Francesca L Conforti
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Explore the profile of Francesca L Conforti including associated specialties, affiliations and a list of published articles.
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18
Citations
747
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Recent Articles
1.
Johnson J, Miller D, Li R, Kumaran R, Alahmady N, Cookson M, et al.
JAMA Neurol
. 2021 Aug;
78(10):1236-1248.
PMID: 34459874
Importance: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation. Objective: To identify the...
2.
Salimonti A, Carbone F, Romano E, Pellegrino M, Benincasa C, Micali S, et al.
Front Plant Sci
. 2020 Mar;
11:66.
PMID: 32117401
Cultivated olive ( L. subsp. var. ) is the most ancient and spread tree crop in the Mediterranean basin. An important quality trait for the extra virgin olive oil is...
3.
Nicolas A, Kenna K, Renton A, Ticozzi N, Faghri F, Chia R, et al.
Neuron
. 2018 Mar;
97(6):1267-1288.
PMID: 29566793
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed...
4.
Lo Bello M, Di Fini F, Notaro A, Spataro R, Conforti F, La Bella V
Neurodegener Dis
. 2017 Oct;
17(6):292-303.
PMID: 29035885
Background: Amyotrophic lateral sclerosis (ALS) shows a strong genetic basis, with SOD1, FUS, TARDBP, and C9ORF72 being the genes most frequently involved. This has allowed identification of asymptomatic mutation carriers,...
5.
Bonaventura G, Iemmolo R, DAmico A, La Cognata V, Costanzo E, Zappia M, et al.
J Cell Physiol
. 2017 Sep;
233(4):3343-3351.
PMID: 28926110
Amyotrophic lateral sclerosis (ALS) is a fatal and disabling neurodegenerative disease characterized by upper and lower motor neurons depletion. In our previous work, comprehensive genomic profiling of 41 motor cortex...
6.
Sproviero W, Shatunov A, Stahl D, Shoai M, van Rheenen W, Jones A, et al.
Neurobiol Aging
. 2016 Dec;
51:178.e1-178.e9.
PMID: 28017481
We investigated a CAG trinucleotide repeat expansion in the ATXN2 gene in amyotrophic lateral sclerosis (ALS). Two new case-control studies, a British dataset of 1474 ALS cases and 567 controls,...
7.
Patitucci A, Magariello A, Ungaro C, Muglia M, Conforti F, Gabriele A, et al.
J Pediatr Genet
. 2016 Sep;
1(2):99-102.
PMID: 27625809
The routine molecular test for spinal muscular atrophy (SMA) diagnosis is based on the detection of a homozygous deletion of exons 7 and 8 of the telomeric copy of the...
8.
Chio A, Mora G, Sabatelli M, Caponnetto C, Lunetta C, Traynor B, et al.
Neurobiol Aging
. 2016 Jan;
39:218.e5-8.
PMID: 26733254
There are indications that both familial amyotrophic lateral sclerosis (ALS) and sporadic ALS phenotype and prognosis are partly regulated by genetic and environmental factors, supporting the theory that ALS is...
9.
Chio A, Mora G, Sabatelli M, Caponnetto C, Lunetta C, Traynor B, et al.
Neurobiol Aging
. 2015 Jul;
36(10):2906.e7-11.
PMID: 26174855
It has been recently reported that the p.His63Asp polymorphism of the HFE gene accelerates disease progression both in the SOD1 transgenic mouse and in amyotrophic lateral sclerosis (ALS) patients. We...
10.
Chio A, Mora G, Sabatelli M, Caponnetto C, Traynor B, Johnson J, et al.
Neurobiol Aging
. 2015 Mar;
36(4):1767.e3-1767.e6.
PMID: 25726362
Mutations in CHCHD10 have recently been described as a cause of frontotemporal dementia (FTD) comorbid with amyotrophic lateral sclerosis (ALS). The aim of this study was to assess the frequency...