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Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.
Lines MA, Goldenberg P, Wong A, Srivastava S, Bayat A, Hove H, Karstensen HG, Anyane-Yeboa K, Liao J, Jiang N, May A, Guzman E, Morleo M, D'Arrigo S, Ciaccio C, Pantaleoni C, Castello R; TUDP Study Group; McKee S, Ong J, Zibdeh-Lough H, Tran-Mau-Them F, Gerasimenko A, Heron D, Keren B, Margot H, de Sainte Agathe JM, Burglen L, Voets T, Vriens J, Innes AM, Dyment DA. Lines MA, et al. Among authors: may a. Am J Med Genet A. 2022 Jun;188(6):1667-1675. doi: 10.1002/ajmg.a.62673. Epub 2022 Feb 10. Am J Med Genet A. 2022. PMID: 35146895
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J; Undiagnosed Diseases Network; Genomics England Research Consortium; Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN. Cousin MA, et al. Among authors: may as. Nat Genet. 2021 Jul;53(7):1006-1021. doi: 10.1038/s41588-021-00886-z. Epub 2021 Jul 1. Nat Genet. 2021. PMID: 34211179 Free PMC article.
These phenotypes, while less severe, are observed in haploinsufficient animals, suggesting that individuals carrying heterozygous SPTBN1 variants may also show measurable compromise of neural development and function. ...We show that these SPTBN1 variants lead to effects t …
These phenotypes, while less severe, are observed in haploinsufficient animals, suggesting that individuals carrying heterozygous SPTBN1 var …
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.
White SM, Bhoj E, Nellåker C, Lachmeijer AMA, Marshall AE, Boycott KM, Li D, Smith W, Hartley T, McBride A, Ernst ME, May AS, Wieczorek D, Abou Jamra R, Koch-Hogrebe M, Õunap K, Pajusalu S, van Gassen KLI, Sadedin S, Ellingwood S, Tan TY, Christodoulou J, Barea J, Lockhart PJ; Care4Rare Canada Consortium; Nezarati MM, Kernohan KD. White SM, et al. Among authors: may as. Am J Hum Genet. 2021 Apr 1;108(4):749-756. doi: 10.1016/j.ajhg.2021.03.007. Epub 2021 Mar 19. Am J Hum Genet. 2021. PMID: 33743206 Free PMC article.
Neuro-behçet disease in an african american adolescent.
Merkler AE, Maciel CB, May AS, Vargas WS, Yohay K. Merkler AE, et al. Neurohospitalist. 2015 Jan;5(1):43-4. doi: 10.1177/1941874414530724. Neurohospitalist. 2015. PMID: 25553229 Free PMC article. No abstract available.
Redefining migraine prevention: early treatment with anti-CGRP monoclonal antibodies enhances response in the real world.
Caronna E, Gallardo VJ, Egeo G, Vázquez MM, Castellanos CN, Membrilla JA, Vaghi G, Rodríguez-Montolio J, Fabregat Fabra N, Sánchez-Caballero F, Jaimes Sánchez A, Muñoz-Vendrell A, Oliveira R, Gárate G, González-Osorio Y, Guisado-Alonso D, Ornello R, Thunstedt C, Fernández-Lázaro I, Torres-Ferrús M, Alpuente A, Torelli P, Aurilia C, Pére RL, Castrillo MJR, Icco R, Sances G, Broadhurst S, Ong HC, García AG, Campoy S, Sanahuja J, Cabral G, Beltrán Blasco I, Waliszewska-Prosół M, Pereira L, Layos-Romero A, Luzeiro I, Dorado L, Álvarez Escudero MR, May A, López-Bravo A, Martins IP, Sundal C, Irimia P, Lozano Ros A, Gago-Veiga AB, Juanes FV, Ruscheweyh R, Sacco S, Cuadrado-Godia E, García-Azorín D, Pascual J, Gil-Gouveia R, Huerta-Villanueva M, Rodriguez-Vico J, Viguera Romero J, Obach V, Santos-Lasaosa S, Ghadiri-Sani M, Tassorelli C, Díaz-de-Terán J, Díaz Insa S, Oria CG, Barbanti P, Pozo-Rosich P; EUREkA study group. Caronna E, et al. Among authors: may a. J Neurol Neurosurg Psychiatry. 2024 May 22:jnnp-2023-333295. doi: 10.1136/jnnp-2023-333295. Online ahead of print. J Neurol Neurosurg Psychiatry. 2024. PMID: 38777579
Receptor-mediated cargo hitchhiking on bulk autophagy.
Takeda E, Isoda T, Hosokawa S, Oikawa Y, Hotta-Ren S, May AI, Ohsumi Y. Takeda E, et al. Among authors: may ai. EMBO J. 2024 May 16. doi: 10.1038/s44318-024-00091-8. Online ahead of print. EMBO J. 2024. PMID: 38755257 Free article.
2,534 results