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

Javier Joaquín Sotoca Fernández

Predoctoral researcher
Peripheral Nervous System
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José Manuel Vidal Taboada

Main researcher
Peripheral Nervous System
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Raul Juntas Morales

Head of group
Peripheral Nervous System
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Javier Joaquín Sotoca Fernández

Predoctoral researcher
Peripheral Nervous System
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José Manuel Vidal Taboada

Main researcher
Peripheral Nervous System
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Raul Juntas Morales

Head of group
Peripheral Nervous System
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Projects

Aquest any no hi ha projectes actius.

Publications

Reply to the Letter to the Editor in response to "Autoantibody levels as biomarkers of disease activity in management of myasthenia gravis: A systematic review and expert appraisal".

PMID: 36692238
Journal: EUROPEAN JOURNAL OF NEUROLOGY
Year: 2023
Reference: Eur J Neurol. 2023 Apr;30(4):1162-1164. doi: 10.1111/ene.15690. Epub 2023 Feb 14.
Impact factor:
Publication type: Letter or abstract
Authors: Baggi, Fulvio; Behin, Anthony; Crathorne, Louise; Evoli, Amelia; Holmes, Kris; Kostera-Pruszczyk, Anna; Leite, Maria-Isabel; Mantegazza, Renato; Meisel, Andreas; Morales, Raul Juntas et al.
DOI: 10.1111/ene.15690

RFC1 repeat expansions and cerebellar ataxia, neuropathy and vestibular areflexia syndrome: Experience and perspectives from a neuromuscular disorders unit.

PMID: 36753892
Journal: JOURNAL OF THE NEUROLOGICAL SCIENCES
Year: 2023
Reference: J Neurol Sci. 2023 Mar 15;446:120565. doi: 10.1016/j.jns.2023.120565. Epub 2023 Jan 28.
Impact factor:
Publication type: Paper in international publication
Authors: Alvarez, Paula Fernandez; Arumi, Elena Garcia; Gratacos, Margarida; Hernandez-Vara, Jorge; Juntas, Raul; Lainez, Elena; Llaurado, Arnau; Martinez, Victoria Gonzalez; Raguer, Nuria; Salvado, Maria et al.
DOI: 10.1016/j.jns.2023.120565

Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.

PMID: 36959467
Journal: JOURNAL OF HUMAN GENETICS
Year: 2023
Reference: J Hum Genet. 2023 Aug;68(8):527-532. doi: 10.1038/s10038-023-01144-2. Epub 2023 Mar 23.
Impact factor:
Publication type: Paper in international publication
Authors: Codina-Sola, Marta; Garcia-Arumi, Elena; Juntas-Morales, Raul; Llaurado, Arnau; Marti, Ramon; Martinez-Saez, Elena; Ramon, Javier; Restrepo-Vera, Juan Luis; Rovira-Moreno, Eulalia; Salvado, Maria et al.
DOI: 10.1038/s10038-023-01144-2

Clinical Reasoning: An 82-Year-Old Woman With Subacute Ophthalmoparesis and Ataxia.

PMID: 36990717
Journal: NEUROLOGY
Year: 2023
Reference: Neurology. 2023 Aug 1;101(5):e570-e575. doi: 10.1212/WNL.0000000000207246. Epub 2023 Mar 29.
Impact factor:
Publication type: Letter or abstract
Authors: Auger, Cristina; Baucells, Andres; Gonzalez, Victoria; Llaurado, Arnau; Rodrigo-Gisbert, Marc et al.
DOI: 10.1212/WNL.0000000000207246

Mesoporous silica particles are phagocytosed by microglia and induce a mild inflammatory response in vitro.

PMID: 35997151
Journal: Nanomedicine
Year: 2022
Reference: Nanomedicine (Lond). 2022 Jun;17(15):1077-1094. doi: 10.2217/nnm-2022-0026. Epub 2022 Aug 23.
Impact factor:
Publication type: Paper in international publication
Authors: Abrahamsson, Ninnie; Carreras-Dominguez, Paula; Feiler, Adam; Garcia-Lara, Elisa; M Vidal-Taboada, Jose; N Kozlova, Elena; Rabaneda-Lombarte, Neus; Sala-Jarque, Julia; Saura, Josep; Sola, Carme et al.
DOI: 10.2217/nnm-2022-0026

Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2.

