Mariangela Lo Giudice
Oasi Maria SS(IT)Istituti di Ricovero e Cura a Carattere Scientifico(IT)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Mitochondrial Function and Pathology, Genomic variations and chromosomal abnormalities, Hereditary Neurological Disorders, Genetic Neurodegenerative Diseases
Most-Cited Works
- → Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes(2008)806 cited
- → Evidence of kinesin heavy chain ( KIF5A ) involvement in pure hereditary spastic paraplegia(2004)118 cited
- → CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy(2008)90 cited
- → A Missense Mutation in the Coiled-Coil Domain of the KIF5A Gene and Late-Onset Hereditary Spastic Paraplegia(2006)52 cited
- → 6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies(2013)30 cited
- → How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation(2001)26 cited