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Items: 1 to 20 of 29

1.

Silkworm: A Promising Model Organism in Life Science.

Meng X, Zhu F, Chen K.

J Insect Sci. 2017 Sep 1;17(5). doi: 10.1093/jisesa/iex064. Review.

2.

Phenylketonuria: A new look at an old topic, advances in laboratory diagnosis, and therapeutic strategies.

Sumaily KM, Mujamammi AH.

Int J Health Sci (Qassim). 2017 Nov-Dec;11(5):63-70. Review.

3.

The complete European guidelines on phenylketonuria: diagnosis and treatment.

van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ.

Orphanet J Rare Dis. 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2. Review.

4.

Combining Human and Rodent Genetics to Identify New Analgesics.

Latremoliere A, Costigan M.

Neurosci Bull. 2018 Feb;34(1):143-155. doi: 10.1007/s12264-017-0152-z. Epub 2017 Jul 1. Review.

PMID:
28667479
5.

Genetic and pharmacological correction of aberrant dopamine synthesis using patient iPSCs with BH4 metabolism disorders.

Ishikawa T, Imamura K, Kondo T, Koshiba Y, Hara S, Ichinose H, Furujo M, Kinoshita M, Oeda T, Takahashi J, Takahashi R, Inoue H.

Hum Mol Genet. 2016 Dec 1;25(23):5188-5197. doi: 10.1093/hmg/ddw339.

6.

Phenylketonuria: translating research into novel therapies.

Ho G, Christodoulou J.

Transl Pediatr. 2014 Apr;3(2):49-62. doi: 10.3978/j.issn.2224-4336.2014.01.01. Review.

7.

Association study of sepiapterin reductase gene promoter polymorphisms with schizophrenia in a Han Chinese population.

Fu J, Ma G, Mai H, Luo X, Yin J, Chen Q, Lin Z, Tao H, Li Y, Cui L, Li Z, Lin J, Zhao B, Li K.

Neuropsychiatr Dis Treat. 2015 Oct 28;11:2793-9. doi: 10.2147/NDT.S92986. eCollection 2015.

8.

Reduction of Neuropathic and Inflammatory Pain through Inhibition of the Tetrahydrobiopterin Pathway.

Latremoliere A, Latini A, Andrews N, Cronin SJ, Fujita M, Gorska K, Hovius R, Romero C, Chuaiphichai S, Painter M, Miracca G, Babaniyi O, Remor AP, Duong K, Riva P, Barrett LB, Ferreirós N, Naylor A, Penninger JM, Tegeder I, Zhong J, Blagg J, Channon KM, Johnsson K, Costigan M, Woolf CJ.

Neuron. 2015 Jun 17;86(6):1393-406. doi: 10.1016/j.neuron.2015.05.033.

9.

Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency.

Zielonka M, Makhseed N, Blau N, Bettendorf M, Hoffmann GF, Opladen T.

JIMD Rep. 2015;24:109-13. doi: 10.1007/8904_2015_450. Epub 2015 May 26.

10.

Sulfa drugs inhibit sepiapterin reduction and chemical redox cycling by sepiapterin reductase.

Yang S, Jan YH, Mishin V, Richardson JR, Hossain MM, Heindel ND, Heck DE, Laskin DL, Laskin JD.

J Pharmacol Exp Ther. 2015 Mar;352(3):529-40. doi: 10.1124/jpet.114.221572. Epub 2014 Dec 30.

11.

LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway.

Arning E, Bottiglieri T.

JIMD Rep. 2016;29:1-9. Epub 2014 Sep 12. Erratum in: JIMD Rep. 2016;29:115.

12.

Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing.

Sun ZF, Zhang YH, Guo JF, Sun QY, Mei JP, Zhou HL, Guan LP, Tian JY, Hu ZM, Li JD, Xia K, Yan XX, Tang BS.

PLoS One. 2014 Sep 2;9(9):e106388. doi: 10.1371/journal.pone.0106388. eCollection 2014.

13.

Recent advances in the genetics of dystonia.

Xiao J, Vemula SR, LeDoux MS.

Curr Neurol Neurosci Rep. 2014 Aug;14(8):462. doi: 10.1007/s11910-014-0462-8. Review.

14.

Clinical spectrum of dopa-responsive dystonia and related disorders.

Lee WW, Jeon BS.

Curr Neurol Neurosci Rep. 2014 Jul;14(7):461. doi: 10.1007/s11910-014-0461-9. Review.

15.

Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.

Charlesworth G, Mohire MD, Schneider SA, Stamelou M, Wood NW, Bhatia KP.

Neurology. 2013 Sep 24;81(13):1148-51. doi: 10.1212/WNL.0b013e3182a55fa2. Epub 2013 Aug 14.

16.

The genetics of dystonia: new twists in an old tale.

Charlesworth G, Bhatia KP, Wood NW.

Brain. 2013 Jul;136(Pt 7):2017-37. doi: 10.1093/brain/awt138. Epub 2013 Jun 17. Review.

17.

Sepiapterin reductase mediates chemical redox cycling in lung epithelial cells.

Yang S, Jan YH, Gray JP, Mishin V, Heck DE, Laskin DL, Laskin JD.

J Biol Chem. 2013 Jun 28;288(26):19221-37. doi: 10.1074/jbc.M112.402164. Epub 2013 May 2.

18.

The genetics of dystonias.

LeDoux MS.

Adv Genet. 2012;79:35-85. doi: 10.1016/B978-0-12-394395-8.00002-5. Review.

19.

Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples.

Marras C, Lohmann K, Lang A, Klein C.

Neurology. 2012 Mar 27;78(13):1016-24. doi: 10.1212/WNL.0b013e31824d58ab. Review.

20.

Whole-genome sequencing for optimized patient management.

Bainbridge MN, Wiszniewski W, Murdock DR, Friedman J, Gonzaga-Jauregui C, Newsham I, Reid JG, Fink JK, Morgan MB, Gingras MC, Muzny DM, Hoang LD, Yousaf S, Lupski JR, Gibbs RA.

Sci Transl Med. 2011 Jun 15;3(87):87re3. doi: 10.1126/scitranslmed.3002243.

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