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182 results on '"Domínguez‐González, C."'

1. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

Author

Martinez-Marin, Rafael Jenaro, Reyes-Leiva, David, Nascimento, Andrés, Muelas, Nuria, Dominguez-González, C., Paradas, Carmen, Olivé, Montse, García-Romero, Mar, Pascual-Pascual, Samuel Ignacio, Grau, Josep Maria, Barba-Romero, Miguel Angel, Gomez-Caravaca, Maria Teresa, de las Heras, Javier, Casquero, Pilar, Mendoza, Maria Dolores, de León, Juan Carlos, Gutierrez, Antonio, Morís, Germán, Blanco-Lago, Raquel, Ramos-Fransi, Alba, Pintós, Guillem, García-Antelo, Maria José, Rabasa, Maria, Morgado, Yolanda, Usón, Mercedes, Miralles, Francisco Javier, Bárcena-Llona, Jose Eulalio, Gómez-Belda, Ana Belén, Pedraza-Hueso, Maria Isabel, Hortelano, Miryam, Colomé, Antoni, Garcia-Martin, Guillermina, Lopez de Munain, Adolfo, Jericó, Ivonne, Galán-Dávila, Lucía, Pardo, Julio, Salgueiro-Origlia, Giorgina, Alonso-Pérez, Jorge, Pla-Junca, Francesc, Schiava, Marianela, Segovia-Simón, Sonia, and Díaz-Manera, Jordi

Published
2024
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5. Physician-assessed and patient-reported outcome measures in chemotherapy-induced sensory peripheral neurotoxicity: two sides of the same coin

Author

Cavaletti, G., Cornblath, D.R., Merkies, I.S.J., Postma, T.J., Valsecchi, M.G, Galimberti, S., Rossi, E., Frigeni, B., Lanzani, F., Mattavelli, L., Piatti, M.L., Alberti, P., Binda, D., Bidoli, P., Cazzaniga, M., Cortinovis, D., Bruna, J., Velasco, R., Argyriou, A.A., Kalofonos, H.P., Psimaras, D., Ricard, D., Pace, A., Galiè, E., Briani, C., Lucchetta, M., Campagnolo, M., Dalla Torre, C., Faber, C.G., Vanhoutte, E.K., Bakkers, M., Brouwer, B., Lalisang, R.I., Boogerd, W., Brandsma, D., Koeppen, S., Hense, J., Grant, R., Storey, D., Kerrigan, S., Schenone, A., Reni, L., Piras, B., Fabbri, S., Padua, L., Granata, G., Leandri, M., Ghignotti, I., Plasmati, R., Pastorelli, F., Heimans, J.J., Eurelings, M., Meijer, R.J., Grisold, W., Lindeck Pozza, E., Mazzeo, A., Toscano, A., Tomasello, C., Altavilla, G., Penas Prado, M., Dominguez Gonzalez, C., Dorsey, S.G., Brell, J.M., and Valsecchi, M.G.

Published
2014
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6. Rasch-built Overall Disability Scale for patients with chemotherapy-induced peripheral neuropathy (CIPN-R-ODS)

Author

Galimberti, S., Lanzani, F., Mattavelli, L., Piatti, M.L., Bidoli, P., Cazzaniga, M., Cortinovis, D., Lucchetta, M., Campagnolo, M., Bakkers, M., Brouwer, B., Boogerd, W., Grant, R., Reni, L., Piras, B., Pessino, A., Padua, L., Granata, G., Leandri, M., Ghignotti, I., Plasmati, R., Pastorelli, F., Heimans, J.J., Eurelings, M., Meijer, R.J., Grisold, W., Lindeck Pozza, E., Mazzeo, A., Toscano, A., Russo, M., Tomasello, C., Altavilla, G., Penas Prado, M., Dominguez Gonzalez, C., Dorsey, S.G., Binda, D., Vanhoutte, E.K., Cavaletti, G., Cornblath, D.R., Postma, T.J., Frigeni, B., Alberti, P., Bruna, J., Velasco, R., Argyriou, A.A., Kalofonos, H.P., Psimaras, D., Ricard, D., Pace, A., Galiè, E., Briani, C., Dalla Torre, C., Lalisang, R.I., Brandsma, D., Koeppen, S., Hense, J., Storey, D., Kerrigan, S., Schenone, A., Fabbri, S., Rossi, E., Valsecchi, M.G., Faber, C.G., and Merkies, I.S.J.

Published
2013
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10. 20424. AUSENCIA DE MUTACIONES PATOGÉNICAS Y FUERTE ASOCIACIÓN CON HLA-DRB1*11:01 EN PACIENTES JÓVENES NO EXPUESTOS A ESTATINAS CON MIOPATÍA NECROTIZANTE ANTI-HMGCR

Author

Llansó Caldentey, L., Segarra Casas, A., Domínguez González, C., Malfatti, E., Kapetanovic, S., Rodríguez Santiago, B., de la Calle, O., Blanco, R., Dobrescu, A., Nascimento, A., Paipa, A., Hernández Laín, A., Jou, C., Mariscal, A., González Mera, L., Arteche, A., Lleixà, C., Caballero Ávila, M., Carbayo, Á., Vesperinas, A., Querol, L., Gallardo, E., and Olivé, M.

Published
2024
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16. The chemotherapy-induced peripheral neuropathy outcome measures standardization study: from consensus to the first validity and reliability findings

Author

Cavaletti, G., Cornblath, D.R., Merkies, I.S.J., Postma, T.J., Rossi, E., Frigeni, B., Alberti, P., Bruna, J., Velasco, R., Argyriou, A.A., Kalofonos, H.P., Psimaras, D., Ricard, D., Pace, A., Galiè, E., Briani, C., Dalla Torre, C., Faber, C.G., Lalisang, R.I., Boogerd, W., Brandsma, D., Koeppen, S., Hense, J., Storey, D., Kerrigan, S., Schenone, A., Fabbri, S., Valsecchi, M.G., Mazzeo, A., Pessino, A., Toscano, A., Brouwer, B., Piras, B., Dominguez Gonzalez, C., Tomasello, C., Binda, D., Cortinovis, D., Lindeck Pozza, E., Vanhoutte, E.K., Lanzani, F., Pastorelli, F., Altavilla, G., Granata, G., Ghignotti, I., Heimans, J.J., Mattavelli, L., Padua, L., Reni, L., Bakkers, M., Boogerd, M., Campagnolo, M., Cazzaniga, M., Eurelings, M., Leandri, M., Lucchetta, M., Penas Prado, M., Russo, M., Piatti, M.L., Bidoli, P., Grant, R., Plasmati, R., Meijer, R.J., Dorsey, S.G., Galimberti, S., and Grisold, W.

