Giovanna Vaula

Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14

Peter St George‐Hyslop, Jonathan L. Haines, Marzia Mortilla et al. · Nature Genetics · 1992 · 463 citations · Full text

Neurodegenerative Diseases, Disease Locus, Alzheimer's Disease +9

Assessment of amyloid beta-protein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases.

Rudolph E. Tanzi, Giovanna Vaula, Donna Romano et al. · PubMed · 1992 · 197 citations

c-met is amplified but not mutated in a cell line with an activated met tyrosine kinase.

Carola Ponzetto, Silvia Giordano, Fiorenzo A. Peverali et al. · PubMed · 1991 · 174 citations

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

Elisa Giorgio, Daniel Robyr, Malte Spielmann et al. · Human Molecular Genetics · 2015 · 146 citations · Full text

Neurogenomics, Lysosomal Storage Disease, Genetics +23

Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the β‐amyloid precursor protein gene

Harry Karlinsky, Giovanna Vaula, Jonathan L. Haines et al. · Neurology · 1992 · 123 citations