Basic and traslational publications
Torres P, Rico-Rios S, Ceron-Codorniu M, Santacreu-Vilaseca M, Seoane-Miraz D, Jad Y, Ayala V, Mariño G, Beltran M, Miralles MP, Andrés-Benito P, Fernandez-Irigoyen J, Santamaria E, López-Otín C, Soler RM, Povedano M, Ferrer I, Pamplona R, Wood MJA, Varela MA, Portero-Otin M. TDP-43 regulates LC3ylation in neural tissue through ATG4B cryptic splicing inhibition. Acta Neuropathol. 2024 Sep 21;148(1):45. doi: 10.1007/s00401-024-02780-4. PMID: 39305312.
Sala-Jarque J, Gil V, Andrés-Benito P, Martínez-Soria I, Picón-Pagès P, Hernández F, Ávila J, Lanciego JL, Nuvolone M, Aguzzi A, Gavín R, Ferrer I, Del Río JA. The cellular prion protein does not affect tau seeding and spreading of sarkosyl-insoluble fractions from Alzheimer’s disease. Sci Rep. 2024 Sep 16;14(1):21622. doi: 10.1038/s41598-024-72232-2. PMID: 39284839.
Argerich J, Garma LD, López-Cano M, Álvarez-Montoya P, Gómez-Acero L, Fernández-Dueñas V, Muñoz-Manchado AB, Aso E, Boxer A, Andrés-Benito P, Svenningsson P, Ciruela F. GPR37 processing in neurodegeneration: a potential marker for Parkinson’s Disease progression rate. NPJ Parkinsons Dis. 2024 Sep 10;10(1):172. doi: 10.1038/s41531-024-00788-x. PMID: 39256360.
Roca-Pereira S, Domínguez R, Moreno León I, Colomina MJ, Martínez Yélamos A, Martínez Yélamos S, Povedano M*, Andrés-Benito P*. Increased CXCL12, a potential CSF biomarker for differential diagnosis of amyotrophic lateral sclerosis. Brain Commun. 2024 Aug 13;6(4):fcae271. doi: 10.1093/braincomms/fcae271. PMID: 39188590. (*Corresponding author)
Jácome D, Cotrufo T, Andrés-Benito P, Lidón L, Martí E, Ferrer I, Del Río JA, Gavín R. miR-519a-3p, found to regulate cellular prion protein during Alzheimer’s disease pathogenesis, as a biomarker of asymptomatic stages. Biochim Biophys Acta Mol Basis Dis. 2024 Jun;1870(5):167187. doi: 10.1016/j.bbadis.2024.167187. Epub 2024 Apr 21. PMID: 38653354.
Andrés-Benito P*, Vázquez-Costa JF, Ñungo Garzón NC, Colomina MJ, Marco C, González L, Terrafeta C, Domínguez R, Ferrer I, Povedano M*. Neurodegeneration Biomarkers in Adult Spinal Muscular Atrophy (SMA) Patients Treated with Nusinersen. Int J Mol Sci. 2024 Mar 29;25(7):3810. doi: 10.3390/ijms25073810. PMID: 38612621. (*Corresponding author)
Pons-Espinal M, Blasco-Agell L, Fernandez-Carasa I, Andrés-Benito P, di Domenico A, Richaud-Patin Y, Baruffi V, Marruecos L, Espinosa L, Garrido A, Tolosa E, Edel MJ, Otero MJ, Mosquera JL, Ferrer I, Raya A, Consiglio A. 2024. Blocking IL-6 signaling prevents astrocyte-induced neurodegeneration in an iPSC-based model of Parkinson’s disease. JCI Insight Feb 8;9(3):e163359. doi: 10.1172/jci.insight.163359. PMID: 38329129.
Arroyo-Pereiro P, Muñoz-Vendrell A, León-Moreno I, Bau L, Matas E, Romero-Pinel L, Martínez-Yélamos A, Martínez-Yélamos S*, Andrés-Benito P*. 2023. Baseline serum neurofilament light chain levels differentiate aggressive from benign forms of relapsing-remitting multiple sclerosis: a 20-year follow-up cohort. J Neurol. Dec 12. doi: 10.1007/s00415-023-12135-w. PMID: 37760385. (*Corresponding author)
Vidal-Palencia L, Font C, Rebollada-Merino A, Santpere G, Andrés-Benito P, Ferrer I, Pumarola M. 2023. Primary Feline Tauopathy: Clinical, Morphological, Immunohistochemical, and Genetic Studies. Animals (Basel). Sep 21;13(18):2985. doi: 10.3390/ani13182985. PMID: 37760385.
Brewer MK, Torres P, Ayala V, Portero-Otin M, Pamplona R, Andrés-Benito P, Ferrer I, Guinovart J and Duran J. 2023. Glycogen accumulation modulates lifespan in a mouse model of amyotrophic lateral sclerosis. Journal of Neurochemistry. Jul 4. doi: 10.1111/jnc.15906. Online ahead of print. PMID: 37401737.
Andrés-Benito P*, Íñigo-Marco I, Brullas M, Carmona M, Del Río JA, Fernández-Irigoyen J, Santamaría E, Povedano M, Ferrer I. 2023. Proteostatic modulation in brain aging without associated Alzheimer’s disease-related pathology. Aging NY (Albany). May 13;15(9):3295-3330. doi: 10.18632/aging.204698. PMID: 37179123. (*Corresponding author)
Andrés-Benito P*, Flores A, Busquet-Areny S, Carmona M, Ausín K, Cartas-Cejudo P, Lachén-Montes M, del Rio JA, Fernández-Irigoyen J, Santamaría E, Ferrer I*. 2023. Deregulated transcription and proteostasis in adult mapt knockout mice. International Journal of Molecular Sciences (IJMS). Mar 31;24(7):6559. doi: 10.3390/ijms24076559. PMID: 37047532. (*Corresponding authors)
Obis E, Sol J, Andrés-Benito P, Martin-Gari M, Mota-Martorell N, Galo-Licona JD, Piñol-Ripoll G, Portero-Otin M, Ferrer I, Jove M, Pamplona R. 2023. Lipidomic alterations in the cerebral cortex and white matter in sporadic Alzheimer’s disease. Aging and Disease. 10.14336/AD.2023.0217. PMID: 37196109.
