Juan Francisco Vazquez-Costa
Overview
Explore the profile of Juan Francisco Vazquez-Costa including associated specialties, affiliations and a list of published articles.
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18
Citations
179
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Recent Articles
1.
Jimenez-Jimenez J, Navarrete I, Azorin I, Marti P, Vilchez R, Muelas N, et al.
Eur J Neurol
. 2024 Jul;
31(10):e16416.
PMID: 39051710
Background And Purpose: Pathogenic variants of the glycyl-tRNA synthetase 1 (GARS1) gene have been described as a cause of Charcot-Marie-Tooth disease type 2D, motor axonal neuropathy with upper limb predominance...
2.
Neurodegeneration Biomarkers in Adult Spinal Muscular Atrophy (SMA) Patients Treated with Nusinersen
Andres-Benito P, Vazquez-Costa J, Nungo Garzon N, Colomina M, Marco C, Gonzalez L, et al.
Int J Mol Sci
. 2024 Apr;
25(7).
PMID: 38612621
The objective of this study is to evaluate biomarkers for neurodegenerative disorders in adult SMA patients and their potential for monitoring the response to nusinersen. Biomarkers for neurodegenerative disorders were...
3.
Borrego-Hernandez D, Vazquez-Costa J, Dominguez-Rubio R, Exposito-Blazquez L, Aller E, Padro-Miquel A, et al.
Biomedicines
. 2024 Feb;
12(2).
PMID: 38397958
Intermediate CAG expansions in the gene ataxin-2 () are a known risk factor for ALS, but little is known about their role in FTD risk. Moreover, their contribution to the...
4.
Vazquez-Costa J
Amyotroph Lateral Scler Frontotemporal Degener
. 2023 Aug;
25(1-2):214-215.
PMID: 37647208
No abstract available.
5.
Nungo Garzon N, Pitarch Castellano I, Sevilla T, Vazquez-Costa J
Muscle Nerve
. 2023 Feb;
67(5):407-411.
PMID: 36815750
Introduction/aims: Risdiplam has been approved for the treatment of patients with 5q spinal muscular atrophy (SMA), but data from type 2 non-sitter patients are lacking. In this study we describe...
6.
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain
Baviera-Munoz R, Carretero-Vilarroig L, Vazquez-Costa J, Morata-Martinez C, Campins-Romeu M, Muelas N, et al.
Neurol Genet
. 2022 Dec;
8(6):e200038.
PMID: 36530930
Background And Objectives: To determine the diagnostic efficacy of clinical exome-targeted sequencing (CES) and spinocerebellar ataxia 36 (SCA36) screening in a real-life cohort of patients with cerebellar ataxia (CA) from...
7.
Antolini L, DiFrancesco J, Zedde M, Basso G, Arighi A, Shima A, et al.
Neurology
. 2021 Sep;
97(18):e1809-e1822.
PMID: 34531298
Background And Objectives: The goal of this work was to investigate the natural history and outcomes after treatment for spontaneous amyloid-related imaging abnormalities (ARIA)-like in cerebral amyloid angiopathy-related inflammation (CAA-ri)....
8.
Vazquez-Costa J, Paya-Montes M, Martinez-Molina M, Jaijo T, Szymanski J, Mazon M, et al.
Front Mol Neurosci
. 2021 Sep;
14:721047.
PMID: 34526879
Background And Purpose: Primary lateral sclerosis (PLS) is a progressive upper motor neuron (UMN) disorder. It is debated whether PLS is part of the amyotrophic lateral sclerosis (ALS) spectrum, or...
9.
Argente-Escrig H, Frasquet M, Vazquez-Costa J, Millet-Sancho E, Pitarch I, Tomas-Vila M, et al.
Ann Clin Transl Neurol
. 2021 Jul;
8(9):1809-1816.
PMID: 34323022
Background: Single-center clinical series provide important information on genetic distribution that can guide genetic testing. However, there are few such studies on pediatric populations with inherited peripheral neuropathies (IPNs). Methods:...
10.
Sivera R, Lupo V, Frasquet M, Argente-Escrig H, Alonso-Perez J, Diaz-Manera J, et al.
Eur J Neurol
. 2021 Jun;
28(9):3001-3011.
PMID: 34189813
Background And Purpose: MORC2 mutations have been described as a rare cause of axonal Charcot-Marie-Tooth disease (CMT2Z). The aim of this work was to determine the frequency and distribution of...