The genetic and neuroinflammatory factors influencing the course of amyotrophic lateral sclerosis (ALS), and the effect of genetic variants in patients with Myasthenia gravis and Parkinson Disease have been the main research lines of the group. We have started two new translational research lines on: titinopathy using genotype-phenotype strategies based on RNAseq analysis of muscle biopsies; 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 21 papers including: clinical studies in ALS using a new treatment based on low-dose of IL-2; new phenotype-genotype correlations in myopathies and inherited neuropathy; New genetic factors associated to titinopathy and Hereditary Spastic Paraplegia. The group has performed studies regarding the impact of Covid-19 pandemic on ALS and critically ill patients attended at the NeuroMuscular Unit.

Group Leader
Raul Juntas Morales

Principal Investigator (PI)
Jose Manuel Vidal Taboada

Researchers
Maria Salvadó Figueras

PhD Students
Laura Zalba Jadraque, Daniel Sánchez-Tejerina San José, Arnau Llauradó Gayete, Javier Sotoca Fernández

Lab Technicians
Cecilia García Rodríguez, Consuelo García Carmona

Nursing and Technical Staff
Ana Belen Cánovas Segura, Carmen Landabaso Roquero, Patricia Ortiz Bagan, Maria Angels Flo García, Viviana Jaumandreu Martínez

3

PUBLICATIONS

11

IMPACT FACTOR

3.82

AVERAGE IMPACT FACTOR

SELECTED ARTICLES

Juntas Morales R, Perrin A, Solé G, Lacourt D, Pegeot H, Walther-Louvier U, Cintas P, Cances C, Espil C, Theze C, Zenagui R, Yauy K, Cosset E, Renard D, Rigau V, Maues de Paula A, Uro-Coste E, Arne-Bes MC, Martin Négrier ML, Leboucq, Acket B, Malfatti E, Biancalana V, Metay C, Richard P, Rendu J, Rivier F,Koenig M, Cossée M.
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.
Genes (Basel). 2021 Jul 31;12(8):1199.
DOI: 10.3390/genes12081199
IF: 4.096

Juntas Morales R, Perrin A, Chapon F, Thèze C, Lacourt D, Pégeot H, Uro-Coste E, Giovannini D, Leboucq N, Mallaret M, Lagrange E, Rigau V, Gaudon K, Richard P, Koenig M, Métay C, Cossée M.
Novel dominant distal titinopathy phenotype associated with copy number variation.
Ann Clin Transl Neurol. 2021 Sep;8(9):1906-1912.
DOI: 10.1002/acn3.51434
IF: 4.511

Breza M, Hirst J, Chelban V, Banneau G, Tissier L, Kol B, Bourinaris T, Said SA, Péréon Y, Heinzmann A, Debs R, Juntas-Morales R, Martinez VG, Camdessanche JP, Scherer-Gagou C, Zola JM, Athanasiou-Fragkouli A, Efthymiou S, Vavougios G, Velonakis G, Stamelou M, Tzartos J, Potagas C, Zambelis T, Mariotti C, Blackstone C, Vandrovcova J, Mavridis T, Kartanou C, Stefanis L, Wood N, Karadima G, LeGuern E, Koutsis G, Houlden H, Stevanin G.
Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease.
Mov Disord. 2021 Apr;36(4):1034-1038.
DOI: 10.1002/mds.28487
IF: 10.338

Esselin F, De La Cruz E, Pageot N, Juntas-Moralès R, Alphandéry S, Camu W.
Increased worsening of amyotrophic lateral sclerosis patients during Covid-19-related lockdown in France.
Amyotroph Lateral Scler Frontotemporal Degener. 2021 Nov;22(7-8):505-507.
DOI: 10.1080/21678421.2021.1883669
IF: 4.092

Ballvé A, Llauradó A, Palasí A, Quintana M, Martínez-Sáez E, Laínez E, Raguer N, Juntas-Morales R
Weakness as a complication of COVID-19 in critically ill patients: clinical features and prognostic factors in a case series
Rev Neurol. 2021 Jul 1;73(1):10-16.
DOI: 10.33588/rn.7301.2021042
IF: 0.84

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: 97,000 €
Period: 2019-2022

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: Raúl Juntas Morales, co-IP: Jose Manuel Vidal-Taboada
Agency: Fundació Josep Palau Francàs-VHIR
Funding: 90,000 €
Period: 2019- 2022

Clinical, molecular and neurophysiological biomarkers for the diagnosis, follow-up and personalized treatment in CIDP (Chronic Inflammatory Demyelinating Polyneuropathy)
Principal Investigator: 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
Funding: 90,000 €
Period: 2021-2023

INCbase: Inflammatory Neuropathy Consortium Base; an international CIDP registry
Principal Investigator: Raúl Juntas Morales
Agency: Felipe Etimov, Amsterdam Neurosciences, Department of Neurology, Amsterdam University Medical Centers, Amsterdam, The Netherlands
Funding: 0 €
Period: 2021-2024

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

Neurosciences

Research Areas