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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.

Team

Maria Salvadó Figueras

Maria Salvadó Figueras

Postdoctoral researcher
Peripheral Nervous System
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Anna Belen Canovas Segura

Anna Belen Canovas Segura

Research technician
Peripheral Nervous System
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Consuelo Garcia Carmona

Consuelo Garcia Carmona

Research technician
Peripheral Nervous System
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Jose Alemañ Diez

Jose Alemañ Diez

Predoctoral researcher
Peripheral Nervous System
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Margarita Gratacós Viñola

Margarita Gratacós Viñola

Peripheral Nervous System
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Daniel Sánchez-Tejerin San José

Daniel Sánchez-Tejerin San José

Predoctoral researcher
Peripheral Nervous System
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Maria Salvadó Figueras

Maria Salvadó Figueras

Postdoctoral researcher
Peripheral Nervous System
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Anna Belen Canovas Segura

Anna Belen Canovas Segura

Research technician
Peripheral Nervous System
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Consuelo Garcia Carmona

Consuelo Garcia Carmona

Research technician
Peripheral Nervous System
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Jose Alemañ Diez

Jose Alemañ Diez

Predoctoral researcher
Peripheral Nervous System
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Margarita Gratacós Viñola

Margarita Gratacós Viñola

Peripheral Nervous System
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Daniel Sánchez-Tejerin San José

Daniel Sánchez-Tejerin San José

Predoctoral researcher
Peripheral Nervous System
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Research lines

Genetic Mutations in Familial ALS

In our main research line, clinical/genetic characterization of familial forms of ALS, a Spanish/Italian collaboration evaluated a possible phenotype/genotype correlation and sought a founder effect in four Mediterranean families (3 Spanish and 1 Italian) carrying the p.I112M SOD1 mutation. This interesting study was motivated by the shared historical links between Catalonia and Sicily (Amyotroph Lateral Scler 2011;12:70-75).

IP: Josep Gamez Carbonell

Molecular Mechanisms of ALS

In 2011, our group investigated the prevalence of FUS/TLS mutations in a Catalan familial ALS cohort previously studied for SOD1 in 2006. We identified the first two FUS/TLS families in Spain. One of the main conclusions is that FUS/TLS mutations are the second most common cause of FALS in our population (Amyotroph Lateral Scler 2011;12:118-123).

IP: Josep Gamez Carbonell

Network of clinical experts in ALS (ALSUntangled)

Our group joined ALSUntangled, a network of clinical experts in ALS providing an informed opinion about alternative and off-label treatments, about which they are frequently asked by patients attending their clinics. The goals for each investigation are to clarify what is on offer, its cost, the scientific and ethical basis of the ‘‘treatment’’, and the potential benefits and risks. In consequence, we published the following reports: Amyotroph Lateral Scler 2011;12:471-2, Amyotroph Lateral Scler 2011;12:389-91, Amyotroph Lateral Scler 2011;12:309-11, Amyotroph Lateral Scler 2011;12:235-7, Amyotroph Lateral Scler 2011;12:153-5.

IP: Josep Gamez Carbonell

Projects

Developing a Comprehensive Biomarker Panel for Monitoring Progression and Early Detection in ALS Patients

IP: Raul Juntas Morales
Collaborators: Margarita Gratacós Viñola, Maria Salvadó Figueras, Nuria Raguer Sanz, David Ovelleiro Fraile, Consuelo Garcia Carmona, José Manuel Vidal Taboada, Javier Joaquín Sotoca Fernández, Arnau Llauradó Gayete, Daniel Sánchez-Tejerin San José
Funding agency: Fundación Francisco Luzón
Funding: 139000
Reference: FCO.LUZON/PROJECTES/2024/JUNTAS
Duration: 12/12/2024 - 11/12/2027

Desarrollo e implementación de un nuevo panel de biomarcadores clínicos y moleculares para pronosticar la progresión y la supervivencia en pacientes con ELA

IP: Raul Juntas Morales
Collaborators: Margarita Gratacós Viñola, Maria Salvadó Figueras, Nuria Raguer Sanz, David Ovelleiro Fraile, José Manuel Vidal Taboada, Javier Joaquín Sotoca Fernández, Arnau Llauradó Gayete, Daniel Sánchez-Tejerin San José
Funding agency: Instituto de Salud Carlos III
Funding: 190000
Reference: PI23/00850
Duration: 01/01/2024 - 31/12/2026

GRE: Sistema Nerviòs Perifèric

IP: Raul Juntas Morales
Collaborators: Anna Belen Canovas Segura, Maria Salvadó Figueras, Consuelo Garcia Carmona, José Manuel Vidal Taboada, Javier Joaquín Sotoca Fernández, Arnau Llauradó Gayete, Daniel Sánchez-Tejerin San José
Funding agency: Agència Gestió Ajuts Universitaris i de Recerca
Funding: 0.01
Reference: 2021 SGR 01121
Duration: 01/01/2022 - 30/06/2025

Publications

Usefulness of serum neurofilament light chain in chronic inflammatory demyelinating polyradiculoneuropathy.

PMID: 39874744
Journal: JOURNAL OF THE NEUROLOGICAL SCIENCES
Year: 2025
Reference: J Neurol Sci. 2025 Jan 18;470:123397. doi: 10.1016/j.jns.2025.123397.
Impact factor:
Publication type: Paper in international publication
Authors: Aleman, J; Comabella, M; Fissolo, N; Garcia-Carmona, C; Gratacos-Vinola, M; Juntas-Morales, R; Lainez, E; Llaurado, A; Raguer, N; Restrepo-Vera, J L et al.
DOI: 10.1016/j.jns.2025.123397

Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.

