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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: garcia penas jj. 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
Characteristics of epilepsy secondary to mutations of PNKP gene.
Furones García M, Ortiz Cabrera NV, Soto Insuga V, García Peñas JJ. Furones García M, et al. Neurologia (Engl Ed). 2021 Feb 4:S0213-4853(20)30440-0. doi: 10.1016/j.nrl.2020.11.012. Online ahead of print. Neurologia (Engl Ed). 2021. PMID: 33549370 Free article. English, Spanish. No abstract available.
[Gerstmann's syndrome in a 9 year old boy].
Fournier del Castillo C, García-Peñas JJ, Gutiérrez-Solana LG, Ruiz-Falcó Rojas ML. Fournier del Castillo C, et al. Rev Neurol. 2000 Apr 16-30;30(8):731-6. Rev Neurol. 2000. PMID: 10893737 Spanish.
Status epilepticus: evidence and controversy.
García Peñas JJ, Molins A, Salas Puig J. García Peñas JJ, et al. Neurologist. 2007 Nov;13(6 Suppl 1):S62-73. doi: 10.1097/NRL.0b013e31815bb069. Neurologist. 2007. PMID: 18090953 Review.
113 results