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Luis J Azcona

Explore the profile of Luis J Azcona including associated specialties, affiliations and a list of published articles. Areas
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Articles 12
Citations 166
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Recent Articles
1.
Darvish H, Azcona L, Taghavi S, Ghasemi Firouzabadi S, Tafakhori A, Alehabib E, et al.
Ann Neurol . 2021 Jun; 90(2):319-323. PMID: 34180078
We here describe the identification of a novel variant in the anti-inflammatory Annexin A1 protein likely to be the cause of disease in two siblings with autosomal recessive parkinsonism. The...
2.
Darvish H, Azcona L, Tafakhori A, Mesias R, Ahmadifard A, Sanchez E, et al.
Sci Rep . 2020 Jan; 10(1):968. PMID: 31969655
Intellectual disability (ID), which presents itself during childhood, belongs to a group of neurodevelopmental disorders (NDDs) that are clinically widely heterogeneous and highly heritable, often being caused by single gene...
3.
Darvish H, Azcona L, Alehabib E, Jamali F, Tafakhori A, Ranji-Burachaloo S, et al.
Neurol Genet . 2019 Oct; 5(5):e356. PMID: 31583274
No abstract available.
4.
Darvish H, Bravo P, Tafakhori A, Azcona L, Ranji-Burachaloo S, Johari A, et al.
Mov Disord . 2018 Nov; 33(12):1968-1970. PMID: 30452786
No abstract available.
5.
Bravo P, Darvish H, Tafakhori A, Azcona L, Johari A, Jamali F, et al.
Mol Genet Genomic Med . 2018 Oct; 6(6):1243-1248. PMID: 30328284
Background: Early-onset Parkinson's disease (PD) is the most common inherited form of parkinsonism, with the PRKN gene being the most frequently identified mutated. Exon rearrangements, identified in about 43.2% of...
6.
Sanchez E, Azcona L, Paisan-Ruiz C
Mol Neurobiol . 2018 Jan; 55(8):6734-6754. PMID: 29344929
This study aimed to gain insights into the pathophysiology underlying PLA2G6-associated neurodegeneration that is implicated in three different neurological disorders, suggesting that other, unknown genetic or environmental factors might contribute...
7.
Wang J, Alinaghi S, Tafakhori A, Sikora E, Azcona L, Karkheiran S, et al.
Neurobiol Aging . 2017 Nov; 62:244.e15-244.e17. PMID: 29175279
A subset of early-onset Alzheimer's disease is inherited as an autosomal-dominant trait and is associated with mutations in the genes encoding β-amyloid precursor protein, presenilin 1, or presenilin 2. In...
8.
Darvish H, Azcona L, Tafakhori A, Ahmadi M, Ahmadifard A, Paisan-Ruiz C
NPJ Genom Med . 2017 Nov; 2. PMID: 29123918
Hereditary spastic paraplegias are a rare group of clinically and genetically heterogeneous neurodegenerative diseases, with upper motor neuron degeneration and progressive lower limb spasticity as their main phenotypic features. Despite...
9.
Ruiz-Martinez J, Azcona L, Bergareche A, Marti-Masso J, Paisan-Ruiz C
Neurol Genet . 2017 Aug; 3(5):e177. PMID: 28808687
Objective: Despite the enormous advancements made in deciphering the genetic architecture of Parkinson disease (PD), the majority of PD is idiopathic, with single gene mutations explaining only a small proportion...
10.
Vilas D, Fernandez-Santiago R, Sanchez E, Azcona L, Santos-Montes M, Casquero P, et al.
J Parkinsons Dis . 2017 Jul; 7(3):459-463. PMID: 28671144
Background: Common genetic variability in the ACMSD gene has been associated with increased risk for Parkinson's disease (PD) but ACMSD mutations in clinical cases of PD have so far not...