Published
2013
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17. Autoantibody screening in Guillain-Barré syndrome

Author

Lleixà, Cinta, Martín-Aguilar, Lorena, Pascual-Goñi, Elba, Franco-Leyva, Teresa, Caballero, Marta, de Luna Salva, Noemí, Gallardo, Eduard, Suarez-Calvet, Xavier, Martínez-Martínez, Laura, Diaz-Manera, Jordi, Rojas-Garcia, Ricard, Cortés-Vicente, Elena, Turón, Joana, Casasnovas, Carlos, Homedes, C., Gutiérrez-Gutiérrez, G., Jimeno-Montero, M. C., Berciano, José, Sedano-Tous, M. J., García-Sobrino, Tania, Pardo, Julio, Márquez-Infante, C., Rojas-Marcos, I., Jericó, Ivonne, Martínez-Hernández, E., Morís, Germán, Domínguez-González, C., Juarez, Candido, Illa, Isabel, Querol, Luis, Universitat Autònoma de Barcelona, and Universidad de Cantabria

Subjects
Male, Cohort Studies, Pathogenesis, Ganglia, Spinal, Mass Screening, Prospective Studies, Neurons, biology, Guillain-Barre syndrome, General Neuroscience, Middle Aged, Guillain-Barré syndrome, Prognosis, medicine.anatomical_structure, Neurology, Nervous system--Diseases, Immunohistochemistry, Female, Antibody, Immunology, Immunocytochemistry, Immunoglobulins, Guillain-Barre Syndrome, Malalties del sistema nerviós, Cellular and Molecular Neuroscience, Antigen, Cell Line, Tumor, medicine, Guillain–Barré syndrome (GBS), Animals, Humans, RC346-429, Aged, Autoantibodies, Anti-ganglioside, business.industry, Research, Autoantibody, Nervous system Diseases, Neuron, medicine.disease, Rats, Spain, biology.protein, Macaca, Neurology. Diseases of the nervous system, Immunoglobulines, business
Abstract

Background Guillain–Barré syndrome (GBS) is an acute inflammatory neuropathy with a heterogeneous presentation. Although some evidences support the role of autoantibodies in its pathogenesis, the target antigens remain unknown in a substantial proportion of GBS patients. The objective of this study is to screen for autoantibodies targeting peripheral nerve components in Guillain–Barré syndrome. Methods Autoantibody screening was performed in serum samples from all GBS patients included in the International GBS Outcome study by 11 different Spanish centres. The screening included testing for anti-ganglioside antibodies, anti-nodo/paranodal antibodies, immunocytochemistry on neuroblastoma-derived human motor neurons and murine dorsal root ganglia (DRG) neurons, and immunohistochemistry on monkey peripheral nerve sections. We analysed the staining patterns of patients and controls. The prognostic value of anti-ganglioside antibodies was also analysed. Results None of the GBS patients (n = 100) reacted against the nodo/paranodal proteins tested, and 61 (61%) were positive for, at least, one anti-ganglioside antibody. GBS sera reacted strongly against DRG neurons more frequently than controls both with IgG (6% vs 0%; p = 0.03) and IgM (11% vs 2.2%; p = 0.02) immunodetection. No differences were observed in the proportion of patients reacting against neuroblastoma-derived human motor neurons. Reactivity against monkey nerve tissue was frequently detected both in patients and controls, but specific patterns were only detected in GBS patients: IgG from 13 (13%) patients reacted strongly against Schwann cells. Finally, we confirmed that IgG anti-GM1 antibodies are associated with poorer outcomes independently of other known prognostic factors. Conclusion Our study confirms that (1) GBS patients display a heterogeneous repertoire of autoantibodies targeting nerve cells and structures; (2) gangliosides are the most frequent antigens in GBS patients and have a prognostic value; (3) further antigen-discovery experiments may elucidate other potential antigens in GBS.

Published
2021

18. CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES

Author

de la Hoz, C. Fuenmayor-Fernández, primary, Hernández-Laín, A., additional, López, A. Arteche, additional, Voth, A. Hernández, additional, Olivé, M., additional, and Domínguez-González, C., additional

Published
2021
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19. IMAGING

Author

Løkken, N., primary, Revsbech, K., additional, Jacobsen, L., additional, Martinuzzi, A., additional, Toscano, A., additional, Martin, M., additional, Manera, J. Díaz, additional, Stefan, C., additional, Domínguez-González, C., additional, Brondani, G., additional, Musumeci, O., additional, Merino-Sanchez, C., additional, Nuñez, C., additional, Montesinos, P., additional, Granata, F., additional, Khawajazada, T., additional, and Vissing, J., additional

Published
2021
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20. MITOCHONDRIAL DISEASES

Author

Domínguez-González, C., primary, Laine-Menéndez, S., additional, Delmiro, A., additional, García-Consuegra, I., additional, Fernández-de la Torre, M., additional, Hernández-Laín, A., additional, Sayas, J., additional, de Fuenmayor, C., additional, Martin, M., additional, and Morán, M., additional

Published
2021
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22. Making sense of missense variants in TTN-related congenital myopathies

