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Results: 1 to 20 of 88

1.

CMT4D (NDRG1 mutation): genotype-phenotype correlations.

Ricard E, Mathis S, Magdelaine C, Delisle MB, Magy L, Funalot B, Vallat JM.

J Peripher Nerv Syst. 2013 Sep;18(3):261-5. doi: 10.1111/jns5.12039.

PMID:
24028195
[PubMed - indexed for MEDLINE]
2.

Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia.

Gabrikova D, Mistrik M, Bernasovska J, Bozikova A, Behulova R, Tothova I, Macekova S.

J Appl Genet. 2013 Nov;54(4):455-60. doi: 10.1007/s13353-013-0168-7. Epub 2013 Aug 31.

PMID:
23996628
[PubMed - indexed for MEDLINE]
3.

NDRG1 functions in LDL receptor trafficking by regulating endosomal recycling and degradation.

Pietiäinen V, Vassilev B, Blom T, Wang W, Nelson J, Bittman R, Bäck N, Zelcer N, Ikonen E.

J Cell Sci. 2013 Sep 1;126(Pt 17):3961-71. doi: 10.1242/jcs.128132. Epub 2013 Jun 26.

PMID:
23813961
[PubMed - indexed for MEDLINE]
Free Article
4.

Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.

Braverman NE, D'Agostino MD, Maclean GE.

Dev Disabil Res Rev. 2013 Jun;17(3):187-96. doi: 10.1002/ddrr.1113. Review.

PMID:
23798008
[PubMed - indexed for MEDLINE]
5.

Preventing Alzheimer's disease-related gray matter atrophy by B-vitamin treatment.

Douaud G, Refsum H, de Jager CA, Jacoby R, Nichols TE, Smith SM, Smith AD.

Proc Natl Acad Sci U S A. 2013 Jun 4;110(23):9523-8. doi: 10.1073/pnas.1301816110. Epub 2013 May 20.

PMID:
23690582
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Child neurology: Zellweger syndrome.

Lee PR, Raymond GV.

Neurology. 2013 May 14;80(20):e207-10. doi: 10.1212/WNL.0b013e3182929f8e. Review.

PMID:
23671347
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Peroxisomal disorders.

Aubourg P, Wanders R.

Handb Clin Neurol. 2013;113:1593-609. doi: 10.1016/B978-0-444-59565-2.00028-9. Review.

PMID:
23622381
[PubMed - indexed for MEDLINE]
9.

Metabolic neuropathies and myopathies.

D'Amico A, Bertini E.

Handb Clin Neurol. 2013;113:1437-55. doi: 10.1016/B978-0-444-59565-2.00013-7. Review.

PMID:
23622366
[PubMed - indexed for MEDLINE]
10.

Effects of folic acid supplementation on overall and site-specific cancer incidence during the randomised trials: meta-analyses of data on 50,000 individuals.

Vollset SE, Clarke R, Lewington S, Ebbing M, Halsey J, Lonn E, Armitage J, Manson JE, Hankey GJ, Spence JD, Galan P, Bønaa KH, Jamison R, Gaziano JM, Guarino P, Baron JA, Logan RF, Giovannucci EL, den Heijer M, Ueland PM, Bennett D, Collins R, Peto R; B-Vitamin Treatment Trialists' Collaboration.

Lancet. 2013 Mar 23;381(9871):1029-36.

PMID:
23352552
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Newly identified milder phenotype of peroxisome biogenesis disorder caused by mutated PEX3 gene.

Matsui S, Funahashi M, Honda A, Shimozawa N.

Brain Dev. 2013 Oct;35(9):842-8. doi: 10.1016/j.braindev.2012.10.017. Epub 2012 Dec 14.

PMID:
23245813
[PubMed - indexed for MEDLINE]
12.

Cognitive function in an elderly population: interaction between vitamin B12 status, depression, and apolipoprotein E ε4: the Hordaland Homocysteine Study.

