174 related articles for article (PubMed ID: 38640304)
1. A novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report.
Liu J; Wang X; Huang D; Qi Y; Xu L; Shao Y
Medicine (Baltimore); 2024 Apr; 103(16):e37874. PubMed ID: 38640304
[TBL] [Abstract][Full Text] [Related]
2. Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy.
Luo WJ; Wei Q; Dong HL; Yan YT; Chen MJ; Li HF
Mol Genet Genomic Med; 2020 Jan; 8(1):e1065. PubMed ID: 31777199
[TBL] [Abstract][Full Text] [Related]
3. Investigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia phenotype.
Hsu SL; Chen YH; Chou CT; Chou YT; Tsai YS; Hsiao CT; Liao YC; Lee YC
Parkinsonism Relat Disord; 2021 Nov; 92():7-12. PubMed ID: 34649108
[TBL] [Abstract][Full Text] [Related]
4. Clinical, neuroimaging, biochemical, and genetic features in six Chinese patients with Adrenomyeloneuropathy.
Li J; Wang H; He Z; Wang X; Tang J; Huang D
BMC Neurol; 2019 Sep; 19(1):227. PubMed ID: 31526374
[TBL] [Abstract][Full Text] [Related]
5. Case report of dysregulation of primary bile acid synthesis in a family with X-linked adrenoleukodystrophy.
Płatek T; Orso E; Zapała B; Polus A; Kieć-Wilk B; Piwowar M; Chojnacka M; Ciałowicz U; Malczewska-Malec M; Schmitz G; Solnica B; Dembińska-Kieć A
Medicine (Baltimore); 2018 Dec; 97(49):e13353. PubMed ID: 30544401
[TBL] [Abstract][Full Text] [Related]
6. A novel ABCD1 mutation detected by next generation sequencing in presumed hereditary spastic paraplegia: A 30-year diagnostic delay caused by misleading biochemical findings.
Koutsis G; Lynch DS; Tucci A; Houlden H; Karadima G; Panas M
J Neurol Sci; 2015 Aug; 355(1-2):199-201. PubMed ID: 26049658
[TBL] [Abstract][Full Text] [Related]
7. Adrenomyeloneuropathy manifesting as adrenal insufficiency and bilateral lower extremity spastic paraplegia: A case report and literature review.
Chen Y; Li D; Xu P; Zhang A; Chen X; Chen Y
Medicine (Baltimore); 2024 Jan; 103(2):e36946. PubMed ID: 38215098
[TBL] [Abstract][Full Text] [Related]
8. ABCD1 translation-initiator mutation demonstrates genotype-phenotype correlation for AMN.
O'Neill GN; Aoki M; Brown RH
Neurology; 2001 Dec; 57(11):1956-62. PubMed ID: 11739809
[TBL] [Abstract][Full Text] [Related]
9. [X-linked adrenoleukodystrophy].
Aubourg P
Ann Endocrinol (Paris); 2007 Dec; 68(6):403-11. PubMed ID: 17532287
[TBL] [Abstract][Full Text] [Related]
10. Drug discovery for X-linked adrenoleukodystrophy: An unbiased screen for compounds that lower very long-chain fatty acids.
Moser AB; Liu Y; Shi X; Schrifl U; Hiebler S; Fatemi A; Braverman NE; Steinberg SJ; Watkins PA
J Cell Biochem; 2021 Oct; 122(10):1337-1349. PubMed ID: 34056752
[TBL] [Abstract][Full Text] [Related]
11. Adrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in ABCD1.
Takegami N; Matsukawa T; Hamada M; Tanifuji S; Tamura T; Yamaguchi-Takegami N; Ishiura H; Mitsui J; Sakuishi K; Tsuji S; Toda T
Intern Med; 2024 Apr; 63(7):999-1004. PubMed ID: 37558478
[TBL] [Abstract][Full Text] [Related]
12. Chinese patients with adrenoleukodystrophy and Zellweger spectrum disorder presenting with hereditary spastic paraplegia.
Chen YJ; Wang MW; Dong EL; Lin XH; Wang N; Zhang ZQ; Lin X; Chen WJ
Parkinsonism Relat Disord; 2019 Aug; 65():256-260. PubMed ID: 31227335
[TBL] [Abstract][Full Text] [Related]
13. X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans.
Curiel J; Steinberg SJ; Bright S; Snowden A; Moser AB; Eichler F; Dubbs HA; Hacia JG; Ely JJ; Bezner J; Gean A; Vanderver A
Mol Genet Metab; 2017 Nov; 122(3):130-133. PubMed ID: 28919002
[TBL] [Abstract][Full Text] [Related]
14. Therapeutic potential of deuterium-stabilized (R)-pioglitazone-PXL065-for X-linked adrenoleukodystrophy.
Monternier PA; Singh J; Parasar P; Theurey P; DeWitt S; Jacques V; Klett E; Kaur N; Nagaraja TN; Moller DE; Hallakou-Bozec S
J Inherit Metab Dis; 2022 Jul; 45(4):832-847. PubMed ID: 35510808
[TBL] [Abstract][Full Text] [Related]
15. Novel mutations in the ABCD1 gene caused adrenomyeloneuropathy in the Chinese population.
He R; Zhang J; Huang T; Cai G; Zou Z; Ye Q
Front Neurol; 2023; 14():1126729. PubMed ID: 36925939
[TBL] [Abstract][Full Text] [Related]
16. A novel ABCD1 gene mutation causes adrenomyeloneuropathy in a Chinese family.
Wang C; Liu H; Han B; Zhu H; Liu J
Brain Behav; 2019 Oct; 9(10):e01416. PubMed ID: 31557422
[TBL] [Abstract][Full Text] [Related]
17. X-linked adrenoleukodystrophy and primary adrenal insufficiency.
Cappa M; Todisco T; Bizzarri C
Front Endocrinol (Lausanne); 2023; 14():1309053. PubMed ID: 38034003
[TBL] [Abstract][Full Text] [Related]
18. A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy.
Wiens K; Berry SA; Choi H; Gaviglio A; Gupta A; Hietala A; Kenney-Jung D; Lund T; Miller W; Pierpont EI; Raymond G; Winslow H; Zierhut HA; Orchard PJ
Am J Med Genet A; 2019 Jul; 179(7):1205-1213. PubMed ID: 31074578
[TBL] [Abstract][Full Text] [Related]
19. Novel ABCD1 variant causes phenotype of adrenomyeloneuropathy with cerebral involvement in Ukrainian siblings: first adult hematopoietic stem cell transplantation for ALD in Ukraine: a case report.
Shchubelka K; Herasymenko O; Budzyn A; Lysytsia O; Rusyn A; Oleksyk O; Tynta S; Oleksyk T
J Med Case Rep; 2024 Jan; 18(1):25. PubMed ID: 38245786
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