Author

Rees, M., Nikoopour, R., Fukuzawa, A., Kho, A.L., Fernandez-Garcia, M.A., Wraige, E., Bodi, I., Deshpande, C., Özdemir, Ö., Daimagüler, H.S., Pfuhl, M., Holt, M., Brandmeier, B., Grover, S., Fluss, J., Longman, C., Farrugia, M.E., Matthews, E., Hanna, M., Muntoni, F., Sarkozy, A., Phadke, R., Quinlivan, R., Oates, E.C., Schröder, R., Thiel, C, Reimann, J., Voermans, N.C., Erasmus, C.E., Kamsteeg, E.J., Konersman, C., Grosmann, C., McKee, S., Tirupathi, S., Moore, S.A., Wilichowski, E., Hobbiebrunken, E., Dekomien, G., Richard, I., Bergh, P., Domínguez-González, C., Cirak, S., Ferreiro, A., Jungbluth, H., Gautel, M., Rees, M., Nikoopour, R., Fukuzawa, A., Kho, A.L., Fernandez-Garcia, M.A., Wraige, E., Bodi, I., Deshpande, C., Özdemir, Ö., Daimagüler, H.S., Pfuhl, M., Holt, M., Brandmeier, B., Grover, S., Fluss, J., Longman, C., Farrugia, M.E., Matthews, E., Hanna, M., Muntoni, F., Sarkozy, A., Phadke, R., Quinlivan, R., Oates, E.C., Schröder, R., Thiel, C, Reimann, J., Voermans, N.C., Erasmus, C.E., Kamsteeg, E.J., Konersman, C., Grosmann, C., McKee, S., Tirupathi, S., Moore, S.A., Wilichowski, E., Hobbiebrunken, E., Dekomien, G., Richard, I., Bergh, P., Domínguez-González, C., Cirak, S., Ferreiro, A., Jungbluth, H., and Gautel, M.

Abstract

Contains fulltext : 231686.pdf (Publisher’s version ) (Open Access), Mutations in the sarcomeric protein titin, encoded by TTN, are emerging as a common cause of myopathies. The diagnosis of a TTN-related myopathy is, however, often not straightforward due to clinico-pathological overlap with other myopathies and the prevalence of TTN variants in control populations. Here, we present a combined clinico-pathological, genetic and biophysical approach to the diagnosis of TTN-related myopathies and the pathogenicity ascertainment of TTN missense variants. We identified 30 patients with a primary TTN-related congenital myopathy (CM) and two truncating variants, or one truncating and one missense TTN variant, or homozygous for one TTN missense variant. We found that TTN-related myopathies show considerable overlap with other myopathies but are strongly suggested by a combination of certain clinico-pathological features. Presentation was typically at birth with the clinical course characterized by variable progression of weakness, contractures, scoliosis and respiratory symptoms but sparing of extraocular muscles. Cardiac involvement depended on the variant position. Our biophysical analyses demonstrated that missense mutations associated with CMs are strongly destabilizing and exert their effect when expressed on a truncating background or in homozygosity. We hypothesise that destabilizing TTN missense mutations phenocopy truncating variants and are a key pathogenic feature of recessive titinopathies that might be amenable to therapeutic intervention.

Published
2021

23. 521P Methodology and design of a study to characterize the disease course in a large dataset of patients with thymidine kinase 2 deficiency.

Author

Domínguez-gonzález, C., Nascimento, A., Ma, Y., Panahloo, Z., Boudiaf, N., Kim, R., VanMeter, S., Brunnert, M., and Hirano, M.

Subjects
*MEDICAL registries, *DISEASE progression, *AGE groups, *NATURAL history, *DISEASE management
Abstract

Thymidine kinase 2 deficiency (TK2d) is an ultra-rare, genetic mitochondrial disease associated with progressive proximal myopathy and respiratory weakness. Many people with TK2d lose the ability to walk, eat and breathe independently. Management is primarily supportive care and there are no approved treatments. Ultra-rare disease study design can be challenging; geographical diversity and small patient population sizes make it hard to obtain data, especially randomized placebo-controlled data. Understanding of TK2d is limited due to low prevalence and a lack of prospective natural history (NH) studies/disease registries. We pooled a large NH dataset of people with TK2d to allow a robust characterization of the disease course. Individuals with TK2d were identified via two literature reviews of published case series and case reports (Jun 2019; updated Oct 2021) and a retrospective chart review study (NCT05017818). This generated the untreated arm of the clinical development programme for pyrimidine nucleos(t)ides in TK2d, which included 153 unique untreated patients for the NH dataset. The dataset was supplemented with pretreatment data (NCT03701568; NCT03845712; NCT05017818) for patients who were later treated in the programme, to generate a comprehensive disease course (CDC) dataset (currently N=245; final patient numbers are subject to change). Assessment of demographic/disease characteristics and key clinical/functional outcomes (survival, motor milestones and need of ventilatory or feeding support) will characterize the burden of TK2d. Analysis will be performed for the CDC group, untreated patients, and subsets of patients grouped by age at TK2d symptom onset. The methodology and design of the study will be described and discussed. This study will contribute to increased understanding of TK2d and help to support the assessment of disease progression and management in clinical practice. Study funded by UCB Pharma. [ABSTRACT FROM AUTHOR]

Published
2024
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24. 478P RNA sequencing as a diagnostic tool in a cohort of 54 undiagnosed patients with neuromuscular diseases.

Author

Segarra-Casas, A., Domínguez-González, C., Natera-de-Benito, D., Ortez, C., Nascimiento, A., Hernández-Laín, A., Kapetanovic, S., Rodríguez, M., González-Mera, L., Nedkova, V., Fernández-Torrón, R., López-de Munain, A., Jimenez-Mallebrera, C., Rodríguez-Santiago, B., Gallardo, E., Olivé, M., Gallano, P., and González-Quereda, L.

Subjects
*NUCLEOTIDE sequencing, *ALTERNATIVE RNA splicing, *RECESSIVE genes, *NEUROMUSCULAR diseases, *RNA sequencing
Abstract

The implementation of Next Generation Sequencing, particularly exome sequencing (ES), into clinical practice has revolutionised the genetic diagnosis of rare diseases. However, it is estimated that 50% of patients with neuromuscular diseases remain undiagnosed after ES. Here, we evaluated total RNA sequencing (RNAseq) from muscle biopsies as a diagnostic tool in genetically unsolved patients. Total RNAseq was extracted from muscle biopsies of 54 undiagnosed patients after ES or gene panel sequencing, 3 positive controls (patients with previously identified RNA defects in the DMD gene) and 17 healthy controls. We evaluated the presence of aberrant splicing, outlier gene expression and allelic imbalance in autosomal recessive genes. In addition, variant calling was performed from the RNAseq data. In 7/54 patients (12.9%) we detected pathogenic alterations at the mRNA level, including two exon skipping events (COL6A1), one intronic retention (TTN), one alternative splicing caused by a synonymous variant (RYR1), one pseudoexon (DMD) and two patients with allelic imbalance in an autosomal recessive gene (GNE). In one of these cases, WGS was required to achieve the genetic diagnosis. Three patients (5.55%) remain under investigation due to the detection of alternative splicing events in new candidate genes. In addition, reanalysis of existing ES data allowed the diagnosis of 8/54 individuals (14.8%). In this study, we show that RNAseq analysis improves the diagnostic rate in patients with neuromuscular diseases after inconclusive results in ES. RNAseq not only enables the identification of molecular events that would not have been detected by other methods, but also allows the reclassification of VUS variants identified at the gDNA level. We also highlight the importance of a periodic reanalysis of existing genomic data and the utility of an integrated genomic and transcriptomic analysis. [ABSTRACT FROM AUTHOR]