Ferrer I* and Andrés-Benito P*, Carmona M, Del Rio JA. 2022. Common and specific marks of different tau strains following intra-hippocampal injection of AD, PiD, and GGT inoculum in hTau transgenic mice. International Journal of Molecular Sciences (IJMS). Dec 14;23(24):15940. doi: 10.3390/ijms232415940. PMID: 36555581. (*Corresponding author)
Assialioui A, Domínguez R, Ferrer I, Andrés-Benito P*, Povedano M*. 2022. Elevated cerebrospinal fluid protein and albumin determine a poor prognosis for spinal amyotrophic lateral sclerosis. International Journal of Molecular Sciences (IJMS). 23, 11063. doi: 10.3390/ijms231911063. PMID: 36232365. (*Corresponding authors)
Torres P, Arenillas C, Ramírez-Nunez O, Fernández A, Andrés-Benito P, Encinas M, Povedano M, Ferrer I, Ayala V, Pamplona R, Portero-Otín M. 2022. The motor neuron disease mouse model hSOD1-G93A shows a non-canonical profile of senescence biomarkers. Disease Models & Mechanisms. PMID: 35916061.
Ferrer I, Andrés-Benito P, Ausín J, Cartas-Cejudo P, Lanchén-Montes M, Del Río JA, Fernández-Irigoyen J, Santamaría E. 2022. Dysregulated Protein Phosphorylation in a Mouse Model of FTLD-tau. J Neuropathol. Exp. Neurol. Jul 15;nlac062. doi: 10.1093/jnen/nlac062. PMID: 35848963.
Ferrer I, Andrés-Benito P, Ausín K, Cartas-Cejudo P, Lachén-Montes M, del Rio JA, Fernández-Irigoyen J, Santamaría E. 2022. Dysregulated brain protein phosphorylation linked to increased human tau expression: the hTau transgenic mouse model. International Journal of Molecular Sciences (IJMS). Jun 8;23(12):6427. doi: 10.3390/ijms23126427. PMID: 35742871.
Ferrer I, Andrés-Benito P, García-Esparcia P, López-González I, Valiente D, Jordán-Pirla M, Carmona M, Sala-Jarqué J, Gil V, Del río JA. 2022. Differences in tau seeding in new born and adult wild type mice. International Journal of Molecular Sciences (IJMS). 23(9), 4789; doi: 10.3390/ijms23094789. PMID: 35563179.
Mota-Martorell N, Andrés-Benito P, Martín-Gari M, Galo-Licona JD, Sol J, Torres P, Portero-Otín M, Ferrer I, Jove M, Pamplona R. 2022. Selective Brain Regional Changes in Lipid Profile with Human Aging. Age GeroScience. Feb 11. doi: 10.1007/s11357-022-00527-1. PMID: 35149960.
Rubio MA, Herrando-Grabulosa M, Velasco R, Blasco I, Povedano M, Navarro X. 2022. TDP-43 Cytoplasmic Translocation in the Skin Fibroblasts of ALS Patients. Cells. Jan 8;11(2):209. doi: 10.3390/cells11020209. PMID: 35053327.
Andrés-Benito P, Carmona M, Jordán M, Fernández-Irigoyen J, Santamaría E, del Rio JA, Ferrer I. 2022. Host tau genotype specifically designs and regulates tau seeding and spreading, and host tau transformation following intrahippocampal injection of identical tau AD inoculum. International Journal of Molecular Sciences (IJMS). Jan 10;23(2):718. doi: 10.3390/ijms23020718. PMID: 35054902.
Andrés-Benito P, Carmona M, Jordán M, Torrejón-Escribano B, del Rio JA, Ferrer I. 2021. Dysregulated protein phosphorylation as main contributor to granulovacuolar degeneration at the first stages of NFT pathology. Neurosicence. Oct 30:S0306-4522(21)00534-0. doi: 10.1016/j.neuroscience.2021.10.023. PMID: 34757172.
Ferrer I, Andrés-Benito P, Ausín K, del Rio JA, Fernández-Irigoyen J, Santamaría E. 2021. Dysregulated protein phosphorylation: a determining condition in the continuum of brain aging and Alzheimer’s disease. Brain pathology Nov;31(6):e12996. doi: 10.1111/bpa.12996. PMID: 34218486.
Andrés-Benito P, Carmona M, Yves-Douet J, Cassard H, Andreoletti O, Ferrer I. 2021. Differential astrocyte and oligodendrocyte vulnerability in murine Creutzfeldt-Jakob disease. Prion. Dec;15(1):112-120. doi: 10.1080/ 19336896.2021.1935105. PMID: 34225562.
Sol J, Jové M, Povedano M, Sproviero W, Domínguez R, Piñol-Ripoll G, Romero Guevara R, Hye A, Al-Chalabi A, Torres P, Andrés-Benito P, Area-Gómez E, Pamplona R, Ferrer I, Ayala V, Portero-Otín M. 2021. Lipidomic traits of plasma and cerebrospinal fluid in ALS correlate with disease progression. Brain Communications. Jun 26;3(3):fcab143. doi: 10.1093/braincomms/fcab143. PMID: 34396104.
Jimenez-Marin A, Diez I, Labayru G, Sistiaga A, Sepulcre J, Andrés-Benito P, Caballero MC, Ferrer I, Lopez de Munain A, Cortes JM. 2021. Transcriptional signatures of synaptic vesicle genes define myotonic dystrophy type I neurodegeneration. Neuropathology and applied neurobiology. Dec;47(7):1092-1108. doi: 10.1111/nan.12725. PMID: 33955002.
Ramirez-Nuñez O, Jové M, Torres P, Sol J, Fontdevila L, Romero-Guevara R, Ayala V, Rossi C, Boada J, Povedano M, Andrés-Benito P, Ferrer I, Pamplona R, Portero-Otín M. 2021. Nuclear lipidome is altered in amyotrophic lateral sclerosis: a preliminary study. Journal of Neurochemistry. Jul;158(2):482-499. doi: 10.1111/jnc.15373. PMID: 33905537.