PMID: 35955418
Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Year: 2022
Reference: Int J Mol Sci. 2022 Jul 27;23(15). pii: ijms23158289. doi: 10.3390/ijms23158289.
Impact factor:
Publication type: Paper in international publication
Authors: Alias, Laura; Aller, Elena; Bernal, Sara; Bertini, Enrico; Blasco-Perez, Laura; Boronat, Susana; Castiglioni, Claudia; Codina-Sola, Marta; Costa-Comellas, Laura; Costa-Roger, Mar et al.
DOI: 10.3390/ijms23158289

Reponse of second-line treatment in focal status epilepticus: A tertiary hospital experience.

PMID: 35907324
Journal: EPILEPSY RESEARCH
Year: 2022
Reference: Epilepsy Res. 2022 Sep;185:106988. doi: 10.1016/j.eplepsyres.2022.106988. Epub 2022 Jul 19.
Impact factor:
Publication type: Paper in international publication
Authors: Abraira, Laura; Ballve, Alejandro; Campos, Daniel; Fonseca, Elena; Giffreu, Ariadna; Llaurado, Arnau; Quintana, Manuel; Santamarina, Estevo; Toledo, Manuel et al.
DOI: 10.1016/j.eplepsyres.2022.106988

HLA-DQB105:02, 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 Aug;43(8):5057-5065. doi: 10.1007/s10072-022-06102-y. Epub 2022 May 6.
Impact factor:
Publication type: Paper in international publication
Authors: Caro, Jose Luis; Gamez, Josep; Garcia, Cecilia; Lopez, Eva; Rudilla, Francesc; Salvado, Maria; Sanjuan, Elia; Vidal-Taboada, Jose Manuel; Zalba-Jadraque, Laura et al.
DOI: 10.1007/s10072-022-06102-y

[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: 0.87
Publication type: Paper in national publication
Authors: Ballve, A, Llaurado, A, Palasi, A, Quintana, M, Lainez, E, Raguer, N, Juntas-Morales, R, Martinez-Saez, E 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. pii: S0213-4853(21)00053-0. doi: 10.1016/j.nrl.2021.02.014.
Impact factor: 3.109
Publication type: Paper in national publication
Authors: Llaurado, A, Quintana, M, Fonseca, E, Abraira, L, Toledo, M, Requena, M, Olive, M, Ballve, A, Campos, D, Sueiras, M et al.
DOI: 10.1016/j.nrl.2021.02.014

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: 4.092
Publication type: Paper in international publication
Authors: Pageot, Nicolas, Juntas-Morales, Raul, Alphandery, Sebastien, Camu, William, De La Cruz, Elisa, Esselin, Florence et al.
DOI: 10.1080/21678421.2021.1883669

Two novel ligand-independent variants of the VEGFR-1 receptor are expressed in human testis and spermatozoa, one of them with the ability to activate SRC proto-oncogene tyrosine kinases.

PMID: 31645906
Journal: Oncotarget
Year: 2019
Reference: Oncotarget. 2019 Oct 8;10(56):5871-5887. doi: 10.18632/oncotarget.27232. eCollection 2019 Oct 8.
Impact factor:
Publication type: Paper in international publication
Authors: Alvarez-Palomo, Belen; Ballesca, Josep-Lluis; Barrot-Feixat, Carme; Edel, Michael J; Mezquita-Pla, Jovita; Oliva, Rafael; Pau, Montserrat; Requena, Jordi; Sarret, Helena; Vidal-Taboada, Jose-Manuel et al.
DOI: 10.18632/oncotarget.27232

Consensus-based care recommendations for adults with myotonic dystrophy type 2.

PMID: 31583190
Journal: Neurology. Clinical practice
Year: 2019
Reference: Neurol Clin Pract. 2019 Aug;9(4):343-353. doi: 10.1212/CPJ.0000000000000645.
Impact factor:
Publication type: Review in international publication
Authors: Bassez, Guillaume; Formaker, Paul; Fossati, Barbara; Gamez, Josep; Heatwole, Chad; Hilbert, James; Kornblum, Cornelia; Kostera-Pruszczyk, Anne; Krahe, Ralf; Lusakowska, Anna et al.
DOI: 10.1212/CPJ.0000000000000645

Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.

