Investigación en Esclerosis Lateral Amiotrófica (ELA) |

Publicaciones

2023

de la Hoz, CPD, Lupo, V, Bermejo-Guerrero, L, Martín-Jiménez, P, Hernández-Laín, A, Olive, M, Gallardo, E, Esteban-Pérez, J, Espinós, C, Domínguez-González, C (2023).

Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3

JOURNAL OF NEUROLOGY. Article. 271(2):986-994.
[doi:10.1007/s00415-023-12039-9]

Davidson, JM, Wu, SSL, Rayner, SL, Cheng, F, Duncan, K, Russo, C, Newbery, M, Ding, KJ, Scherer, NM, Balez, R, García-Redondo, A, Rábano, A, Rosa-Fernandes, L, Ooi, L, Williams, KL, Morsch, M, Blair, IP, Di Ieva, A, Yang, S, Chung, RS, Lee, A (2023).

The E3 Ubiquitin Ligase SCF Cyclin F Promotes Sequestosome-1/p62 Insolubility and Foci Formation and is Dysregulated in ALS and FTD Pathogenesis

MOLECULAR NEUROBIOLOGY. Article. 60(9):5034-5054.
[doi:10.1007/s12035-023-03355-2]

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 (2023).

Characterizing SOD1 mutations in Spain. The impact of genotype, age, and sex in the natural history of the disease.

EUROPEAN JOURNAL OF NEUROLOGY. Article. 30(4):861-871.
[doi:10.1111/ene.15661]

Porras, G, Ruiz, S, Maestro, I, Borrego-Hernández, D, Redondo, AG, Martínez, A, Martín-Requero, A (2023).

Functional Characterization of a Familial ALS-Associated Missense TBK1 (p-Arg573Gly) Mutation in Patient-Derived Lymphoblasts

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. Article. 24(3).
[doi:10.3390/ijms24032847]

2022

Kliest T, Van Eijk RPA, Al-Chalabi A, Albanese A, Andersen PM, Amador MDM, BrÅthen G, Brunaud-Danel V, Brylev L, Camu W, De Carvalho M, Cereda C, Cetin H, Chaverri D, Chiò A, Corcia P, Couratier P, De Marchi F, Desnuelle C, Van Es MA, Esteban J, Filosto M, GarcÍa Redondo A, Grosskreutz J, Hanemann CO, HolmØy T, HØyer H, Ingre C, Koritnik B, Kuzma-Kozakiewicz M, Lambert T, Leigh PN, Lunetta C, Mandrioli J, Mcdermott CJ, Meyer T, Mora JS, Petri S, Povedano M, Reviers E, Riva N, Roes KCB, Rubio MÁ, Salachas F, Sarafov S, SorarÙ G, Stevic Z, Svenstrup K, MØller AT, Turner MR, Van Damme P, Van Leeuwen LAG, Varona L, VÁzquez Costa JF, Weber M, Hardiman O, Van Den Berg LH (2022).

Clinical trials in pediatric ALS: a TRICALS feasibility study.

AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION. Article. 23(7-8):481-488.
[doi:10.1080/21678421.2021.2024856]

Serrano-Lorenzo, P, Rabasa, M, Esteban, J, Mayoral, IH, Dominguez-Gonzalez, C, Blanco-Echevarria, A, Garrido-Moraga, R, Lucia, A, Blazquez, A, Rubio, JC, Palma-Milla, C, Arenas, J, Martin, MA (2022).

Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)

Genes. Article. 13(10).
[doi:10.3390/genes13101835]

Glass JD, Dewan R, Ding J, Gibbs JR, Dalgard C, Keagle PJ, Shankaracharya, García-Redondo A, Traynor BJ, Chia R, Landers JE (2022).

ATXN2 intermediate expansions in amyotrophic lateral sclerosis.

BRAIN. Article. 145(8):2671-2676.
[doi:10.1093/brain/awac167]

Rayner SL, Yang S, Farrawell NE, Jagaraj CJ, Cheng F, Davidson JM, Luu L, Redondo AG, Rábano A, Borrego-Hernández D, Atkin JD, Morsch M, Blair IP, Yerbury JJ, Chung R, Lee A (2022).

