The group main research lines were the genetic and neuroinflammatory (HLA) factors influencing the course of amyotrophic lateral sclerosis (ALS), and the effect of genetic variants in patients with Myasthenia gravis (MG) and Parkinson Disease. We have also developed two new translational research lines on: genotype-phenotype strategies based on RNAseq analysis of muscle biopsies of patients with neuromuscular diseases (titinopathy); and on clinical and molecular biomarkers for the diagnosis, follow-up and personalized treatment in CIDP (Chronic Inflammatory Demyelinating Polyneuropathy). Our group has published results through 16 papers including: clinical studies in juvenile ALS describing new phenotypes; New genetic factors associated to MG and CANVAS; and new therapeutic strategies for MG. Participation in 18 clinical trials for new treatments in ALS (2 in Ariclomolol), in MG (7) and in CIDP (6). Our group have been selected to start 2 new clinical trials in ALS.
Group Leader
Raul Juntas Morales
Principal Investigator (PI)
Jose Manuel Vidal Taboada
Researchers
Maria Salvadó Figueras, David Ovelleiro Fraile, Jennifer Anna Pérez Castro
PhD Students
Laura Zalba Jadraque, Daniel Sánchez-Tejerina San José, Arnau Llauradó Gayete, Javier Sotoca Fernandez
Lab Technicians
Consuelo García Carmona
Nursing and Technical Staff
Ana Belén Cánovas Segura, Viviana Jaumandreu Martínez, Maria Angels Flo García, Carmen Landabaso Roquero, Patricia Ortiz Bagan
9
PUBLICATIONS
44.4%
%Q1
45
IMPACT FACTOR
5.00
AVERAGE IMPACT FACTOR
SELECTED ARTICLES
Salvado M, Caro JL, Garcia C, Rudilla F, Zalba-Jadraque L, Lopez E, Sanjuan E, Gamez J, Vidal-Taboada JM
HLA-DQB1*05:02, *05:03, and *03:01 alleles as risk factors for myasthenia gravis in a Spanish cohort
Neurological Sciences. 2022;43(8):5057-5065
DOI: DOI: 10.1007/s10072-022-06102-y
IF: 3.307
Sánchez-Tejerina D, Restrepo-Vera JL, Rovira-Moreno E, Codina-Sola M, Llauradó A, Sotoca J, Salvado M, Raguer N, García-Arumí E, Juntas-Morales R
An Atypical Presentation of Upper Motor Neuron Predominant Juvenile Amyotrophic Lateral Sclerosis Associated with TARDBP Gene: A Case Report and Review of the Literature
Genes (Basel). 2022;13(8):1483
DOI: doi: 10.3390/genes13081483
IF: 4.096
Llauradó A, Rovira-Moreno E, Codina-Solà M, Martínez-Saez E, Salvadó M, Sanchez-Tejerina D, Sotoca J, López-Diego V, Restrepo-Vera JL, Garcia-Arumi E, Juntas-Morales R
Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene
Clinical Genetics. 2023;103(4):492-494
DOI: doi: 10.1111/cge.14287
IF: 4.440
Sánchez-Tejerina D, Sotoca J, Llaurado A, López-Diego V, Juntas-Morales R, Salvado M
New Targeted Agents in Myasthenia Gravis and Future Therapeutic Strategies
Journal of Clinical Medicine. 2022;11(21):6394
DOI: doi: 10.3390/jcm11216394
IF: 4.242
Benkirane M, Da Cunha D, Marelli C, Larrieu L, Renaud M, Varilh J, Pointaux M, Baux D, Ardouin O, Vangoethem C, Taulan M, Daumas Duport B, Bergougnoux A, Corbillé AG, Cossée M, Juntas Morales R, Tuffery-Giraud S, Koenig M, Isidor B, Vincent MC
RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology
Brain. 2022;145(11):3770-3775
DOI: doi: 10.1093/brain/awac280
IF: 13.501
PI19-00593: High resolution genotyping of the HLA genes and analysis of their expression in the CNS in Amyotrophic Lateral Sclerosis: testing the neuroinflammatory hypothesis
Principal Investigator: Jose Manuel Vidal-Taboada
Agency: Instituto de Salud Carlos III (ISCIII)
Funding: 117,000 €
Period: 2019-2024
Investigating the immunological abnormalities (CD4 +, CD8 +, HLA, thymus) in the death of neuronal dopaminergic cells in a cohort of patients with sporadic, late-onset Parkinson’s disease associated with Myasthenia Gravis: Role of the autoimmune hypothesis
Principal Investigator: IP: Raúl Juntas Morales, co-IP: Jose Manuel Vidal-Taboada
Agency: Fundación Josep Palau Francàs-VHIR
Funding: 90,000 €
Period: 2019- 2023
Clinical, molecular and neurophysiological biomarkers for the diagnosis, follow-up and personalized treatment in CIDP (Chronic Inflammatory Demyelinating Polyneuropathy)
Principal Investigator: IP: Raúl Juntas Morales, co-IP: Jose Manuel Vidal-Taboada
Agency: VHIR programa post FSE Carles Margarit
Funding: 30,000 €
Period: 2021-2022
Functional validation of Variants of Uncertain Significance (VUS) in neuromuscular disease genes using RNAseq strategies
Principal Investigator: Raúl Juntas Morales
Agency: Sanofi-Aventis-UAB
Funding: 90,000 €
Period: 2021-2023
Clinical, molecular and neurophysiological biomarkers for the diagnosis, follow-up and personalized treatment in CIDP
Principal Investigator: IP: Raúl Juntas Morales, co-IP: Jose Manuel Vidal-Taboada
Agency: VHIR programa García Dorado
Funding: 117,000 €
Period: 2022-2024
Genetic variant in the CX3CR1 gene as a prognosis marker for Amyotrophic Lateral Sclerosis (ALS)
Priority Number: EP 1338220
Priority Date: 30/05/2013
Applicants: 25% VHIR / 50% UB, IDIBAPS / 25% FUND. SALUD LA RIOJA
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