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Year Number of Results
2012 1
2013 2
2014 2
2015 2
2016 6
2017 4
2018 4
2019 3
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2021 7
2022 14
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2024 4
2025 0

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50 results

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Page 1
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.
Cioclu MC, Mosca I, Ambrosino P, Puzo D, Bayat A, Wortmann SB, Koch J, Strehlow V, Shirai K, Matsumoto N, Sanders SJ, Michaud V, Legendre M, Riva A, Striano P, Muhle H, Pendziwiat M, Lesca G, Mangano GD, Nardello R; KCNT2-study group; Lemke JR, Møller RS, Soldovieri MV, Rubboli G, Taglialatela M. Cioclu MC, et al. Ann Neurol. 2023 Aug;94(2):332-349. doi: 10.1002/ana.26662. Epub 2023 May 22. Ann Neurol. 2023. PMID: 37062836
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
Martinez-Cayuelas E, Blanco-Kelly F, Lopez-Grondona F, Swafiri ST, Lopez-Rodriguez R, Losada-Del Pozo R, Mahillo-Fernandez I, Moreno B, Rodrigo-Moreno M, Casas-Alba D, Lopez-Gonzalez A, García-Miñaúr S, Ángeles Mori M, Pacio-Minguez M, Rikeros-Orozco E, Santos-Simarro F, Cruz-Rojo J, Quesada-Espinosa JF, Sanchez-Calvin MT, Sanchez-Del Pozo J, Bernado Fonz R, Isidoro-Garcia M, Ruiz-Ayucar I, Alvarez-Mora MI, Blanco-Lago R, De Azua B, Eiris J, Garcia-Peñas JJ, Gil-Fournier B, Gomez-Lado C, Irazabal N, Lopez-Gonzalez V, Madrigal I, Malaga I, Martinez-Menendez B, Ramiro-Leon S, Garcia-Hoyos M, Prieto-Matos P, Lopez-Pison J, Aguilera-Albesa S, Alvarez S, Fernández-Jaén A, Llano-Rivas I, Gener-Querol B, Ayuso C, Arteche-Lopez A, Palomares-Bralo M, Cueto-González A, Valenzuela I, Martinez-Monseny A, Lorda-Sanchez I, Almoguera B. Martinez-Cayuelas E, et al. Among authors: alvarez mora mi. J Med Genet. 2023 Jul;60(7):644-654. doi: 10.1136/jmg-2022-108632. Epub 2022 Nov 29. J Med Genet. 2023. PMID: 36446582
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.
Fragile X syndrome: An overview and update of the FMR1 gene.
Mila M, Alvarez-Mora MI, Madrigal I, Rodriguez-Revenga L. Mila M, et al. Among authors: alvarez mora mi. Clin Genet. 2018 Feb;93(2):197-205. doi: 10.1111/cge.13075. Epub 2017 Oct 1. Clin Genet. 2018. PMID: 28617938 Review.
Spastic Paraplegia and Cognitive Impairment Due to a De Novo Pathogenic Variant in Presenilin-1.
Muñoz E, Jodar M, Guerrero J, Compta Y, Perissinotti A, Álvarez-Mora MI, Falgàs N, Rodríguez-Revenga L, Sánchez-Valle R. Muñoz E, et al. Among authors: alvarez mora mi. Mov Disord Clin Pract. 2022 Oct 23;10(1):148-150. doi: 10.1002/mdc3.13588. eCollection 2023 Jan. Mov Disord Clin Pract. 2022. PMID: 36699002 Free PMC article. No abstract available.
Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.
Alvarez-Mora MI, Rodríguez-Revenga L, Jodar M, Potrony M, Sanchez A, Badenas C, Oriola J, Villanueva-Cañas JL, Muñoz E, Valldeoriola F, Cámara A, Compta Y, Carreño M, Martí MJ, Sánchez-Valle R, Madrigal I. Alvarez-Mora MI, et al. Genes (Basel). 2023 Mar 28;14(4):813. doi: 10.3390/genes14040813. Genes (Basel). 2023. PMID: 37107571 Free PMC article.
Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review.
Gómez-Rodríguez MJ, Morales-Conejo M, Arteche-López A, Sánchez-Calvín MT, Quesada-Espinosa JF, Gómez-Manjón I, Palma-Milla C, Lezana-Rosales JM, Pérez de la Fuente R, Martin-Ramos ML, Fernández-Guijarro M, Moreno-García M, Alvarez-Mora MI. Gómez-Rodríguez MJ, et al. Among authors: alvarez mora mi. Genes (Basel). 2022 Sep 8;13(9):1609. doi: 10.3390/genes13091609. Genes (Basel). 2022. PMID: 36140775 Free PMC article. Review.
50 results