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Tatton-Brown-Rahman syndrome: Novel pathogenic variants and new neuroimaging findings.
Jiménez de la Peña M, Rincón-Pérez I, López-Martín S, Albert J, Martín Fernández-Mayoralas D, Fernández-Perrone AL, Jiménez de Domingo A, Tirado P, Calleja-Pérez B, Porta J, Álvarez S, Fernández-Jaén A. Jiménez de la Peña M, et al. Among authors: porta j. Am J Med Genet A. 2024 Feb;194(2):211-217. doi: 10.1002/ajmg.a.63434. Epub 2023 Oct 5. Am J Med Genet A. 2024. PMID: 37795572
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Kalm T, Schob C, Völler H, Gardeitchik T, Gilissen C, Pfundt R, Klöckner C, Platzer K, Klabunde-Cherwon A, Ries M, Syrbe S, Beccaria F, Madia F, Scala M, Zara F, Hofstede F, Simon MEH, van Jaarsveld RH, Oegema R, van Gassen KLI, Holwerda SJB, Barakat TS, Bouman A, van Slegtenhorst M, Álvarez S, Fernández-Jaén A, Porta J, Accogli A, Mancardi MM, Striano P, Iacomino M, Chae JH, Jang S, Kim SY, Chitayat D, Mercimek-Andrews S, Depienne C, Kampmeier A, Kuechler A, Surowy H, Bertini ES, Radio FC, Mancini C, Pizzi S, Tartaglia M, Gauthier L, Genevieve D, Tharreau M, Azoulay N, Zaks-Hoffer G, Gilad NK, Orenstein N, Bernard G, Thiffault I, Denecke J, Herget T, Kortüm F, Kubisch C, Bähring R, Kindler S. Kalm T, et al. Among authors: porta j. Am J Hum Genet. 2024 Jun 6;111(6):1206-1221. doi: 10.1016/j.ajhg.2024.04.019. Epub 2024 May 20. Am J Hum Genet. 2024. PMID: 38772379 Free PMC article.
Zebra_K, a kinematic analysis automated platform for assessing sensitivity, habituation and prepulse inhibition of the acoustic startle response in adult zebrafish.
Stevanović M, Tagkalidou N, Multisanti CR, Pujol S, Aljabasini O, Prats E, Faggio C, Porta JM, Barata C, Raldúa D. Stevanović M, et al. Among authors: porta jm. Sci Total Environ. 2025 Jan 1;958:178028. doi: 10.1016/j.scitotenv.2024.178028. Epub 2024 Dec 15. Sci Total Environ. 2025. PMID: 39681027 Free article.
Telemedicine in the management of patients with headache: current situation and recommendations of the Spanish Society of Neurology's Headache Study Group.
Belvís R, Santos-Lasaosa S, Irimia P, Blanco RL, Torres-Ferrús M, Morollón N, López-Bravo A, García-Azorín D, Mínguez-Olaondo A, Guerrero Á, Porta J, Giné-Ciprés E, Sierra Á, Latorre G, González-Oria C, Pascual J, Ezpeleta D. Belvís R, et al. Among authors: porta j. Neurologia (Engl Ed). 2023 Nov-Dec;38(9):635-646. doi: 10.1016/j.nrleng.2023.10.001. Epub 2023 Oct 17. Neurologia (Engl Ed). 2023. PMID: 37858888 Free article.
Molecular architecture of the human caveolin-1 complex.
Porta JC, Han B, Gulsevin A, Chung JM, Peskova Y, Connolly S, Mchaourab HS, Meiler J, Karakas E, Kenworthy AK, Ohi MD. Porta JC, et al. Sci Adv. 2022 May 13;8(19):eabn7232. doi: 10.1126/sciadv.abn7232. Epub 2022 May 11. Sci Adv. 2022. PMID: 35544577 Free PMC article.
124 results