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Peripheral Nervous System

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.

Projects

Aquest any no hi ha projectes actius.

Publications

Distinctive gastrointestinal motor dysfunction in patients with MNGIE.

PMID: 37448106
Journal: NEUROGASTROENTEROLOGY AND MOTILITY
Year: 2023
Reference: Neurogastroenterol Motil. 2023 Jul 13:e14643. doi: 10.1111/nmo.14643.
Impact factor:
Publication type: Paper in international publication
Authors: Accarino, Anna; Alcala-Gonzalez, Luis G; Azpiroz, Fernando; Llaurado, Arnau; Malagelada, Carolina; Ramon, Ramon; Ramon, Ramon; Sanchez-Tejerina, Daniel et al.
DOI: 10.1111/nmo.14643

Dynamic Changes in miRNA Expression during the Generation of Expanded and Activated NK Cells.

PMID: 37686362
Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Year: 2023
Reference: Int J Mol Sci. 2023 Aug 31;24(17):13556. doi: 10.3390/ijms241713556.
Impact factor:
Publication type: Paper in international publication
Authors: Anel, Alberto; Gao, Fei; Mozas, M feminine Pilar; Ovelleiro, David; Ovelleiro, David; Reina-Ortiz, Chantal; Villalba, Martin et al.
DOI: 10.3390/ijms241713556

Implications of starting antiepileptic treatment prior to electroencephalography in first epileptic seizures.

PMID: 37858895
Journal: Neurologia
Year: 2023
Reference: Neurologia (Engl Ed). 2023 Oct 17:S2173-5808(23)00054-8. doi: 10.1016/j.nrleng.2021.02.010.
Impact factor:
Publication type: Paper in international publication
Authors: Abraira, L; Ballve, A; Campos, D; Costa E Silva, Matheus; Dienstmann, Rodrigo; Fonseca, E; Gil Ferreira, Carlos; Llaurado, A; Lopes David, Bruna Bianca; Nazareth Aguiar Junior, Pedro et al.
DOI: 10.1016/j.nrleng.2021.02.010

Multi-ancestry meta-analysis of tobacco use disorder prioritizes novel candidate risk genes and reveals associations with numerous health outcomes.

PMID: 37034728
Journal:
Year: 2023
Reference: medRxiv. 2023 Sep 18:2023.03.27.23287713. doi: 10.1101/2023.03.27.23287713. Preprint.
Impact factor:
Publication type: Other (letters to the editor, abstracts, corrigendum, etc.)
Authors: Abraira, L; Ballve, A; Batzler, Anthony; Bianchi, Sevim B; Biernacka, Joanna M; Campos, D; Coombes, Brandon J; Cox, Nancy J; Davis, Lea K; Ehinmowo, Michael et al.
DOI: 10.1101/2023.03.27.23287713

[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:
Publication type: Review in national publication
Authors: Juntas-Morales, R; Llaurado, A; Salvado, M; Sanchez-Tejerina, D; Sotoca, J; Vidal-Taboada, J M 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:
Publication type: Paper in international publication
Authors: Compta, Yaroslau; Ezquerra, Mario; Fernandez-Santiago, Ruben; Marti, Maria Jose; Rabaneda-Lombarte, Neus; Saura, Josep; Sola, Carme; Valente, Tony; Vidal-Taboada, Jose Manuel et al.
DOI: 10.1038/s41531-022-00290-2

Post-COVID-19 persistent headache: A multicentric 9-months follow-up study of 905 patients.

PMID: 35166156
Journal: CEPHALALGIA
Year: 2022
Reference: Cephalalgia. 2022 Jul;42(8):804-809. doi: 10.1177/03331024211068074. Epub 2022 Feb 15.
Impact factor:
Publication type: Paper in international publication
Authors: Ballve, Alejandro; Caronna, Edoardo; Cornejo, Ana; de Lorenzo, Inigo; Diaz-de-Teran, Javier; Gago-Veiga, Ana Beatriz; Gallardo, Victor J; Garcia-Azorin, David; Gonzalez-Garcia, Nuria; Gonzalez-Martinez, Alicia et al.
DOI: 10.1177/03331024211068074

Post-COVID-19 persistent headache: A multicentric 9-months follow-up study of 905 patients.