PMID: 31433872
Journal: MOVEMENT DISORDERS
Year: 2019
Reference: Mov Disord. 2019 Oct;34(10):1547-1561. doi: 10.1002/mds.27812. Epub 2019 Aug 21.
Impact factor:
Publication type: Paper in international publication
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.27812

Intravenous immunoglobulin to prevent myasthenic crisis after thymectomy and other procedures can be omitted in patients with well-controlled myasthenia gravis.

PMID: 31360225
Journal: Therapeutic Advances in Neurological Disorders
Year: 2019
Reference: Ther Adv Neurol Disord. 2019 Jul 17;12:1756286419864497. doi: 10.1177/1756286419864497. eCollection 2019.
Impact factor:
Publication type: Paper in international publication
Authors: Carmona, Francesc; de Nadal, Miriam; Deu, Maria; Gamez, Josep; Jauregui, Alberto; Martinez, Olga; Perez, Javier; Romero, Laura; Ruiz, Daniel; Salvado, Maria et al.
DOI: 10.1177/1756286419864497

Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis.

PMID: 29972757
Journal: NEW ENGLAND JOURNAL OF MEDICINE
Year: 2018
Reference: N Engl J Med. 2018 Jul 5;379(1):22-31. doi: 10.1056/NEJMoa1716793.
Impact factor:
Publication type: Paper in international publication
Authors: Ackermann, Elizabeth J; Adams, David; Baker, Brenda F; Barroso, Fabio A; Benson, Merrill D; Berk, John L; Brannagan, Thomas H 3rd; Campistol, Josep M; Coelho, Teresa; Conceicao, Isabel et al.
DOI: 10.1056/NEJMoa1716793

Subcutaneous immunoglobulin for maintenance treatment in chronic inflammatory demyelinating polyneuropathy (PATH): a randomised, double-blind, placebo-controlled, phase 3 trial.

PMID: 29122523
Journal: LANCET NEUROLOGY
Year: 2018
Reference: Lancet Neurol. 2018 Jan;17(1):35-46. doi: 10.1016/S1474-4422(17)30378-2. Epub 2017 Nov 6.
Impact factor:
Publication type: Paper in international publication
Authors: Ajroud-Driss, S; Akutsu, T; Alberti Aguilo, M; Algom, A; Allen, J; Antonini, G; Attarian, S; Aufauvre, D; Auranen, M; Baba, M et al.
DOI: 10.1016/S1474-4422(17)30378-2

KATP Channel Expression and Genetic Polymorphisms Associated with Progression and Survival in Amyotrophic Lateral Sclerosis.

PMID: 29492846
Journal: MOLECULAR NEUROBIOLOGY
Year: 2018
Reference: Mol Neurobiol. 2018 Oct;55(10):7962-7972. doi: 10.1007/s12035-018-0970-7. Epub 2018 Feb 28.
Impact factor:
Publication type: Paper in international publication
Authors: Gamez, Josep; Mahy, Nicole; Pugliese, Marco; Rodriguez, Manuel J; Salvado, Maria; Vidal-Taboada, Jose M et al.
DOI: 10.1007/s12035-018-0970-7

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: 4.122
Publication type: Paper in international publication
Authors: Pulido-Salgado, Marta, Vidal-Taboada, Jose M, Barriga, Gerardo Garcia-Diaz, Sola, Carme, Saura, Josep et al.
DOI: 10.1038/s41598-018-34412-9

ALSUntangled No. 36: Accilion.

PMID: 27685025
Journal: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Year: 2017
Reference: Amyotroph Lateral Scler Frontotemporal Degener. 2017 Feb;18(1-2):142-147. doi: 10.1080/21678421.2016.1215400. Epub 2016 Aug 9.
Impact factor:
Publication type: Review in international publication
Authors: Gamez, Josep et al.
DOI: 10.1080/21678421.2016.1215400

ALSUntangled 38: L-serine.