Vogiatzoglou A, Smith AD, Nurk E, Drevon CA, Ueland PM, Vollset SE, Nygaard HA, Engedal K, Tell GS, Refsum H.

Psychosom Med. 2013 Jan;75(1):20-9. doi: 10.1097/PSY.0b013e3182761b6c. Epub 2012 Dec 4.

PMID:
23213264
[PubMed - indexed for MEDLINE]
13.

Mapping creatinine- and cystatin C-related white matter brain deficits in the elderly.

Rajagopalan P, Refsum H, Hua X, Toga AW, Jack CR Jr, Weiner MW, Thompson PM; Alzheimer's Disease Neuroimaging Initiative.

Neurobiol Aging. 2013 Apr;34(4):1221-30. doi: 10.1016/j.neurobiolaging.2012.10.022. Epub 2012 Nov 20.

PMID:
23182131
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Marked inhibition of Na+, K(+)- ATPase activity and the respiratory chain by phytanic acid in cerebellum from young rats: possible underlying mechanisms of cerebellar ataxia in Refsum disease.

Busanello EN, Zanatta Â, Tonin AM, Viegas CM, Vargas CR, Leipnitz G, Ribeiro CA, Wajner M.

J Bioenerg Biomembr. 2013 Feb;45(1-2):137-44. doi: 10.1007/s10863-012-9491-7. Epub 2012 Nov 15.

PMID:
23151916
[PubMed - indexed for MEDLINE]
15.

Midlife vascular risk factors and their association with dementia deaths: results from a Norwegian prospective study followed up for 35 years.

Strand BH, Langballe EM, Hjellvik V, Handal M, Næss O, Knudsen GP, Refsum H, Tambs K, Nafstad P, Schirmer H, Bergem AL, Selmer R, Engedal K, Magnus P, Bjertness E; GENIDEM-Group.

J Neurol Sci. 2013 Jan 15;324(1-2):124-30. doi: 10.1016/j.jns.2012.10.018. Epub 2012 Nov 10.

PMID:
23146611
[PubMed - indexed for MEDLINE]
16.

Medical-dental findings and management of a child with infantile Refsum disease: a case report.

Acharya BS, Ritwik P, Velasquez GM, Fenton SJ.

Spec Care Dentist. 2012 Jun;32(3):112-7. doi: 10.1111/j.1754-4505.2012.00248.x. Epub 2012 Apr 26.

PMID:
22591434
[PubMed - indexed for MEDLINE]
17.

Recognition and diagnosis of neuro-ichthyotic syndromes.

Rizzo WB, Jenkens SM, Boucher P.

Semin Neurol. 2012 Feb;32(1):75-84. doi: 10.1055/s-0032-1306390. Epub 2012 Mar 15. Review.

PMID:
22422210
[PubMed - indexed for MEDLINE]
18.

Association between peroxisomal biogenesis factor 7 and autism spectrum disorders in a Korean population.

Ro M, Park J, Nam M, Bang HJ, Yang J, Choi KS, Kim SK, Chung JH, Kwack K.

J Child Neurol. 2012 Oct;27(10):1270-5. Epub 2012 Feb 28.

PMID:
22378669
[PubMed - indexed for MEDLINE]
19.

Long-term strategies for the treatment of Refsum's disease using therapeutic apheresis.

Zolotov D, Wagner S, Kalb K, Bunia J, Heibges A, Klingel R.

J Clin Apher. 2012;27(2):99-105. doi: 10.1002/jca.21200. Epub 2012 Jan 20.

PMID:
22267052
[PubMed - indexed for MEDLINE]
20.

A child with night blindness: preventing serious symptoms of Refsum disease.

Kohlschütter A, Santer R, Lukacs Z, Altenburg C, Kemper MJ, Rüther K.

J Child Neurol. 2012 May;27(5):654-6. doi: 10.1177/0883073811424799. Epub 2011 Dec 7.

PMID:
22156782
[PubMed - indexed for MEDLINE]

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