List of works - Anna Bartoletti Stella

A Novel Eight Octapeptide Repeat Insertion in PRNP Causing Prion Disease in a Danish Family

scientific article published on 01 July 2019

A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.

scientific article published on 19 February 2014

A patient with PMP22-related hereditary neuropathy and DBH-gene-related dysautonomia

article

Age at onset of genetic (E200K) and sporadic Creutzfeldt-Jakob diseases is modulated by the gene

article

Analysis of RNA Expression Profiles Identifies Dysregulated Vesicle Trafficking Pathways in Creutzfeldt-Jakob Disease

scientific article published on 16 November 2018

Gamma rays induce a p53-independent mitochondrial biogenesis that is counter-regulated by HIF1α.

scientific article published on 13 June 2013

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways

scientific article

Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing

scientific article published on 13 February 2018

Messenger RNA processing is altered in autosomal dominant leukodystrophy

scientific article published on 30 January 2015

Messenger RNA processing is altered in autosomal dominant leukodystrophy.

scientific article

Mitochondrial DNA mutations in oncocytic adnexal lacrimal glands of the conjunctiva.

scientific article published in May 2011

Molecular Characterization of the Danish Prion Diseases Cohort With Special Emphasis on Rare and Unique Cases

scientific article published on 01 November 2019

Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature

scientific article published on 15 June 2017

Muscle ceroid lipofuscin-like deposits in a patient with corticobasal syndrome due to a progranulin mutation

scientific article published on 22 May 2017

Skin biopsy and microneurography disclose selective noradrenergic dysfunction due to dopamine-β-hydroxylase deficiency.

scientific article published on 21 May 2016

The First Historically Reported Italian Family with FTD/ALS Teaches a Lesson on C9orf72 RE: Clinical Heterogeneity and Oligogenic Inheritance.

scientific article published in January 2018

Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis.

scientific article published on 26 April 2018

List of works by Anna Bartoletti Stella