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Items: 1 to 20 of 118

1.

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 15;513(1):71-4. doi: 10.1016/j.gene.2012.10.076. Epub 2012 Nov 12.

PMID:
23154058
2.

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 15;263(1-2):149-53. Epub 2007 Jul 26.

PMID:
17662307
3.

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.

Mosser J, Douar AM, Sarde CO, Kioschis P, Feil R, Moser H, Poustka AM, Mandel JL, Aubourg P.

Nature. 1993 Feb 25;361(6414):726-30.

PMID:
8441467
4.

Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.

Corzo D, Gibson W, Johnson K, Mitchell G, LePage G, Cox GF, Casey R, Zeiss C, Tyson H, Cutting GR, Raymond GV, Smith KD, Watkins PA, Moser AB, Moser HW, Steinberg SJ.

Am J Hum Genet. 2002 Jun;70(6):1520-31. Epub 2002 Apr 29.

5.

Dementia from the ABCD1 mutation c.1415-1416delAG in a female carrier.

Finsterer J, Lässer S, Stöphasius E.

Gene. 2013 Nov 1;530(1):155-7. doi: 10.1016/j.gene.2013.07.073. Epub 2013 Aug 18.

PMID:
23962690
6.

Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.

Dvoráková L, Storkánová G, Unterrainer G, Hujová J, Kmoch S, Zeman J, Hrebícek M, Berger J.

Hum Mutat. 2001;18(1):52-60.

PMID:
11438993
7.

Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy.

Chu SS, Ye J, Zhang HW, Han LS, Qiu WJ, Gao XL, Gu XF.

World J Pediatr. 2015 Nov;11(4):366-73. doi: 10.1007/s12519-015-0044-0. Epub 2015 Oct 11.

PMID:
26454440
8.

A case of adult-onset adrenoleukodystrophy with frontal lobe dysfunction: a novel point mutation in the ABCD1 gene.

Inoue S, Terada S, Matsumoto T, Ujike H, Uchitomi Y.

Intern Med. 2012;51(11):1403-6. Epub 2012 Jun 1.

9.

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. Epub 2007 Sep 9.

PMID:
17828604
10.

Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy.

Pujol A, Ferrer I, Camps C, Metzger E, Hindelang C, Callizot N, Ruiz M, Pàmpols T, Giròs M, Mandel JL.

Hum Mol Genet. 2004 Dec 1;13(23):2997-3006. Epub 2004 Oct 15.

PMID:
15489218
11.

Lovastatin therapy for X-linked adrenoleukodystrophy: clinical and biochemical observations on 12 patients.

Pai GS, Khan M, Barbosa E, Key LL, Craver JR, Curé JK, Betros R, Singh I.

Mol Genet Metab. 2000 Apr;69(4):312-22.

PMID:
10870849
12.

Spinocerebellar variant of adrenoleukodystrophy with a novel ABCD1 gene mutation.

Li JY, Hsu CC, Tsai CR.

J Neurol Sci. 2010 Mar 15;290(1-2):163-5. doi: 10.1016/j.jns.2009.12.002. Epub 2009 Dec 29.

PMID:
20042197
13.

ABCD1 translation-initiator mutation demonstrates genotype-phenotype correlation for AMN.

O'Neill GN, Aoki M, Brown RH Jr.

Neurology. 2001 Dec 11;57(11):1956-62.

PMID:
11739809
14.

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 25;498(1):131-3. doi: 10.1016/j.gene.2012.01.063. Epub 2012 Feb 1.

PMID:
22326269
15.

Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy.

Cartier N, Hacein-Bey-Abina S, Bartholomae CC, Veres G, Schmidt M, Kutschera I, Vidaud M, Abel U, Dal-Cortivo L, Caccavelli L, Mahlaoui N, Kiermer V, Mittelstaedt D, Bellesme C, Lahlou N, Lefrère F, Blanche S, Audit M, Payen E, Leboulch P, l'Homme B, Bougnères P, Von Kalle C, Fischer A, Cavazzana-Calvo M, Aubourg P.

Science. 2009 Nov 6;326(5954):818-23. doi: 10.1126/science.1171242.

16.

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. doi: 10.1159/000346680. Epub 2013 May 3.

PMID:
23651979
17.

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. Review.

PMID:
11748843
18.

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.

Salsano E, Tabano S, Sirchia SM, Colapietro P, Castellotti B, Gellera C, Rimoldi M, Pensato V, Mariotti C, Pareyson D, Miozzo M, Uziel G.

Orphanet J Rare Dis. 2012 Jan 26;7:10. doi: 10.1186/1750-1172-7-10.

19.

Novel exon nucleotide deletion causes adrenoleukodystrophy in a Brazilian family.

Valadares ER, Trindade AL, Oliveira LR, Arantes RR, Daker MV, Viana BM, Haase VG, Jardim LB, Lopes GC, Godard AL.

Genet Mol Res. 2011 Jan 18;10(1):65-74. doi: 10.4238/vol10-1gmr975.

20.

Isolated cerebellar variant of adrenoleukodystrophy with a de novo adenosine triphosphate-binding cassette D1 (ABCD1) gene mutation.

Kang JW, Lee SM, Koo KY, Lee YM, Nam HS, Quan Z, Kang HC.

Yonsei Med J. 2014 Jul;55(4):1157-60. doi: 10.3349/ymj.2014.55.4.1157.

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