Gelpi E, Aldecoa I, Lopez-Villegas D, Abellan-Vidal MT, Mercadel-Fañanas P, Fortea J, Ribosa R, Morenas E, Gomez-Anson B, Molina-Porcel L, Ximelis T, Borrego S, Antonell A, Rovelet-Lecrux A, Klotz S, Andrés-Benito P, Sanchez-Valle R, Ferrer I. 2021. Atypical astroglial pTDP-43 pathology in astroglial predominant tauopathy. Neuropathology and applied neurobiology. Dec;47(7):1109-1113. doi: 10.1111/nan.12707. PMID: 33730418.
Diaz-Lucena D, Kruse N, Thüne K, Schmitz M, Villar-Piqué A, da Cunha JE, Hermann P, López-Pérez O, Andrés-Benito P, Ladogana A, Calero M, Vidal E, Riggert J, Pineau H, Sim V, Zetterberg H, Blennow K, del Río JA , Marín-Moreno A, Espinosa JC , Torres JM, Sánchez-Valle R, Mollenhauer B, Ferrer I , Zerr I, Llorens F. 2021. TREM2 is new marker of prion pathogenesis in brain and biological fluids. Acta Neuropathologica. Jun;141(6):841-859. doi: 10.1007/s00401-021-02296-1. PMID: 33881612.
Rossi C, Fernàndez A, Torres P, Ramirez-Nuñez O, Granado-Serrano AB, Fontdevila L, Povedano M, Pamplona R, Ferrer I, Portero-Otin M. 2021. Cell Stress Induces Mislocalization of Transcription Factors with Mitochondrial Enrichment. Int J Mol Sci. Aug 17;22(16):8853. doi: 10.3390/ijms22168853. PMID: 34445555.
PuigDomench-Poch M, Matínez-Muriana A, Andrés-Benito P, Ferrer I, Chun J, Lopez Vales R. 2021. Involvement of lysophosphatidic acid receptor type 2 in the physiopathology of amyotrophic lateral sclerosis. Frontiers in cellular neuroscience. doi: 10.3389/fncel.2021.600872. PMID: 33841099.
Guijarro IM, Garcés M, Andrés-Benito P, Marín B, Otero A, Barrio T, Carmona M, Ferrer I, Badiola JJ, Monzón M. 2021. Neuroimmune response mediated by cytokines in natural scrapie after chronic dexamethasone treatment. Biomolecules. Feb 2;11(2):204. doi: 10.3390/biom11020204. PMID: 33540568.
Ferrer I, Andrés-Benito P, Carmona M, Assialioui A, Povedano M. 2021. TDP-43 vasculopathy in the spinal cord in sporadic amyotrophic lateral sclerosis (sALS) and frontal cortex in sALS/FTLD-TDP. J Neuropathol. Exp. Neurol. Feb 22;80(3):229-239. doi: 10.1093/jnen/nlaa162. PMID: 33421065.
Andrés-Benito P, Gelpi E, Jové M, Mota-Martorell N, Obis E, Portero-Otin M, Povedano M, Pujol A, Pamplona R, Ferrer I. 2021. Lipid alterations in human frontal cortex in ALS-FTLD-TDP43 proteinopathy spectrum are partially related to peroxisome impairment. Neuropathology and applied neurobiology. Jun;47(4):544-563. doi: 10.1111/nan.12681. PMID: 33332650.
Andrés-Benito P*, Povedano M, Domínguez R, Marco C, Colomina MJ, López-Pérez O, Santana I, Baldeiras I, Martínez-Yelámos S, Zerr I, Llorens F, Fernández-Irigoyen J, Santamaría E, Ferrer I. 2020. Increased C-X-C motif chemokine ligand 12 levels as a good diagnostic biomarker in sporadic amyotrophic lateral sclerosis. International Journal of Molecular Sciences (IJMS). Nov 17; 21(22):8680. doi: 10.3390/ijms21228680. PMID: 33213069. (*Corresponding author)
Santpere G, Telford M, Andrés-Benito P, Navarro A, Ferrer I. 2020. The presence of Human Herpesvirus 6 in the brain in health and disease. Biomolecules Nov 6;10(11):E1520. doi: 10.3390/biom10111520. PMID: 33172107.
Lachén-Montes M, Mendizuri N, Ausin K, Andrés-Benito P, Ferrer I, Fernandez-Irigoyen J, Santamaría E. 2020. Amyotrophic Lateral Sclerosis is accompanied by protein derangements in the olfactory bulb-tract axis. International Journal of Molecular Sciences (IJMS). Nov 5;21(21):E8311. doi: 10.3390/ijms21218311. PMID: 33167591.
Ferrer I, Andrés-Benito P, Sala-Jarque J, Gil V, del Río JA. 2020. Capacity for seeding and spreading of argyrophilic grain disease in a wild-type murine model: comparisons with primary age-related tauopathy. Frontiers in Molecular Neuroscience. doi: 10.3389/fnmol.2020.00101. PMID: 32670019.
Aso E, Andrés-Benito P, Grau-Escolano J, Caltana L, Brusco A, Sanz P, Ferrer I. 2020. Cannabidiol-enriched extract reduced the cognitive impairment but not the epileptic seizures of a Lafora’s disease animal model. Cannabis and Cannabinoid Research. 27Jun 5;5(2):150-163. doi: 10.1089/can.2019.0005. PMID: 32656347.
Guijarro IM, Garcés M, Andrés-Benito P, Marín B, Otero A, Barrio T, Carmona M, Ferrer I, Badiola JJ, Monzón M. 2020. Assessment of host immune response in the progress of natural Scrapie after chronic dexamethasone treatment. International Journal of Molecular Sciences (IJMS). May 2; 21(9). pii: E3231. doi: 10.3390/ijms21093231. PMID: 32370224.
