Publications
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Schlüter, A, Vélez-Santamaría, V, Verdura, E, Rodríguez-Palmero, A, Ruiz, M, Fourcade, S, Planas-Serra, L, Launay, N, Guilera, C, Martínez, JJ, Homedes-Pedret, C, Albertí-Aguiló, MA, Zulaika, M, Marti, I, Troncoso, M, Tomás-Vila, M, Bullich, G, García-Pérez, MA, Sobrido-Gómez, MJ, López-Laso, E, Fons, C, Del Toro, M, Macaya, A, Beltran, S, Gutiérrez-Solana, LG, Pérez-Jurado, LA, Aguilera-Albesa, S, de Munain, AL, Casasnovas, C, Pujol, A and HSP Ataxia Workgrp.
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
Genome Medicine 15(1):
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Martinez-Piñeiro, A, Lucente, G, Hernandez-Perez, M, Cortés, J, Arbex, A, de la Ossa, NP, Ramos-Fransí, A, Almendrote, M, Millán, M, Gomis, M, Dorado, L, Castaño, C, Remollo, S, Cuadras, P, Garrido, A, Guanyabens, N, Broto, J, López-Cancio, E, Coll-Canti, J and Dávalos, A.
Prognostic Accuracy of N20 Somatosensory Potential in Patients With Acute Ischemic Stroke and Endovascular Thrombectomy
Stroke-Vascular And Interventional Neurology 3(5):
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Launay, N, Ruiz, M, Planas-Serra, L, Verdura, E, Rodríguez-Palmero, A, Schlüter, A, Goicoechea, L, Guilera, C, Casas, J, Campelo, F, Jouanguy, E, Casanova, JL, Boespflug-Tanguy, O, Cancela, MV, Gutiérrez-Solana, LG, Casasnovas, C, Area-Gomez, E and Pujol, A.
RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia
Journal of Clinical Investigation 133(14):
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Rovira-Remisa, MM, Moreira, M, Ventura, PS, Gonzalez-Alvarez, P, Mestres, N, Torres, FG, Joaquín, C, Seuma, ARP, Martínez-Colls, MD, Roche, A, Ibáñez-Micó, S, López-Laso, E, Méndez-Hernández, MJ, Murillo, M, Monlleó-Neila, L, Maqueda-Castellote, E, Riera, MD, Felipe-Rucían, A, Giralt-López, M and Cortès-Saladelafont, E.
Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases
Molecular Genetics and Metabolism Reports 35:
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Cortes-Saladelafont, E, Fernandez-Martin, J and Ortolano, S.
Fabry Disease and Central Nervous System Involvement: From Big to Small, from Brain to Synapse
International Journal of Molecular Sciences 24(6):
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Mutze, U, Gleich, F, Baric, I, Baumgartner, M, Burlina, A, Chapman, KA, Chien, YH, Cortes-Saladelafont, E, De Laet, C, Dobbelaere, D, Eysken, F, Gautschi, M, Santer, R, Haberle, J, Joaquin, C, Karall, D, Lindner, M, Lund, AM, Muhlhausen, C, Murphy, E, Roland, D, Gomez, AR, Skouma, A, Grunert, SC, Wagenmakers, M, Garbade, SF, Kolker, S and Boy, N.
Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium
Journal of Inherited Metabolic Disease 46(2): 220-231
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Villarreal-Salazar, M., Santalla, A., Real-Martinez, A., Nogales-Gadea, G., Valenzuela, P. L., Fiuza-Luces, C., Andreu, A. L., Rodriguez-Aguilera, J. C., Martin, M. A., Arenas, J., Vissing, J., Lucia, A., Krag, T. O. and Pinos, T..
Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?
Molecular Metabolism 66:
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Verdura, E, Senger, B, Raspall-Chaure, M, Schluter, A, Launay, N, Ruiz, M, Casasnovas, C, Rodriguez-Palmero, A, Macaya, A, Becker, HD and Pujol, A.
Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence
Journal of Medical Genetics 59(12): 1227-1233
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Alfonsi, C, Stephan-Otto, C, Cortes-Saladelafont, E, Palacios, NJ, Podzamczer-Valls, I, Cruz, NG, Jimenez, MRD, Mico, SI, Vila, MT, Jeltsch, K, Hubschmann, OK, Opladen, T, Fragua, RV, Gomez, T, Fortuny, OA, Jimenez, IG, Laso, EL, Martinez, AR, Lopez, JM and Garcia-Cazorla, A.
Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders
Neuroradiology 64(11): 2179-2190
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Garcia-Puga, M, Saenz-Antonanzas, A, Gerenu, G, Arrieta-Legorburu, A, Fernandez-Torron, R, Zulaica, M, Saenz, A, Elizazu, J, Nogales-Gadea, G, Gadalla, SM, Arauzo-Bravo, MJ, de Munain, AL and Matheu, A.
Senescence plays a role in myotonic dystrophy type 1 br
JCI insight 7(19):
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Hubschmann, OK, Julia-Palacios, NA, Olivella, M, Guder, P, Zafeiriou, DI, Horvath, G, Kulhanek, J, Pearson, TS, Kuster, A, Cortes-Saladelafont, E, Ibanez, S, Garcia-Jimenez, MC, Honzik, T, Santer, R, Jeltsch, K, Garbade, SF, Hoffmann, GF, Opladen, T and Garcia-Cazorla, A.
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia
Annals of Neurology 92(2): 292-303
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Davalos, V, Garcia-Prieto, CA, Ferrer, G, Aguilera-Albesa, S, Valencia-Ramos, J, Rodriguez-Palmero, A, Ruiz, M, Planas-Serra, L, Jordan, I, Alegria, I, Flores-Perez, P, Cantarin, V, Fumado, V, Viadero, MT, Rodrigo, C, Mendez-Hernandez, M, Lopez-Granados, E, Colobran, R, Riviere, JG, Soler-Palacin, P, Pujol, A and Esteller, M.
Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective study
EClinicalMedicine 50:
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Santalla, A, Valenzuela, PL, Rodriguez-Lopez, C, Rodriguez-Gomez, I, Nogales-Gadea, G, Pinos, T, Arenas, J, Martin, MA, Santos-Lozano, A, Moran, M, Fiuza-Luces, C, Ara, I and Lucia, A.
Long-Term Exercise Intervention in Patients with McArdle Disease: Clinical and Aerobic Fitness Benefits
MEDICINE & SCIENCE IN SPORTS & EXERCISE 54(8): 1231-1241
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Julia-Palacios, N, Molina-Anguita, C, Bondarenko, MS, Cortes-Saladelafont, E, Aparicio, J, Cuadras, D, Horvath, G, Fons, C, Artuch, R and Garcia-Cazorla, A.
Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy
Developmental Medicine and Child Neurology 64(7): 915-923
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Koehorst, E, Odria, R, Capo, J, Nunez-Manchon, J, Arbex, A, Almendrote, M, Linares-Pardo, I, Natera-de Benito, D, Saez, V, Nascimento, A, Ortez, C, Rubio, MA, Diaz-Manera, J, Alonso-Perez, J, Lucente, G, Rodriguez-Palmero, A, Ramos-Fransi, A, Martinez-Pineiro, A, Nogales-Gadea, G and Suelves, M.
An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation
Biomedicines 10(6):
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Garcia-Consuegra, I, Asensio-Pena, S, Garrido-Moraga, R, Pinos, T, Dominguez-Gonzalez, C, Santalla, A, Nogales-Gadea, G, Serrano-Lorenzo, P, Andreu, AL, Arenas, J, Zugaza, JL, Lucia, A and Martin, MA.
Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis
International Journal of Molecular Sciences 23(9):
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Nunez-Alvarez, Y and Suelves, M.
HDAC11: a multifaceted histone deacetylase with proficient fatty deacylase activity and its roles in physiological processes
FEBS Journal 289(10): 2771-2792
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Corral-Juan, M, Casquero, P, Giraldo-Restrepo, N, Laurie, S, Martinez-Pineiro, A, Mateo-Montero, RC, Ispierto, L, Vilas, D, Tolosa, E, Volpini, V, Alvarez-Ramo, R, Sanchez, I and Matilla-Duenas, A.
