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Results: 1 to 20 of 117

Similar articles for PubMed (Select 20528887)

1.

Clinical features and X-inactivation in females heterozygous for creatine transporter defect.

van de Kamp JM, Mancini GM, Pouwels PJ, Betsalel OT, van Dooren SJ, de Koning I, Steenweg ME, Jakobs C, van der Knaap MS, Salomons GS.

Clin Genet. 2011 Mar;79(3):264-72. doi: 10.1111/j.1399-0004.2010.01460.x.

PMID:
20528887
2.

Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.

DesRoches CL, Patel J, Wang P, Minassian B, Salomons GS, Marshall CR, