PubMed for id: 901885

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Results by year

Year	Number of Results
1992	1
2013	2
2014	51
2015	50
2016	56
2017	54
2018	46
2019	54
2020	50
2021	80
2022	63
2023	42

500 results

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Page 1

Localization of non-specific X-linked mental retardation genes.

Kerr B, Gedeon A, Mulley J, Turner G. Kerr B, et al. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):392-401. doi: 10.1002/ajmg.1320430160. Am J Med Genet. 1992. PMID: 1605217

[Analysis of clinical characteristics and ATP7A gene variants in a Chinese pedigree affected with Menkes disease].

Zhang J, Gan J, Yang Z, Wang J. Zhang J, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Dec 10;40(12):1504-1507. doi: 10.3760/cma.j.cn511374-20220629-00442. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37994131 Chinese.

Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy.

Gragnaniello V, Gueraldi D, Puma A, Commone A, Cazzorla C, Loro C, Porcù E, Stornaiuolo M, Miglioranza P, Salviati L, Wanders RJA, Burlina A. Gragnaniello V, et al. Orphanet J Rare Dis. 2023 Nov 16;18(1):358. doi: 10.1186/s13023-023-02940-x. Orphanet J Rare Dis. 2023. PMID: 37974207 Free PMC article.

X-linked cerebral adrenoleukodystrophy.

Weldrick CL, Boers P, Kiely P, O'Halloran L. Weldrick CL, et al. BMJ Case Rep. 2023 Oct 31;16(10):e237905. doi: 10.1136/bcr-2020-237905. BMJ Case Rep. 2023. PMID: 37907311

Deciphering neuronal deficit and protein profile changes in human brain organoids from patients with creatine transporter deficiency.

Broca-Brisson L, Harati R, Disdier C, Mozner O, Gaston-Breton R, Maïza A, Costa N, Guyot AC, Sarkadi B, Apati A, Skelton MR, Madrange L, Yates F, Armengaud J, Hamoudi R, Mabondzo A. Broca-Brisson L, et al. Elife. 2023 Oct 13;12:RP88459. doi: 10.7554/eLife.88459. Elife. 2023. PMID: 37830910 Free PMC article.

Exploration of SUMO2/3 Expression Levels and Autophagy Process in Fragile X-Associated Tremor/Ataxia Syndrome: Addressing Study Limitations and Insights for Future Research.

Alvarez-Mora MI, Garrabou G, Molina-Porcel L, Grillo-Risco R, Garcia-Garcia F, Barcos T, Cantó-Santos J, Rodriguez-Revenga L. Alvarez-Mora MI, et al. Cells. 2023 Sep 26;12(19):2364. doi: 10.3390/cells12192364. Cells. 2023. PMID: 37830578 Free PMC article.

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.

Tassone F, Protic D, Allen EG, Archibald AD, Baud A, Brown TW, Budimirovic DB, Cohen J, Dufour B, Eiges R, Elvassore N, Gabis LV, Grudzien SJ, Hall DA, Hessl D, Hogan A, Hunter JE, Jin P, Jiraanont P, Klusek J, Kooy RF, Kraan CM, Laterza C, Lee A, Lipworth K, Losh M, Loesch D, Lozano R, Mailick MR, Manolopoulos A, Martinez-Cerdeno V, McLennan Y, Miller RM, Montanaro FAM, Mosconi MW, Potter SN, Raspa M, Rivera SM, Shelly K, Todd PK, Tutak K, Wang JY, Wheeler A, Winarni TI, Zafarullah M, Hagerman RJ. Tassone F, et al. Cells. 2023 Sep 21;12(18):2330. doi: 10.3390/cells12182330. Cells. 2023. PMID: 37759552 Free PMC article. Review.

Targeting NHE6 gene expression identifies lysosome and neurodevelopmental mechanisms in a haploid in vitro cell model.

Wu Q, Ma L, Joesch-Cohen L, Schmidt M, Uzun EDG, Morrow EM. Wu Q, et al. Biol Open. 2023 Nov 15;12(11):bio059778. doi: 10.1242/bio.059778. Epub 2023 Nov 29. Biol Open. 2023. PMID: 37747131 Free PMC article.

Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach.

Pascual-Alonso A, Xiol C, Smirnov D, Kopajtich R, Prokisch H, Armstrong J. Pascual-Alonso A, et al. Hum Genomics. 2023 Sep 15;17(1):85. doi: 10.1186/s40246-023-00532-1. Hum Genomics. 2023. PMID: 37710353 Free PMC article.

Further characterization of CEP85L-associated lissencephaly type 10: Report of a three-generation family and review of the literature.

Leduc-Pessah H, White-Brown A, Miller E, McMillan HJ, Boycott KM. Leduc-Pessah H, et al. Am J Med Genet A. 2023 Dec;191(12):2878-2883. doi: 10.1002/ajmg.a.63380. Epub 2023 Aug 25. Am J Med Genet A. 2023. PMID: 37621218 Review.

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