Published
2024
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26. CONGENITAL MUSCULAR DYSTROPHIES

Author

Natera-de Benito, D., primary, Reghan-Foley, A., additional, Domínguez-González, C., additional, Ortez, C., additional, Jain, M., additional, Mebrahtu, A., additional, Donkervoort, S., additional, Hu, Y., additional, Fink, M., additional, Yun, P., additional, Ogata, T., additional, Medina, J., additional, Díaz-Manera, J., additional, Carrera-García, L., additional, Expósito-Escudero, J., additional, Olivé, M., additional, Colomer, J., additional, Jiménez-Mallebrera, C., additional, Bönnemann, C., additional, and Nascimento, A., additional

Published
2020
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28. MITOCHONDRIAL DISEASES & METABOLIC MYOPATHIES

Author

Paradas, C., primary, Domínguez-González, C., additional, Madruga-Garrido, M., additional, Hirano, M., additional, Martí, I., additional, Munell, F., additional, Nascimento, A., additional, Olivé, M., additional, Quan, J., additional, Sardina, D., additional, and Martí, R., additional

Published
2020
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29. MITOCHONDRIAL DISEASES & METABOLIC MYOPATHIES

Author

Ali, Q. Abu, primary, Domínguez-González, C., additional, Cohen, B., additional, Berardo, A., additional, Haas, R., additional, Konersman, C., additional, McFarland, R., additional, D'Souza, G., additional, Quan, J., additional, Thompson, B., additional, and Hirano, M., additional

Published
2020
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30. Heterozygous CAPN3 missense variants causing autosomal‐dominant calpainopathy in seven unrelated families

Author

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

Published
2020
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31. International Guillain-Barré Syndrome Outcome Study