PMID: 38431252
Journal: Neurologia
Year: 2024
Reference: Neurologia (Engl Ed). 2024 Feb 29:S2173-5808(24)00047-6. doi: 10.1016/j.nrleng.2024.02.008.
Impact factor:
Publication type: Clinical guide
Authors: Alonso Jimenez, A; Antelo Pose, A; Calabria Gallego, M D; Casasnovas, C; Cemillan Fernandez, C A; Ciano-Petersen, N L; Esteban Perez, J; Fenollar Cortes, M; Frasquet Carrera, M; Gallano Petit, M P et al.
DOI: 10.1016/j.nrleng.2024.02.008

Safety and efficacy of arimoclomol in patients with early amyotrophic lateral sclerosis (ORARIALS-01): a randomised, double-blind, placebo-controlled, multicentre, phase 3 trial.

PMID: 38782015
Journal: LANCET NEUROLOGY
Year: 2024
Reference: Lancet Neurol. 2024 May 20:S1474-4422(24)00134-0. doi: 10.1016/S1474-4422(24)00134-0.
Impact factor:
Publication type: Paper in international publication
Authors: Andersen, Peter M; Benatar, Michael; Bennett, Richard; Blaettler, Thomas; Camu, William; Chio, Adriano; Dang, Hoang; Elliott, Matthew; Geist, Marie A; Genge, Angela et al.
DOI: 10.1016/S1474-4422(24)00134-0

Usefulness of somatosensory evoked potentials for monitoring the clinical course of patients with chronic inflammatory demyelinating polyradiculoneuropathy.

PMID: 39132869
Journal: MUSCLE & NERVE
Year: 2024
Reference: Muscle Nerve. 2024 Aug 12. doi: 10.1002/mus.28234.
Impact factor:
Publication type: Paper in international publication
Authors: Aleman, J; Gratacos-Vinola, M; Juntas-Morales, R; Lainez, E; Llaurado, A; Lopez-Diego, V; Raguer, N; Restrepo-Vera, J L; Salvado, M; Sanchez-Tejerina, D et al.
DOI: 10.1002/mus.28234

Spectrum disorder of RFC1 expansions/CANVAS: Clinical and electrophysiological characterization of a group of 31 patients.

PMID: 39721397
Journal: CLINICAL NEUROPHYSIOLOGY
Year: 2024
Reference: Clin Neurophysiol. 2024 Dec 19;170:136-144. doi: 10.1016/j.clinph.2024.12.007.
Impact factor:
Publication type: Paper in international publication
Authors: Fernandez Alvarez, Paula; Garcia Arumi, Elena; Gratacos-Vinola, Margarida; Juntas, Raul; Lainez, Elena; Llaurado, Arnau; Raguer, Nuria; Salvado, Maria; Sanchez-Tejerina, Daniel; Santa-Cruz, Daniela Isabel et al.
DOI: 10.1016/j.clinph.2024.12.007

The role of autoantibody levels as biomarkers in the management of patients with myasthenia gravis: a systematic review and expert appraisal.

PMID: 36094738
Journal: EUROPEAN JOURNAL OF NEUROLOGY
Year: 2023
Reference: Eur J Neurol. 2023 Jan;30(1):266-282. doi: 10.1111/ene.15565. Epub 2022 Oct 7.
Impact factor:
Publication type: Review in international publication
Authors: Baggi, Fulvio; Behin, Anthony; Crathorne, Louise; Evoli, Amelia; Holmes, Kris; Juntas Morales, Raul; Kostera-Pruszczyk, Anna; Leite, Maria-Isabel; Mantegazza, Renato; Meisel, Andreas et al.
DOI: 10.1111/ene.15565

Chronic progressive external ophthalmoplegia plus syndrome due to Homozygous Missense Variant in TOP3A gene.

PMID: 36544354
Journal: CLINICAL GENETICS
Year: 2023
Reference: Clin Genet. 2023 Apr;103(4):492-494. doi: 10.1111/cge.14287. Epub 2022 Dec 28.
Impact factor:
Publication type: Letter whit IF
Authors: Codina-Sola, Marta; Garcia-Arumi, Elena; Juntas-Morales, Raul; Llaurado, Arnau; Lopez-Diego, Veronica; Martinez-Saez, Elena; Restrepo-Vera, Juan Luis; Rovira-Moreno, Eulalia; Salvado, Maria; Sanchez-Tejerina, Daniel et al.
DOI: 10.1111/cge.14287

Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial.

PMID: 36681445
Journal: LANCET NEUROLOGY
Year: 2023
Reference: Lancet Neurol. 2023 Feb;22(2):127-136. doi: 10.1016/S1474-4422(22)00495-1.
Impact factor:
Publication type: Paper in international publication
Authors: Adanyeguh, Isaac; Barbier, Magali; Belen Canovas, Anna; Bergner, Caroline; Beyene, Tiggy; Brito Pires, Claudia Maria; Corre, Camille; Dunaway Young, Sally; Duong, Tina; Eichler, Florian et al.
DOI: 10.1016/S1474-4422(22)00495-1

Distal hereditary motor neuropathy due to a novel YARS1 gene pathogenic variant.

PMID: 36631979
Journal: MUSCLE & NERVE
Year: 2023
Reference: Muscle Nerve. 2023 Jun;67(6):E22-E24. doi: 10.1002/mus.27788. Epub 2023 Mar 27.
Impact factor:
Publication type: Letter whit IF
Authors: Codina-Sola, Marta; Garcia-Arumi, Elena; Gratacos-Vinola, Margarida; Juntas-Morales, Raul; Llaurado, Arnau; Raguer, Nuria; Rovira-Moreno, Eulalia; Salvado, Maria; Sanchez-Tejerina, Daniel; Sotoca, Javier et al.
DOI: 10.1002/mus.27788

Survey on the management of Pompe disease in routine clinical practice in Spain.