Ferrer I and Andrés-Benito P. 2020. White matter alterations in Alzheimer’s disease without concomitant pathologies. Neuropathology and Applied Neurobiology. Apr 7. doi: 10.1111/nan.12618. PMID: 32255227.
Martínez-González L, Rodríguez-Cueto C, Cabezudo D, Bartolomé F, Andrés-Benito P, Ferrer I, Gil C, Martin-Requero A, Fernández-Ruiz J, Martínez A, de Lago E. 2020. Motor neuron preservation and decrease of in vivo TDP-43 phosphorylation by protein CK-1δ kinase inhibitor treatment. Scientific Reports. Mar 10; 10(1):4449. doi: 10.1038/s41598-020-61265-y. PMID: 32157143.
Torres P, Andrés-Benito P, Fernandez-Bernal A, Ricart M, Ayala V, Pamplona R, Ferrer I and Portero-Otin M. 2020. Selected cryptic exons accumulate in hippocampal cell nuclei in Alzheimer’s disease with and without associated TDP-43 proteinopathy. Brain Mar 1;143(3):e20. doi: 10.1093/brain/awaa013. PMID: 32016361.
Ferrer I, Andrés-Benito P, Zelaya MV, Carmona M, Ausín K, Lachén-Montes M, Fernández-Irigoyen J, Santamaría E, del Rio JA. 2020. Familial globular glial tauopathy linked to MAPT mutations: molecular neuropathology and seeding capacity of a prototypical mixed neuronal and glial tauopathy. Acta Neuropathologica. Apr;139(4):735-771. doi: 10.1007/s00401-019-02122-9. PMID: 31907603.
Pesini A, Iglesias E, Bayona-Bafaluy MP, Garrido-Pérez N, Meade P, Gaudó P, Jiménez-Salvador I, Andrés-Benito P, Montoya J, Ferrer I, Pesini P, Ruiz-Pesini E. 2019. Brain pyrimidine nucleotide synthesis and Alzheimer disease. Aging (Albany NY). Sep 27;11(19):8433-8462. doi: 10.18632/aging.102328. PMID: 31560653.
Ferrer I, Zelaya MV, Aguiló García M, Carmona M, López-González I, Andrés-Benito P, Lidón L, Gavín R, Garcia-Esparcia P, Del Rio JA. 2019. Relevance of host tau in tau seeding and spreading in tauopathies. Brain pathology. Mar;30(2):298-318. doi: 10.1111/bpa.12778. PMID: 31397930.
Ferrer I, Aguiló García M, Carmona M, Andrés-Benito P, Torrejón-Escribano B, Garcia-Esparcia P, Del Rio JA. 2019. Involvement of oligodendrocytes in tau seeding and spreading in tauopathies. Front. Aging Neurosci. May 28;11:112. doi: 10.3389/fnagi.2019.00112. PMID: 31191295.
González-Fernández C, González P, Andrés-Benito P, Ferrer I, Rodríguez FJ. 2019. Wnt signaling alterations in the human spinal cord of ALS cases: spotlight on Fz2, Fz5 and Wnt5a. Mol. Neurobiology. Mar 28. Oct; 56(10): 6777-6791. doi: 10.1007/s12035-019-1547-9. PMID: 30924074.
Andrés-Benito P, Povedano M, Torres P, Portero M, Ferrer I. 2019. Altered Dynein Axonemal Assembly Factor 1 expression in spinal cord motor neurons in sporadic amyotrophic lateral sclerosis. J Neuropathol. Exp. Neurol. May 1; 78(5): 416-425. doi: 10.1093/jnen/nlz019. PMID: 30939186.
Andrés-Benito P, Gelpi E, Povedano M, Ausín K, Fernández-Irigoyen J, Santamaría E, Ferrer I. 2019. Combined transcriptomics and proteomics in frontal cortex area 8 in frontotemporal lobar degeneration linked to C9ORF72 expansion. J Alzheimers Dis. Feb; 68(3): 1287-1307. doi: 10.3233/JAD-181123. PMID: 30909235.
Andrés-Benito P, Domínguez R, Colomina MJ, Llorens F, Povedano M, Ferrer I. 2018. YKL40 in sporadic amyotrophic lateral sclerosis: cerebrospinal fluid levels as a prognosis marker of disease progression. Aging (Albany NY) Sep 13; 10(9): 2367-2382. doi: 10.18632/aging.101551. PMID: 30215603.
Aso E, Andrés-Benito P, Ferrer I. 2018. Genetic deletion of CB1 cannabinoid receptors exacerbates the Alzheimer-like symptoms in a transgenic animal model. Biochem Pharmacol. Nov; 157: 210-216. doi: 10.1016/j.bcp.2018.08.007. PMID: 30096288.
Andrés-Benito P, Domínguez-González M, Ferrer I. 2018. Altered gene transcription in astrocytes and oligodendrocytes in frontal cortex in Creutzfeldt-Jakob disease MM1 and VV2. Prion. 12(3-4): 216-225. doi: 10.1080/19336896.2018.1500076.
Silva-Abreu M, Calpena AC, Andrés-Benito P, Aso E, Roig D, Espina M, García ML, Ferrer I, Romero IA, Male D. 2018. PPARɣ agonist-loaded PLGA-PEG nanocarriers as a potential treatment for Alzheimer’s disease: in vitro and in vivo studies. Int J Nanomedicine. Sep 20; 13: 5577-5590. doi: 10.2147/IJN.S171490. PMID: 30271148.
Andrés-Benito P, Delgado-Morales R, Ferrer I. 2018. Altered regulation of KIAA0566, and katanin signalling expression in the locus coeruleus with neurofibrillary tangle pathology. Front. Cell Neurosci. 12:131. doi: 10.3389/fncel.2018.00131. PMID: 29867364.
Torres P, Ramírez-Núñez O, Romero-Guevara R, Barés G, Granado-Serrano AB, Ayala V, Boada J, Fontdevila L, Povedano M, Sanchís D, Pamplona R, Ferrer I, Portero-Otín M. 2018. Cryptic exon splicing function of TARDBP interacts with autophagy in nervous tissue. Autophagy. Jul 28;14(8):1398-1403. doi: 10.1080/15548627.2018.1474311. PMID: 29912613.