Author

Jacobs, B, van den Berg, B, Verboon, C, Chavada, G, Cornblath, D, Gorson, K, Harbo, T, Hartung, H, Hughes, R, Kusunoki, S, van Doorn, P, Willison, H, Consortium, I, van Woerkom, M, Roodbol, J, Reisin, R, Reddel, S, Islam, Z, Islam, B, Mohammad, Q, van den Bergh, P, Feasby, T, Wang, Y, Péréon, Y, Lehmann, H, Dardiotis, E, Nobile Orazio, E, Shahrizaila, N, Bateman, K, Illa, I, Querol, L, Hsieh, S, Davidson, A, Addington, J, Ajroud Driss, S, Andersen, H, Antonini, G, Attarian, S, Badrising, U, Barroso, F, Benedetti, L, Beronio, A, Bianco, M, Binda, D, Briani, C, Bürmann, J, Bella, I, Bertorini, T, Bhavaraju Sanka, R, Brannagan, T, Busby, M, Butterworth, S, Campagnolo, M, Casasnovas, C, Cavaletti, G, Chao, C, Chen, S, Chetty, S, Claeys, K, Cohen, J, Conti, M, Cosgrove, J, Dalakas, M, Dimachkie, M, Dillmann, U, Domínguez González, C, Doppler, K, Dornonville de la Cour, C, Echaniz Laguna, A, Eftimov, F, Faber, C, Fazio, R, Fokke, C, Fujioka, T, Fulgenzi, E, Galassi, G, Garcia, T, Garnero, M, Garssen, M, Gijsbers, C, Gilchrist, J, Gilhuis, H, Goldstein, J, Goyal, N, Granit, V, Grapperon, A, Gutiérrez Gutiérrez, G, Gutmann, L, Hadden, R, Holbech, J, Holt, J, Homedes Pedret, C, Htut, M, Jellema, K, Jericó Pascual, I, Kaida, K, Karafiath, S, Katzberg, H, Kiers, L, Kieseier, B, Kimpinski, K, Kleyweg, R, Kokubun, N, Kolb, N, Kuitwaard, K, Kuwabara, S, Kwan, J, Ladha, S, Landschoff Lassen, L, Lawson, V, Ledingham, D, Léon Cejas, L, Luciano, C, Lucy, S, Lunn, M, Magot, A, Manji, H, Marchesoni, C, Marfia, Ga, Márquez Infante, C, Martinez Hernandez, E, Mataluni, G, Mattiazi, M, Mcdermott, C, Meekins, G, Miller, J, Monges, M, Montero, M, Morís de la Tassa, G, Nascimbene, C, Neumann, C, Nowak, R, Orizaola Balaguer, P, Osei Bonsu, M, Pan, E, Pardo Fernandez, J, Pasnoor, M, Pulley, M, Rajabally, Y, Rinaldi, S, Ritter, C, Roberts, R, Rojas Marcos, I, Rudnicki, S, Sachs, G, Samijn, J, Santoro, L, Saperstein, D, Savransky, A, Schneider, H, Schenone, A, Sedano Tous, M, Sekiguchi, Y, Sheikh, K, Silvestri, N, Sindrup, S, Sommer, C, Stein, B, Stino, A, Spyropoulos, A, Srinivasan, J, Suzuki, H, Taylor, S, Tankisi, H, Tigner, D, Twydell, P, Valzania, F, van Damme, P, van der Kooi, A, van Dijk, G, van der Ree, T, van Koningsveld, R, Varrato, J, Vermeij, F, Verschuuren, J, Visser, L, Vytopil, M, Waheed, W, Wilken, M, Wilkerson, C, Wirtz, P, Yamagishi, Y, Yiu, E, Zhou, L, Zivkovic, S, Immunology, Neurology, Jacobs, B, van den Berg, B, Verboon, C, Chavada, G, Cornblath, D, Gorson, K, Harbo, T, Hartung, H, Hughes, R, Kusunoki, S, van Doorn, P, Willison, H, van Woerkom, M, Roodbol, J, Reisin, R, Reddel, S, Islam, Z, Islam, B, Mohammad, Q, van den Bergh, P, Feasby, T, Wang, Y, Pã©rã©on, Y, Lehmann, H, Dardiotis, E, Nobile Orazio, E, Shahrizaila, N, Bateman, K, Illa, I, Querol, L, Hsieh, S, Davidson, A, Addington, J, Ajroud Driss, S, Andersen, H, Antonini, G, Attarian, S, Badrising, U, Barroso, F, Benedetti, L, Beronio, A, Bianco, M, Binda, D, Briani, C, Bã¼rmann, J, Bella, I, Bertorini, T, Bhavaraju Sanka, R, Brannagan, T, Busby, M, Butterworth, S, Campagnolo, M, Casasnovas, C, Cavaletti, G, Chao, C, Chen, S, Chetty, S, Claeys, K, Cohen, J, Conti, M, Cosgrove, J, Dalakas, M, Dimachkie, M, Dillmann, U, Domínguez González, C, Doppler, K, Dornonville de la Cour, C, Echaniz Laguna, A, Eftimov, F, Faber, C, Fazio, R, Fokke, C, Fujioka, T, Fulgenzi, E, Galassi, G, Garcia, T, Garnero, M, Garssen, M, Gijsbers, C, Gilchrist, J, Gilhuis, H, Goldstein, J, Goyal, N, Granit, V, Grapperon, A, Gutiérrez Gutiérrez, G, Gutmann, L, Hadden, R, Holbech, J, Holt, J, Homedes Pedret, C, Htut, M, Jellema, K, Jericó Pascual, I, Kaida, K, Karafiath, S, Katzberg, H, Kiers, L, Kieseier, B, Kimpinski, K, Kleyweg, R, Kokubun, N, Kolb, N, Kuitwaard, K, Kuwabara, S, Kwan, J, Ladha, S, Landschoff Lassen, L, Lawson, V, Ledingham, D, Léon Cejas, L, Luciano, C, Lucy, S, Lunn, M, Magot, A, Manji, H, Marchesoni, C, Marfia, G, Márquez Infante, C, Martinez Hernandez, E, Mataluni, G, Mattiazi, M, Mcdermott, C, Meekins, G, Miller, J, Monges, M, Montero, M, Morís de la Tassa, G, Nascimbene, C, Neumann, C, Nowak, R, Orizaola Balaguer, P, Osei Bonsu, M, Pan, E, Pardo Fernandez, J, Pasnoor, M, Pulley, M, Rajabally, Y, Rinaldi, S, Ritter, C, Roberts, R, Rojas Marcos, I, Rudnicki, S, Sachs, G, Samijn, J, Santoro, L, Saperstein, D, Savransky, A, Schneider, H, Schenone, A, Sedano Tous, M, Sekiguchi, Y, Sheikh, K, Silvestri, N, Sindrup, S, Sommer, C, Stein, B, Stino, A, Spyropoulos, A, Srinivasan, J, Suzuki, H, Taylor, S, Tankisi, H, Tigner, D, Twydell, P, Valzania, F, van Damme, P, van der Kooi, A, van Dijk, G, van der Ree, T, van Koningsveld, R, Varrato, J, Vermeij, F, Verschuuren, J, Visser, L, Vytopil, M, Waheed, W, Wilken, M, Wilkerson, C, Wirtz, P, Yamagishi, Y, Yiu, E, Zhou, L, Zivkovic, S, Rehabilitation medicine, Internal medicine, and ANS - Neuroinfection & -inflammation

Subjects
Male, Pediatrics, PROGNOSIS, diagnosis, International Cooperation, Guillain-Barré syndrome, biomarkers, outcome, prognosis, treatment, Guillain-Barre syndrome, Guillain-Barré syndrome, Neuroscience (all), Neurology (clinical), Cohort Studies, 0302 clinical medicine, Epidemiology, Outcome Assessment, Health Care, INFECTION, CRITERIA, 030212 general & internal medicine, General Neuroscience, Biobank, Observational Studies as Topic, diagnosi, Disease Progression, biomarker, Female, Settore MED/26 - Neurologia, medicine.symptom, prognosi, Cohort study, medicine.medical_specialty, Weakness, Guillain-Barre Syndrome, CLASSIFICATION, VALIDATION, 03 medical and health sciences, medicine, Humans, INTRAVENOUS IMMUNOGLOBULIN, Protocol (science), business.industry, Polyradiculoneuropathy, medicine.disease, ANTIBODIES, Observational study, business, COLLECTION, 030217 neurology & neurosurgery
Abstract

Guillain-Barré syndrome (GBS) is an acute polyradiculoneuropathy with a highly variable clinical presentation, course, and outcome. The factors that determine the clinical variation of GBS are poorly understood which complicates the care and treatment of individual patients. The protocol of the ongoing International GBS Outcome Study (IGOS), a prospective, observational, multicenter cohort study that aims to identify the clinical and biological determinants and predictors of disease onset, subtype, course and outcome of GBS is presented here. Patients fulfilling the diagnostic criteria for GBS, regardless of age, disease severity, variant forms, or treatment, can participate if included within 2 weeks after onset of weakness. Information about demography, preceding infections, clinical features, diagnostic findings, treatment, course, and outcome is collected. In addition, cerebrospinal fluid and serial blood samples for serum and DNA is collected at standard time points. The original aim was to include at least 1,000 patients with a follow-up of 1-3 years. Data are collected via a web-based data entry system and stored anonymously. IGOS started in May 2012 and by January 2017 included more than 1,400 participants from 143 active centers in 19 countries across 5 continents. The IGOS data/biobank is available for research projects conducted by expertise groups focusing on specific topics including epidemiology, diagnostic criteria, clinimetrics, electrophysiology, antecedent events, antibodies, genetics, prognostic modeling, treatment effects, and long-term outcome of GBS. The IGOS will help to standardize the international collection of data and biosamples for future research of GBS.

