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Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.

Neurology

Schlüter A, Rodríguez-Palmero A, Verdura E, Vélez-Santamaría V, Ruiz M, Fourcade S, Planas-Serra L, Martínez JJ, Guilera C, Girós M, Artuch R, Yoldi ME, O'Callaghan M, García-Cazorla A, Armstrong J, Marti I, Rezola EM, Redin C, Mandel JL, Conejo D, Sierra-Córcoles C, Beltran S, Gut M, Vázquez E, Del Toro M, Troncoso M, Pérez-Jurado LA, Gutiérrez-Solana LG, López de Munain A, Casasnovas C, Aguilera-Albesa S, Macaya A, Pujol A.
PMID: 35012964
Neurology. 2022 Jan 10; doi: 10.1212/WNL.0000000000013278. Epub 2022 Jan 10.

BACKGROUND AND OBJECTIVES: Genetic white matter disorders (GWMD) are of heterogeneous origin, with more than a hundred causal genes identified to date. Classical targeted approaches achieve a molecular diagnosis in only half of all patients. Here we aim to...

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Schlüter A, Rodríguez-Palmero A, Verdura E, et al. Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization. Neurology. 2022;doi: 10.1212/WNL.0000000000013278.
Schlüter, A., Rodríguez-Palmero, A., Verdura, E., Vélez-Santamaría, V., Ruiz, M., Fourcade, S., Planas-Serra, L., Martínez, J. J., Guilera, C., Girós, M., Artuch, R., Yoldi, M. E., O'Callaghan, M., García-Cazorla, A., Armstrong, J., Marti, I., Rezola, E. M., Redin, C., Mandel, J. L., Conejo, D., Sierra-Córcoles, C., Beltran, S., Gut, M., Vázquez, E., Del Toro, M., Troncoso, M., Pérez-Jurado, L. A., Gutiérrez-Solana, L. G., López de Munain, A., Casasnovas, C., Aguilera-Albesa, S., Macaya, A., Pujol, A. (2022). Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization. Neurology, . https://doi.org/10.1212/WNL.0000000000013278
Schlüter, Agatha, et al. "Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization." Neurology vol. (2022). doi: https://doi.org/10.1212/WNL.0000000000013278
Schlüter A, Rodríguez-Palmero A, Verdura E, Vélez-Santamaría V, Ruiz M, Fourcade S, Planas-Serra L, Martínez JJ, Guilera C, Girós M, Artuch R, Yoldi ME, O'Callaghan M, García-Cazorla A, Armstrong J, Marti I, Rezola EM, Redin C, Mandel JL, Conejo D, Sierra-Córcoles C, Beltran S, Gut M, Vázquez E, Del Toro M, Troncoso M, Pérez-Jurado LA, Gutiérrez-Solana LG, López de Munain A, Casasnovas C, Aguilera-Albesa S, Macaya A, Pujol A. Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization. Neurology. 2022 Jan 10; doi: 10.1212/WNL.0000000000013278. Epub 2022 Jan 10. PMID: 35012964.
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Effects of .

Frontiers in microbiology

Rodríguez-Sorrento A, Castillejos L, López-Colom P, Cifuentes-Orjuela G, Rodríguez-Palmero M, Moreno-Muñoz JA, Martín-Orúe SM.
PMID: 32973728
Front Microbiol. 2020 Aug 21;11:2012. doi: 10.3389/fmicb.2020.02012. eCollection 2020.

No abstract available.

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Rodríguez-Sorrento A, Castillejos L, López-Colom P, et al. Effects of . Front Microbiol. 2020;11:2012doi: 10.3389/fmicb.2020.02012.
Rodríguez-Sorrento, A., Castillejos, L., López-Colom, P., Cifuentes-Orjuela, G., Rodríguez-Palmero, M., Moreno-Muñoz, J. A., & Martín-Orúe, S. M. (2020). Effects of . Frontiers in microbiology, 112012. https://doi.org/10.3389/fmicb.2020.02012
Rodríguez-Sorrento, Agustina, et al. "Effects of ." Frontiers in microbiology vol. 11 (2020): 2012. doi: https://doi.org/10.3389/fmicb.2020.02012
Rodríguez-Sorrento A, Castillejos L, López-Colom P, Cifuentes-Orjuela G, Rodríguez-Palmero M, Moreno-Muñoz JA, Martín-Orúe SM. Effects of . Front Microbiol. 2020 Aug 21;11:2012. doi: 10.3389/fmicb.2020.02012. eCollection 2020. PMID: 32973728; PMCID: PMC7472873.
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Growth patterns and breast milk/infant formula energetic efficiency in healthy infants up to 18 months of life: the COGNIS study.

