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Items: 1 to 20 of 23

1.

Neurodegeneration in a Drosophila model of adrenoleukodystrophy: the roles of the Bubblegum and Double bubble acyl-CoA synthetases.

Sivachenko A, Gordon HB, Kimball SS, Gavin EJ, Bonkowsky JL, Letsou A.

Dis Model Mech. 2016 Apr;9(4):377-87. doi: 10.1242/dmm.022244.

2.

An innovative electronic health records system for rare and complex diseases.

Faria-Campos AC, Hanke LA, Batista PH, Garcia V, Campos SV.

BMC Bioinformatics. 2015;16 Suppl 19:S4. doi: 10.1186/1471-2105-16-S19-S4.

3.

The role of microglia in human disease: therapeutic tool or target?

Cartier N, Lewis CA, Zhang R, Rossi FM.

Acta Neuropathol. 2014 Sep;128(3):363-80. doi: 10.1007/s00401-014-1330-y. Review.

4.

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.

Engelen M, Kemp S, de Visser M, van Geel BM, Wanders RJ, Aubourg P, Poll-The BT.

Orphanet J Rare Dis. 2012 Aug 13;7:51. doi: 10.1186/1750-1172-7-51.

5.

Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in India.

Kumar N, Taneja KK, Kalra V, Behari M, Aneja S, Bansal SK.

PLoS One. 2011;6(9):e25094. doi: 10.1371/journal.pone.0025094.

6.

Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes.

Matsukawa T, Asheuer M, Takahashi Y, Goto J, Suzuki Y, Shimozawa N, Takano H, Onodera O, Nishizawa M, Aubourg P, Tsuji S.

Neurogenetics. 2011 Feb;12(1):41-50. doi: 10.1007/s10048-010-0253-6.

7.

Retinal very long-chain PUFAs: new insights from studies on ELOVL4 protein.

Agbaga MP, Mandal MN, Anderson RE.

J Lipid Res. 2010 Jul;51(7):1624-42. doi: 10.1194/jlr.R005025. Review.

8.

Therapy of X-linked adrenoleukodystrophy.

Moser HW.

NeuroRx. 2006 Apr;3(2):246-53. Review.

9.

A mouse model for X-linked adrenoleukodystrophy.

Lu JF, Lawler AM, Watkins PA, Powers JM, Moser AB, Moser HW, Smith KD.

Proc Natl Acad Sci U S A. 1997 Aug 19;94(17):9366-71.

10.

X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.

van Geel BM, Assies J, Wanders RJ, Barth PG.

J Neurol Neurosurg Psychiatry. 1997 Jul;63(1):4-14. Review.

11.

Altered expression of ALDP in X-linked adrenoleukodystrophy.

Watkins PA, Gould SJ, Smith MA, Braiterman LT, Wei HM, Kok F, Moser AB, Moser HW, Smith KD.

Am J Hum Genet. 1995 Aug;57(2):292-301.

12.

The testis in adreno-leukodystrophy.

Powers JM, Schaumburg HH.

Am J Pathol. 1981 Jan;102(1):90-8.

13.

Lipids and lipoproteins in Friedreich's ataxia.

Walker JL, Chamberlain S, Robinson N.

J Neurol Neurosurg Psychiatry. 1980 Feb;43(2):111-7.

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Familial spinocerebellar degeneration as an expression of adrenoleukodystrophy.

Kobayashi T, Noda S, Umezaki H, Goto I, Suzuki S, Kitaguchi T, Kuroiwa Y.

J Neurol Neurosurg Psychiatry. 1986 Dec;49(12):1438-40.

19.

Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy.

Lazo O, Contreras M, Hashmi M, Stanley W, Irazu C, Singh I.

Proc Natl Acad Sci U S A. 1988 Oct;85(20):7647-51.

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