Similar articles for PMID: 29754261

Year	Number of Results
1882	1
1924	1
1993	1
1996	1
2000	2
2004	3
2005	1
2006	5
2007	3
2008	3
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2011	3
2012	4
2013	2
2014	9
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2016	9
2017	11
2018	10
2019	7
2020	14
2021	17
2022	11
2023	4
2024	0

1

Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia.

Steenhof M, Kibæk M, Larsen MJ, Christensen M, Lund AM, Brusgaard K, Hertz JM. Steenhof M, et al. Neurogenetics. 2018 Aug;19(3):145-149. doi: 10.1007/s10048-018-0547-7. Epub 2018 May 12. Neurogenetics. 2018. PMID: 29754261

2

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, Kennerson M, Gaussen M, Schule R, Janin M, Morice-Picard F, Durand CM, Depienne C, Calvas P, Coutinho P, Saudubray JM, Rouleau G, Brice A, Nicholson G, Darios F, Loureiro JL, Zuchner S, Ottolenghi C, Mochel F, Stevanin G. Coutelier M, et al. Brain. 2015 Aug;138(Pt 8):2191-205. doi: 10.1093/brain/awv143. Epub 2015 May 29. Brain. 2015. PMID: 26026163 Free PMC article.

3

Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1.

Kalmár T, Maróti Z, Zimmermann A, Sztriha L. Kalmár T, et al. Brain Dev. 2021 Jan;43(1):144-151. doi: 10.1016/j.braindev.2020.07.015. Epub 2020 Aug 11. Brain Dev. 2021. PMID: 32798076 Free article.

4

Δ¹ -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder.

Marco-Marín C, Escamilla-Honrubia JM, Llácer JL, Seri M, Panza E, Rubio V. Marco-Marín C, et al. J Inherit Metab Dis. 2020 Jul;43(4):657-670. doi: 10.1002/jimd.12220. Epub 2020 Feb 9. J Inherit Metab Dis. 2020. PMID: 32017139 Review.

5

SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report.

Koh K, Takaki R, Ishiura H, Tsuji S, Takiyama Y. Koh K, et al. BMC Neurol. 2021 Feb 11;21(1):64. doi: 10.1186/s12883-021-02087-x. BMC Neurol. 2021. PMID: 33573605 Free PMC article.

6

P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9.

Magini P, Marco-Marin C, Escamilla-Honrubia JM, Martinelli D, Dionisi-Vici C, Faravelli F, Forzano F, Seri M, Rubio V, Panza E. Magini P, et al. Ann Clin Transl Neurol. 2019 Aug;6(8):1533-1540. doi: 10.1002/acn3.50821. Epub 2019 Jul 19. Ann Clin Transl Neurol. 2019. PMID: 31402623 Free PMC article.

7

Autosomal dominant SPG9: intrafamilial variability and onset during pregnancy.

Marelli C, Badiou S, Genestet S, Larrieu L, Damier P, Camu W, Planes M, Koenig M, Guissart C. Marelli C, et al. Neurol Sci. 2020 Jul;41(7):1931-1933. doi: 10.1007/s10072-020-04341-5. Epub 2020 Mar 28. Neurol Sci. 2020. PMID: 32221810 Free article.

8

Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment.

Koh K, Ishiura H, Beppu M, Shimazaki H, Ichinose Y, Mitsui J, Kuwabara S, Tsuji S, Takiyama Y; Japan Spastic Paraplegia Research Consortium. Koh K, et al. J Hum Genet. 2018 Sep;63(9):1009-1013. doi: 10.1038/s10038-018-0477-0. Epub 2018 Jun 18. J Hum Genet. 2018. PMID: 29915212 Clinical Trial.

9

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.

Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, Krüger U, Zemojtel T, van Ravenswaaij-Arts C, Mostafavi R, Stolte-Dijkstra I, Symoens S, Pajunen L, Al-Gazali L, Meierhofer D, Robinson PN, Mundlos S, Villarroel CE, Byers P, Masri A, Robertson SP, Schwarze U, Callewaert B, Reversade B, Kornak U. Fischer-Zirnsak B, et al. Am J Hum Genet. 2015 Sep 3;97(3):483-92. doi: 10.1016/j.ajhg.2015.08.001. Epub 2015 Aug 27. Am J Hum Genet. 2015. PMID: 26320891 Free PMC article.

10

Novel Compound Missense and Intronic Splicing Mutation in ALDH18A1 Causes Autosomal Recessive Spastic Paraplegia.

Chen YJ, Zhang ZQ, Wang MW, Qiu YS, Yuan RY, Dong EL, Zhao Z, Zhou HT, Wang N, Chen WJ, Lin X. Chen YJ, et al. Front Neurol. 2021 May 19;12:627531. doi: 10.3389/fneur.2021.627531. eCollection 2021. Front Neurol. 2021. PMID: 34093392 Free PMC article.

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