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Page 1
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
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, Martí I, Troncoso M, Tomás-Vila M, Bullich G, García-Pérez MA, Sobrido-Gómez MJ, López-Laso E, Fons C, Del Toro M, Macaya A; HSP/ataxia workgroup; Beltran S, Gutiérrez-Solana LG, Pérez-Jurado LA, Aguilera-Albesa S, de Munain AL, Casasnovas C, Pujol A. Schlüter A, et al. Among authors: lopez laso e. Genome Med. 2023 Sep 7;15(1):68. doi: 10.1186/s13073-023-01214-2. Genome Med. 2023. PMID: 37679823 Free PMC article.
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.
Yıldız Y, Kuseyri Hübschmann O, Akgöz Karaosmanoğlu A, Manti F, Karaca M, Schwartz IVD, Pons R, López-Laso E, Palacios NAJ, Porta F, Kavecan I, Balcı MC, Dy-Hollins ME, Wong SN, Oppebøen M, Medeiros LS, de Paula LCP, García-Cazorla A, Hoffmann GF, Jeltsch K, Leuzzi V, Gökçay G, Hübschmann D, Harting I, Özön ZA, Sivri S, Opladen T. Yıldız Y, et al. Among authors: lopez laso e. J Inherit Metab Dis. 2024 May;47(3):431-446. doi: 10.1002/jimd.12658. Epub 2023 Jul 24. J Inherit Metab Dis. 2024. PMID: 37452721
Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases.
Rovira-Remisa MM, Moreira M, Ventura PS, Gonzalez-Alvarez P, Mestres N, Graterol Torres F, Joaquín C, Seuma AR, Del Mar Martínez-Colls M, Roche A, Ibáñez-Micó S, López-Laso E, Méndez-Hernández MJ, Murillo M, Monlleó-Neila L, Maqueda-Castellote E, Del Toro Riera M, Felipe-Rucián A, Giralt-López M, Cortès-Saladelafont E. Rovira-Remisa MM, et al. Among authors: lopez laso e. Mol Genet Metab Rep. 2023 Jun;35:100962. doi: 10.1016/j.ymgmr.2023.100962. Epub 2023 Mar 6. Mol Genet Metab Rep. 2023. PMID: 36909454 Free PMC article.
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Cordovado A, Schaettin M, Jeanne M, Panasenkava V, Denommé-Pichon AS, Keren B, Mignot C, Doco-Fenzy M, Rodan L, Ramsey K, Narayanan V, Jones JR, Prijoles EJ, Mitchell WG, Ozmore JR, Juliette K, Torti E, Normand EA, Granger L, Petersen AK, Au MG, Matheny JP, Phornphutkul C, Chambers MK, Fernández-Ramos JA, López-Laso E, Kruer MC, Bakhtiari S, Zollino M, Morleo M, Marangi G, Mei D, Pisano T, Guerrini R, Louie RJ, Childers A, Everman DB, Isidor B, Audebert-Bellanger S, Odent S, Bonneau D, Gilbert-Dussardier B, Redon R, Bézieau S, Laumonnier F, Stoeckli ET, Toutain A, Vuillaume ML. Cordovado A, et al. Among authors: lopez laso e. Hum Mol Genet. 2022 Sep 29;31(19):3325-3340. doi: 10.1093/hmg/ddac114. Hum Mol Genet. 2022. PMID: 35604360 Free PMC article.
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.
Sánchez-Lijarcio O, Yubero D, Leal F, Couce ML, González Gutiérrez-Solana L, López-Laso E, García-Cazorla À, Pías-Peleteiro L, de Azua Brea B, Ibáñez-Micó S, Mateo-Martínez G, Troncoso-Schifferli M, Witting-Enriquez S, Ugarte M, Artuch R, Pérez B. Sánchez-Lijarcio O, et al. Among authors: lopez laso e. Clin Genet. 2022 Jul;102(1):40-55. doi: 10.1111/cge.14138. Epub 2022 Apr 15. Clin Genet. 2022. PMID: 35388452 Free PMC article.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
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; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes.
Fernández-Ramos JA, De la Torre-Aguilar MJ, Quintáns B, Pérez-Navero JL, Beyer K, López-Laso E; Spanish Segawa Disease Research group. Fernández-Ramos JA, et al. Among authors: lopez laso e. Parkinsonism Relat Disord. 2022 Jan;94:67-78. doi: 10.1016/j.parkreldis.2021.11.014. Epub 2021 Nov 25. Parkinsonism Relat Disord. 2022. PMID: 34890878 Free article.
87 results