PMID: 36471448
Journal: Orphanet Journal of Rare Diseases
Year: 2022
Reference: Orphanet J Rare Dis. 2022 Dec 5;17(1):426. doi: 10.1186/s13023-022-02574-5.
Impact factor:
Publication type: Paper in international publication
Authors: Diaz-Manera, Jordi; Diaz-Marin, Carmina; Dominguez-Gonzalez, Cristina; Juntas-Morales, Raul; Nascimiento-Osorio, Andres; Rivera-Gallego, Alberto et al.
DOI: 10.1186/s13023-022-02574-5

New Targeted Agents in Myasthenia Gravis and Future Therapeutic Strategies.

PMID: 36362622
Journal: Journal of Clinical Medicine
Year: 2022
Reference: J Clin Med. 2022 Oct 28;11(21). pii: jcm11216394. doi: 10.3390/jcm11216394.
Impact factor:
Publication type: Review in international publication
Authors: Juntas-Morales, Raul; Llaurado, Arnau; Lopez-Diego, Veronica; Salvado, Maria; Sanchez-Tejerina, Daniel; Sotoca, Javier et al.
DOI: 10.3390/jcm11216394

[Guillain-Barre syndrome and thrombocytopenia after SARS-CoV-2 vaccination with Moderna. A case report].

PMID: 36218255
Journal: REVISTA DE NEUROLOGIA
Year: 2022
Reference: Rev Neurol. 2022 Oct 16;75(8):247-250. doi: 10.33588/rn.7508.2022138.
Impact factor:
Publication type: Letter or abstract
Authors: Cabirta, A; Carpio, C; Juntas, R; Lazaro, C; Llaurado, A; Raguer, N; Restrepo, J; Salvado, M; Sanchez-Tejerina, D; Sotoca, J et al.
DOI: 10.33588/rn.7508.2022138

An Atypical Presentation of Upper Motor Neuron Predominant Juvenile Amyotrophic Lateral Sclerosis Associated with TARDBP Gene: A Case Report and Review of the Literature.

PMID: 36011394
Journal: Genes
Year: 2022
Reference: Genes (Basel). 2022 Aug 19;13(8). pii: genes13081483. doi: 10.3390/genes13081483.
Impact factor:
Publication type: Letter or abstract
Authors: Codina-Sola, Marta; Garcia-Arumi, Elena; Juntas-Morales, Raul; Llaurado, Arnau; Raguer, Nuria; Restrepo-Vera, Juan Luis; Rovira-Moreno, Eulalia; Salvado, Maria; Sanchez-Tejerina, Daniel; Sotoca, Javier et al.
DOI: 10.3390/genes13081483

[Weakness as a complication of COVID-19 in critically ill patients: clinical features and prognostic factors in a case series].

PMID: 34170003
Journal: REVISTA DE NEUROLOGIA
Year: 2021
Reference: Rev Neurol. 2021 Jul 1;73(1):10-16. doi: 10.33588/rn.7301.2021042.
Impact factor:
Publication type: Paper in national publication
Authors: Ballve, A; Juntas-Morales, R; Lainez, E; Llaurado, A; Martinez-Saez, E; Palasi, A; Quintana, M; Raguer, N et al.
DOI: 10.33588/rn.7301.2021042

Implications of initiating antiseizure drugs prior to the performance of EEG in first epileptic seizures.

PMID: 33875301
Journal: NEUROLOGIA
Year: 2021
Reference: Neurologia (Engl Ed). 2021 Apr 16:S0213-4853(21)00053-0. doi: 10.1016/j.nrl.2021.02.014.
Impact factor:
Publication type: Paper in national publication
Authors: Abraira, L; Ballve, A; Campos, D; Fonseca, E; Llaurado, A; Olive, M; Quintana, M; Requena, M; Santamarina, E; Sueiras, M et al.
DOI: 10.1016/j.nrl.2021.02.014

Cognitive decline in amyotrophic lateral sclerosis: Neuropathological substrate and genetic determinants.

PMID: 33576076
Journal: BRAIN PATHOLOGY
Year: 2021
Reference: Brain Pathol. 2021 May;31(3):e12942. doi: 10.1111/bpa.12942. Epub 2021 Feb 12.
Impact factor:
Publication type: Paper in international publication
Authors: Aldecoa, Iban; Antonell, Anna; Bajo, Lorena; Balasa, Mircea; Borrego-Ecija, Sergi; Cano, Antonio; Clarimon, Jordi; Gamez, Josep; Gelpi, Ellen; Llado, Albert et al.
DOI: 10.1111/bpa.12942

Increased worsening of amyotrophic lateral sclerosis patients during Covid-19-related lockdown in France.

PMID: 33576710
Journal: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Year: 2021
Reference: Amyotroph Lateral Scler Frontotemporal Degener. 2021 Nov;22(7-8):505-507. doi: 10.1080/21678421.2021.1883669. Epub 2021 Feb 12.
Impact factor:
Publication type: Paper in international publication
Authors: Alphandery, Sebastien; Camu, William; De La Cruz, Elisa; Esselin, Florence; Juntas-Morales, Raul; Pageot, Nicolas et al.
DOI: 10.1080/21678421.2021.1883669

Prediabetes Is Independently Associated with Subclinical Carotid Atherosclerosis: An Observational Study in a Non-Urban Mediterranean Population.

