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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2020 | 2 |
2022 | 1 |
2023 | 3 |
2024 | 0 |
Search Results
6 results
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Page 1
Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions.
Biomolecules. 2023 Feb 1;13(2):274. doi: 10.3390/biom13020274.
Biomolecules. 2023.
PMID: 36830643
Free PMC article.
Review.
Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency.
Nagree MS, Rybova J, Kleynerman A, Ahrenhoerster CJ, Saville JT, Xu T, Bachochin M, McKillop WM, Lawlor MW, Pshezhetsky AV, Isaeva O, Budde MD, Fuller M, Medin JA.
Nagree MS, et al.
Commun Biol. 2023 May 25;6(1):560. doi: 10.1038/s42003-023-04932-w.
Commun Biol. 2023.
PMID: 37231125
Free PMC article.
Item in Clipboard
The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile.
Lee MM, McDowell GSV, De Vivo DC, Friedman D, Berkovic SF, Spanou M, Dinopoulos A, Grand K, Sanchez-Lara PA, Allen-Sharpley M, Warman-Chardon J, Solyom A, Levade T, Schuchman EH, Bennett SAL, Dyment DA, Pearson TS.
Lee MM, et al.
Ann Clin Transl Neurol. 2022 Dec;9(12):1941-1952. doi: 10.1002/acn3.51687. Epub 2022 Nov 3.
Ann Clin Transl Neurol. 2022.
PMID: 36325744
Free PMC article.
Review.
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Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum.
Najafi A, Tasharrofi B, Zandsalimi F, Rasulinezhad M, Ghahvechi Akbari M, Zamani G, Ashrafi MR, Heidari M.
Najafi A, et al.
Ital J Pediatr. 2023 Jun 6;49(1):64. doi: 10.1186/s13052-023-01474-z.
Ital J Pediatr. 2023.
PMID: 37280710
Free PMC article.
Item in Clipboard
ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.
Mahmoud IG, Elmonem MA, Zaki MS, Ramadan A, Al-Menabawy NM, El-Gamal A, Mansour L, Issa MY, Abdel-Hamid MS, Abdel-Hady S, Khalifa I, Ibrahim A, Solyom A, Rolfs A, Selim L.
Mahmoud IG, et al.
Clin Genet. 2020 Dec;98(6):598-605. doi: 10.1111/cge.13834. Epub 2020 Sep 2.
Clin Genet. 2020.
PMID: 32875576
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Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content.
Kyriakou K, Lederer CW, Kleanthous M, Drousiotou A, Malekkou A.
Kyriakou K, et al.
Int J Mol Sci. 2020 Feb 26;21(5):1607. doi: 10.3390/ijms21051607.
Int J Mol Sci. 2020.
PMID: 32111095
Free PMC article.
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