PubMed for id: 1619876

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Results by year

Year	Number of Results
2012	1
2022	1
2023	267
2024	353

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Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.

Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F; NP-C Guidelines Working Group. Patterson MC, et al. Mol Genet Metab. 2012 Jul;106(3):330-44. doi: 10.1016/j.ymgme.2012.03.012. Epub 2012 May 8. Mol Genet Metab. 2012. PMID: 22572546

Metabolic and neurobehavioral disturbances induced by purine recycling deficiency in Drosophila.

Petitgas C, Seugnet L, Dulac A, Matassi G, Mteyrek A, Fima R, Strehaiano M, Dagorret J, Chérif-Zahar B, Marie S, Ceballos-Picot I, Birman S. Petitgas C, et al. Elife. 2024 May 3;12:RP88510. doi: 10.7554/eLife.88510. Elife. 2024. PMID: 38700995 Free PMC article.

First parechovirus reported case in Saudi Arabia in hospitalized immunocompromised adult patient.

Alshammari A, Alotaibi J, Almaghrabi R, Bawazeer R, Althawadi S, Tayeb H. Alshammari A, et al. Virol J. 2024 May 2;21(1):102. doi: 10.1186/s12985-024-02372-4. Virol J. 2024. PMID: 38698421 Free PMC article.

Aneuploidy is Linked to Neurological Phenotypes Through Oxidative Stress.

Islam A, Shaukat Z, Hussain R, Ricos MG, Dibbens LM, Gregory SL. Islam A, et al. J Mol Neurosci. 2024 May 2;74(2):50. doi: 10.1007/s12031-024-02227-1. J Mol Neurosci. 2024. PMID: 38693434 Free PMC article.

[Genetic analysis of a child with Multiple congenital anomalies-hypotonia-seizures syndrome 1 due to variant of PIGN gene].

Wang B, Sui J, Dong J, Zhang X, Han M, Liu S. Wang B, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 May 10;41(5):565-570. doi: 10.3760/cma.j.cn511374-20230427-00249. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 38684302 Chinese.

Association of Clinical, Tumor, and Treatment Characteristics With Seizure Control in Patients With IDH1/2-Mutant Lower-Grade Glioma.

Bruno F, Pellerino A, Conti Nibali M, Pronello E, Cofano F, Rossi M, Levis M, Bertero L, Soffietti R, Cassoni P, Garbossa D, Bello L, Rudà R. Bruno F, et al. Neurology. 2024 May;102(10):e209352. doi: 10.1212/WNL.0000000000209352. Epub 2024 Apr 29. Neurology. 2024. PMID: 38684041

22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.

de Wallau MB, Xavier AC, Moreno CA, Kim CA, Mendes EL, Ribeiro EM, Oliveira A, Félix TM, Fett-Conte AC, Bonadia LC, Correia-Costa GR, Monlleó IL, Gil-da-Silva-Lopes VL, Vieira TP. de Wallau MB, et al. Genes (Basel). 2024 Apr 21;15(4):518. doi: 10.3390/genes15040518. Genes (Basel). 2024. PMID: 38674452 Free PMC article.

An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review.

Orsini A, Santangelo A, Carmignani A, Camporeale A, Massart F, Tyutyusheva N, Peroni DG, Foiadelli T, Ferretti A, Toschi B, Romano S, Bonuccelli A. Orsini A, et al. Genes (Basel). 2024 Mar 29;15(4):436. doi: 10.3390/genes15040436. Genes (Basel). 2024. PMID: 38674371 Free PMC article. Review.

Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder.

Cordova I, Blesson A, Savatt JM, Sveden A, Mahida S, Hazlett H, Rooney Riggs E, Chopra M; Brain Gene Registry Subset of the ClinGen Intellectual Disability and Autism Gene Curation Expert Panel. Cordova I, et al. Genes (Basel). 2024 Mar 28;15(4):423. doi: 10.3390/genes15040423. Genes (Basel). 2024. PMID: 38674358 Free PMC article. Review.

Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1.

Farhat NY, Alexander D, McKee K, Iben J, Rodriguez-Gil JL, Wassif CA, Cawley NX, Balch WE, Porter FD. Farhat NY, et al. Int J Mol Sci. 2024 Apr 11;25(8):4217. doi: 10.3390/ijms25084217. Int J Mol Sci. 2024. PMID: 38673803 Free PMC article.

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