PMID: 27894192
Journal: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Year: 2017
Reference: Amyotroph Lateral Scler Frontotemporal Degener. 2017 Feb;18(1-2):148-151. doi: 10.1080/21678421.2016.1250353. Epub 2016 Nov 29.
Impact factor:
Publication type: Review in international publication
Authors: Gamez, Josep et al.
DOI: 10.1080/21678421.2016.1250353

Intravenous immunoglobulin as monotherapy for myasthenia gravis during pregnancy.

PMID: 29246598
Journal: JOURNAL OF THE NEUROLOGICAL SCIENCES
Year: 2017
Reference: J Neurol Sci. 2017 Dec 15;383:118-122. doi: 10.1016/j.jns.2017.10.037. Epub 2017 Nov 6.
Impact factor:
Publication type: Paper in international publication
Authors: Casellas, Manel; Castillo, Felix; Gamez, Josep; Manrique, Susana; Salvado, Maria et al.
DOI: 10.1016/j.jns.2017.10.037

Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study.

PMID: 29066163
Journal: LANCET NEUROLOGY
Year: 2017
Reference: Lancet Neurol. 2017 Dec;16(12):976-986. doi: 10.1016/S1474-4422(17)30369-1. Epub 2017 Oct 20.
Impact factor:
Publication type: Paper in international publication
Authors: Abramov, Vladislav; Acar, Nazire Pinar; Agopian, Eliz; Agriesti, Julie; Akhter, Salma; Akiyama, Tetsuya; Alberti Aguilo, Maria; Alboini, Paolo Emilio; Alcon, Karan; Alsharabati, Mohammad et al.
DOI: 10.1016/S1474-4422(17)30369-1

ALSUntangled No. 32: Gluten-free diet.

PMID: 26473662
Journal: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Year: 2016
Reference: Amyotroph Lateral Scler Frontotemporal Degener. 2016;17(3-4):307-9. doi: 10.3109/21678421.2015.1096496. Epub 2015 Oct 16.
Impact factor:
Publication type: Review in international publication
Authors: Gamez, Josep et al.
DOI: 10.3109/21678421.2015.1096496

ALS Untangled No.33 Endotherapia.

PMID: 26808361
Journal: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Year: 2016
Reference: Amyotroph Lateral Scler Frontotemporal Degener. 2016 Jul-Aug;17(5-6):461-5. doi: 10.3109/21678421.2015.1128668. Epub 2016 Jan 25.
Impact factor:
Publication type: Review in international publication
Authors: Gamez, Josep et al.
DOI: 10.3109/21678421.2015.1128668

A coordinated transition model for patients with cystinosis: from pediatrics to adult care.

PMID: 27595514
Journal: NEFROLOGIA
Year: 2016
Reference: Nefrologia. 2016 Nov - Dec;36(6):616-630. doi: 10.1016/j.nefro.2016.05.012. Epub 2016 Aug 30.
Impact factor:
Publication type: Paper in national publication
Authors: Ariceta, Gema; Camacho, Juan Antonio; Fernandez-Obispo, Matilde; Fernandez-Polo, Aurora; Gamez, Josep; Garcia-Villoria, Judit; Guell, Ana; Lara, Enrique; Leyes, Pere; Martin-Begue, Nieves et al.
DOI: 10.1016/j.nefro.2016.05.012

Study of the prevalence of familial autoimmune myasthenia gravis in a Spanish cohort.

PMID: 26723985
Journal: JOURNAL OF THE NEUROLOGICAL SCIENCES
Year: 2016
Reference: J Neurol Sci. 2016 Jan 15;360:110-4. doi: 10.1016/j.jns.2015.11.049. Epub 2015 Nov 27.
Impact factor:
Publication type: Paper in international publication
Authors: Canela, Merce; Cazorla, Sonia; Gamez, Josep; Garcia, Cecilia; Gili, Gisela; Lorenzo, Laura; Ponseti, Jose Maria; Raguer, Nuria; Salvado, Maria et al.
DOI: 10.1016/j.jns.2015.11.049

Cystinosis in adult and adolescent patients: Recommendations for the comprehensive care of cystinosis.

