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Peripheral Nervous System

Our laboratory, in the Neuromuscular Disorders Unit of the Neurology Service, has a twenty-year history of clinical care and research into amyotrophic lateral sclerosis (ALS) and other motor neurone diseases (hereditary, spastic paraplegia, post-polio syndrome, Hirayama disease, spinal muscular atrophy), myasthenia gravis, genetically determined myopathies, and peripheral neuropathies. Our main lines of research focus on the molecular mechanisms of amyotrophic lateral sclerosis and how genetic mutations in family ELA predispose or modify genetic factors. We also look for effective biomarkers in blood and in cerebrospinal fluid that allow the evaluation of new medication.

Publications

Global disparities in availability of epinephrine auto-injectors.

PMID: 37915955
Journal: World Allergy Organization Journal
Year: 2023
Reference: World Allergy Organ J. 2023 Oct 20;16(10):100821. doi: 10.1016/j.waojou.2023.100821. eCollection 2023 Oct.
Impact factor:
Publication type: Paper in international publication
Authors: Aixut, Sandra; Ansotegui, Ignacio J; Caminati, Marco; Campbell, Dianne E; Cardona, Victoria; Chiarella, Sergio E; Crego-Vicente, Beatriz; Cuervo-Pardo, Lyda; Darlenski, Razvigor; Ebisawa, Motohiro et al.
DOI: 10.1016/j.waojou.2023.100821

Titin copy number variations associated with dominant inherited phenotypes.

PMID: 37935568
Journal: JOURNAL OF MEDICAL GENETICS
Year: 2023
Reference: J Med Genet. 2023 Nov 7:jmg-2023-109473. doi: 10.1136/jmg-2023-109473.
Impact factor:
Publication type: Paper in international publication
Authors: Alonso Pacheco, M L; Baniandres Rodriguez, O; Beggs, Alan; Ben Yaou, Rabah; Bertini, Enrico Silvio; Bloch, Adrien; Boespflug-Tanguy, Odile; Bonne, Gisele; Chapon, Francoise; Cossee, Mireille et al.
DOI: 10.1136/jmg-2023-109473

Anticoagulation and Bleeding during Veno-Venous Extracorporeal Membrane Oxygenation: Insights from the PROTECMO Study.

PMID: 37943110
Journal: AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
Year: 2023
Reference: Am J Respir Crit Care Med. 2023 Nov 9. doi: 10.1164/rccm.202305-0896OC.
Impact factor:
Publication type: Paper in international publication
Authors: Agerstrand, Cara; Ait Hssain, Ali; Arcadipane, Antonio; Balik, Martin; Beggs, Alan; Ben Yaou, Rabah; Bertini, Enrico Silvio; Bloch, Adrien; Boespflug-Tanguy, Odile; Bonne, Gisele et al.
DOI: 10.1164/rccm.202305-0896OC

Clinical and genetic features of patients suffering from CMT4J.

PMID: 37950760
Journal: JOURNAL OF NEUROLOGY
Year: 2023
Reference: J Neurol. 2023 Nov 11. doi: 10.1007/s00415-023-12076-4.
Impact factor:
Publication type: Paper in international publication
Authors: Aggarwal, Rohit; Amato, Anthony A; Andersson, Helena; Andrade-Ortega, Lilia; Ascherman, Dana; Attarian, Shahram; Beloribi-Djefaflia, Sadia; Benveniste, Olivier; Bonello-Palot, Nathalie; Callen, Jeffrey P et al.
DOI: 10.1007/s00415-023-12076-4

HLA-DQB1*05:02, *05:03, and *03:01 alleles as risk factors for myasthenia gravis in a Spanish cohort.

PMID: 35524016
Journal: NEUROLOGICAL SCIENCES
Year: 2022
Reference: Neurol Sci. 2022 May 6. pii: 10.1007/s10072-022-06102-y. doi: 10.1007/s10072-022-06102-y.
Impact factor: 3.307
Publication type: Paper in international publication
Authors: Salvado, Maria, Caro, Jose Luis, Rudilla, Francesc, Zalba-Jadraque, Laura, Lopez, Eva, Sanjuan, Elia, Gamez, Josep, Vidal-Taboada, Jose Manuel, Garcia, Cecilia et al.
DOI: 10.1007/s10072-022-06102-y

[Prognostic and monitoring biomarkers in chronic inflammatory demyelinating polyneuropathy].