Published
2017
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34. O.2Growth differentiation factor 15 is a valuable biomarker of therapeutic response for TK2 deficient myopathy

Author

Domínguez-González, C., primary, Badosa, C., additional, Madruga-Garrido, M., additional, Martí, I., additional, Paradas, C., additional, Ortez, C., additional, Diaz-Manera, J., additional, Blázquez-Bermejo, C., additional, Cámara, Y., additional, Martí, R., additional, Mavillard Saborido, F., additional, Martin, M., additional, Martín-Hernández, E., additional, Montero, R., additional, Artuch, R., additional, Kalko, S., additional, Nascimento, A., additional, and Jimenez-Mallebrera, C., additional

Published
2019
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35. P.60A retrospective study of the combination of pyrimidine nucleos(t)ides in patients with thymidine kinase 2 (TK2) deficiency

Author

Quan, J., primary, Domínguez-González, C., additional, Paradas, C., additional, Madruga-Garrido, M., additional, Nascimento Osorio, A., additional, Munell, F., additional, Mandel, H., additional, Falik-Zaccai, T., additional, Ginsberg, M., additional, Tal, G., additional, Garone, C., additional, Barca, E., additional, Moors, T., additional, and Hirano, M., additional

Published
2019
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36. P.62Muscle multiple mitochondrial DNA deletions: a genetic biomarker to detect nuclear-gene mutations in mtDNA maintenance disorders?

Author

Serrano-Lorenzo, P., primary, Hidalgo, I., additional, González-Quintana, A., additional, Docampo, J., additional, Sánchez-Zapardiel, J., additional, Amate, G., additional, Delmiro, A., additional, Arenas, J., additional, Domínguez-González, C., additional, Blázquez-Encinar, A., additional, and Martín, M., additional

Published
2019
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41. CLINICAL RESEARCH: O.8 Genotype-phenotype correlations in valosin containing protein disease: an international multicentric audit, the VCP International Study Group

Author

Schiava, M., Ikenaga, C., Stojkovic, T., Caballero, M., Nishino, I., Paradas, C., Alonso-Jimenez, A., Kostera-Pruszczyk, A., Morell, F. Miralles, De Bleecker, J., Domínguez-Gonzalez, C., Papadimas, G., Claeys, K., Laforet, P., Toscano, A., Pál, E., Farrugia, M., Tasca, G., Weihl, C., and Manera, J. Diaz

Published
2021
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42. Heterozygous CAPN3 missense variants causing autosomal‐dominant calpainopathy in seven unrelated families.

Author

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, S. T, Waddell, L., Reardon, K., Corbett, A., Hernandez‐Laín, A., Sanchez, A., and Esteban Perez, J.

Subjects
GLUTEAL muscles, MUSCULAR dystrophy, WESTERN immunoblotting, SKELETAL muscle, THIGH, YOUNG adults, FAMILIAL spastic paraplegia
Abstract

Aims: Recessive variants in CAPN3 gene are the cause of the commonest form of autosomal recessive limb girdle muscle dystrophy. However, two distinct in‐frame deletions in CAPN3 (NM_000070.3:c.643_663del21 and c.598_621del15) and more recently, Gly445Arg and Arg572Pro substitutions have been linked to autosomal dominant (AD) forms of calpainopathy. We report 21 affected individuals from seven unrelated families presenting with an autosomal dominant form of muscular dystrophy associated with five different heterozygous missense variants in CAPN. Methods: We have used massively parallel gene sequencing (MPS) to determine the genetic basis of a dominant form of limb girdle muscular dystrophy in affected individuals from seven unrelated families. Results: The c.700G> A, [p.(Gly234Arg)], c.1327T> C [p.(Ser443Pro], c.1333G> A [p.(Gly445Arg)], c.1661A> C [p.(Tyr554Ser)] and c.1706T> C [p.(Phe569Ser)] CAPN3 variants were identified. Affected individuals presented in young adulthood with progressive proximal and axial weakness, waddling walking and scapular winging or with isolated hyperCKaemia. Muscle imaging showed fatty replacement of paraspinal muscles, variable degrees of involvement of the gluteal muscles, and the posterior compartment of the thigh and minor changes at the mid‐leg level. Muscle biopsies revealed mild myopathic changes. Western blot analysis revealed a clear reduction in calpain 3 in skeletal muscle relative to controls. Protein modelling of these variants on the predicted structure of calpain 3 revealed that all variants are located in proximity to the calmodulin‐binding site and are predicted to interfere with proteolytic activation. Conclusions: We expand the genotypic spectrum of CAPN3‐associated muscular dystrophy due to autosomal dominant missense variants. [ABSTRACT FROM AUTHOR]

Published
2021
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43. CONGENITAL MUSCULAR DYSTROPHIES: P.202 Long-term motor function and pulmonary function in COL6-related dystrophies are associated with the maximal motor ability achieved

Author

Natera-de Benito, D., Reghan-Foley, A., Domínguez-González, C., Ortez, C., Jain, M., Mebrahtu, A., Donkervoort, S., Hu, Y., Fink, M., Yun, P., Ogata, T., Medina, J., Díaz-Manera, J., Carrera-García, L., Expósito-Escudero, J., Olivé, M., Colomer, J., Jiménez-Mallebrera, C., Bönnemann, C., and Nascimento, A.