PMID: 35166156
Journal: CEPHALALGIA
Year: 2022
Reference: Cephalalgia. 2022 Jul;42(8):804-809. doi: 10.1177/03331024211068074. Epub 2022 Feb 15.
Impact factor: 6.295
Publication type: Paper in international publication
Authors: Pozo-Rosich, Patricia; de Lorenzo, Inigo; Garcia-Azorin, David; Layos-Romero, Almudena; Porta-Etessam, Jesus; Membrilla, Javier A; Caronna, Edoardo; Gonzalez-Martinez, Alicia; Mencia, Alvaro Sierra; Segura, Tomas et al.
DOI: 10.1177/03331024211068074

Transthyretin stabilization activity of the catechol-O-methyltransferase inhibitor tolcapone (SOM0226) in hereditary ATTR amyloidosis patients and asymptomatic carriers: proof-of-concept study().

PMID: 31119947
Journal: AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
Year: 2019
Reference: Amyloid. 2019 Jun;26(2):74-84. doi: 10.1080/13506129.2019.1597702. Epub 2019 May 23.
Impact factor:
Publication type: Paper in international publication
Authors: Casasnovas, Carles; Gamez, Josep; Insa, Raul; Reig, Nuria; Rojas-Garcia, Ricard; Salvado, Maria; Sune, Pilar et al.
DOI: 10.1080/13506129.2019.1597702

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.

PMID: 31081514
Journal: BRAIN
Year: 2019
Reference: Brain. 2019 Jun 1;142(6):1547-1560. doi: 10.1093/brain/awz107.
Impact factor:
Publication type: Paper in international publication
Authors: Banka, Siddharth; Beeson, David; Carr, Aisling; Chow, Gabriel; Conti Reed, Umbertina; Cossins, Judith; De Goede, Christian; de Paula Estephan, Eduardo; Dusl, Marina; Fraser, Harry et al.
DOI: 10.1093/brain/awz107

Long-term safety and efficacy of eculizumab in generalized myasthenia gravis.

PMID: 30767274
Journal: MUSCLE & NERVE
Year: 2019
Reference: Muscle Nerve. 2019 Jul;60(1):14-24. doi: 10.1002/mus.26447. Epub 2019 Mar 8.
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: 10.1002/mus.26447

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

Thymectomy for non-thymomatous myasthenia gravis: the end of controversy, albeit fifty years late

PMID: NOPMID
Journal: Journal of XiangYa Medicine
Year: 2017
Reference: J Xiangya Med 2017;2:4
Impact factor:
Publication type: Editorail in international publication
Authors: Gamez Carbonell, Josep; Ponseti Bosch, Jose Maria et al.
DOI:

Identification and characterization of the novel point mutation m.3634A>G in the mitochondrial MT-ND1 gene associated with LHON syndrome.

PMID: 27613247
Journal: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
Year: 2017
Reference: Biochim Biophys Acta. 2017 Jan;1863(1):182-187. doi: 10.1016/j.bbadis.2016.09.002. Epub 2016 Sep 7.
Impact factor:
Publication type: Paper in international publication
Authors: Aller-Alvarez, Juan Sebastian; Alvarez de la Campa, Elena; Camara, Yolanda; Carreno-Gago, Lidia; de la Cruz, Xavier; Galan, Alicia; Gamez, Josep; Garcia-Arumi, Elena; Moncho, Dulce; Pinos, Tomas et al.
DOI: 10.1016/j.bbadis.2016.09.002

Influence of early neurological complications on clinical outcome following lung transplant.

PMID: 28301586
Journal: PLoS One
Year: 2017
Reference: PLoS One. 2017 Mar 16;12(3):e0174092. doi: 10.1371/journal.pone.0174092. eCollection 2017.
Impact factor:
Publication type: Paper in international publication
Authors: Canela, Merce; Carmona, Francesc; Deu, Maria; Gamez, Josep; Laborda, Cesar; Martinez-de La Ossa, Alejandro; Nadal, Miriam; Raguer, Nuria; Rochera, Isabel; Roman, Antonio et al.
DOI: 10.1371/journal.pone.0174092

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

UNC13A confers risk for sporadic ALS and influences survival in a Spanish cohort.