The British journal of nutrition

Sepúlveda-Valbuena N, Nieto-Ruiz A, Diéguez E, Herrmann F, Escudero-Marín M, De-Castellar R, Rodríguez-Palmero M, Miranda MT, García-Santos JA, Bermúdez MG, Campoy C.
PMID: 33602357
Br J Nutr. 2021 Dec 28;126(12):1809-1822. doi: 10.1017/S000711452100057X. Epub 2021 Feb 19.

Type of feeding during early life influences growth trajectory and metabolic risk at later ages. Modifications in infant formula composition have led to evaluate their effects on growth and energetic efficiency (EE) compared with breast-feeding. Main goal was to...

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Sepúlveda-Valbuena N, Nieto-Ruiz A, Diéguez E, et al. Growth patterns and breast milk/infant formula energetic efficiency in healthy infants up to 18 months of life: the COGNIS study. Br J Nutr. 2021;126(12):1809-1822doi: 10.1017/S000711452100057X.
Sepúlveda-Valbuena, N., Nieto-Ruiz, A., Diéguez, E., Herrmann, F., Escudero-Marín, M., De-Castellar, R., Rodríguez-Palmero, M., Miranda, M. T., García-Santos, J. A., Bermúdez, M. G., & Campoy, C. (2021). Growth patterns and breast milk/infant formula energetic efficiency in healthy infants up to 18 months of life: the COGNIS study. The British journal of nutrition, 126(12), 1809-1822. https://doi.org/10.1017/S000711452100057X
Sepúlveda-Valbuena, Natalia, et al. "Growth patterns and breast milk/infant formula energetic efficiency in healthy infants up to 18 months of life: the COGNIS study." The British journal of nutrition vol. 126,12 (2021): 1809-1822. doi: https://doi.org/10.1017/S000711452100057X
Sepúlveda-Valbuena N, Nieto-Ruiz A, Diéguez E, Herrmann F, Escudero-Marín M, De-Castellar R, Rodríguez-Palmero M, Miranda MT, García-Santos JA, Bermúdez MG, Campoy C. Growth patterns and breast milk/infant formula energetic efficiency in healthy infants up to 18 months of life: the COGNIS study. Br J Nutr. 2021 Dec 28;126(12):1809-1822. doi: 10.1017/S000711452100057X. Epub 2021 Feb 19. PMID: 33602357.
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Effects of the Administration of .

Frontiers in microbiology

Rodríguez-Sorrento A, Castillejos L, López-Colom P, Cifuentes-Orjuela G, Rodríguez-Palmero M, Moreno-Muñoz JA, Luise D, Trevisi P, Martín-Orúe SM.
PMID: 33935999
Front Microbiol. 2021 Apr 16;12:642549. doi: 10.3389/fmicb.2021.642549. eCollection 2021.

We evaluated the potential of multi-strain probiotic (

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Rodríguez-Sorrento A, Castillejos L, López-Colom P, et al. Effects of the Administration of . Front Microbiol. 2021;12:642549doi: 10.3389/fmicb.2021.642549.
Rodríguez-Sorrento, A., Castillejos, L., López-Colom, P., Cifuentes-Orjuela, G., Rodríguez-Palmero, M., Moreno-Muñoz, J. A., Luise, D., Trevisi, P., & Martín-Orúe, S. M. (2021). Effects of the Administration of . Frontiers in microbiology, 12642549. https://doi.org/10.3389/fmicb.2021.642549
Rodríguez-Sorrento, Agustina, et al. "Effects of the Administration of ." Frontiers in microbiology vol. 12 (2021): 642549. doi: https://doi.org/10.3389/fmicb.2021.642549
Rodríguez-Sorrento A, Castillejos L, López-Colom P, Cifuentes-Orjuela G, Rodríguez-Palmero M, Moreno-Muñoz JA, Luise D, Trevisi P, Martín-Orúe SM. Effects of the Administration of . Front Microbiol. 2021 Apr 16;12:642549. doi: 10.3389/fmicb.2021.642549. eCollection 2021. PMID: 33935999; PMCID: PMC8086512.
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Measurement and PC-SAFT modelling of three-phase behaviour.