Andrés-Benito P, Gelpi E, Povedano M, Santpere G, Ferrer I. 2018. Gene expression profile in frontal cortex in sporadic frontotemporal lobar degeneration-TDP. J Neuropathol. Exp. Neurol. Jul 1;77(7): 608–627. doi: 10.1093/jnen/nly037. PMID: 29788265.
Santpere G and Garcia-Esparcia P, Andres-Benito P, Lorente-Galdós B, Navarro A, Ferrer I. 2018. Transcriptional network analysis in frontal cortex in Lewy body diseases with focus on dementia with Lewy bodies. Brain Pathol. May; 28(3): 315-333. doi: 10.1111/bpa.12511. PMID: 28321951.
Andrés-Benito P, Moreno J, Domínguez R, Aso E, Povedano M, Ferrer I. 2017. Inflammatory gene expression in whole peripheral blood at early stages of sporadic amyotrophic lateral sclerosis. Front Neurol. Oct 13, 8: 546. doi: 10.3389/fneur.2017.00546. PMID: 29081763.
Llorens F and Thüne K and Andrés-Benito P, Tahir W, Ansoleaga B, Hernández-Ortega K, Martí E, Zerr I, Ferrer I. 2017. MicroRNA expression in the locus coeruleus, entorhinal cortex, and hippocampus at early and middle stages of Braak neurofibrillary tangle pathology. J. Mol. Neurosci. 6 Sept. Oct; 63(2): 206-215. doi: 10.1007/s12031-017-0971-4. PMID: 28871468.
Andrés-Benito P, Moreno J, Aso E, Povedano M, Ferrer I. 2017. Amyotrophic lateral sclerosis, gene deregulation in the anterior horn of the spinal cord and frontal cortex area 8: implications in frontotemporal lobar degeneration. Aging (Albany NY) Mar 9; 9(3): 823-851. doi: 10.18632/aging.101195. PMDI: 28283675
Andrés-Benito P, Fernández-Dueñas V, Carmona M, Escobar LA, Torrejón B, Aso E, Ciruela F, Ferrer I. 2017. Locus coeruleus at asymptomatic early and middle Braak stages of neurofibrillary tangle pathology. Neuropathology and Applied Neurobiology. Jan 24. 43(5): 373-392. doi: 10.1111/nan.12386. PMID: 28117912.
Aso E, Andrés-Benito P, Ferrer I. 2016. Delineating the efficacy of a cannabis-based medicine at advanced stages of dementia in a murine model. J Alzheimers Dis. Aug 10; 54(1):1-10. doi: 10.3233/JAD-160533. PMID: 27567873.
Aso E, Andrés-Benito P, Carmona M, Moreno J, Maldonado R, Ferrer I. 2016. Cannabinoid receptor 2 participates in Aβ processing in a mouse model of Alzheimer’s disease but plays a minor role in the therapeutic properties of a cannabis-based medicine. J Alzheimers Dis. Feb 6; 51(2): 489-500. doi: 10.3233/JAD-150913. PMID: 26890764
Cacabelos D, Ramírez-Núñez O, Granado-Serrano AB, Torres P, Ayala V, Moiseeva V, Povedano M, Ferrer I, Pamplona R, Portero-Otin M, Boada J. 2016. Early and gender-specific differences in spinal cord mitochondrial function and oxidative stress markers in a mouse model of ALS. Acta Neuropathol Commun. Jan 13;4:3. doi: 10.1186/s40478-015-0271-6. PMID: 26757991.
Clinical publications
García-Parra B, Guiu JM, Povedano M, Mariño EL, Modamio P. Geographical distribution of clinical trials in amyotrophic lateral sclerosis: a scoping review. Amyotroph Lateral Scler Frontotemporal Degener. 2024 May;25(3-4):376-381. doi: 10.1080/21678421.2024.2320881. Epub 2024 Feb 23. PMID: 38393299.
Marriott H, Spargo TP, Al Khleifat A, Andersen PM, Başak NA, Cooper-Knock J, Corcia P, Couratier P, de Carvalho M, Drory V, Gotkine M, Landers JE, McLaughlin R, Pardina JSM, Morrison KE, Pinto S, Shaw CE, Shaw PJ, Silani V, Ticozzi N, van Damme P, van den Berg LH, Vourc’h P, Weber M, Veldink JH; Project MinE ALS Sequencing Consortium; Dobson RJ, Schwab P, Al-Chalabi A, Iacoangeli A. Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS. Ann Clin Transl Neurol. 2024 Jul;11(7):1775-1786. doi: 10.1002/acn3.52083. Epub 2024 May 22. PMID: 38775181.
García-Parra B, Guiu JM, Povedano M, Modamio P. A scoping review of the role of managed entry agreements in upcoming drugs for amyotrophic lateral sclerosis: learning from the case of spinal muscular atrophy. Amyotroph Lateral Scler Frontotemporal Degener. 2024 Sep 10:1-10. doi: 10.1080/21678421.2024.2400522. Epub ahead of print. PMID: 39254482.
Vélez-Gómez B, Perna A, Vázquez C, Ketzoian C, Lillo P, Godoy-Reyes G, Sáez D, Zaldivar Vaillant T, Gutiérrez Gil JV, Lara-Fernández GE, Povedano M, Heverin M, McFarlane R, Logroscino G, Hardiman O. 2024. LAENALS: epidemiological and clinical features of amyotrophic lateral sclerosis in Latin America. Amyotroph Lateral Scler Frontotemporal Degener. 2024 Feb;25(1-2):119-127. doi: 10.1080/21678421.2023.2271517. PMID: 37865869.
Rebollo P, García-López S, Povedano M, Cattinari MG, Martínez-Moreno M, Terrancle Á, Cabello-Moruno R, Vázquez-Costa JF. 2024. Design and Validation of a Clinical Outcome Measure for Adolescents and Adult Patients with Spinal Muscular Atrophy: SMA Life Study Protocol. Neurol Ther. Feb;13(1):233-249. doi: 10.1007/s40120-023-00571-9. Jan 5. PMID: 38180726.
