Related Articles by Review for PMID: 22703880

Year	Number of Results
1993	2
2000	1
2002	1
2007	1
2012	1
2015	1
2016	1
2018	3
2019	1
2020	1
2021	1
2022	3
2023	1
2024	0

1

Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.

Zhou J, Tawk M, Tiziano FD, Veillet J, Bayes M, Nolent F, Garcia V, Servidei S, Bertini E, Castro-Giner F, Renda Y, Carpentier S, Andrieu-Abadie N, Gut I, Levade T, Topaloglu H, Melki J. Zhou J, et al. Am J Hum Genet. 2012 Jul 13;91(1):5-14. doi: 10.1016/j.ajhg.2012.05.001. Epub 2012 Jun 14. Am J Hum Genet. 2012. PMID: 22703880 Free PMC article.

2

Spinal muscular atrophy associated with progressive myoclonus epilepsy.

Topaloglu H, Melki J. Topaloglu H, et al. Epileptic Disord. 2016 Sep 1;18(S2):128-134. doi: 10.1684/epd.2016.0858. Epileptic Disord. 2016. PMID: 27647482 Review.

3

Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature.

Karimzadeh P, Najmabadi H, Lochmuller H, Babaee M, Dehdahsi S, Miryounesi M, Amirsalari S, Rayegani SM, Tonekaboni SH. Karimzadeh P, et al. Neuromuscul Disord. 2022 Oct;32(10):806-810. doi: 10.1016/j.nmd.2022.08.002. Epub 2022 Aug 6. Neuromuscul Disord. 2022. PMID: 36309462 Review.

4

ASAH1-Related Disorders.

Dyment DA, Bennett SAL, Medin JA, Levade T. Dyment DA, et al. 2018 Mar 29. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2018 Mar 29. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 29595935 Free Books & Documents. Review.

5

Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions.

Kleynerman A, Rybova J, Faber ML, McKillop WM, Levade T, Medin JA. Kleynerman A, et al. Biomolecules. 2023 Feb 1;13(2):274. doi: 10.3390/biom13020274. Biomolecules. 2023. PMID: 36830643 Free PMC article. Review.

6

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.

7

Acid ceramidase deficiency: Farber disease and SMA-PME.

Yu FPS, Amintas S, Levade T, Medin JA. Yu FPS, et al. Orphanet J Rare Dis. 2018 Jul 20;13(1):121. doi: 10.1186/s13023-018-0845-z. Orphanet J Rare Dis. 2018. PMID: 30029679 Free PMC article. Review.

8

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).

Wirth B. Wirth B. Hum Mutat. 2000;15(3):228-37. doi: 10.1002/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9. Hum Mutat. 2000. PMID: 10679938 Review.

9

The molecular medicine of acid ceramidase.

Frohbergh M, He X, Schuchman EH. Frohbergh M, et al. Biol Chem. 2015 Jun;396(6-7):759-65. doi: 10.1515/hsz-2014-0290. Biol Chem. 2015. PMID: 25938220 Review.

10

[Spinal muscular atrophy in childhood. Possibilities and limits of clinical and molecular genetic diagnosis].

Zerres K, Rudnik-Schöneborn S, Röhrig D, Wirth B. Zerres K, et al. Monatsschr Kinderheilkd. 1993 Nov;141(11):848-54. Monatsschr Kinderheilkd. 1993. PMID: 8283989 Review. German.

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