201 related articles for article (PubMed ID: 30658899)
21. 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]
22. CRISPR/Cas9-mediated knockout of Abcd1 and Abcd2 genes in BV-2 cells: novel microglial models for X-linked Adrenoleukodystrophy.
Raas Q; Gondcaille C; Hamon Y; Leoni V; Caccia C; Ménétrier F; Lizard G; Trompier D; Savary S
Biochim Biophys Acta Mol Cell Biol Lipids; 2019 May; 1864(5):704-714. PubMed ID: 30769094
[TBL] [Abstract][Full Text] [Related]
23. Adrenomyeloneuropathy: report of a new mutation in a French Canadian female.
Dionne A; Brunet D; McCampbell A; Dupré N
Can J Neurol Sci; 2005 May; 32(2):261-3. PubMed ID: 16018167
[TBL] [Abstract][Full Text] [Related]
24. Generation of an induced pluripotent stem cell (iPSC) line from a 42-year-old adult cerebral type X-linked adrenoleukodystrophy (X-ALD) patient.
Yeon GB; Son D; Kang PJ; Oh SM; Lim H; Kang HC; You S; Kim DS
Stem Cell Res; 2019 Apr; 36():101425. PubMed ID: 30921588
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy.
Niu YF; Ni W; Wu ZY
Gene; 2013 Jun; 522(1):117-20. PubMed ID: 23566833
[TBL] [Abstract][Full Text] [Related]
27. Mutational analyses of Taiwanese kindred with X-linked adrenoleukodystrophy.
Chiu HC; Liang JS; Wang JS; Lu JF
Pediatr Neurol; 2006 Oct; 35(4):250-6. PubMed ID: 16996397
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy.
Guettsches AK; Kuechler A; Gal A; Schmitz W; Tegenthoff M; Vorgerd M
J Neurol; 2010 Aug; 257(8):1394-5. PubMed ID: 20195870
[TBL] [Abstract][Full Text] [Related]
30. Mutational analyses on X-linked adrenoleukodystrophy reveal a novel cryptic splicing and three missense mutations in the ABCD1 gene.
Hung KL; Wang JS; Keng WT; Chen HJ; Liang JS; Ngu LH; Lu JF
Pediatr Neurol; 2013 Sep; 49(3):185-90. PubMed ID: 23835273
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. [Screening for carrier and prenatal diagnosis of X-linked adrenoleukodystrophy].
Wang AH; Bao XH; Xiong H; Pan H; Wu Y; Zhang YH; Shi CY; Qin J; Wu XR
Zhonghua Er Ke Za Zhi; 2005 May; 43(5):345-9. PubMed ID: 15924749
[TBL] [Abstract][Full Text] [Related]
33. Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene.
Sutovský S; Petrovic R; Chandoga J; Turcáni P
J Neurol Sci; 2007 Dec; 263(1-2):149-53. PubMed ID: 17662307
[TBL] [Abstract][Full Text] [Related]
34. Molecular characterization of X-linked adrenoleukodystrophy in a Tunisian family: identification of a novel missense mutation in the ABCD1 gene.
Kallabi F; Hadj Salem I; Ben Salah G; Ben Turkia H; Ben Chehida A; Tebib N; Fakhfakh F; Kamoun H
Neurodegener Dis; 2013; 12(4):207-11. PubMed ID: 23651979
[TBL] [Abstract][Full Text] [Related]
35. [X-linked adrenoleukodystrophy: A case of acute childhood cerebral presentation].
Posada Bustos S; Charry Lopez ML; Espinosa García E
Andes Pediatr; 2021 Aug; 92(4):602-608. PubMed ID: 34652380
[TBL] [Abstract][Full Text] [Related]
36. Clinical, biochemical, neuroimaging and molecular findings of X-linked Adrenoleukodystrophy patients in South China.
Jiang MY; Cai YN; Liang CL; Peng MZ; Sheng HY; Fan LP; Lin RZ; Jiang H; Huang Y; Liu L
Metab Brain Dis; 2015 Dec; 30(6):1439-44. PubMed ID: 26260157
[TBL] [Abstract][Full Text] [Related]
37. A novel missense mutation in the ABCD1 gene of a Chinese boy diagnosed with X-linked adrenoleukodystrophy: case report.
Zhang M; Shi S; Zhang H; Liu L; Wu L; Xiao B; Liu W
Neurol Sci; 2019 May; 40(5):1093-1096. PubMed ID: 30343438
[No Abstract] [Full Text] [Related]
38. Metformin-induced mitochondrial function and ABCD2 up-regulation in X-linked adrenoleukodystrophy involves AMP-activated protein kinase.
Singh J; Olle B; Suhail H; Felicella MM; Giri S
J Neurochem; 2016 Jul; 138(1):86-100. PubMed ID: 26849413
[TBL] [Abstract][Full Text] [Related]
39. [Genetic analysis of a pedigree affected with X-linked adrenoleukodystrophy].
Pan Q; Zheng X; Cen Z; Luo W
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Nov; 36(11):1104-1106. PubMed ID: 31703136
[TBL] [Abstract][Full Text] [Related]
40. Differing clinical presentations of two unrelated cases of X-linked adrenoleukodystrophy with identical mutation Y296C in the ABCD1 gene.
Sutovský S; Kolníková M; Petrovic R; Kollár B; Siarnik P; Chandoga J; Fischerová M; Turcáni P
Neuro Endocrinol Lett; 2014; 35(5):411-6. PubMed ID: 25275259
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