Carbayo Á, Borrego-Écija S, Turon-Sans J, Cortés-Vicente E, Molina-Porcel L, Gascón-Bayarri J, Rubio MÁ, Povedano M, Gámez J, Sotoca J, Juntas-Morales R, Almendrote M, Marquié M, Sánchez-Valle R, Illán-Gala I, Dols-Icardo O, Rubio-Guerra S, Bernal S, Caballero-Ávila M, Vesperinas A, Gelpi E, Rojas-García R. 2024. Clinicopathological correlates in frontotemporal lobar degeneration: motor neuron disease spectrum. Brain. Jan 16:awae011. doi: 10.1093/brain/awae011. Epub ahead of print. PMID: 38227807.
Melka D, Demisse H, Assefa H, Zenebe Y, A Ayele B, Awraris M, Gelan Y, Kifelew S, Fedlu M, Tsehayneh F, Zebenigus M, Alemayehu S, Tesfaye H, Gulelat H, Guta T, Tafesse A, Bekele N, Saez M, Veldink JH, Al-Chalabi A, Povedano M, Al Khleifat A. 2023. Epidemiological and clinical profile of amyotrophic lateral sclerosis in Ethiopia: a 5-year multicenter retrospective study. Amyotroph Lateral Scler Frontotemporal Degener. Jul 26:1-9. doi: 10.1080/21678421.2023.2238016. Epub ahead of print. PMID: 37496277.
Lombardo-Del Toro P, Bragado-Trigo I, Arroyo P, Tena-Cucala R, Bau L, Matas E, Muñoz-Vendrell A, Simó M, Pons-Escoda A, Martínez-Yélamos A, Martínez-Yélamos S, Romero-Pinel L. 2023. Fingolimod-associated progressive multifocal leukoencephalopathy in a multiple sclerosis patient with a good response to filgrastim. J Neurol. Jul 17. doi: 10.1007/s00415-023-11865-1. PMID: 37460853.
Naval-Baudin P, Pons-Escoda A, Camins À, Arroyo P, Viveros M, Castell J, Cos M, Martínez-Yélamos A, Martínez-Yélamos S, Majós C. 2023. Deeply 3D-T1-TFE hypointense voxels are characteristic of phase-rim lesions in multiple sclerosis. Eur Radiol. Jun 6. doi: 10.1007/s00330-023-09784-w. PMID: 37278854.
Muñoz-Vendrell A, Arroyo-Pereiro P, León I, Bau L, Matas E, Martínez-Yélamos A, Martínez-Yélamos S, Romero-Pinel L. 2023. Natalizumab continuation versus switching to ocrelizumab after PML risk stratification in RRMS patients: a natural experiment. J Neurol. May;270(5):2559-2566. doi: 10.1007/s00415-023-11645-x. PMID: 36913038.
Sarasate M, González N, Córdoba-Izquierdo A, Prats E, Gonzalez-Moro JMR, Martí S, Lujan M, Calle M, Antón A, Povedano M, Farrero E. 2023. Impact of Early Non-Invasive Ventilation in Amyotrophic Lateral Sclerosis: A multicenter Randomized Controlled Trial. J Neuromuscul Dis; 10(4):627-637. doi: 10.3233/JND-221658. PMID: 37212068.
Muñoz-Vendrell A, Tena-Cucala R, Campoy S, García-Parra B, Prat J, Martínez-Yélamos S, Huerta-Villanueva M. 2023. Oral lacosamide for the treatment of refractory trigeminal neuralgia: A retrospective analysis of 86 cases. Headache. Apr;63(4):559-564. doi: 10.1111/head.14505. PMID: 37036126.
Lleixà C, Caballero-Ávila M, Pascual-Goñi E, Martín-Aguilar L, Vidal N, Tejada C, Valdés-Hevia E, Zárate E, Vesperinas A, Collet R, Franco-Leyva T, Martínez-Martínez L, Moga E, Cortés-Vicente E, Rojas-García R, Gómez-Anson B, Gil A, González-Mingot C, Brieva L, Martínez-Yélamos S, Querol L. 2023. Antibodies against the flotillin-1/2 complex in patients with multiple sclerosis. Brain Commun. Apr 4;5(2):fcad109. doi: 10.1093/braincomms/fcad109. PMID: 37091585.
Van Daele SH, Moisse M, van Vugt JJFA, Zwamborn RAJ, van der Spek R, van Rheenen W, Van Eijk K, Kenna K, Corcia P, Vourc’h P, Couratier P, Hardiman O, McLaughin R, Gotkine M, Drory V, Ticozzi N, Silani V, Ratti A, de Carvalho M, Mora Pardina JS, Povedano M, Andersen PM, Weber M, Başak NA, Shaw C, Shaw PJ, Morrison KE, Landers JE, Glass JD, van Es M, van den Berg LH, Al-Chalabi A, Veldink J, Van Damme P. 2023. Genetic variability in sporadic amyotrophic lateral sclerosis. Brain. Apr 12:awad120. doi: 10.1093/brain/awad120. PMID: 37043475.
Romero-Gangonells E, Virgili-Casas MN, Povedano M, Barceló MA. 2023. Clinical and demographical characteristics in a cohort of MND patients treated with riluzole. Differences between tablets and oral suspension. Amyotroph Lateral Scler Frontotemporal Degener. Aug;24(5-6):369-382. doi: 10.1080/21678421.2023.2192247. PMID: 37009997.
Tena A, Clarià F, Solsona F, Povedano M. 2023. Voiceprint and machine learning models for early detection of bulbar dysfunction in ALS. Comput Methods Programs Biomed. Feb;229:107309. doi: 10.1016/j.cmpb.2022.107309. PMID: 36549252.