PMID: 26523297
Journal: NEFROLOGIA
Year: 2015
Reference: Nefrologia. 2015;35(3):304-21.
Impact factor:
Publication type: Paper in national publication
Authors: Ariceta, Gema; Camacho, Juan Antonio; Fernandez-Obispo, Matilde; Fernandez-Polo, Aurora; Gamez, Josep; Garcia-Villoria, Judit; Guell, Ana; Lara Monteczuma, Enrique; Leyes, Pere; Martin-Begue, Nieves et al.
DOI: 10.1016/j.nefroe.2015.06.010

Autoimmune-like hepatitis during masitinib therapy in an amyotrophic lateral sclerosis patient.

PMID: 26420975
Journal: WORLD J GASTROENTERO
Year: 2015
Reference: World J Gastroenterol. 2015 Sep 28;21(36):10475-9. doi: 10.3748/wjg.v21.i36.10475.
Impact factor:
Publication type: Paper in international publication
Authors: Camacho, Jessica; Gamez, Josep; Salvado, Maria; Simon-Talero, Macarena; Vargas, Victor; Vidal, Marta et al.
DOI: 10.3748/wjg.v21.i36.10475

ALSUntangled No. 28: Acupuncture.

PMID: 25960084
Journal: AMYOTROPH LAT SCL FR
Year: 2015
Reference: Amyotroph Lateral Scler Frontotemporal Degener. 2015 Jun;16(3-4):286-9. doi: 10.3109/21678421.2015.1039240. Epub 2015 May 11.
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: 10.3109/21678421.2015.1039240

Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathies.

PMID: 26194197
Journal: J NEUROL
Year: 2015
Reference: J Neurol. 2015 Aug;262(8):1984-6. doi: 10.1007/s00415-015-7851-z. Epub 2015 Jul 21.
Impact factor:
Publication type: Paper in international publication
Authors: Cottenie, Ellen; Gamez, Josep; Horga, Alejandro; Houlden, Henry; Marquez-Infante, Celedonio; Reilly, Mary M; Rojas-Garcia, Ricard; Salvado, Maria; Tomaselli, Pedro J; Villarreal-Perez, Liliana et al.
DOI: 10.1007/s00415-015-7851-z

CX3CR1 is a modifying gene of survival and progression in amyotrophic lateral sclerosis.

PMID: 24806473
Journal: PLoS One
Year: 2014
Reference: PLoS One. 2014 May 7;9(5):e96528. doi: 10.1371/journal.pone.0096528. eCollection 2014.
Impact factor:
Publication type: Paper in international publication
Authors: Gamez, Josep; Lopez-Lopez, Alan; Mahy, Nicole; Morales, Miguel; Rodriguez, Manuel J; Salvado, Maria; Syriani, Emilio; Vidal-Taboada, Jose M et al.
DOI: 10.1371/journal.pone.0096528

ALSUntangled no. 25: ursodiol.

PMID: 24972316
Journal: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Year: 2014
Reference: Amyotroph Lateral Scler Frontotemporal Degener. 2014 Sep;15(5-6):475-8. doi: 10.3109/21678421.2014.931010. Epub 2014 Jun 27.
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: 10.3109/21678421.2014.931010

PFN1 mutations are also rare in the Catalan population with amyotrophic lateral sclerosis.

PMID: 25249294
Journal: JOURNAL OF NEUROLOGY
Year: 2014
Reference: J Neurol. 2014 Dec;261(12):2387-92. doi: 10.1007/s00415-014-7501-x. Epub 2014 Sep 24.
Impact factor:
Publication type: Paper in international publication
Authors: Cazorla, Sonia; Gamez, Josep; Lorenzo, Laura; Morales, Miguel; Salvado, Maria; Salvans, Candi; Syriani, Enrique et al.
DOI: 10.1007/s00415-014-7501-x

No need for more muscle biopsies in members of the Spanish LGMD1F family. The gene has been identified at last.

PMID: 23981253
Journal: NEUROPATHOLOGY
Year: 2014
Reference: Neuropathology. 2014 Apr;34(2):217-8. doi: 10.1111/neup.12059. Epub 2013 Aug 27.
Impact factor:
Publication type: Letter whit IF
Authors: Gamez, Josep et al.
DOI: 10.1111/neup.12059

ALSUntangled No. 22: Propofol.

