Lista de obras - Anna Bartoletti Stella - Dominio Público Uruguay

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.

artículo científico publicado en 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.

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2018

Messenger RNA processing is altered in autosomal dominant leukodystrophy

artículo científico publicado en 2015

Messenger RNA processing is altered in autosomal dominant leukodystrophy.

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

Lista de obras de Anna Bartoletti Stella

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

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

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

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

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

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

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

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

Messenger RNA processing is altered in autosomal dominant leukodystrophy

Messenger RNA processing is altered in autosomal dominant leukodystrophy.

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

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

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

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

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

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

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

Unusual Clinical Presentations Challenging the Early Clinical Diagnosis of Creutzfeldt-Jakob Disease