New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)
Brain Communications 4(2):
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Schluter, A, Rodriguez-Palmero, A, Verdura, E, Velez-Santamaria, V, Ruiz, M, Fourcade, S, Planas-Serra, L, Martinez, JJ, Guilera, C, Giros, M, Artuch, R, Yoldi, ME, O'Callaghan, M, Garcia-Cazorla, A, Armstrong, J, Marti, I, Rezola, EM, Redin, C, Mandel, JL, Conejo, D, Sierra-Corcoles, C, Beltran, S, Gut, M, Vazquez, E, Del Toro, M, Troncoso, M, Perez-Jurado, LA, Gutierrez-Solana, LG, de Munain, AL, Casasnovas, C, Aguilera-Albesa, S, Macaya, A and Pujol, A.
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
Neurology 98(9): 912-923
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Panciroli, C, Esteve, A, Munoz-Ferrer, A, Abad, J, Hernandez, JM, Balana, C, Lucente, G, Comas, S and Villa, S.
Prospective pilot study to explore the melatonin level in brain tumor patients undergoing radiotherapy
Sleep and Breathing 26(1): 469-475
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Martin-Aguilar, L, Lleixa, C, Pascual-Goni, E, Caballero-Avila, M, Martinez-Martinez, L, Diaz-Manera, J, Rojas-Garcia, R, Cortes-Vicente, E, Turon-Sans, J, de Luna, N, Suarez-Calvet, X, Gallardo, E, Rajabally, Y, Scotton, S, Jacobs, BC, Baars, A, Cortese, A, Vegezzi, E, Hoftberger, R, Zimprich, F, Roesler, C, Nobile-Orazio, E, Liberatore, G, Hiew, FL, Martinez-Pineiro, A, Carvajal, A, Pinar-Morales, R, Uson-Martin, M, Alberti, O, Lopez-Perez, MA, Marquez, F, Pardo-Fernandez, J, Munoz-Delgado, L, Cabrera-Serrano, M, Ortiz, N, Bartolome, M, Duman, O, Bril, V, Segura-Chavez, D, Pitarokoili, K, Steen, C, Illa, I and Querol, L.
Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy
Neurology-Neuroimmunology & Neuroinflammation 9(1):
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Villarreal-Salazar, M, Brull, A, Nogales-Gadea, G, Andreu, AL, Martin, MA, Arenas, J, Santalla, A, Lucia, A, Vissing, J, Krag, TO and Pinos, T.
Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies
Genes 13(1):
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Kumru, H, Albu, S, Oguz, S, Murillo, N, Lucente, G and Valls-Sole, J.
Effects of different vibration frequencies on spinal cord reflex circuits and thermoalgesic perception
JOURNAL OF MUSCULOSKELETAL & NEURONAL INTERACTIONS 21(4): 533-541
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Koehorst, E, Nunez-Manchon, J, Ballester-Lopez, A, Almendrote, M, Lucente, G, Arbex, A, Chojnacki, J, Vazquez-Manrique, RP, Gomez-Escribano, AP, Pintos-Morell, G, Coll-Canti, J, Ramos-Fransi, A, Martinez-Pineiro, A, Suelves, M and Nogales-Gadea, G.
Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1
Journal of Clinical Medicine 10(23):
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Wilson, MP, Garanto, A, Vairo, FPE, Ng, BG, Ranatunga, WK, Ventouratou, M, Baerenfaenger, M, Huijben, K, Thiel, C, Ashikov, A, Keldermans, L, Souche, E, Vuillaumier-Barrot, S, Dupre, T, Michelakakis, H, Fiumara, A, Pitt, J, White, SM, Lim, SC, Gallacher, L, Peters, H, Rymen, D, Witters, P, Ribes, A, Morales-Romero, B, Rodriguez-Palmero, A, Ballhausen, D, de Lonlay, P, Barone, R, Janssen, MCH, Jaeken, J, Freeze, HH, Matthijs, G, Morava, E and Lefeber, DJ.
