389 related articles for article (PubMed ID: 17662307)
21. X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
Wang Y; Busin R; Reeves C; Bezman L; Raymond G; Toomer CJ; Watkins PA; Snowden A; Moser A; Naidu S; Bibat G; Hewson S; Tam K; Clarke JT; Charnas L; Stetten G; Karczeski B; Cutting G; Steinberg S
Mol Genet Metab; 2011; 104(1-2):160-6. PubMed ID: 21700483
[TBL] [Abstract][Full Text] [Related]
22. Epilepsy in adult X-linked adrenoleucodystrophy due to the deletion c.1415-1416delAG in exon 5 of the ABCD1-gene.
Brownstone E; Voigtländer T; Baumhackl U; Finsterer J
Gene; 2013 Jan; 513(1):71-4. PubMed ID: 23154058
[TBL] [Abstract][Full Text] [Related]
23. A novel ABCD1 gene mutation in a Chinese patient with X-linked adrenoleukodystrophy.
Cai YN; Jiang MY; Liang CL; Peng MZ; Cheng J; Sheng HY; Fan LP; Chen XQ; Liu L
J Pediatr Endocrinol Metab; 2015 May; 28(5-6):725-9. PubMed ID: 25423669
[TBL] [Abstract][Full Text] [Related]
24. [Mutational analysis of three Chinese pedigrees with adrenoleukodystrophy].
Huang LH; Zeng J; Yang BS; Huang HJ; Wu YS; Lan FH
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Jun; 21(3):193-7. PubMed ID: 15192815
[TBL] [Abstract][Full Text] [Related]
25. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.
Kemp S; Pujol A; Waterham HR; van Geel BM; Boehm CD; Raymond GV; Cutting GR; Wanders RJ; Moser HW
Hum Mutat; 2001 Dec; 18(6):499-515. PubMed ID: 11748843
[TBL] [Abstract][Full Text] [Related]
26. [Avoiding the interference of ABCD1 pseudogenes in the molecular diagnosis of X-linked adrenoleukodystrophy by double amplification refractory mutation system].
Wang ZH; Huang LH; Lan FH
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Oct; 23(5):558-60. PubMed ID: 17029209
[TBL] [Abstract][Full Text] [Related]
27. Intra familial phenotypical variations in adrenoleukodystrophy.
Gosalakkal J; Balky AP
Neurol India; 2010; 58(1):109-11. PubMed ID: 20228476
[TBL] [Abstract][Full Text] [Related]
28. Novel ABCD1 gene mutations in Iranian pedigrees with X-linked adrenoleukodystrophy.
Emamalizadeh B; Daneshmandpour Y; Tafakhori A; Ranji-Burachaloo S; Shafiee S; Ghods E; Darvish H
J Pediatr Endocrinol Metab; 2019 Nov; 32(11):1207-1215. PubMed ID: 31665121
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. Two novel missense mutations causing adrenoleukodystrophy in Italian patients.
Perusi C; Gomez-Lira M; Mottes M; Pignatti PF; Bertini E; Cappa M; Vigliani MC; Schiffer D; Rizzuto N; Salviati A
Mol Cell Probes; 1999 Jun; 13(3):179-82. PubMed ID: 10369742
[TBL] [Abstract][Full Text] [Related]
31. Three novel variants in X-linked adrenoleukodystrophy.
Shukla P; Gupta N; Kabra M; Ghosh M; Sharma R; Gupta AK; Gulati S; Kalra V
J Child Neurol; 2009 Jul; 24(7):857-60. PubMed ID: 19406751
[TBL] [Abstract][Full Text] [Related]
32. X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.
Engelen M; Barbier M; Dijkstra IM; Schür R; de Bie RM; Verhamme C; Dijkgraaf MG; Aubourg PA; Wanders RJ; van Geel BM; de Visser M; Poll-The BT; Kemp S
Brain; 2014 Mar; 137(Pt 3):693-706. PubMed ID: 24480483
[TBL] [Abstract][Full Text] [Related]
33. Lack of adrenoleukodystrophy protein enhances oligodendrocyte disturbance and microglia activation in mice with combined Abcd1/Mag deficiency.
Dumser M; Bauer J; Lassmann H; Berger J; Forss-Petter S
Acta Neuropathol; 2007 Dec; 114(6):573-86. PubMed ID: 17828604
[TBL] [Abstract][Full Text] [Related]
34. A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease.
Kallabi F; Ben Salah G; Ben Chehida A; Tabebi M; Felhi R; Ben Turkia H; Tebib N; Keskes L; Kamoun H
Biochem Cell Biol; 2016 Jun; 94(3):265-9. PubMed ID: 27248780
[TBL] [Abstract][Full Text] [Related]
35. Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy.
Shukla P; Gupta N; Gulati S; Ghosh M; Vasisht S; Sharma R; Gupta AK; Kalra V; Kabra M
Clin Chim Acta; 2011 Nov; 412(23-24):2289-95. PubMed ID: 21889498
[TBL] [Abstract][Full Text] [Related]
36. Novel
Cho YK; Lee SY; Kim SW
Endocrinol Metab (Seoul); 2020 Mar; 35(1):188-191. PubMed ID: 32207279
[TBL] [Abstract][Full Text] [Related]
37. A novel mutation in the ABCD1 gene of a Chinese patient with X-linked adrenoleukodystrophy: Case report.
Wang J; Zhu Q; Liu H
Medicine (Baltimore); 2018 May; 97(21):e10837. PubMed ID: 29794777
[TBL] [Abstract][Full Text] [Related]
38. A novel mutation in the ABCD1 gene of a Korean boy diagnosed with X-linked adrenoleukodystrophy.
Park JA; Jun KR; Han SH; Kim GH; Yoo HW; Hur YJ
Gene; 2012 Apr; 498(1):131-3. PubMed ID: 22326269
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.
Kemp S; Berger J; Aubourg P
Biochim Biophys Acta; 2012 Sep; 1822(9):1465-74. PubMed ID: 22483867
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