Physical chemistry chemical physics : PCCP

Rodríguez-Palmeiro I, Rodríguez O, Soto A, Held C.
PMID: 25464376
Phys Chem Chem Phys. 2015 Jan 21;17(3):1800-10. doi: 10.1039/c4cp04336g. Epub 2014 Dec 02.

Modelling of multi-component systems with complex interactions is an ongoing challenge in thermodynamics due to their great relevance in industry and academia. Systems that build three liquid phases are found in many interesting applications (separation processes, triphasic catalysis…). Among...

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Rodríguez-Palmeiro I, Rodríguez O, Soto A, et al. Measurement and PC-SAFT modelling of three-phase behaviour. Phys Chem Chem Phys. 2014;17(3):1800-10doi: 10.1039/c4cp04336g.
Rodríguez-Palmeiro, I., Rodríguez, O., Soto, A., & Held, C. (2015). Measurement and PC-SAFT modelling of three-phase behaviour. Physical chemistry chemical physics : PCCP, 17(3), 1800-10. https://doi.org/10.1039/c4cp04336g
Rodríguez-Palmeiro, Iago, et al. "Measurement and PC-SAFT modelling of three-phase behaviour." Physical chemistry chemical physics : PCCP vol. 17,3 (2015): 1800-10. doi: https://doi.org/10.1039/c4cp04336g
Rodríguez-Palmeiro I, Rodríguez O, Soto A, Held C. Measurement and PC-SAFT modelling of three-phase behaviour. Phys Chem Chem Phys. 2015 Jan 21;17(3):1800-10. doi: 10.1039/c4cp04336g. Epub 2014 Dec 02. PMID: 25464376.
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Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.

Brain : a journal of neurology

Verdura E, Rodríguez-Palmero A, Vélez-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, Chacón A, Michaud V, Goizet C, Ruiz M, Schlüter A, Rouvet I, Sala-Coromina J, Fossati C, Iascone M, Canonico F, Marcé-Grau A, de Souza P, Adams DR, Casasnovas C, Rehm HL, Mefford HC, González Gutierrez-Solana L, Brusco A, Koenig M, Macaya A, Pujol A.
PMID: 34415322
Brain. 2021 Oct 22;144(9):2659-2669. doi: 10.1093/brain/awab124.

Phosphoinositides are lipids that play a critical role in processes such as cellular signalling, ion channel activity and membrane trafficking. When mutated, several genes that encode proteins that participate in the metabolism of these lipids give rise to neurological...

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Verdura E, Rodríguez-Palmero A, Vélez-Santamaria V, et al. Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy. Brain. 2021;144(9):2659-2669doi: 10.1093/brain/awab124.
Verdura, E., Rodríguez-Palmero, A., Vélez-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., Chacón, A., Michaud, V., Goizet, C., Ruiz, M., Schlüter, A., Rouvet, I., Sala-Coromina, J., Fossati, C., Iascone, M., Canonico, F., Marcé-Grau, A., de Souza, P., Adams, D. R., Casasnovas, C., Rehm, H. L., Mefford, H. C., González Gutierrez-Solana, L., Brusco, A., Koenig, M., Macaya, A., & Pujol, A. (2021). Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy. Brain : a journal of neurology, 144(9), 2659-2669. https://doi.org/10.1093/brain/awab124
Verdura, Edgard, et al. "Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy." Brain : a journal of neurology vol. 144,9 (2021): 2659-2669. doi: https://doi.org/10.1093/brain/awab124
Verdura E, Rodríguez-Palmero A, Vélez-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, Chacón A, Michaud V, Goizet C, Ruiz M, Schlüter A, Rouvet I, Sala-Coromina J, Fossati C, Iascone M, Canonico F, Marcé-Grau A, de Souza P, Adams DR, Casasnovas C, Rehm HL, Mefford HC, González Gutierrez-Solana L, Brusco A, Koenig M, Macaya A, Pujol A. Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy. Brain. 2021 Oct 22;144(9):2659-2669. doi: 10.1093/brain/awab124. PMID: 34415322; PMCID: PMC8557332.
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Showing 1 to 6 of 6 entries