TDP-43 is a ubiquitylation substrate of the SCF(cyclin F) complex.

NEUROBIOLOGY OF DISEASE. Article. 167:105673-105673.
[doi:10.1016/j.nbd.2022.105673]

Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, Lapunzina P (2022).

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.

CLINICAL GENETICS. Review. 101(5-6):481-493.
[doi:10.1111/cge.14113]

2021

Llamas-Velasco S, Arteche-López A, Méndez-Guerrero A, Puertas Martín V, Quesada Espinosa JF, Lezana Rosales JM, González-Sánchez M, Blanco-Palmero VA, Palma Milla C, Herrero-San Martín A, Borrego-Hernández D, García-Redondo A, Pérez-Martínez DA, Villarejo-Galende A (2021).

Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia.

AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION. Review. 22(7-8):1-9.
[doi:10.1080/21678421.2021.1927101]

Lastres-Becker I, Porras G, Arribas-Blázquez M, Maestro I, Borrego-Hernández D, Boya P, Cerdán S, García-Redondo A, Martínez A, Martin-Requero Á (2021).

Molecular Alterations in Sporadic and SOD1-ALS Immortalized Lymphocytes: Towards a Personalized Therapy.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. Article. 22(6).
[doi:10.3390/ijms22063007]

González-Mera L, Ravenscroft G, Cabrera-Serrano M, Ermolova N, Domínguez-González C, Arteche-López A, Soltanzadeh P, Evesson F, Navas C, Mavillard F, Clayton J, Rodrigo P, Servián-Morilla E, Cooper ST, Waddell L, Reardon K, Corbett A, Hernandez-Laín A, Sanchez A, Esteban Perez J, Paradas-Lopez C, Rivas-Infante E, Spencer M, Laing N, Olivé M (2021).

HeterozygousCAPN3missense variants causing autosomal-dominant calpainopathy in seven unrelated families

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. Article. 47(2):283-296.
[doi:10.1111/nan.12663]

2020

de Fuenmayor-Fernández de la Hoz CP, Hernandez-Lain, A, Olive, M, Arteche López A, Esteban, J, Dominguez-Gonzalez, C (2020).

SOD1 mutations in adult-onset distal spinal muscular atrophy.

EUROPEAN JOURNAL OF NEUROLOGY. Letter. 27(11):75-76.
[doi:10.1111/ene.14426]

2019

Dominguez-Gonzalez, C, Hernandez-Lain, A, Rivas, E, Hernandez-Voth, A, Sayas Catalán J, Fernandez-Torron, R, Fuiza-Luces, C, Garcia, JG, Moris, G, Olive, M, Miralles, F, Diaz-Manera, J, Caballero, C, Mendez-Ferrer, B, Marti, R, García Arumi E, Badosa, MC, Esteban, J, Jimenez-Mallebrera, C, Encinar, AB, Arenas, J, Hirano, M, Martin, MA, Paradas, C (2019).

Late-onset thymidine kinase 2 deficiency: a review of 18 cases.

ORPHANET JOURNAL OF RARE DISEASES. Review. 14(1):100-100.
[doi:10.1186/s13023-019-1071-z]

Moreno-Martínez L, de la Torre M, Toivonen JM, Zaragoza P, García-Redondo A, Calvo AC, Osta R (2019).

Circulating Cytokines Could Not Be Good Prognostic Biomarkers in a Mouse Model of Amyotrophic Lateral Sclerosis.

Frontiers in immunology. Article. 10:801-801.
[doi:10.3389/fimmu.2019.00801]

Panades-de Oliveira, L, Rodriguez-Lopez, C, Cantero Montenegro D, Marcos Toledano MDM, Fernandez-Marmiesse, A, Esteban Perez J, Hernandez Lain A, Dominguez-Gonzalez, C (2019).

Bethlem myopathy: a series of 16 patients and description of seven new associated mutations.

