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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 May 14:S0002-9297(24)00160-5. doi: 10.1016/j.ajhg.2024.04.019. Online ahead of print. Am J Hum Genet. 2024. PMID: 38772379
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.
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
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.
123 results