PMID: 23971884
Journal: Amyotrophic Lateral Sclerosis
Year: 2013
Reference: Amyotroph Lateral Scler Frontotemporal Degener. 2013 Dec;14(7-8):640-2. doi: 10.3109/21678421.2013.826469. Epub 2013 Aug 23.
Impact factor:
Publication type: Paper in international publication
Authors: Gamez, Josep et al.
DOI: 10.3109/21678421.2013.826469

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

PMID: 23543484
Journal: BRAIN
Year: 2013
Reference: Brain. 2013 May;136(Pt 5):1508-17. doi: 10.1093/brain/awt074. Epub 2013 Mar 29.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Bonilla, Eduardo; Fernandez-Cadenas, Israel; Gamez, Josep; Garcia-Arumi, Elena; Hirano, Michio; Kubota, Akatsuki; Marti, Ramon; Melia, Maria J; Navarro, Carmen et al.
DOI: 10.1093/brain/awt074

ALSUntangled No. 19: Sodium chlorite.

PMID: 23421652
Journal: Amyotrophic Lateral Sclerosis
Year: 2013
Reference: Amyotroph Lateral Scler Frontotemporal Degener. 2013 Apr;14(3):236-8. doi: 10.3109/21678421.2013.769718. Epub 2013 Feb 19.
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: 10.3109/21678421.2013.769718

ALSUntangled no. 18: apoaequorin (Prevagen).

PMID: 23030514
Journal: Amyotrophic Lateral Sclerosis
Year: 2013
Reference: Amyotroph Lateral Scler Frontotemporal Degener. 2013 Jan;14(1):78-9. doi: 10.3109/17482968.2012.727302. Epub 2012 Oct 3.
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: 10.3109/17482968.2012.727302

Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy.

PMID: 22231868
Journal: JOURNAL OF NEUROLOGY
Year: 2012
Reference: J Neurol. 2012 Aug;259(8):1546-52. Epub 2012 Jan 10.
Impact factor:
Publication type: Paper in international publication
Authors: Gamez, Josep; Gutierrez-Rivas, Eduardo; Martorell, Loreto; Medel-Jimenez, Ramon; Tondo, Mireia et al.
DOI: 10.1007/s00415-011-6374-5

Nigrostriatal pathway dysfunction in a methanol-induced delayed dystonia-parkinsonism.

PMID: 22976778
Journal: MOVEMENT DISORDERS
Year: 2012
Reference: Mov Disord. 2012 Sep 1;27(10):1220-1. doi: 10.1002/mds.25049.
Impact factor:
Publication type: Editorail in international publication
Authors: Castell-Conesa, Joan; Cuberas-Borros, Gemma; Franquet, Elisa; Hernandez-Vara, Jorge; Lorenzo-Bosquet, Carlos; Rovira, Alex; Salvado-Figueres, Maria et al.
DOI: 10.1002/mds.25049

ALSUntangled 15: coconut Oil.

PMID: 22471904
Journal: Amyotrophic Lateral Sclerosis
Year: 2012
Reference: Amyotroph Lateral Scler. 2012 May;13(3):328-30. doi: 10.3109/17482968.2012.671629. Epub 2012 Apr 3.
Impact factor:
Publication type: Editorail 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: 10.3109/17482968.2012.671629

Screening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia.

PMID: 22903700
Journal: CLINICAL RHEUMATOLOGY
Year: 2012
Reference: Clin Rheumatol. 2012 Nov;31(11):1611-5. doi: 10.1007/s10067-012-2052-y. Epub 2012 Aug 18.
Impact factor:
Publication type: Paper in international publication
Authors: Alegre, Cayetano; Gamez, Josep; Garcia-Fructuoso, Ferran; Genoves, Jordi; Martorell, Loreto; Naudo, Montserrat; Poo, Pilar; Tondo, Mireia et al.
DOI: 10.1007/s10067-012-2052-y

Diagnosis of epileptic syndrome after a new onset seizure and its correlation at long-term follow-up: Longitudinal study of 131 patients from the emergency room.