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings
American Journal of Human Genetics 108(11): 2130-2144
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Hochberg, I, Demain, LAM, Richer, J, Thompson, K, Urquhart, JE, Rea, A, Pagarkar, W, Rodriguez-Palmero, A, Schluter, A, Verdura, E, Pujol, A, Quijada-Fraile, P, Amberger, A, Deutschmann, AJ, Demetz, S, Gillespie, M, Belyantseva, IA, McMillan, HJ, Barzik, M, Beaman, GM, Motha, R, Ng, KY, O'Sullivan, J, Williams, SG, Bhaskar, SS, Lawrence, IR, Jenkinson, EM, Zambonin, JL, Blumenfeld, Z, Yalonetsky, S, Oerum, S, Rossmanith, W, Yue, WW, Zschocke, J, Munro, KJ, Battersby, BJ, Friedman, TB, Taylor, RW, O'Keefe, RT and Newman, WG.
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
American Journal of Human Genetics 108(11): 2195-2204
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Quijada-Fraile, P, Canales, EA, Martin-Hernandez, E, Ballesta-Martinez, MJ, Guillen-Navarro, E, Pintos-Morell, G, Molto-Abad, M, Moreno-Martinez, D, Morillo, SG, Blasco-Alonso, J, Couce, ML, Sanchez, RG, Cortes-Saladelafont, E, Rodriguez, MAL, Garcia-Silva, MT and Conejo, MM.
Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience
Orphanet Journal of Rare Diseases 16(1): 464-464
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Sune, CH, Lopez, CC, Lopez, PM, Senosiain, OG, Escribano, MD, Poyatos, JV, Barcelo, LH, Alcazar, AR, Carrera-Burgaya, A, De la Torre, FR, Martinez-Pineiro, A and Cabezas, EA.
The sternohyoid muscle flap for new dynamic facial reanimation technique: Anatomical study and clinical results
JOURNAL OF PLASTIC RECONSTRUCTIVE AND AESTHETIC SURGERY 74(11): 3040-3047
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Lucente, G, Corral, J, Rodriguez-Esparragoza, L, Castaner, S, Ortiz, H, Piqueras, A, Broto, J, Hernandez-Perez, M, Domenech, S, Martinez-Pineiro, A, Serra, J, Almendrote, M, Pares, D and Millan, M.
Current Incidence and Risk Factors of Fecal Incontinence After Acute Stroke Affecting Functionally Independent People
Frontiers in Neurology 12: 755432-755432
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Keller, M, Brennenstuhl, H, Hubschmann, OK, Manti, F, Palacios, NAJ, Friedman, J, Yildiz, Y, Koht, JA, Wong, SN, Zafeiriou, DI, Lopez-Laso, E, Pons, R, Kulhanek, J, Jeltsch, K, Serrano-Lomelin, J, Garbade, SF, Opladen, T, Goez, H, Burlina, A, Cortes-Saladelafont, E, Ramos, JAF, Garcia-Cazorla, A, Hoffmann, GF, Hong, STK, Honzik, T, Kavecan, I, Kurian, MA, Leuzzi, V, Lucke, T, Manzoni, F, Mastrangelo, M, Mercimek-Andrews, S, Mir, P, Oppeboen, M, Pearson, TS, Sivri, HS, Steel, D, Stevanovic, G and Fung, CW.
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry
Journal of Inherited Metabolic Disease 44(6): 1489-1502
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Salazar-Martinez, E, Santalla, A, Valenzuela, PL, Nogales-Gadea, G, Pinos, T, Moran, M, Santos-Lozano, A, Fiuza-Luces, C and Lucia, A.
The Second Wind in McArdle Patients: Fitness Matters
Frontiers in Physiology 12: 744632-744632
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Hubschmann, OK, Horvath, G, Cortes-Saladelafont, E, Yildiz, Y, Mastrangelo, M, Pons, R, Friedman, J, Mercimek-Andrews, S, Wong, SN, Pearson, TS, Zafeiriou, DI, Kulhanek, J, Kurian, MA, Lopez-Laso, E, Oppeboen, M, Kilavuz, S, Wassenberg, T, Goez, H, Scholl-Burgi, S, Porta, F, Honzik, T, Santer, R, Burlina, A, Sivri, HS, Leuzzi, V, Hoffmann, GF, Jeltsch, K, Hubschmann, D, Garbade, SF, Garcia-Cazorla, A and Opladen, T.