Mora T, Domínguez R, Assialioui A, Paipa A, Moreno R, Corbella X, Martínez-Yelamos A, Povedano M. 2023. Direct health costs of amyotrophic lateral sclerosis in a multidisciplinary ALS unit in Catalonia (Spain). Amyotroph Lateral Scler Frontotemporal Degener. Feb;24(1-2):133-138. doi: 10.1080/21678421.2022.2080560. PMID: 35670332.
Arroyo-Pereiro P, Muñoz-Vendrell A, Bau L, Matas E, Romero-Pinel L, Martínez-Yélamos A, Martínez-Yélamos S. 2023. Influence of Cardiovascular Risk Factors in Early Relapsing-Remitting Multiple Sclerosis: A Retrospective Analysis. Eur Neurol. ;86(1):73-77. doi: 10.1159/000527673. PMID: 36470228.
Romero-Pinel L, Bau L, Matas E, León I, Muñoz-Vendrell A, Arroyo P, Masuet-Aumatell C, Martínez-Yélamos A, Martínez-Yélamos S. 2022. The age at onset of relapsing-remitting multiple sclerosis has increased over the last five decades. Mult Scler Relat Disord. Dec;68:104103. doi: 10.1016/j.msard.2022.104103. PMID: 36029708.
Vázquez-Costa JF, Borrego-Hernández D, Paradas C, Gómez-Caravaca MT, Rojas-Garcia R, Varona L, Povedano M, García-Sobrino T, Jericó Pascual I, Gutiérrez A, Riancho J, Turon-Sans J, Assialioui A, Pérez-Tur J, Sevilla T, Esteban Pérez J, García-Redondo A; ALSGESCO. 2022. Characterizing SOD1 mutations in Spain. The impact of genotype, age, and sex in the natural history of the disease. Eur J Neurol. Dec 9. doi: 10.1111/ene.15661. PMID: 36484631.
Willemse SW, Roes KCB, Van Damme P, Hardiman O, Ingre C, Povedano M, Wray NR, Gijzen M, de Pagter MS, Demaegd KC, Janse AFC, Vink RG, Sleutjes BTHM, Chiò A, Corcia P, Reviers E, Al-Chalabi A, Kiernan MC, van den Berg LH, van Es MA, van Eijk RPA. 2022. Lithium carbonate in amyotrophic lateral sclerosis patients homozygous for the C-allele at SNP rs12608932 in UNC13A: protocol for a confirmatory, randomized, group-sequential, event-driven, double-blind, placebo-controlled trial. Trials. Dec 5;23(1):978. doi: 10.1186/s13063-022-06906-5. PMID: 36471413.
Vázquez-Costa JF, Branas-Pampillón M, Medina-Cantillo J, Povedano M, Pitarch-Castellano I, López-Lobato M, Fernández-Ramos JA, Lafuente-Hidalgo M, Rojas-García R, Caballero-Caballero JM, Málaga I, Eirís-Puñal J, De Lemus M, Cattinari MG, Cabello-Moruno R, Díaz-Abós P, Sánchez-Menéndez V, Rebollo P, Maurino J, Madruga-Garrido M. 2022. Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study. Neurol Ther. Feb;12(1):89-105. doi: 10.1007/s40120-022-00411-2. PMID: 36269538.
Mehta PR, Iacoangeli A, Opie-Martin S, van Vugt JJFA, Al Khleifat A, Bredin A, Ossher L, Andersen PM, Hardiman O, Mehta AR, Fratta P, Talbot K; Project MinE ALS Sequencing Consortium; Al-Chalabi A. 2022. The impact of age on genetic testing decisions in amyotrophic lateral sclerosis. Brain. Dec 19;145(12):4440-4447. doi: 10.1093/brain/awac279. PMID: 36162820.
Vázquez-Costa JF, Povedano M, Nascimiento-Osorio AE, Moreno Escribano A, Kapetanovic Garcia S, Dominguez R, Exposito JM, González L, Marco C, Medina Castillo J, Muelas N, Natera de Benito D, Ñungo Garzón NC, Pitarch Castellano I, Sevilla T, Hervás D. 2022. Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy. Eur J Neurol. Dec; 29(12):3666-3675. doi: 10.1111/ene.15542. PMID: 36047967.
Vázquez-Costa JF, Martínez-Moreno M, Madruga-Garrido M, Munell F, Nascimento A, Pitarch-Castellano I, Pascual-Pascual SI, Povedano M, Cattinari MG. 2022. Treatment of spinal muscular atrophy in European countries: A call to action. Eur J Neurol. 2022 Nov;29(11):3475-3477. doi: 10.1111/ene.15522. PMID: 35971869.
Blasco-Pérez L, Costa-Roger M, Leno-Colorado J, Bernal S, Alias L, Codina-Solà M, Martínez-Cruz D, Castiglioni C, Bertini E, Travaglini L, Millán JM, Aller E, Sotoca J, Juntas R, Hoei-Hansen CE, Moreno-Escribano A, Guillén-Navarro E, Costa-Comellas L, Munell F, Boronat S, Rojas-García R, Povedano M, Cuscó I, Tizzano EF. 2022. Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2. Int J Mol Sci. 2022 Jul 27;23(15):8289. doi: 10.3390/ijms23158289. PMID: 35955418.
Vázquez-Costa JF, Povedano M, Nascimiento-Osorio AE, Moreno Escribano A, Kapetanovic Garcia S, Dominguez R, Exposito JM, González L, Marco C, Medina Castillo J, Muelas N, Natera de Benito D, Ñungo Garzón NC, Pitarch Castellano I, Sevilla T, Hervás D. 2022. Nusinersen in adult patients with 5q spinal muscular atrophy: A multicenter observational cohorts’ study. Eur J Neurol. Nov;29(11):3337-3346. doi: 10.1111/ene.15501. PMID: 35872571.
Romero-Pinel L, Bau L, Matas E, León I, Juvany R, Jódar R, Martínez-Yélamos A, Martínez-Yélamos S. 2022. Cost associated with a relapse-free patient in multiple sclerosis: A real-world health indicator. PLoS One. Apr 29;17(4):e0267504. doi: 10.1371/journal.pone.0267504. PMID: 35486620.