PMID: 32645918
Journal: Journal of Clinical Medicine
Year: 2020
Reference: J Clin Med. 2020 Jul 7;9(7). pii: jcm9072139. doi: 10.3390/jcm9072139.
Impact factor:
Publication type: Paper in international publication
Authors: Canivell, Silvia; Castelblanco, Esmeralda; Falguera, Mireia; Franch-Nadal, Josep; Gratacos, Monica; Marsal, Josep Ramon; Mata-Cases, Manel; Mauricio, Didac; Miro, Neus; Mollo, Angels et al.
DOI: 10.3390/jcm9072139

Masitinib as an add-on therapy to riluzole in patients with amyotrophic lateral sclerosis: a randomized clinical trial.

PMID: 31280619
Journal: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Year: 2020
Reference: Amyotroph Lateral Scler Frontotemporal Degener. 2020 Feb;21(1-2):5-14. doi: 10.1080/21678421.2019.1632346. Epub 2019 Jul 7.
Impact factor:
Publication type: Paper in international publication
Authors: Arnold, Vincent; Auclair, Christian; Ballario, Carlos; Chaverri, Delia; Chio, Adriano; Dominguez, Raul; Dubreuil, Patrice; Estol, Conrado J; Gamez, Josep; Genge, Angela et al.
DOI: 10.1080/21678421.2019.1632346

Reply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion".

PMID: 31845766
Journal: MOVEMENT DISORDERS
Year: 2019
Reference: Mov Disord. 2019 Dec;34(12):1932-1933. doi: 10.1002/mds.27899.
Impact factor:
Publication type: Letter or abstract
Authors: Alvarez, Victoria; Barahona-Hernando, Raul; Catalina, Irene; De la Casa-Fages, Beatriz; Fernandez-Eulate, Gorka; Fernandez-Pelayo, Uxoa; Gamez, Josep; Garcia-Barcina, Maria; Grandas, Francisco; Holt, Ian et al.
DOI: 10.1002/mds.27899

Long-term efficacy and safety of eculizumab in Japanese patients with generalized myasthenia gravis: A subgroup analysis of the REGAIN open-label extension study.

PMID: 31698177
Journal: JOURNAL OF THE NEUROLOGICAL SCIENCES
Year: 2019
Reference: J Neurol Sci. 2019 Dec 15;407:116419. doi: 10.1016/j.jns.2019.08.004. Epub 2019 Aug 3.
Impact factor:
Publication type: Paper in international publication
Authors: Acar, Nazire Pinar; Agrawal, Brajesh; Agriesti, Julie; Akhter, Salma; Akiyama, Tetsuya; Alam, Sharmeen; Alberti Aguilo, Maria Antonia; Alboini, Paolo Emilio; Alcon, Karan; Alsharabati, Mohammad et al.
DOI: 10.1016/j.jns.2019.08.004

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:
Publication type: Paper in international publication
Authors: Gamez, Josep; Garcia, Cecilia; Morales, Miguel; Salvado, Maria; Syriani, Enrique; Vidal-Taboada, Jose Manuel et al.
DOI: 10.3389/fgene.2019.01109

Does ALS-FUS without FUS mutation represent ALS-FET? Report of three cases.

PMID: 30375034
Journal: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
Year: 2019
Reference: Neuropathol Appl Neurobiol. 2019 Jun;45(4):421-426. doi: 10.1111/nan.12527. Epub 2018 Nov 20.
Impact factor:
Publication type: Paper in international publication
Authors: Aldecoa, Iban; Batlle, Jordi; Borrego-Ecija, Sergi; Cervera-Carles, Laura; Clarimon, Jordi; Cortes-Vicente, Elena; Gamez, Josep; Gelpi, Ellen; Molina-Porcel, Laura; Ricken, Gerda et al.
DOI: 10.1111/nan.12527

RNA-Seq transcriptomic profiling of primary murine microglia treated with LPS or LPS + IFNgamma.

PMID: 30382133
Journal: Scientific Reports
Year: 2018
Reference: Sci Rep. 2018 Oct 31;8(1):16096. doi: 10.1038/s41598-018-34412-9.
Impact factor:
Publication type: Paper in international publication
Authors: Barriga, Gerardo Garcia-Diaz; Pulido-Salgado, Marta; Saura, Josep; Sola, Carme; Vidal-Taboada, Jose M et al.
DOI: 10.1038/s41598-018-34412-9

Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum.

PMID: 30349865
Journal: Annals of Clinical and Translational Neurology
Year: 2018
Reference: Ann Clin Transl Neurol. 2018 Sep 21;5(10):1297-1302. doi: 10.1002/acn3.632. eCollection 2018 Oct.
Impact factor:
Publication type: Paper in international publication
Authors: Avila Polo, Rainiero; Ferrer, Isidre; Gamez, Josep; Gelpi, Ellen; Grau-Rivera, Oriol; Llado, Albert; Llorens, Franc; Nos, Carlos; Parchi, Piero; Rossi, Marcello et al.
DOI: 10.1002/acn3.632

Myasthenia gravis following alemtuzumab therapy for multiple sclerosis.

PMID: 30143565
Journal: NEUROLOGY
Year: 2018
Reference: Neurology. 2018 Sep 25;91(13):622-624. doi: 10.1212/WNL.0000000000006251. Epub 2018 Aug 24.
Impact factor:
Publication type: Paper in international publication
Authors: Caronna, Edoardo; Gratacos, Margarida; Midaglia, Luciana; Montalban, Xavier; Raguer, Nuria; Sastre-Garriga, Jaume; Tintore, Mar et al.
DOI: 10.1212/WNL.0000000000006251

Intravenous versus subcutaneous immunoglobulin - Authors' reply.

