Maria Teresa Dotti
University of Siena(IT)
Publications by Year
Research Areas
Cerebrovascular and genetic disorders, Mitochondrial Function and Pathology, Cholesterol and Lipid Metabolism, Genetic Neurodegenerative Diseases, Moyamoya disease diagnosis and treatment
Most-Cited Works
- → Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects(2017)295 cited
- → GFAP mutations, age at onset, and clinical subtypes in Alexander disease(2011)253 cited
- → McLeod neuroacanthocytosis: Genotype and phenotype(2001)241 cited
- → MECP2 mutation in male patients with non‐specific X‐linked mental retardation(2000)229 cited
- → A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling(2013)227 cited
- → Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene(2006)180 cited