gene Encoding a Novel Integral Membrane Protein, Mucolipidin—and Identification of the Two Major Founder Mutations Causing Mucolipidosis Type IV(2000)252 cited
- → Characterization and Mutation Analysis of Human LEFTY A and LEFTY B, Homologues of Murine Genes Implicated in Left-Right Axis Development(1999)209 cited