PMID: 26162714
Journal: J NEUROL
Year: 2015
Reference: J Neurol. 2015 Oct;262(10):2285-92. doi: 10.1007/s00415-015-7843-z. Epub 2015 Jul 11.
Impact factor:
Publication type: Paper in international publication
Authors: Gamez, Josep; Garcia, Cecilia; Lopez-Lopez, Alan; Lorenzo, Laura; Mahy, Nicole; Rodriguez, Manuel J; Salvado, Maria; Vidal-Taboada, Jose Manuel et al.
DOI: 10.1007/s00415-015-7843-z

ALSUntangled: Introducing The Table of Evidence.

PMID: 25544643
Journal: AN ACAD BRAS CIENC
Year: 2015
Reference: Amyotroph Lateral Scler Frontotemporal Degener. 2015 Mar;16(1-2):142-5. doi: 10.3109/21678421.2014.987476. Epub 2014 Dec 27.
Impact factor:
Publication type: Paper in international publication
Authors: Gamez Carbonell, Josep et al.
DOI: 10.3109/21678421.2014.987476

Brain Microdialysis as a Tool To Explore the Ionic Profile of the Brain Extracellular Space in Neurocritical Patients: A Methodological Approach and Feasibility Study.

PMID: 25019674
Journal: J NEUROTRAUM
Year: 2015
Reference: J Neurotrauma. 2015 Jan 1;32(1):7-16. doi: 10.1089/neu.2014.3473.
Impact factor:
Publication type: Paper in international publication
Authors: Manrique, Susana; Martinez-Valverde, Tamara; Montoya, Noelia; Munar, Francisca; Pellegri, Maria-Dolors; Poca, Maria-Antonia; Sahuquillo, Juan; Sanchez-Guerrero, Angela; Vidal-Jorge, Marian et al.
DOI: 10.1089/neu.2014.3473

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

Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies.

PMID: 24332166
Journal: NEUROMUSCULAR DISORDERS
Year: 2014
Reference: Neuromuscul Disord. 2014 Mar;24(3):227-40. doi: 10.1016/j.nmd.2013.11.001. Epub 2013 Nov 15.
Impact factor:
Publication type: Paper in international publication
Authors: Ashizawa, Tetsuo; Bachinski, Linda L; Baggerly, Keith A; Bassez, Guillaume; Eymard, Bruno; Gamez, Josep; Krahe, Ralf; Mendell, Jerry R; Nagarajan, Lalitha; Neubauer, Valerie L et al.
DOI: 10.1016/j.nmd.2013.11.001

Progressive Presynaptic Dopaminergic Deterioration in Huntington Disease: A [123I]-FP-CIT SPECT Two-Year Follow-Up Study.

PMID: 23531734
Journal: CLINICAL NUCLEAR MEDICINE
Year: 2014
Reference: Clin Nucl Med. 2014 Mar;39(3):e227-8. doi: 10.1097/RLU.0b013e31828162cd.
Impact factor:
Publication type: Paper in international publication
Authors: Badia, Mercedes; Badia, Mercedes; Carmona, Francesc; Castell-Conesa, Joan; Castillo, Joaquin; Cuberas-Borros, Gemma; de Fabregues, Oriol; Gamez, Josep; Hernandez-Vara, Jorge; Lorenzo-Bosquet, Carles et al.
DOI: 10.1097/RLU.0b013e31828162cd

[Livedo reticularis secondary to amantadine in a patient with Parkinson disease.]

PMID: 24012443
Journal: MEDICINA CLINICA
Year: 2014
Reference: Med Clin (Barc). 2014 Feb 20;142(4):186. doi: 10.1016/j.medcli.2013.06.022. Epub 2013 Sep 6.
Impact factor:
Publication type: Paper in national publication
Authors: Hernandez-Vara, Jorge; Salvado, Maria et al.
DOI: 10.1016/j.medcli.2013.06.022

SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.