PMID: 29656738
Journal: LANCET NEUROLOGY
Year: 2018
Reference: Lancet Neurol. 2018 May;17(5):393-394. doi: 10.1016/S1474-4422(18)30109-1.
Impact factor:
Publication type: Letter or abstract
Authors: Ajroud-Driss, Senda; Akutsu, Tsugio; Alberti Aguilo, Maria Antonia; Algom, Avi; Allen, Jeffrey; Antonini, Giovanni; Attarian, Shahram; Aufauvre, Dominique; Auranen, Mari; Baba, Masayuki et al.
DOI: 10.1016/S1474-4422(18)30109-1

Bedside Ultrasound for the Diagnosis of Abnormal Diaphragmatic Motion in Children After Heart Surgery.

PMID: 27801709
Journal: Pediatric Critical Care Medicine
Year: 2017
Reference: Pediatr Crit Care Med. 2017 Feb;18(2):159-164. doi: 10.1097/PCC.0000000000001015.
Impact factor:
Publication type: Paper in international publication
Authors: Abella, Raul F; Balcells, Joan; Baust, Tracy; Castilla-Fernandez, Yolanda; Gil-Juanmiquel, Laura; Gratacos, Margarida; Perez-Hoyos, Santiago; Piqueras, Joaquim; Raguer, Nuria; Sanchez-de-Toledo, Joan et al.
DOI: 10.1097/PCC.0000000000001015

Myoclonic epilepsy in Down syndrome and Alzheimer disease.

PMID: 25661268
Journal: NEUROLOGIA
Year: 2017
Reference: Neurologia. 2017 Mar;32(2):69-73. doi: 10.1016/j.nrl.2014.12.008. Epub 2015 Feb 7.
Impact factor:
Publication type: Paper in national publication
Authors: Aller-Alvarez, J S; Alvarez-Sabin, J; Menendez-Gonzalez, M; Ribacoba-Montero, R; Salas-Puig, J; Salvado, M; Suarez-Moro, R; Sueiras, M; Toledo, M; Vega, V et al.
DOI: 10.1016/j.nrl.2014.12.008

SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement.

PMID: 28005197
Journal: NEUROGENETICS
Year: 2017
Reference: Neurogenetics. 2017 Jan;18(1):63-67. doi: 10.1007/s10048-016-0505-1. Epub 2016 Dec 22.
Impact factor:
Publication type: Paper in international publication
Authors: Gamez, Josep; Horga, Alejandro; Houlden, Henry; Manole, Andreea; Navarro, Carmen; Pittmann, Alan; Raguer, Nuria; Reilly, Mary M; Salvado, Maria; San Millan, Beatriz et al.
DOI: 10.1007/s10048-016-0505-1

ALSUntangled No. 37: Inosine.

PMID: 27575981
Journal: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Year: 2017
Reference: Amyotroph Lateral Scler Frontotemporal Degener. 2017 May;18(3-4):309-312. doi: 10.1080/21678421.2016.1223270. Epub 2016 Aug 30.
Impact factor:
Publication type: Review in international publication
Authors: Gamez, Josep et al.
DOI: 10.1080/21678421.2016.1223270

Incomplete penetrance in the spanish family with limb-girdle muscular dystrophy type 1F.

PMID: 26351998
Journal: MUSCLE & NERVE
Year: 2016
Reference: Muscle Nerve. 2016 Jan;53(1):156-7. doi: 10.1002/mus.24900. Epub 2015 Sep 23.
Impact factor:
Publication type: Paper in international publication
Authors: Gamez, Josep; Gratacos, Margarita; Salvado, Maria et al.
DOI: 10.1002/mus.24900

Lithium for treatment of amyotrophic lateral sclerosis: much ado about nothing.

PMID: 23582371
Journal: NEUROLOGIA
Year: 2016
Reference: Neurologia. 2016 Oct;31(8):550-61. doi: 10.1016/j.nrl.2013.02.001. Epub 2013 Apr 10.
Impact factor:
Publication type: Review in national publication
Authors: Badia, M; Gamez, J; Martinez de la Ossa, A; Salvado, M et al.
DOI: 10.1016/j.nrl.2013.02.001

ALSUntangled No. 35: Hyperbaric Oxygen Therapy.

PMID: 27089115
Journal: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Year: 2016
Reference: Amyotroph Lateral Scler Frontotemporal Degener. 2016 Oct - Nov;17(7-8):622-624. doi: 10.3109/21678421.2016.1172818. Epub 2016 Apr 18.
Impact factor:
Publication type: Review in international publication
Authors: Gamez, Josep et al.
DOI: 10.3109/21678421.2016.1172818

ALSUntangled No. 34: GM604.

PMID: 27043278
Journal: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Year: 2016
Reference: Amyotroph Lateral Scler Frontotemporal Degener. 2016 Oct - Nov;17(7-8):617-621. doi: 10.3109/21678421.2016.1164940. Epub 2016 Apr 4.
Impact factor:
Publication type: Review in international publication
Authors: Gamez, Josep et al.
DOI: 10.3109/21678421.2016.1164940

ALSUntangled No. 31: Protandim.

PMID: 26414415
Journal: AMYOTROPH LAT SCL FR
Year: 2015
Reference: Amyotroph Lateral Scler Frontotemporal Degener. 2015;17(1-2):154-6. doi: 10.3109/21678421.2015.1088707. Epub 2015 Sep 28.
Impact factor:
Publication type: Review in national publication
Authors: et al.
DOI: 10.3109/21678421.2015.1088707

ALSUntangled No. 30: methylcobalamin.

