AB
Anna Bartoletti Stella
Research areas: Neuroscience · Cellular and Molecular Neuroscience · Alzheimer's disease research and treatments · Prion Diseases and Protein Misfolding · Dementia and Cognitive Impairment Research
0000-0001-6442-162X
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Publications (14)
- Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing Save
- The First Historically Reported Italian Family with FTD/ALS Teaches a Lesson on C9orf72 RE: Clinical Heterogeneity and Oligogenic Inheritance Save
- Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis Save
- Corrigendum: Messenger RNA processing is altered in autosomal dominant leukodystrophy [Human Molecular Genetics, 24 (2015) (2746-2756)] DOI:10.1093/hmg/ddv034 Save
- Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature Save
- Muscle ceroid lipofuscin-like deposits in a patient with corticobasal syndrome due to a progranulin mutation Save
- Skin biopsy and microneurography disclose selective noradrenergic dysfunction due to dopamine-β-hydroxylase deficiency Save
- A patient with PMP22-related hereditary neuropathy and DBH-gene-related dysautonomia Save
- Messenger RNA processing is altered in autosomal dominant leukodystrophy Save
- A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype Save
- Gamma rays induce a p53-independent mitochondrial biogenesis that is counter-regulated by HIF1α Save
- Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways Save
- Mitochondrial DNA mutations in oncocytic adnexal lacrimal glands of the conjunctiva Save
- The genetic and metabolic signature of oncocytic transformation implicates HIF1α destabilization Save