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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: alvarez s. 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
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, alvarez s. 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
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: alvarez s. 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.
ZDHHC15 as a candidate gene for autism spectrum disorder.
Casellas-Vidal D, Mademont-Soler I, Sánchez J, Plaja A, Castells N, Camós M, Nieto-Moragas J, Del Mar García M, Rodriguez-Solera C, Rivera H, Brunet J, Álvarez S, Perapoch J, Queralt X, Obón M. Casellas-Vidal D, et al. Among authors: alvarez s. Am J Med Genet A. 2023 Apr;191(4):941-947. doi: 10.1002/ajmg.a.63099. Epub 2022 Dec 23. Am J Med Genet A. 2023. PMID: 36565021
Variant rs4149584 (R92Q) of the TNFRSF1A gene in patients with familial multiple sclerosis.
Gomez-Pinedo U, Matías-Guiu JA, Torre-Fuentes L, Montero-Escribano P, Hernández-Lorenzo L, Pytel V, Maietta P, Alvarez S, Sanclemente-Alamán I, Moreno-Jimenez L, Ojeda-Hernandez D, Villar-Gómez N, Benito-Martin MS, Selma-Calvo B, Vidorreta-Ballesteros L, Madrid R, Matías-Guiu J. Gomez-Pinedo U, et al. Among authors: alvarez s. Neurologia (Engl Ed). 2022 Aug 10:S2173-5808(22)00087-6. doi: 10.1016/j.nrleng.2022.07.002. Online ahead of print. Neurologia (Engl Ed). 2022. PMID: 35963536 Free article.
Clinical manifestations of episodic ataxia type 5.
González Sánchez M, Izquierdo S, Álvarez S, Bautista Alonso RE, Berciano J, Gazulla J. González Sánchez M, et al. Among authors: alvarez s. Neurol Clin Pract. 2019 Dec;9(6):503-504. doi: 10.1212/CPJ.0000000000000697. Neurol Clin Pract. 2019. PMID: 32042491 Free PMC article. No abstract available.
Hereditary primary lateral sclerosis and progressive nonfluent aphasia.
Gazulla J, Ferrer I, Izquierdo-Alvarez S, Alvarez S, Sánchez-Alcudia R, Bestué-Cardiel M, Seral M, Benavente I, Sierra-Martínez E, Berciano J. Gazulla J, et al. Among authors: alvarez s. J Neurol. 2019 May;266(5):1079-1090. doi: 10.1007/s00415-019-09235-x. Epub 2019 Mar 5. J Neurol. 2019. PMID: 30834979 Free article.
1,279 results