Published
2020
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44. International Guillain-Barré Syndrome Outcome Study: protocol of a prospective observational cohort study on clinical and biological predictors of disease course and outcome in Guillain-Barré syndrome

Author

Jacobs, B.C. (Bart C.), Berg, B. (Bianca) van den, Verboon, C. (Christine), Chavada, G. (Govindsinh), Cornblath, D.R. (David), Gorson, K.C. (Kenneth), Harbo, T. (Thomas), Hartung, H.P., Hughes, R.A.C. (Richard A. C.), Kusunoki, S. (Susumu), Doorn, P.A. (Pieter) van, Willison, H.J. (Hugh J.), Jacobs, B.C. (Bart), Hughes, R.A.C. (Richard), Cornblath, D.R., Gorson, K.C., Kusunoki, S., Willison, H.J. (Hugh), van Woerkom, M., van den Berg, B., Verboon, C., Roodbol, J. (J.), Reisin, R. (R.), Reddel, S.W., Islam, Z. (Zhahirul), Islam, B., Mohammad, Q.D. (Quazi), Bergh, P.Y.K. (Paul) van den, Feasby, T.E., Wang, Y.Z., Harbo, T., Péréon, Y., Lehmann, H.C., Dardiotis, E., Nobile-Orazio, E. (Eduarde), Shahrizaila, N., Jacobs, B.C., Bateman, K., Illa, I. (Isabel), Querol, L. (Luis), Hsieh, S.T., Willison, H.J., Chavada, G., Davidson, A., Addington, J.M., Ajroud-Driss, S., Andersen, H., Antonini, G., Attarian, S., Badrising, U.A. (Umesh), Barroso, F.A., Benedetti, L., Beronio, A., Bianco, M., Binda, D., Briani, C., Bürmann, J., Bella, I.R., Bertorini, T.E., Bhavaraju-Sanka, R., Brannagan, T.H., Busby, M., Butterworth, S., Campagnolo, M., Casasnovas, C., Cavaletti, G., Chao, C.S., Chen, S., Chetty, S., Claeys, T. (Tine), Cohen, J.A., Conti, M.E., Cosgrove, J.S., Dalakas, M.C. (Marinos), Dimachkie, M.M., Dillmann, U., Domínguez González, C., Doppler, K., Dornonville de la Cour, C., Echaniz-Laguna, A., Eftimov, F. (Filip), Faber, C.G., Fazio, R. (R.), Fokke, M. (Maureen), Fujioka, T., Fulgenzi, E. (E.), Galassi, G., Garcia, T., Garnero, M., Garssen, M.P.J. (Marcel), Gijsbers, C.J., Gilchrist, J.M., Gilhuis, J. (Job), Goldstein, J.M., Goyal, N., Granit, V., Grapperon, A., Gutiérrez Gutiérrez, G., Gutmann, L., Hadden, R.D.M. (Rob), Holbech, J.V., Holt, J.K.L., Homedes Pedret, C., Htut, M., Jellema, K., Jericó Pascual, I., Kaida, K.I. (Ken Ichi), Karafiath, S., Katzberg, H. (Hans), Kiers, H.A.L. (Henk), Kieseier, B.C. (Bernd), Kimpinski, K., Kleyweg, R.P., Kokubun, N., Kolb, N.A., Kuitwaard, K. (Krista), Kuwabara, S., Kwan, J.Y., Ladha, S.S., Landschoff Lassen, L., Lawson, V., Ledingham, D., Léon Cejas, L., Luciano, C.A., Lucy, S.T., Lunn, M.P.T. (Michael P. T.), Magot, A., Manji, H., Marchesoni, A., Marfia, G.A.M., Márquez Infante, C., Martinez Hernandez, E., Mataluni, G., Mattiazi, M., McDermott, C.J., Meekins, G.D., Miller, J., Monges, M.S., Montero, M.C.J., Morís de la Tassa, G., Nascimbene, C., Neumann, C., Nowak, R.J., Orizaola Balaguer, P., Osei-Bonsu, M., Pan, E.B.L., Pardo Fernandez, J., Pasnoor, M., Pulley, M.T., Rajabally, Y.A., Rinaldi, S. (Sabina), Ritter, C., Roberts, R.C., Rojas-Marcos, I., Rudnicki, S.A., Sachs, G.M., Samijn, J.P. (Johnny), Santoro, L., Saperstein, D.S., Savransky, A., Schneider, H., Schenone, A. (Andrea), Sedano Tous, M.J., Sekiguchi, Y., Sheikh, K.A., Silvestri, N.J., Sindrup, S.H., Sommer, C., Stein, B., Stino, A.M., Spyropoulos, A., Srinivasan, J., Suzuki, H., Taylor, S.W., Tankisi, H., Tigner, D., Twydell, P.T., Valzania, F., van Damme, P., Kooj, A.J. (Anneke), Dijk, G.W. (Gert) van, van der Ree, T., Koningsveld, R. (Rinske) van, Varrato, J.D., Vermeij, F.H. (Frederique), Verschuuren, J.J. (Jan), Visser, L.H. (Leendert), Vytopil, M.V., Waheed, W., Wilken, M., Wilkerson, C., Wirtz, P.W., Yamagishi, Y., Yiu, E.M., Zhou, L., Zivkovic, S.A. (Sasa), Jacobs, B.C. (Bart C.), Berg, B. (Bianca) van den, Verboon, C. (Christine), Chavada, G. (Govindsinh), Cornblath, D.R. (David), Gorson, K.C. (Kenneth), Harbo, T. (Thomas), Hartung, H.P., Hughes, R.A.C. (Richard A. C.), Kusunoki, S. (Susumu), Doorn, P.A. (Pieter) van, Willison, H.J. (Hugh J.), Jacobs, B.C. (Bart), Hughes, R.A.C. (Richard), Cornblath, D.R., Gorson, K.C., Kusunoki, S., Willison, H.J. (Hugh), van Woerkom, M., van den Berg, B., Verboon, C., Roodbol, J. (J.), Reisin, R. (R.), Reddel, S.W., Islam, Z. (Zhahirul), Islam, B., Mohammad, Q.D. (Quazi), Bergh, P.Y.K. (Paul) van den, Feasby, T.E., Wang, Y.Z., Harbo, T., Péréon, Y., Lehmann, H.C., Dardiotis, E., Nobile-Orazio, E. (Eduarde), Shahrizaila, N., Jacobs, B.C., Bateman, K., Illa, I. (Isabel), Querol, L. (Luis), Hsieh, S.T., Willison, H.J., Chavada, G., Davidson, A., Addington, J.M., Ajroud-Driss, S., Andersen, H., Antonini, G., Attarian, S., Badrising, U.A. (Umesh), Barroso, F.A., Benedetti, L., Beronio, A., Bianco, M., Binda, D., Briani, C., Bürmann, J., Bella, I.R., Bertorini, T.E., Bhavaraju-Sanka, R., Brannagan, T.H., Busby, M., Butterworth, S., Campagnolo, M., Casasnovas, C., Cavaletti, G., Chao, C.S., Chen, S., Chetty, S., Claeys, T. (Tine), Cohen, J.A., Conti, M.E., Cosgrove, J.S., Dalakas, M.C. (Marinos), Dimachkie, M.M., Dillmann, U., Domínguez González, C., Doppler, K., Dornonville de la Cour, C., Echaniz-Laguna, A., Eftimov, F. (Filip), Faber, C.G., Fazio, R. (R.), Fokke, M. (Maureen), Fujioka, T., Fulgenzi, E. (E.), Galassi, G., Garcia, T., Garnero, M., Garssen, M.P.J. (Marcel), Gijsbers, C.J., Gilchrist, J.M., Gilhuis, J. (Job), Goldstein, J.M., Goyal, N., Granit, V., Grapperon, A., Gutiérrez Gutiérrez, G., Gutmann, L., Hadden, R.D.M. (Rob), Holbech, J.V., Holt, J.K.L., Homedes Pedret, C., Htut, M., Jellema, K., Jericó Pascual, I., Kaida, K.I. (Ken Ichi), Karafiath, S., Katzberg, H. (Hans), Kiers, H.A.L. (Henk), Kieseier, B.C. (Bernd), Kimpinski, K., Kleyweg, R.P., Kokubun, N., Kolb, N.A., Kuitwaard, K. (Krista), Kuwabara, S., Kwan, J.Y., Ladha, S.S., Landschoff Lassen, L., Lawson, V., Ledingham, D., Léon Cejas, L., Luciano, C.A., Lucy, S.T., Lunn, M.P.T. (Michael P. T.), Magot, A., Manji, H., Marchesoni, A., Marfia, G.A.M., Márquez Infante, C., Martinez Hernandez, E., Mataluni, G., Mattiazi, M., McDermott, C.J., Meekins, G.D., Miller, J., Monges, M.S., Montero, M.C.J., Morís de la Tassa, G., Nascimbene, C., Neumann, C., Nowak, R.J., Orizaola Balaguer, P., Osei-Bonsu, M., Pan, E.B.L., Pardo Fernandez, J., Pasnoor, M., Pulley, M.T., Rajabally, Y.A., Rinaldi, S. (Sabina), Ritter, C., Roberts, R.C., Rojas-Marcos, I., Rudnicki, S.A., Sachs, G.M., Samijn, J.P. (Johnny), Santoro, L., Saperstein, D.S., Savransky, A., Schneider, H., Schenone, A. (Andrea), Sedano Tous, M.J., Sekiguchi, Y., Sheikh, K.A., Silvestri, N.J., Sindrup, S.H., Sommer, C., Stein, B., Stino, A.M., Spyropoulos, A., Srinivasan, J., Suzuki, H., Taylor, S.W., Tankisi, H., Tigner, D., Twydell, P.T., Valzania, F., van Damme, P., Kooj, A.J. (Anneke), Dijk, G.W. (Gert) van, van der Ree, T., Koningsveld, R. (Rinske) van, Varrato, J.D., Vermeij, F.H. (Frederique), Verschuuren, J.J. (Jan), Visser, L.H. (Leendert), Vytopil, M.V., Waheed, W., Wilken, M., Wilkerson, C., Wirtz, P.W., Yamagishi, Y., Yiu, E.M., Zhou, L., and Zivkovic, S.A. (Sasa)