PMID: 26203660
Journal: AMYOTROPH LAT SCL FR
Year: 2015
Reference: Amyotroph Lateral Scler Frontotemporal Degener. 2015;16(7-8):536-9. doi: 10.3109/21678421.2015.1070574. Epub 2015 Jul 23.
Impact factor:
Publication type: Paper in international publication
Authors: Andersen, Peter; Atassi, Nazem; Baker, Jon; Baker, Yvonne; Barkhaus, Paul; Bedlack, Richard; Benatar, Michael; Bertorini, Tulio; Bowser, Robert; Boylan, Kevin et al.
DOI: 10.3109/21678421.2015.1070574

ALSUntangled No. 29: MitoQ.

PMID: 26090901
Journal: AMYOTROPH LAT SCL FR
Year: 2015
Reference: Amyotroph Lateral Scler Frontotemporal Degener. 2015;16(5-6):427-9. doi: 10.3109/21678421.2015.1050897. Epub 2015 Jun 19.
Impact factor:
Publication type: Paper in international publication
Authors: Andersen, Peter; Armon, Carmel; Atassi, Nazem; Baker, Jon; Barkhaus, Paul; Bedlack, Richard; Benatar, Michael; Bertorini, Tulio; Bowser, Robert; Boylan, Kevin et al.
DOI: 10.3109/21678421.2015.1050897

Clinicopathological Correlations and Concomitant Pathologies in Rapidly Progressive Dementia: A Brain Bank Series.

PMID: 26523804
Journal: NEURODEGENER DIS
Year: 2015
Reference: Neurodegener Dis. 2015;15(6):350-60. doi: 10.1159/000439251. Epub 2015 Oct 31.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Eulalia; Arino, Sergio; Atienza, Antonio; Batlle, Jordi; Berlanga, Begona; Bisbe, Vicenta; Blesa, Rafael; Boada, Merce; Bosch, Josep; Brieva, Luis et al.
DOI: 10.1159/000439251

ALSUntangled No. 26: lunasin.

PMID: 25245186
Journal: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Year: 2014
Reference: Amyotroph Lateral Scler Frontotemporal Degener. 2014 Dec;15(7-8):622-6. doi: 10.3109/21678421.2014.959297. Epub 2014 Sep 23.
Impact factor:
Publication type: Paper in international publication
Authors: et al.
DOI: 10.3109/21678421.2014.959297

Intravenous immunoglobulin for preparing myasthenia gravis patients for thymectomy and other surgical procedures preventing myasthenic crisis.

PMID: 25546793
Journal: CLINICAL AND EXPERIMENTAL IMMUNOLOGY
Year: 2014
Reference: Clin Exp Immunol. 2014 Dec;178 Suppl 1:134-5. doi: 10.1111/cei.12542.
Impact factor:
Publication type: Paper in international publication
Authors: Gamez, J et al.
DOI: 10.1111/cei.12542

Role of lipoprotein-associated phospholipase A activity for the prediction of silent brain infarcts in women.

PMID: 25463126
Journal: ATHEROSCLEROSIS
Year: 2014
Reference: Atherosclerosis. 2014 Dec;237(2):811-5. doi: 10.1016/j.atherosclerosis.2014.11.003. Epub 2014 Nov 10.
Impact factor:
Publication type: Paper in international publication
Authors: Delgado, Pilar; Filomena, Josefina; Jarca, Carme I; Montaner, Joan; Pelegri, Dolors; Penalba, Anna; Riba-Llena, Iolanda; Vilar, Andrea et al.
DOI: 10.1016/j.atherosclerosis.2014.11.003

ALSUntangled No. 24: Vitamin D.

PMID: 24689759
Journal: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Year: 2014
Reference: Amyotroph Lateral Scler Frontotemporal Degener. 2014 Jun;15(3-4):318-20. doi: 10.3109/21678421.2014.888871. Epub 2014 Apr 2.
Impact factor:
Publication type: Paper in international publication
Authors: Andersen, Peter; Armon, Carmel; Atassi, Nazem; Baker, Jon; Barkhaus, Paul; Bedlack, Richard; Benatar, Michael; Bertorini, Tulio; Bowser, Robert; Boylan, Kevin et al.
DOI: 10.3109/21678421.2014.888871

ALS Untangled No. 20: the Deanna protocol.

PMID: 23638638
Journal: Amyotrophic Lateral Sclerosis
Year: 2013
Reference: Amyotroph Lateral Scler Frontotemporal Degener. 2013 May;14(4):319-23. doi: 10.3109/21678421.2013.788405. Epub 2013 May 2.
Impact factor:
Publication type: Review in international publication
Authors: Andersen, Peter; Armon, Carmel; Atassi, Nazem; Baker, Jon; Barkhaus, Paul; Bedlack, Bedlack; Benatar, Michael; Bertorini, Tulio; Bowser, Robert; Boylan, Kevin et al.
DOI: 10.3109/21678421.2013.788405

Amyotrophic lateral sclerosis in Catalonia: a population based study.

PMID: 23286747
Journal: Amyotrophic Lateral Sclerosis
Year: 2013
Reference: Amyotroph Lateral Scler Frontotemporal Degener. 2013 May;14(4):278-83. doi: 10.3109/21678421.2012.749915. Epub 2013 Jan 4.
Impact factor:
Publication type: Paper in international publication
Authors: Alvarez, Ramiro; Aragones, Josep Maria; Baiges, Juan Jose; Basart, Esther; Bello, Juan; Bonaventura, Imma; Coll, Jaume; Fossas, Pilar; Gamez, Jose; Gich, Ignasi et al.
DOI: 10.3109/21678421.2012.749915

Dexpramipexole versus placebo for patients with amyotrophic lateral sclerosis (EMPOWER): a randomised, double-blind, phase 3 trial.