JOURNAL OF NEUROLOGY. Article. 266(4):934-941.
[doi:10.1007/s00415-019-09217-z]

Calvo, AC, Cibreiro, GA, Merino, PT, Roy, JF, Galiana, A, Rufian, AJ, Cano, JM, Martin, MA, Moreno, L, Larrode, P, Vazquez, PC, Galan, L, Mora, J, Muñoz-Blanco JL, Muñoz MJ, Zaragoza, P, Pegoraro, E, Soraru, G, Mora, M, Lunetta, C, Penco, S, Tarlarini, C, Esteban, J, Osta, R, Redondo, AG (2019).

Collagen XIX Alpha 1 Improves Prognosis in Amyotrophic Lateral Sclerosis.

Aging and Disease. Article. 10(2):278-292.
[doi:10.14336/AD.2018.0917]

Tazelaar GHP, Dekker AM, van Vugt JJFA, van der Spek RA, Westeneng HJ, Kool LJBG, Kenna KP, van Rheenen W, Pulit SL, McLaughlin RL, Sproviero W, Iacoangeli A, Hübers A, Brenner D, Morrison KE, Shaw PJ, Shaw CE, Panadés MP, Mora Pardina JS, Glass JD, Hardiman O, Al-Chalabi A, van Damme P, Robberecht W, Landers JE, Ludolph AC, Weishaupt JH, van den Berg LH, Veldink JH, van Es MA, Project MinE ALS Sequencing Consortium (2019).

Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort.

NEUROBIOLOGY OF AGING. Article. 74.
[doi:10.1016/j.neurobiolaging.2018.09.012]

2018

Gonzalez-Sanchez, M, Puertas-Martin, V, Esteban-Perez, J, Garcia-Redondo, A, Borrego-Hernandez, D, Mendez-Guerrero, A, Llamas-Velasco, S, Herrero-San Martin, A, Cordero-Vazquez, P, Herrero-Manso, MC, Perez-Martinez, DA, Villarejo-Galende, A (2018).

TARDBP mutation associated with semantic variant primary progressive aphasia, case report and review of the literature.

NEUROCASE. Review. 24(5-6):1-5.
[doi:10.1080/13554794.2019.1581225]

de Majo, M, Topp, SD, Smith, BN, Nishimura, AL, Chen, HJ, Gkazi, AS, Miller, J, Wong, CH, Vance, C, Baas, F, Ten Asbroek ALMA, Kenna, KP, Ticozzi, N, Redondo, AG, Esteban-Perez, J, Tiloca, C, Verde, F, Duga, S, Morrison, KE, Shaw, PJ, Kirby, J, Turner, MR, Talbot, K, Hardiman, O, Glass, JD, de Belleroche, J, Gellera, C, Ratti, A, Al-Chalabi, A, Brown, RH, Silani, V, Landers, JE, Shaw, CE (2018).

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

NEUROBIOLOGY OF AGING. Article. 71.
[doi:10.1016/j.neurobiolaging.2018.06.015]