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Nature Communications 12(1): 5529-5529
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Verdura, E, Rodriguez-Palmero, A, Velez-Santamaria, V, Planas-Serra, L, de la Calle, I, Raspall-Chaure, M, Roubertie, A, Benkirane, M, Saettini, F, Pavinato, L, Mandrile, G, O'Leary, M, O'Heir, E, Barredo, E, Chacon, A, Michaud, V, Goizet, C, Ruiz, M, Schluter, A, Rouvet, I, Sala-Coromina, J, Fossati, C, Iascone, M, Canonico, F, Marce-Grau, A, de Souza, P, Adams, DR, Casasnovas, C, Rehm, HL, Mefford, HC, Gutierrez-Solana, LG, Brusco, A, Koenig, M, Macaya, A and Pujol, A.
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
Brain 144(9): 2659-2669
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Hubschmann, OK, Mohr, A, Friedman, J, Manti, F, Horvath, G, Cortes-Saladelafont, E, Mercimek-Andrews, S, Yildiz, Y, Pons, R, Kulhanek, J, Oppeboen, M, Koht, JA, Podzamczer-Valls, I, Domingo-Jimenez, R, Ibanez, S, Alcoverro-Fortuny, O, Gomez-Alemany, T, de Castro, P, Alfonsi, C, Zafeiriou, DI, Lopez-Laso, E, Guder, P, Santer, R, Honzik, T, Hoffmann, GF, Garbade, SF, Sivri, HS, Leuzzi, V, Jeltsch, K, Garcia-Cazorla, A, Opladen, T and Harting, I.
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
Journal of Inherited Metabolic Disease 44(4): 1070-1082
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Alvarez-Velasco, R, Gutierrez-Gutierrez, G, Trujillo, JC, Martinez, E, Segovia, S, Arribas-Velasco, M, Fernandez, G, Paradas, C, Velez-Gomez, B, Casasnovas, C, Nedkova, V, Guerrero-Sola, A, Ramos-Fransi, A, Martinez-Pineiro, A, Pardo, J, Sevilla, T, Gomez-Caravaca, MT, de Munain, AL, Jerico, I, Pelayo-Negro, AL, Martin, MA, Morgado, Y, Mendoza, MD, Perez-Perez, H, Rojas-Garcia, R, Turon-Sans, J, Querol, L, Gallardo, E, Illa, I and Cortes-Vicente, E.
Clinical characteristics and outcomes of thymoma-associated myasthenia gravis
European Journal of Neurology 28(6): 2083-2091
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Lucente G, Martinez-Barenys C, Ramos-Fransi A, Almendrote-Muñoz M, López de Castro P, Deletis V, Coll-Canti J and Martínez-Piñeiro A.
A New Methodology for Intraoperative Monitoring of the Functional Integrity of the Phrenic Nerve During Cardiothoracic Surgery.
Journal of Clinical Neurophysiology 38(3): 226-230
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Rodriguez-Palmero, A, Boerrigter, MM, Gomez-Andres, D, Aldinger, KA, Marcos-Alcalde, I, Popp, B, Everman, DB, Lovgren, AK, Arpin, S, Bahrambeigi, V, Beunders, G, Bisgaard, AM, Bjerregaard, VA, Bruel, AL, Challman, TD, Cogne, B, Coubes, C, de Man, SA, Denomme-Pichon, AS, Dye, TJ, Elmslie, F, Feuk, L, Garcia-Minaur, S, Gertler, T, Giorgio, E, Gruchy, N, Haack, TB, Haldeman-Englert, CR, Haukanes, BI, Hoyer, J, Hurst, ACE, Isidor, B, Soller, MJ, Kushary, S, Kvarnung, M, Landau, YE, Leppig, KA, Lindstrand, A, Kleinendorst, L, MacKenzie, A, Mandrile, G, Mendelsohn, BA, Moghadasi, S, Morton, JE, Moutton, S, Muuller, AJ, O'Leary, M, Pacio-Miguez, M, Palomares-Bralo, M, Parikh, S, Pfundt, R, Pode-Shakked, B, Rauch, A, Repnikova, E, Revah-Politi, A, Ross, MJ, Ruivenkamp, CAL, Sarrazin, E, Savatt, JM, Schluter, A, Schonewolf-Greulich, B, Shad, Z, Shaw-Smith, C, Shieh, JT, Shohat, M, Spranger, S, Thiese, H, Mau-Them, FT, van Bon, B, van de Burgt, I, van de Laar, IMBH, van Drie, E, van Haelst, MM, van Ravenswaaij-Arts, CM, Verdura, E, Vitobello, A, Waldmuller, S, Whiting, S, Zweier, C, Prada, CE, de Vries, BBA, Dobyns, WB, Reiter, SF, Gomez-Puertas, P, Pujol, A and Tumer, Z.