PMID: 24067398
Journal: LANCET NEUROLOGY
Year: 2013
Reference: Lancet Neurol. 2013 Nov;12(11):1059-67. doi: 10.1016/S1474-4422(13)70221-7. Epub 2013 Sep 23.
Impact factor:
Publication type: Paper in international publication
Authors: Archibald, Donald; Bozik, Michael E; Cudkowicz, Merit E; Dong, Yingwen; Farwell, Wildon R; Gamez, Josep; Hardiman, Orla; Ingersoll, Evan W; Kerr, Douglas A; Ludolph, Albert et al.
DOI: 10.1016/S1474-4422(13)70221-7

ALS Untangled No. 21: Fecal transplants.

PMID: 23870000
Journal: Amyotrophic Lateral Sclerosis
Year: 2013
Reference: Amyotroph Lateral Scler Frontotemporal Degener. 2013 Sep;14(5-6):482-5. doi: 10.3109/21678421.2013.814981. Epub 2013 Jul 22.
Impact factor:
Publication type: Review in international publication
Authors: Andersen, Peter; Armon, Carmel; Atassi, Nazem; Baker, Jon; Barkhaus, Paul; Bedlack, Richard; Benatar, Michael; Bertorini, Tulio; Bowser, Robert; Boylan, Kevin et al.
DOI: 10.3109/21678421.2013.814981

ALSUntangled No. 14: Mototab.

PMID: 22214359
Journal: Amyotrophic Lateral Sclerosis
Year: 2012
Reference: Amyotroph Lateral Scler. 2012 Jan;13(1):161-4.
Impact factor:
Publication type: Paper in international publication
Authors: Andersen, Peter; Armon, Carmel; Atassi, Nazem; Baker, Jon; Bedlack, Richard; Benatar, Michael; Bertorini, Tulio; Bowser, Robert; Boylan, Kevin; Caress, James et al.
DOI: 10.3109/17482968.2012.645410

Placebo effect characteristics observed in a single, international, longitudinal study in Huntington's disease.

PMID: 22162184
Journal: MOVEMENT DISORDERS
Year: 2012
Reference: Mov Disord. 2012 Mar;27(3):439-42. doi: 10.1002/mds.24062. Epub 2011 Dec 9.
Impact factor:
Publication type: Paper in international publication
Authors: Abbruzzese, G; Albanese, A; Alegre, J; Andrich, J; Arconada, Olga Fernandez; Arguillere, S; Auff, E; Autret, A; Azulay, J-P; Bachoud-Levi, A C et al.
DOI: 10.1002/mds.24062

ALS untangled No. 17: "when ALS is lyme".

PMID: 22873562
Journal: Amyotrophic Lateral Sclerosis
Year: 2012
Reference: Amyotroph Lateral Scler. 2012 Sep;13(5):487-91. Epub 2012 Aug 8.
Impact factor:
Publication type: Review in international publication
Authors: Andersen, Peter; Armon, Carmel; Atassi, Nazem; Baker, Jon; Bedlack, Richard; Benatar, Michael; Bertorini, Tulio; Bowser, Robert; Boylan, Kevin; Bromberg, Mark et al.
DOI: 10.3109/17482968.2012.717796

ALSUntangled No. 16: cannabis.

PMID: 22632446
Journal: Amyotrophic Lateral Sclerosis
Year: 2012
Reference: Amyotroph Lateral Scler. 2012 Jun;13(4):400-4. doi: 10.3109/17482968.2012.687264.
Impact factor:
Publication type: Review in national publication
Authors: Andersen, Peter; Armon, Carmel; Atassi, Nazem; Baker, Jon; Bedlack, Richard; Benatar, Michael; Bertorini, Tulio; Bowser, Robert; Boylan, Kevin; Caress, James et al.
DOI: 10.3109/17482968.2012.687264

ALSUntangled No. 10: Luteolin and Lutimax.

PMID: 21545238
Journal: Amyotrophic Lateral Sclerosis
Year: 2011
Reference: Amyotroph Lateral Scler. 2011 May;12(3):235-7.
Impact factor:
Publication type: Editorail in international publication
Authors: Andersen, Peter; Armon, Carmel; Atassi, Nazem; Baker, Jon; Bedlack, Richard; Benatar, Michael; Bowser, Robert; Boylan, Kevin; Caress, James; Conwit, Robin et al.
DOI: 10.3109/17482968.2011.578872

ALSUntangled No. 12: Dean Kraft, Energy Healer.

PMID: 21981685
Journal: Amyotrophic Lateral Sclerosis
Year: 2011
Reference: Amyotroph Lateral Scler. 2011 Sep;12(5):389-91.
Impact factor:
Publication type: Editorail in international publication
Authors: et al.
DOI: 10.3109/17482968.2011.609309

ALSUntangled 13: Bee venom.

PMID: 22023191
Journal: Amyotrophic Lateral Sclerosis
Year: 2011
Reference: Amyotroph Lateral Scler. 2011 Nov;12(6):471-2.
Impact factor:
Publication type: Paper in international publication
Authors: Andersen, Peter; Armon, Carmel; Atassi, Nazem; Baker, Jon; Bedlack, Richard; Benatar, Michael; Bertorini, Tulio; Bowser, Robert; Boylan, Kevin; Caress, James et al.
DOI: 10.3109/17482968.2011.625168

ALSUntangled No. 11: Nu Tech Mediworld.