PMID: 35332927
Journal: REVISTA DE NEUROLOGIA
Year: 2022
Reference: Rev Neurol. 2022 Apr 1;74(7):232-241. doi: 10.33588/rn.7407.2021495.
Impact factor: 0.87
Publication type: Review in national publication
Authors: Llaurado, A, Sanchez-Tejerina, D, Vidal-Taboada, J M, Salvado, M, Sotoca, J, Juntas-Morales, R et al.
DOI: 10.33588/rn.7407.2021495

Altered expression of the immunoregulatory ligand-receptor pair CD200-CD200R1 in the brain of Parkinson's disease patients.

PMID: 35296683
Journal: npj Parkinsons Disease
Year: 2022
Reference: NPJ Parkinsons Dis. 2022 Mar 16;8(1):27. doi: 10.1038/s41531-022-00290-2.
Impact factor: 8.651
Publication type: Paper in international publication
Authors: Rabaneda-Lombarte, Neus, Vidal-Taboada, Jose Manuel, Valente, Tony, Ezquerra, Mario, Fernandez-Santiago, Ruben, Marti, Maria Jose, Compta, Yaroslau, Saura, Josep, Sola, Carme et al.
DOI: 10.1038/s41531-022-00290-2

Efficacy and safety of IVIG in CIDP: Combined data of the PRIMA and PATH studies.

PMID: 30672091
Journal: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
Year: 2019
Reference: J Peripher Nerv Syst. 2019 Mar;24(1):48-55. doi: 10.1111/jns.12302. Epub 2019 Feb 15.
Impact factor:
Publication type: Paper in international publication
Authors: Ajroud-Driss, S; Akutsu, T; Algom, A; Allen, J; Antonia, M; Antonini, G; Attarian, S; Aufauvre, D; Auranen, M; Baba, M et al.
DOI: 10.1111/jns.12302

Eculizumab improves fatigue in refractory generalized myasthenia gravis.

PMID: 30905021
Journal: QUALITY OF LIFE RESEARCH
Year: 2019
Reference: Qual Life Res. 2019 Aug;28(8):2247-2254. doi: 10.1007/s11136-019-02148-2. Epub 2019 Mar 23.
Impact factor:
Publication type: Paper in international publication
Authors: Acar, Nazire Pinar; Agrawal, Brajesh; Agriesti, Julie; Ahn, So-Hyun; Akhter, Salma; Akiyama, Tetsuya; Alam, Sharmeen; Alberti Aguilo, Maria Antonia; Alboini, Paolo Emilio; Alcon, Karan et al.
DOI: 10.1007/s11136-019-02148-2

Congenital myasthenic syndrome caused by novel COL13A1 mutations.

PMID: 30767057
Journal: JOURNAL OF NEUROLOGY
Year: 2019
Reference: J Neurol. 2019 May;266(5):1107-1112. doi: 10.1007/s00415-019-09239-7. Epub 2019 Feb 14.
Impact factor:
Publication type: Paper in international publication
Authors: Abicht, Angela; Dusl, Marina; Gratacos, Margarida; Lochmuller, Hanns; Macaya, Alfons; Moreno, Teresa; Munell, Francina; Senderek, Jan; Strom, Tim M et al.
DOI: 10.1007/s00415-019-09239-7

Haplotype Analysis of the First A4V-SOD1 Spanish Family: Two Separate Founders or a Single Common Founder?

PMID: 31781168
Journal: Frontiers in Genetics
Year: 2019
Reference: Front Genet. 2019 Nov 8;10:1109. doi: 10.3389/fgene.2019.01109. eCollection 2019.
Impact factor: 3.517
Publication type: Paper in international publication
Authors: Gamez, Josep, Morales, Miguel, Salvado, Maria, Vidal-Taboada, Jose Manuel, Garcia, Cecilia, Syriani, Enrique et al.
DOI: 10.3389/fgene.2019.01109

Association study of 37 genes related to serotonin and dopamine neurotransmission and neurotrophic factors in cocaine dependence.

PMID: 23241418
Journal: GENES BRAIN AND BEHAVIOR
Year: 2013
Reference: Genes Brain Behav. 2013 Feb;12(1):39-46. doi: 10.1111/gbb.12013. Epub 2013 Jan 10.
Impact factor:
Publication type: Paper in international publication
Authors: Barral, C; Casas, M; Cormand, B; Fernandez-Castillo, N; Gratacos, M; Grau-Lopez, L; Prat, G; Ramos-Quiroga, J A; Ribases, M; Rodriguez-Cintas, L et al.
DOI: 10.1111/gbb.12013

Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy.

PMID: 22264561
Journal: NEUROMUSCULAR DISORDERS
Year: 2012
Reference: Neuromuscul Disord. 2012 May;22(5):394-400. doi: 10.1016/j.nmd.2011.11.006. Epub 2012 Jan 20.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; ; et al.
DOI: 10.1016/j.nmd.2011.11.006