PMID: 21783344
Journal: EPILEPSY RESEARCH
Year: 2011
Reference: Epilepsy Res. 2011 Nov;97(1-2):30-6. Epub 2011 Jul 23.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; ; et al.
DOI: 10.1016/j.eplepsyres.2011.06.013

Lipoprotein-associated phospholipase A(2) testing usefulness among patients with symptomatic intracranial atherosclerotic disease.

PMID: 21620406
Journal: ATHEROSCLEROSIS
Year: 2011
Reference: Atherosclerosis. 2011 Sep;218(1):181-7. Epub 2011 May 5.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; ; et al.
DOI: 10.1016/j.atherosclerosis.2011.04.031

ALSUntangled No. 9: Blue-green algae (Spirulina) as a treatment for ALS.

PMID: 21323493
Journal: Amyotrophic Lateral Sclerosis
Year: 2011
Reference: Amyotroph Lateral Scler. 2011 Mar;12(2):153-5.
Impact factor:
Publication type: Paper in international publication
Authors: Armon, Carmel; Atassi, Nazem; Baker, Jon; Bedlack, Richard; Benatar, Michael; Bowser, Robert; Boylan, Kevin; Caress, James; Conwit, Robin; Cudkowicz, Merit et al.
DOI: 10.3109/17482968.2011.553796

[Hemichorea-hemiballism secondary to infarction in the primary motor area: an atypical form of presentation of Moya moya syndrome.]

PMID: 21484730
Journal: REVUE NEUROLOGIQUE
Year: 2011
Reference: Rev Neurol. 2011 May 1;52(9):575-576.
Impact factor:
Publication type: Letter or abstract
Authors: ; ; ; ; et al.
DOI:

Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation.

PMID: 20621801
Journal: JOURNAL OF THE NEUROLOGICAL SCIENCES
Year: 2010
Reference: J Neurol Sci. 2010 Aug 15;295(1-2):110-3. Epub 2010 Jun 8.
Impact factor:
Publication type: Paper in international publication
Authors: Conill, Joan; Cuenca-Leon, Ester; Gratacos, Margarida; Macaya, Alfons; Raspall-Chaure, Miquel; Redecillas, Susana; Roig-Quilis, Manuel; Urbizu, Aintzane et al.
DOI: 10.1016/j.jns.2010.05.017

Cellular transplants in amyotrophic lateral sclerosis patients: an observational study.

PMID: 20586670
Journal: CYTOTHERAPY
Year: 2010
Reference: Cytotherapy. 2010 Sep;12(5):669-77.
Impact factor:
Publication type: Paper in international publication
Authors: Badia, Merce; Bori-Fortuny, Inmaculada; Burgos, Rosa; Carmona, Francesc; Ferrer-Sancho, Jaume; Gamez, Josep; Gratacos, Margarita; Marti-Beltran, Sergi; Martin-Henao, Gregorio A; Pallero-Castillo, Mercedes et al.
DOI: 10.3109/14653241003774037

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.

PMID: 20932283
Journal: BMC Neurology
Year: 2010
Reference: BMC Neurol. 2010 Oct 8;10:89. doi: 10.1186/1471-2377-10-89.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; ; et al.
DOI: 10.1186/1471-2377-10-89

Camptocormia associated with an expanded allele in the TATA box-binding protein gene.

PMID: 20310027
Journal: MOVEMENT DISORDERS
Year: 2010
Reference: Mov Disord. 2010 Jul 15;25(9):1293-5.
Impact factor:
Publication type: Letter or abstract
Authors: ; ; ; ; ; ; ; ; ; et al.
DOI: 10.1002/mds.23057

A comparison of long-term post-thymectomy outcome of anti-AChR-positive, anti-AChR-negative and anti-MuSK-positive patients with non-thymomatous myasthenia gravis.