PMID: 21702736
Journal: Amyotrophic Lateral Sclerosis
Year: 2011
Reference: Amyotroph Lateral Scler. 2011 Jul;12(4):309-11.
Impact factor:
Publication type: Paper in international publication
Authors: Andersen, Peter; Armon, Carmel; Atassi, Nazem; Baker, Jon; Bedlack, Richard; Benatar, Michael; Bertorini, Tulio; Bowser, Robert; Boylan, Kevin; Caress, James et al.
DOI: 10.3109/17482968.2011.589205

Behavioural symptoms in patients with Alzheimer's disease and their association with cognitive impairment.

PMID: 20920205
Journal: BMC Neurology
Year: 2010
Reference: BMC Neurol. 2010 Sep 28;10:87.
Impact factor:
Publication type: Paper in international publication
Authors: Abellan, J; Abellan, T; Aguado, M L; Alastuey, C; Alayon, A; Alfonso, S; Almajano, J; Alvarez, J; Andres, M; Andres, R M et al.
DOI: 10.1186/1471-2377-10-87

Does reduced [(123)I]-FP-CIT binding in Huntington's disease suggest pre-synaptic dopaminergic involvement?

PMID: 20724066
Journal: CLINICAL NEUROLOGY AND NEUROSURGERY
Year: 2010
Reference: Clin Neurol Neurosurg. 2010 Dec;112(10):870-5. Epub 2010 Aug 19.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; et al.
DOI: 10.1016/j.clineuro.2010.07.014

The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor.

PMID: 20577007
Journal: JOURNAL OF MEDICAL GENETICS
Year: 2010
Reference: J Med Genet. 2010 Sep;47(9):640-2. Epub 2010 Jun 24.
Impact factor:
Publication type: Paper in international publication
Authors: Alias, L; Also-Rallo, E; Baiget, M; Barcelo, M J; Bernal, S; Borrego, S; Fuentes-Prior, P; Gamez, J; Guillen-Navarro, E; Hernandez-Chico, C et al.
DOI: 10.1136/jmg.2010.079004

[Demyelinating lesions as incidental findings in magnetic resonance imaging: a study of 11 cases with clinico-radiological follow-up and a review of the literature]

PMID: 20645263
Journal: REVISTA DE NEUROLOGIA
Year: 2010
Reference: Rev Neurol. 2010 Aug;51(3):129-34.
Impact factor:
Publication type: Paper in national publication
Authors: Auger-Acosta, Cristina; Castillo, Joaquin; Edo, Mari Carmen; Horga-Hernandez, Alejandro; Mitjana, Raquel; Montalban, Xavier; Rio-Izquierdo, Jordi; Rovira, Alex; Sierra-Marcos, Alba; Tintore, Mar et al.
DOI:

Association between leptin receptor (LEPR) and brain-derived neurotrophic factor (BDNF) gene variants and obesity: a case-control study.

PMID: 19622243
Journal: NUTRITIONAL NEUROSCIENCE
Year: 2009
Reference: Nutr Neurosci. 2009 Aug;12(4):183-8.
Impact factor:
Publication type: Paper in international publication
Authors: Estivill, X; Gratacos, M; Maiz, A; Marti, A; Martinez, J A; Moreno-Aliaga, M J; Santos, J L et al.
DOI: 10.1179/147683009X423355

The p.E22G mutation in the Cu/Zn superoxide-dismutase gene predicts a long survival time: clinical and genetic characterization of a seven-generation ALS1 Spanish pedigree.

PMID: 19524271
Journal: JOURNAL OF THE NEUROLOGICAL SCIENCES
Year: 2009
Reference: J Neurol Sci. 2009 Oct 15;285(1-2):46-53.
Impact factor:
Publication type: Paper in international publication
Authors: Gamez, Josep; Morales, Miguel; Syriani, Enrique et al.
DOI: 10.1016/j.jns.2009.05.011

Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype?

PMID: 19027924
Journal: JOURNAL OF THE NEUROLOGICAL SCIENCES
Year: 2009
Reference: J Neurol Sci. 2009 Feb 15;277(1-2):167-71.
Impact factor:
Publication type: Paper in international publication
Authors: Armstrong, Judith; Dominguez-Oronoz, Rosa; Ferrer, Isidre; Gamez, Josep; Goldfarb, Lev; Olive, Montse; Ortega, Arantxa; Selva-O'Callaghan, Albert; Shatunov, Alexey et al.
DOI: 10.1016/j.jns.2008.10.019

TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies.

PMID: 19225410
Journal: JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
Year: 2009
Reference: J Neuropathol Exp Neurol. 2009 Mar;68(3):262-73.
Impact factor:
Publication type: Paper in international publication
Authors: Ferrer, Isidre; Gamez, Josep; Janue, Anna; Moreno, Dolores; Olive, Montse; Torrejon-Escribano, Benjamin et al.
DOI: 10.1097/NEN.0b013e3181996d8f

Thesis

Genetic risk factors in patients with Myasthenia Gravis and associated Parkinson's Disease

PhD student: Laura Zalba Jadraque
Director/s: José Manuel Vidal Taboada, Raul Juntas Morales
University: Universitat Autònoma de Barcelona
Year: 2023

Estudio de los factores genéticos que influyen en las formas familiares y esporádicas de miastenia gravis autoinmune

PhD student: Maria Salvadó Figueras
Director/s: Josep Gamez Carbonell, José Manuel Vidal Taboada
University: Universidad Autònoma de Barcelona
Year: 2020