DLG4-related synaptopathy: a new rare brain disorder
Genetics in Medicine 23(5): 888-899
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de Moura, MC, Davalos, V, Planas-Serra, L, Alvarez-Errico, D, Arribas, C, Ruiz, M, Aguilera-Albesa, S, Troya, J, Valencia-Ramos, J, Velez-Santamaria, V, Rodriguez-Palmero, A, Villar-Garcia, J, Horcajada, JP, Albu, S, Casasnovas, C, Rull, A, Reverte, L, Dietl, B, Dalmau, D, Arranz, MJ, Llucia-Carol, L, Planas, AM, Perez-Tur, J, Fernandez-Cadenas, I, Villares, P, Tenorio, J, Colobran, R, Martin-Nalda, A, Soler-Palacin, P, Vidal, F, Pujol, A and Esteller, M.
Epigenome-wide association study of COVID-19 severity with respiratory failure
EBioMedicine 66: 103339-103339
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Hurtado, E, Nunez-Alvarez, Y, Munoz, M, Gutierrez-Caballero, C, Casas, J, Pendas, AM, Peinado, MA and Suelves, M.
HDAC11 is a novel regulator of fatty acid oxidative metabolism in skeletal muscle
FEBS Journal 288(3): 902-919
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Nunez-Alvarez, Y, Hurtado, E, Munoz, M, Garcia-Tunon, I, Rech, GE, Pluvinet, R, Sumoy, L, Pendas, AM, Peinado, MA and Suelves, M.
Loss of HDAC11 accelerates skeletal muscle regeneration
FEBS Journal 288(4): 1201-1223
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Alvarez, M, Lucente, G, Martinez, L, Almendrote, M, Ramos, A, Broto, J, Arbex, A, Coll, J, Sancho, J and Martinez, A.
Paraplegia Following Type B Acute Aortic Dissection Can Spare the Spinal Cord
Annals of Vascular Surgery 70:
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Garcia-Cazorla, A, Verdura, E, Julia-Palacios, N, Anderson, EN, Goicoechea, L, Planas-Serra, L, Tsogtbaatar, E, Dsouza, NR, Schluter, A, Urreizti, R, Tarnowski, JM, Gavrilova, RH, Ruiz, M, Rodriguez-Palmero, A, Fourcade, S, Cogne, B, Besnard, T, Vincent, M, Bezieau, S, Folmes, CD, Zimmermann, MT, Klee, EW, Pandey, UB, Artuch, R, Cousin, MA and Pujol, A.
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome
Acta Neuropathologica 140(6): 971-975
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Almodovar-Paya, A, Villarreal-Salazar, M, de Luna, N, Nogales-Gadea, G, Real-Martinez, A, Andreu, AL, Martin, MA, Arenas, J, Lucia, A, Vissing, J, Krag, T and Pinos, T.
Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models
International Journal of Molecular Sciences 21(24):
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Koehorst, E, Ballester-Lopez, A, Arechavala-Gomeza, V, Martinez-Pineiro, A and Nogales-Gadea, G.
The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I
Journal of Clinical Medicine 9(12):
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Ballester-Lopez, A, Koehorst, E, Linares-Pardo, I, Nunez-Manchon, J, Almendrote, M, Lucente, G, Arbex, A, Puente, C, Lucia, A, Monckton, DG, Cumming, SA, Pintos-Morell, G, Coll-Canti, J, Ramos-Fransi, A, Martinez-Pineiro, A and Nogales-Gadea, G.
Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1
Genes 11(11):
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López-Martínez A, Soblechero-Martín P, de-la-Puente-Ovejero L, Nogales-Gadea G and Arechavala-Gomeza V.
An Overview of Alternative Splicing Defects Implicated in Myotonic Dystrophy Type I.
Genes 11(9):
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Rodriguez-Palmero, A, Schluter, A, Verdura, E, Ruiz, M, Martinez, JJ, Gourlaouen, I, Ka, C, Lobato, R, Casasnovas, C, Le Gac, G, Fourcade, S and Pujol, A.
A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy
Annals of Clinical and Translational Neurology 7(9): 1574-1579
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Ballester-Lopez, A, Nunez-Manchon, J, Koehorst, E, Linares-Pardo, I, Almendrote, M, Lucente, G, Guanyabens, N, Lopez-Osias, M, Suarez-Mesa, A, Hanick, SA, Chojnacki, J, Lucia, A, Pintos-Morell, G, Coll-Canti, J, Martinez-Pineiro, A, Ramos-Fransi, A and Nogales-Gadea, G.
Three-dimensional imaging in myotonic dystrophy type 1 Linking molecular alterations with disease phenotype
Neurology-Genetics 6(4):
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Ballester-Lopez, A, Linares-Pardo, I, Koehorst, E, Nunez-Manchon, J, Pintos-Morell, G, Coll-Canti, J, Almendrote, M, Lucente, G, Arbex, A, Magana, JJ, Murillo-Melo, NM, Lucia, A, Monckton, DG, Cumming, SA, Ramos-Fransi, A, Martinez-Pineiro, A and Nogales-Gadea, G.
The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1
Genes 11(7):
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Rodriguez-Gomez, I, Santalla, A, Diez-Bermejo, J, Munguia-Izquierdo, D, Alegre, LM, Nogales-Gadea, G, Arenas, J, Martin, MA, Lucia, A and Ara, I.
Sex Differences and the Influence of an Active Lifestyle on Adiposity in Patients with McArdle Disease
International Journal of Environmental Research and Public Health 17(12):
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Opladen, T, Lopez-Laso, E, Cortes-Saladelafont, E, Pearson, TS, Sivri, HS, Yildiz, Y, Assmann, B, Kurian, MA, Leuzzi, V, Heales, S, Pope, S, Porta, F, Garcia-Cazorla, A, Honzik, T, Pons, R, Regal, L, Goez, H, Artuch, R, Hoffmann, GF, Horvath, G, Thony, B, Scholl-Burgi, S, Burlina, A, Verbeek, MM, Mastrangelo, M, Friedman, J, Wassenberg, T, Jeltsch, K, Kulhanek, J and Hubschmann, OK.
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
Orphanet Journal of Rare Diseases 15(1): 126-126
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Gutierrez, GG, Diaz-Manera, J, Almendrote, M, Azriel, S, Barcena, JE, Garcia, PC, Salas, AC, Rodriguez, CC, Cobo, AM, Guardiola, PD, Fernandez-Torron, R, Petit, MPG, Pavia, PG, Gallego, MG, Martinez, AJG, Jerico, I, Garcia, SK, Arregui, ALD, Martorell, L, de la Tassa, GM, Zabaleta, RM, Munoz-Blanco, JL, Roldan, JO, Pascual, SIP, Peinado, RP, Perez, H, Aldea, JJP, Rabasa, M, Ramos, A, Bartolome, AR, Perez, MAR, Urtizberea, JA, Zapata-Wainberg, G and Gutierrez-Rivas, E.
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease
Neurologia 35(3): 185-206
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Harting, I, Al-Saady, M, Krageloh-Mann, I, Bley, A, Hempel, M, Bierhals, T, Karch, S, Moog, U, Bernard, G, Huntsman, R, van Spaendonk, RML, Vreeburg, M, Rodriguez-Palmero, A, Pujol, A, van der Knaap, MS, Pouwels, PJW and Wolf, NI.