Abstract

Guillain-Barré syndrome (GBS) is an acute polyradiculoneuropathy with a highly variable clinical presentation, course, and outcome. The factors that determine the clinical variation of GBS are poorly understood which complicates the care and treatment of individual patients. The protocol of the ongoing International GBS Outcome Study (IGOS), a prospective, observational, multicenter cohort study that aims to identify the clinical and biological determinants and predictors of disease onset, subtype, course and outcome of GBS is presented here. Patients fulfilling the diagnostic criteria for GBS, regardless of age, disease severity, variant forms, or treatment, can participate if included within 2 weeks after onset of weakness. Information about demography, preceding infections, clinical features, diagnostic findings, treatment, course, and outcome is collected. In addition, cerebrospinal fluid and serial blood samples for serum and DNA is collected at standard time points. The original aim was to include at least 1,000 patients with a follow-up of 1–3 years. Data are collected via a web-based data entry system and stored anonymously. IGOS started in May 2012 and by January 2017 included more than 1,400 participants from 143 active centers in 19 countries across 5 continents. The IGOS data/biobank is available for research projects conducted by expertise groups focusing on specific topics including epidemiology, diagnostic criteria, clinimetrics, electrophysiology, antecedent events, antibodies, genetics, prognostic modeling, treatment effects, and long-term outcome of GBS. The IGOS will help to standardize the international collection of data and biosamples for future research of GBS.

Published
2017
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48. Late onset riboflavin responsive lipid myopathy with multiple acyl-CoA dehydrogenase deficiency: Report of four patients

Author

Rojas-Marcos, I., primary, Rubí, J., additional, Blázquez, A., additional, Carbonell, P., additional, De Torres, R., additional, Domínguez-Mayoral, A., additional, Ávilla, R., additional, Martín-Casanueva, M., additional, Gutiérrez, C., additional, Márquez-Infante, C., additional, Rivas, E., additional, Paradas, C., additional, and Domínguez-González, C., additional

Published
2016
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49. Distinct myopathic phenotypes associated with two novel mutations at the anticodon stem pair 28T:42A of the MT-TN gene of the mtDNA

Author

Blázquez, A., primary, Domínguez-González, C., additional, Delmiro, A., additional, Rufián, L., additional, Martin-Santidrian, M., additional, Hernández-Laín, A., additional, Jiménez, S., additional, Serrano-Lorenzo, P., additional, González-Quintana, A., additional, Arenas, J., additional, Morán, M., additional, and Martin, M., additional

Published
2016
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50. Exercise intervention in a family with exercise intolerance and a novel mutation in the mitochondrial POLG gene

Author

Morán, M., primary, Blázquez, A., additional, Fiuza-Luces, C., additional, Díez-Bermejo, J., additional, Delmiro, A., additional, Docampo, J., additional, Serrano-Lorenzo, P., additional, González-Quintana, A., additional, Arenas, J., additional, Laín-Hernández, A., additional, Lucía, A., additional, Domínguez-González, C., additional, and Martín, M., additional

Published
2016
Full Text
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