Roberto Simone
Overview
Explore the profile of Roberto Simone including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
20
Citations
983
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Magrinelli F, Rocca C, Simone R, Chiozzi R, Jaunmuktane Z, Mencacci N, et al.
Mov Disord
. 2022 Nov;
38(2):347-353.
PMID: 36420574
Background: Heterozygous NKX2-1 loss-of-function variants cause combinations of hyperkinetic movement disorders (MDs, particularly childhood-onset chorea), pulmonary dysfunction, and hypothyroidism. Mobile element insertions (MEIs) are potential disease-causing structural variants whose detection...
2.
Ronco R, Perini C, Curro R, Dominik N, Facchini S, Gennari A, et al.
Neurology
. 2022 Oct;
100(5):e543-e554.
PMID: 36289003
Background And Objective: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is an autosomal recessive neurodegenerative disease characterized by adult-onset and slowly progressive sensory neuropathy, cerebellar dysfunction, and vestibular impairment....
3.
Simone R, Javad F, Emmett W, Wilkins O, Almeida F, Barahona-Torres N, et al.
Nature
. 2021 May;
594(7861):117-123.
PMID: 34012113
The human genome expresses thousands of natural antisense transcripts (NAT) that can regulate epigenetic state, transcription, RNA stability or translation of their overlapping genes. Here we describe MAPT-AS1, a brain-enriched...
4.
Ling H, Gelpi E, Davey K, Jaunmuktane Z, Mok K, Jabbari E, et al.
Acta Neuropathol
. 2020 Jan;
139(4):717-734.
PMID: 31950334
Corticobasal degeneration typically progresses gradually over 5-7 years from onset till death. Fulminant corticobasal degeneration cases with a rapidly progressive course were rarely reported (RP-CBD). This study aimed to investigate...
5.
Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau W, et al.
Nat Genet
. 2019 Apr;
51(5):920.
PMID: 31028356
In the version of this article initially published, the name of author Wai Yan Yau was misspelled. The error has been corrected in the HTML and PDF versions of the...
6.
Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau W, et al.
Nat Genet
. 2019 Mar;
51(4):649-658.
PMID: 30926972
Late-onset ataxia is common, often idiopathic, and can result from cerebellar, proprioceptive, or vestibular impairment; when in combination, it is also termed cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). We...
7.
Counsell J, Karda R, Diaz J, Carey L, Wiktorowicz T, Buckley S, et al.
Mol Ther Nucleic Acids
. 2018 Aug;
12:626-634.
PMID: 30081233
Viral vectors are rapidly being developed for a range of applications in research and gene therapy. Prototype foamy virus (PFV) vectors have been described for gene therapy, although their use...
8.
Simone R, Balendra R, Moens T, Preza E, Wilson K, Heslegrave A, et al.
EMBO Mol Med
. 2017 Nov;
10(1):22-31.
PMID: 29113975
Intronic GGGGCC repeat expansions in are the most common known cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), which are characterised by degeneration of cortical and motor neurons,...
9.
Ferrari R, Ryten M, Simone R, Trabzuni D, Nicolaou N, Hondhamuni G, et al.
Neurobiol Aging
. 2017 Aug;
36(11):3118.
PMID: 28764847
No abstract available.
10.
Smethurst P, Newcombe J, Troakes C, Simone R, Chen Y, Patani R, et al.
Neurobiol Dis
. 2016 Sep;
96:236-247.
PMID: 27590623
Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease (MND), and >95% of familial and sporadic cases involve the deposition of insoluble aggregated, phosphorylated and cleaved...