about
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways.Gamma rays induce a p53-independent mitochondrial biogenesis that is counter-regulated by HIF1α.Messenger RNA processing is altered in autosomal dominant leukodystrophyA mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.Messenger RNA processing is altered in autosomal dominant leukodystrophy.Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature.Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing.The First Historically Reported Italian Family with FTD/ALS Teaches a Lesson on C9orf72 RE: Clinical Heterogeneity and Oligogenic Inheritance.Skin biopsy and microneurography disclose selective noradrenergic dysfunction due to dopamine-β-hydroxylase deficiency.Mitochondrial DNA mutations in oncocytic adnexal lacrimal glands of the conjunctiva.Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis.Muscle ceroid lipofuscin-like deposits in a patient with corticobasal syndrome due to a progranulin mutationA patient with PMP22-related hereditary neuropathy and DBH-gene-related dysautonomia
P50
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P50
description
researcher ORCID ID = 0000-0001-6442-162X
@en
wetenschapper
@nl
name
Anna Bartoletti Stella
@ast
Anna Bartoletti Stella
@en
Anna Bartoletti Stella
@es
Anna Bartoletti Stella
@nl
type
label
Anna Bartoletti Stella
@ast
Anna Bartoletti Stella
@en
Anna Bartoletti Stella
@es
Anna Bartoletti Stella
@nl
prefLabel
Anna Bartoletti Stella
@ast
Anna Bartoletti Stella
@en
Anna Bartoletti Stella
@es
Anna Bartoletti Stella
@nl
P1153
35789613000
P21
P31
P496
0000-0001-6442-162X