Hop PJ, Zwamborn RAJ, Hannon E, Shireby GL, Nabais MF, Walker EM, van Rheenen W, van Vugt JJFA, Dekker AM, Westeneng HJ, Tazelaar GHP, van Eijk KR, Moisse M, Baird D, Al Khleifat A, Iacoangeli A, Ticozzi N, Ratti A, Cooper-Knock J, Morrison KE, Shaw PJ, Basak AN, Chiò A, Calvo A, Moglia C, Canosa A, Brunetti M, Grassano M, Gotkine M, Lerner Y, Zabari M, Vourc’h P, Corcia P, Couratier P, Mora Pardina JS, Salas T, Dion P, Ross JP, Henderson RD, Mathers S, McCombe PA, Needham M, Nicholson G, Rowe DB, Pamphlett R, Mather KA, Sachdev PS, Furlong S, Garton FC, Henders AK, Lin T, Ngo ST, Steyn FJ, Wallace L, Williams KL; BIOS Consortium; Brain MEND Consortium; Neto MM, Cauchi RJ, Blair IP, Kiernan MC, Drory V, Povedano M, de Carvalho M, Pinto S, Weber M, Rouleau GA, Silani V, Landers JE, Shaw CE, Andersen PM, McRae AF, van Es MA, Pasterkamp RJ, Wray NR, McLaughlin RL, Hardiman O, Kenna KP, Tsai E, Runz H, Al-Chalabi A, van den Berg LH, Van Damme P, Mill J, Veldink JH. 2022. Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS. Sci Transl Med. 23;14(633):eabj0264. doi: 10.1126/scitranslmed.abj0264. Epub 2022 Feb 23. PMID: 35196023.
Tena A, Clarià F, Solsona F, Povedano M. 2022. Detecting Bulbar Involvement in Patients with Amyotrophic Lateral Sclerosis Based on Phonatory and Time-Frequency Features. Sensors (Basel); 22(3):1137. doi: 10.3390/s22031137. PMID: 35161881.
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D’Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc’h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel M, Cichon S, Nöthen MM, Amouyel P; SLALOM Consortium; PARALS Consortium; SLAGEN Consortium; SLAP Consortium; Traynor BJ, Singleton AB, Mitne Neto M, Cauchi RJ, Ophoff RA, Wiedau-Pazos M, Lomen-Hoerth C, van Deerlin VM, Grosskreutz J, Roediger A, Gaur N, Jörk A, Barthel T, Theele E, Ilse B, Stubendorff B, Witte OW, Steinbach R, Hübner CA, Graff C, Brylev L, Fominykh V, Demeshonok V, Ataulina A, Rogelj B, Koritnik B, Zidar J, Ravnik-Glavač M, Glavač D, Stević Z, Drory V, Povedano M, Blair IP, Kiernan MC, Benyamin B, Henderson RD, Furlong S, Mathers S, McCombe PA, Needham M, Ngo ST, Nicholson GA, Pamphlett R, Rowe DB, Steyn FJ, Williams KL, Mather KA, Sachdev PS, Henders AK, Wallace L, de Carvalho M, Pinto S, Petri S, Weber M, Rouleau GA, Silani V, Curtis CJ, Breen G, Glass JD, Brown RH Jr, Landers JE, Shaw CE, Andersen PM, Groen EJN, van Es MA, Pasterkamp RJ, Fan D, Garton FC, McRae AF, Davey Smith G, Gaunt TR, Eberle MA, Mill J, McLaughlin RL, Hardiman O, Kenna KP, Wray NR, Tsai E, Runz H, Franke L, Al-Chalabi A, Van Damme P, van den Berg LH, Veldink JH. 2022. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nat Genet. 53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. PMID: 34873335.
Povedano M, Paipa A, Barceló M, Woodward MK, Ortega S, Domínguez R, Aragonés ME, Horrillo R, Costa M, Páez A. 2022. Plasma exchange with albumin replacement and disease progression in amyotrophic lateral sclerosis: a pilot study. Neurol Sci. 43(5):3211-3221. doi: 10.1007/s10072-021-05723-z. PMID: 34791571.
Barceló MA, Povedano M, Vázquez-Costa JF, Franquet Á, Solans M, Saez M. 2021. Estimation of the prevalence and incidence of motor neuron diseases in two Spanish regions: Catalonia and Valencia. Sci Rep. Mar 18;11(1):6207. doi: 10.1038/s41598-021-85395-z. PMID: 33737526.
Tena A, Claria F, Solsona F, Meister E, Povedano M. 2021. Detection of Bulbar Involvement in Patients With Amyotrophic Lateral Sclerosis by Machine Learning Voice Analysis: Diagnostic Decision Support Development Study. JMIR Med Inform. Mar 10;9(3):e21331. doi: 10.2196/21331. PMID: 33688838.
van Eijk RPA, Kliest T, McDermott CJ, Roes KCB, Van Damme P, Chio A, Weber M, Ingre C, Corcia P, Povedano M, Reviers E, van Es MA, Al-Chalabi A, Hardiman O, van den Berg LH. TRICALS: creating a highway toward a cure. 2020. Amyotroph Lateral Scler Frontotemporal Degener. Nov;21(7-8):496-501. doi: 10.1080/21678421.2020.1788092. PMID: 32643415.
Povedano M, Saez M, Martínez-Matos JA, Barceló MA. 2018. Spatial Assessment of the Association between Long-Term Exposure to Environmental Factors and the Occurrence of Amyotrophic Lateral Sclerosis in Catalonia, Spain: A Population-Based Nested Case-Control Study. Neuroepidemiology. May 31;51(1-2):33-49. doi: 10.1159/000489664. PMID: 29852480.
Turon-Sans J, Gascon-Bayarri J, Reñé R, Rico I, Gámez C, Paipa A, Povedano M. 2016. Cognitive impairment in ALS patients and validation of the Spanish version of the ALS-CBS test. Amyotroph Lateral Scler Frontotemporal Degener. Jan 4; 17(3-4):221-7. doi: 10.3109/21678421.2015.1125500. PMID: 26726932.