Nicolas, A, Kenna, KP, Renton, AE, Ticozzi, N, Faghri, F, Chia, R, Dominov, JA, Kenna, BJ, Nalls, MA, Keagle, P, Rivera, AM, van Rheenen, W, Murphy, NA, van Vugt, JJFA, Geiger, JT, van der Spek, RA, Pliner, HA, Shankaracharya, Smith, BN, Marangi, G, Topp, SD, Abramzon, Y, Gkazi, AS, Eicher, JD, Kenna, A, Mora, G, Calvo, A, Mazzini, L, Riva, N, Mandrioli, J, Caponnetto, C, Battistini, S, Volanti, P, La Bella, V, Conforti, FL, Borghero, G, Messina, S, Simone, IL, Trojsi, F, Salvi, F, Logullo, FO, D'Alfonso, S, Corrado, L, Capasso, M, Ferrucci, L, Moreno, CDM, Kamalakaran, S, Goldstein, DB, Gitler, AD, Harris, T, Myers, RM, Phatnani, H, Musunuri, RL, Evani, US, Abhyankar, A, Zody, MC, Kaye, J, Finkbeiner, S, Wyman, SK, LeNail, A, Lima, L, Fraenkel, E, Svendsen, CN, Thompson, LM, Van Eyk, JE, Berry, JD, Miller, TM, Kolb, SJ, Cudkowicz, M, Baxi, E, Benatar, M, Taylor, JP, Rampersaud, E, Wu, G, Wuu, J, Lauria, G, Verde, F, Fogh, I, Tiloca, C, Comi, GP, Soraru, G, Cereda, C, Corcia, P, Laaksovirta, H, Myllykangas, L, Jansson, L, Valori, M, Ealing, J, Hamdalla, H, Rollinson, S, Pickering-Brown, S, Orrell, RW, Sidle, KC, Malaspina, A, Hardy, J, Singleton, AB, Johnson, JO, Arepalli, S, Sapp, PC, McKenna-Yasek, D, Polak, M, Asress, S, Al-Sarraj, S, King, A, Troakes, C, Vance, C, de Belleroche, J, Baas, F, ten Asbroek, ALMA, Munoz-Blanco, JL, Hernandez, DG, Ding, JH, Gibbs, JR, Scholz, SW, Floeter, MK, Campbell, RH, Landi, F, Bowser, R, Pulst, SM, Ravits, JM, MacGowan, DJL, Kirby, J, Pioro, EP, Pamphlett, R, Broach, J, Gerhard, G, Dunckley, TL, Brady, CB, Kowall, NW, Troncoso, JC, Le Ber, I, Mouzat, K, Lumbroso, S, Heiman-Patterson, TD, Kamel, F, Van Den Bosch, L, Baloh, RH, Strom, TM, Meitinger, T, Shatunov, A, Van Eijk, KR, de Carvalho, M, Kooyman, M, Middelkoop, B, Moisse, M, McLaughlin, RL, Van Es, MA, Weber, M, Boylan, KB, Van Blitterswijk, M, Rademakers, R, Morrison, KE, Basak, AN, Mora, JS, Drory, VE, Shaw, PJ, Turner, MR, Talbot, K, Hardiman, O, Williams, KL, Fifita, JA, Nicholson, GA, Blair, IP, Rouleau, GA, Esteban-Perez, J, Garcia-Redondo, A, Al-Chalabi, A, Rogaeva, E, Zinman, L, Ostrow, LW, Maragakis, NJ, Rothstein, JD, Simmons, Z, Cooper-Knock, J, Brice, A, Goutman, SA, Feldman, EL, Gibson, SB, Taroni, F, Ratti, A, Gellera, C, Van Damme, P, Robberecht, W, Fratta, P, Sabatelli, M, Lunetta, C, Ludolph, AC, Andersen, PM, Weishaupt, JH, Camu, W, Trojanowski, JQ, Van Deerlin, VM, Brown, RH, van den Berg, LH, Veldink, JH, Harms, MB, Glass, JD, Stone, DJ, Tienari, P, Silani, V, Chio, A, Shaw, CE, Traynor, BJ, Landers, JE, ITALSGEN Consortium, Genomic Translation ALS Care GTAC, ALS Sequencing Consortium, NYGC ALS Consortium, Answer ALS Fdn, Clinical Res ALS Related Disorders, SLAGEN Consortium, French ALS Consortium, Project MinE ALS Sequencing Consor (2018).

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

NEURON. Article. 97(6):1268.
[doi:10.1016/j.neuron.2018.02.027]

Dols-Icardo, O, Garcia-Redondo, A, Rojas-Garcia, R, Borrego-Hernandez, D, Illan-Gala, I, Muñoz-Blanco JL, Rabano, A, Cervera-Carles, L, Juarez-Rufian, A, Spataro, N, De Luna, N, Galan, L, Cortes-Vicente, E, Fortea, J, Blesa, R, Grau-Rivera, O, Lleo, A, Esteban-Perez, J, Gelpi, E, Clarimon, J (2018).

Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. Article. 89(2):162-168.
[doi:10.1136/jnnp-2017-316820]

Llamas-Velasco, S, Garcia-Redondo, A, Herrero-San Martin, A, Puertas Martín V, Gonzalez-Sanchez, M, Perez-Martinez, DA, Villarejo-Galende, A (2018).

Slowly progressive behavioral frontotemporal dementia with C9orf72 mutation. Case report and review of the literature

NEUROCASE. Review. 24(1):68-71.
[doi:10.1080/13554794.2018.1428353]

2017

Gasco S, Rando A, Zaragoza P, García-Redondo A, Calvo AC, Osta R (2017).

Comparative study of hematopoietic stem and progenitor cells between sexes in mice under physiological conditions along time.

CELL BIOLOGY INTERNATIONAL. Article. 41(12):1399-1405.
[doi:10.1002/cbin.10865]

Cooper-Knock J, Robins H, Niedermoser I, Wyles M, Heath PR, Higginbottom A, Walsh T, Kazoka M, Project MinE ALS Sequencing Consortium, Ince PG, Hautbergue GM, McDermott CJ, Kirby J, Shaw PJ (2017).

Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype.

Frontiers in Molecular Neuroscience. Article. 10:370-370.
[doi:10.3389/fnmol.2017.00370]

Gómez-Tortosa E, Van der Zee J, Ruggiero M, Gijselinck I, Esteban-Pérez J, García-Redondo A, Borrego-Hernández D, Navarro E, Sainz MJ, Pérez-Pérez J, Cruts M, Van Broeckhoven C, Guerrero-López R, EU EOD Consortium (2017).

Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. Letter. 88(11):996-997.
[doi:10.1136/jnnp-2016-315250]

Gasco S, Zaragoza P, García-Redondo A, Calvo AC, Osta R (2017).

Inflammatory and non-inflammatory monocytes as novel prognostic biomarkers of survival in SOD1G93A mouse model of Amyotrophic Lateral Sclerosis.

PLOS ONE. Article. 12(9).
[doi:10.1371/journal.pone.0184626]

Sivera R, Frasquet M, Lupo V, García-Sobrino T, Blanco-Arias P, Pardo J, Fernández-Torrón R, de Munain AL, Márquez-Infante C, Villarreal L, Carbonell P, Rojas-García R, Segovia S, Illa I, Frongia AL, Nascimento A, Ortez C, García-Romero MDM, Pascual SI, Pelayo-Negro AL, Berciano J, Guerrero A, Casasnovas C, Camacho A, Esteban J, Chumillas MJ, Barreiro M, Díaz C, Palau F, Vílchez JJ, Espinós C, Sevilla T (2017).

Distribution and genotype-phenotype correlation of GDAP1 mutations in; Spain

SCIENTIFIC REPORTS. Article. 7(1):6677-6677.
[doi:10.1038/s41598-017-06894-6]

Smith BN, Topp SD, Fallini C, Shibata H, Chen HJ, Troakes C, King A, Ticozzi N, Kenna KP, Soragia-Gkazi A, Miller JW, Sato A, Dias DM, Jeon M, Vance C, Wong CH, de Majo M, Kattuah W, Mitchell JC, Scotter EL, Parkin NW, Sapp PC, Nolan M, Nestor PJ, Simpson M, Weale M, Lek M, Baas F, Vianney de Jong JM, Ten Asbroek ALMA, Redondo AG, Esteban-Pérez J, Tiloca C, Verde F, Duga S, Leigh N, Pall H, Morrison KE, Al-Chalabi A, Shaw PJ, Kirby J, Turner MR, Talbot K, Hardiman O, Glass JD, De Belleroche J, Maki M, Moss SE, Miller C, Gellera C, Ratti A, Al-Sarraj S, Brown RH, Silani V, Landers JE, Shaw CE (2017).

Mutations in the vesicular trafficking protein annexin A11 are; associated with amyotrophic lateral sclerosis

SCIENCE TRANSLATIONAL MEDICINE. Article. 9(388).
[doi:10.1126/scitranslmed.aad9157]