PMID: 22571692
Journal: CLINICAL GENETICS
Year: 2013
Reference: Clin Genet. 2013 Mar;83(3):257-62. doi: 10.1111/j.1399-0004.2012.01896.x. Epub 2012 May 21.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; ; et al.
DOI: 10.1111/j.1399-0004.2012.01896.x

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

Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia.

PMID: 23483706
Journal: HUMAN MUTATION
Year: 2013
Reference: Hum Mutat. 2013 Jun;34(6):860-3. doi: 10.1002/humu.22309. Epub 2013 Apr 5.
Impact factor:
Publication type: Paper in international publication
Authors: Altmuller, Janine; Alvarez, Victoria; Beetz, Christian; Fadel, Hicham; Gamez, Josep; Garbern, James Y; Gonzalez, Michael; Nurnberg, Gudrun; Nurnberg, Peter; Rudenskaia, Galina et al.
DOI: 10.1002/humu.22309

Brainstem dysgenesis during the neonatal period: diagnosis and management.

PMID: 23348216
Journal: JOURNAL OF PERINATAL MEDICINE
Year: 2013
Reference: J Perinat Med. 2013 Jul;41(4):445-53. doi: 10.1515/jpm-2012-0261.
Impact factor:
Publication type: Paper in international publication
Authors: Boix, Hector; Castilla-Fernandez, Yolanda; Gratacos, Margarida; Macaya, Alfons; Roig-Quilis, Manuel; Vazquez, Elida et al.
DOI: 10.1515/jpm-2012-0261

Lipoprotein-Associated Phospholipase A(2) Activity Is Associated with Large-Artery Atherosclerotic Etiology and Recurrent Stroke in TIA Patients.

PMID: 22178747
Journal: CEREBROVASCULAR DISEASES
Year: 2012
Reference: Cerebrovasc Dis. 2012;33(2):150-8. Epub 2011 Dec 14.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; ; et al.
DOI: 10.1159/000334193

Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia.

PMID: 21725714
Journal: JOURNAL OF NEUROLOGY
Year: 2012
Reference: J Neurol. 2012 Feb;259(2):246-50. Epub 2011 Jul 2.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; ; et al.
DOI: 10.1007/s00415-011-6155-1

Diabetes is the main factor accounting for hypomagnesemia in obese subjects.

PMID: 22291997
Journal: PLoS One
Year: 2012
Reference: PLoS One. 2012;7(1):e30599. Epub 2012 Jan 24.
Impact factor:
Publication type: Paper in international publication
Authors: Baena-Fustegueras, Juan Antonio; Fort, Jose Manuel; Hernandez, Cristina; Lecube, Albert; Pelegri, Dolors; Simo, Rafael et al.
DOI: 10.1371/journal.pone.0030599

Temporal profile and prognostic value of Lp-PLA2 mass and activity in the acute stroke setting.

PMID: 22153151
Journal: ATHEROSCLEROSIS
Year: 2012
Reference: Atherosclerosis. 2012 Feb;220(2):532-6. Epub 2011 Nov 19.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; et al.
DOI: 10.1016/j.atherosclerosis.2011.11.016

FUS/TLS gene mutations are the second most frequent cause of familial ALS in the Spanish population.

PMID: 21128870
Journal: Amyotrophic Lateral Sclerosis
Year: 2011
Reference: Amyotroph Lateral Scler. 2011 Mar;12(2):118-23. Epub 2010 Dec 6.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; et al.
DOI: 10.3109/17482968.2010.539235

I112M SOD1 mutation causes ALS with rapid progression and reduced penetrance in four Mediterranean families.

PMID: 20515426
Journal: Amyotrophic Lateral Sclerosis
Year: 2011
Reference: Amyotroph Lateral Scler. 2011 Jan;12(1):70-5. Epub 2010 Jun 2.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; ; et al.
DOI: 10.3109/17482968.2010.487906

Bilaterally symmetric form of Hirayama disease.

PMID: 20101042
Journal: NEUROLOGY
Year: 2010
Reference: Neurology. 2010 Jan 26;74(4):345; author reply 345-6.
Impact factor:
Publication type: Letter or abstract
Authors: Gamez, Josep; Pradhan, Sunil et al.
DOI: 10.1212/WNL.0b013e3181c77849