POLR3A variants with striatal involvement and extrapyramidal movement disorder
Neurogenetics 21(2): 121-133
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Lucente, G, Valls-Sole, J, Murillo, N, Rothwell, J, Coll, J, Davalos, A and Kumru, H.
Noninvasive Brain Stimulation and Noninvasive Peripheral Stimulation for Neglect Syndrome Following Acquired Brain Injury
Neuromodulation 23(3): 312-323
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Cortes-Vicente, E, Alvarez-Velasco, R, Segovia, S, Paradas, C, Casasnovas, C, Guerrero-Sola, A, Pardo, J, Ramos-Fransi, A, Sevilla, T, de Munain, AL, Gomez, MT, Jerico, I, Gutierrez-Gutierrez, G, Pelayo-Negro, AL, Martin, MA, Mendoza, MD, Moris, G, Rojas-Garcia, R, Diaz-Manera, J, Querol, L, Gallardo, E, Velez, B, Alberti, MA, Galan, L, Garcia-Sobrino, T, Martinez-Pineiro, A, Lozano-Veintimilla, A, Fernandez-Torron, R, Cano-Abascal, A and Illa, I.
Clinical and therapeutic features of myasthenia gravis in adults based on age at onset
Neurology 94(11): 1171-1180
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Panciroli, C, Lucente, G, Vidal, L, Carcereny, E, Quiroga, V, Pardo, JC, Romeo, M, Estival, A, Manzano, JL, Pardo, B, Velarde, JM, Esteve, AM, Lopez, D, Manes, A, Tuset, V, Villa, S and Quintero, CB.
Assessment of neurocognitive decline in cancer patients, except brain cancer, under long-term treatment with bevacizumab
CLINICAL & TRANSLATIONAL ONCOLOGY 22(3): 411-419
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Alonso-Perez, J, Segovia, S, Dominguez-Gonzalez, C, Olive, M, Grimon, MDM, Fernandez-Torron, R, de Munain, AL, Munoz-Blanco, JL, Ramos-Fransi, A, Almendrote, M, Illa, I and Diaz-Manera, J.
Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease
Medicina Clinica 154(3): 80-85
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Ballester-Lopez, A, Koehorst, E, Almendrote, M, Martinez-Pineiro, A, Lucente, G, Linares-Pardo, I, Nunez-Manchon, J, Guanyabens, N, Cano, A, Lucia, A, Overend, G, Cumming, SA, Monckton, DG, Casadevall, T, Isern, I, Sanchez-Ojanguren, J, Planas, A, Rodriguez-Palmero, A, Monlleo-Neilai, L, Pintos-Morell, G, Ramos-Fransi, A, Coll-Canti, J and Nogales-Gadea, G.
A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype
Human Mutation 41(2): 420-431
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Gutiérrez Gutiérrez G, Díaz-Manera J, Almendrote M, Azriel S, Eulalio Bárcena J, Cabezudo García P, Camacho Salas A, Casanova Rodríguez C, Cobo AM, Díaz Guardiola P, Fernández-Torrón R, Gallano Petit MP, García Pavía P, Gómez Gallego M, Gutiérrez Martínez AJ, Jericó I, Kapetanovic García S, López de Munaín Arregui A, Martorell L, Morís de la Tassa G, Moreno Zabaleta R, Muñoz-Blanco JL, Olivar Roldán J, Pascual Pascual SI, Peinado Peinado R, Pérez H, Poza Aldea JJ, Rabasa M, Ramos A, Rosado Bartolomé A, Rubio Pérez MÁ, Urtizberea JA, Zapata-Wainberg G and Gutiérrez-Rivas E.
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.
Medicina Clinica 153(2):
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Lam, S, Lucente, G, Schneider, H and Picht, T.
TMS motor mapping in brain tumor patients: more robust maps with an increased resting motor threshold
Acta Neurochirurgica 161(5): 995-1002
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Real-Martinez, A, Brull, A, Huerta, J, Tarraso, G, Lucia, A, Martin, MA, Arenas, J, Andreu, AL, Nogales-Gadea, G, Vissing, J, Krag, TO, de Luna, N and Pinos, T.
Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model
Scientific Reports 9(1): 5116-5116