PMID: 19063688
Journal: EXPERT OPINION ON BIOLOGICAL THERAPY
Year: 2009
Reference: Expert Opin Biol Ther. 2009 Jan;9(1):1-8.
Impact factor:
Publication type: Paper in international publication
Authors: Armengol, Manuel; Caritg, Norma; Gamez, Josep; Lopez-Cano, Manuel; Ponseti, Jose M; Vilallonga, Ramon et al.
DOI: 10.1517/14712590802588831

Peripheral Nervous System

Team

Javier Joaquín Sotoca Fernández

José Manuel Vidal Taboada

Raul Juntas Morales

Javier Joaquín Sotoca Fernández

José Manuel Vidal Taboada

Raul Juntas Morales

Projects

Publications

Reply to the Letter to the Editor in response to "Autoantibody levels as biomarkers of disease activity in management of myasthenia gravis: A systematic review and expert appraisal".

RFC1 repeat expansions and cerebellar ataxia, neuropathy and vestibular areflexia syndrome: Experience and perspectives from a neuromuscular disorders unit.

Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.

Clinical Reasoning: An 82-Year-Old Woman With Subacute Ophthalmoparesis and Ataxia.

Mesoporous silica particles are phagocytosed by microglia and induce a mild inflammatory response in vitro.

Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G&gt;C Variant in SMN2.

Reponse of second-line treatment in focal status epilepticus: A tertiary hospital experience.

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

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

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

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

Two novel ligand-independent variants of the VEGFR-1 receptor are expressed in human testis and spermatozoa, one of them with the ability to activate SRC proto-oncogene tyrosine kinases.

Consensus-based care recommendations for adults with myotonic dystrophy type 2.

Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.

Intravenous immunoglobulin to prevent myasthenic crisis after thymectomy and other procedures can be omitted in patients with well-controlled myasthenia gravis.

Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis.

Subcutaneous immunoglobulin for maintenance treatment in chronic inflammatory demyelinating polyneuropathy (PATH): a randomised, double-blind, placebo-controlled, phase 3 trial.

KATP Channel Expression and Genetic Polymorphisms Associated with Progression and Survival in Amyotrophic Lateral Sclerosis.

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

ALSUntangled No. 36: Accilion.

ALSUntangled 38: L-serine.

Intravenous immunoglobulin as monotherapy for myasthenia gravis during pregnancy.

Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study.

ALSUntangled No. 32: Gluten-free diet.

ALS Untangled No.33 Endotherapia.

A coordinated transition model for patients with cystinosis: from pediatrics to adult care.

Study of the prevalence of familial autoimmune myasthenia gravis in a Spanish cohort.

Cystinosis in adult and adolescent patients: Recommendations for the comprehensive care of cystinosis.

Autoimmune-like hepatitis during masitinib therapy in an amyotrophic lateral sclerosis patient.

ALSUntangled No. 28: Acupuncture.

Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathies.

CX3CR1 is a modifying gene of survival and progression in amyotrophic lateral sclerosis.

ALSUntangled no. 25: ursodiol.

PFN1 mutations are also rare in the Catalan population with amyotrophic lateral sclerosis.

No need for more muscle biopsies in members of the Spanish LGMD1F family. The gene has been identified at last.

ALSUntangled No. 22: Propofol.

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

ALSUntangled No. 19: Sodium chlorite.

ALSUntangled no. 18: apoaequorin (Prevagen).

Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy.

Nigrostriatal pathway dysfunction in a methanol-induced delayed dystonia-parkinsonism.

ALSUntangled 15: coconut Oil.

Screening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia.

Diagnosis of epileptic syndrome after a new onset seizure and its correlation at long-term follow-up: Longitudinal study of 131 patients from the emergency room.

Lipoprotein-associated phospholipase A(2) testing usefulness among patients with symptomatic intracranial atherosclerotic disease.

ALSUntangled No. 9: Blue-green algae (Spirulina) as a treatment for ALS.

[Hemichorea-hemiballism secondary to infarction in the primary motor area: an atypical form of presentation of Moya moya syndrome.]

Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation.

Cellular transplants in amyotrophic lateral sclerosis patients: an observational study.

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.

Camptocormia associated with an expanded allele in the TATA box-binding protein gene.

A comparison of long-term post-thymectomy outcome of anti-AChR-positive, anti-AChR-negative and anti-MuSK-positive patients with non-thymomatous myasthenia gravis.

Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2.

HLA-DQB105:02, 05:03, and *03:01 alleles as risk factors for myasthenia gravis in a Spanish cohort.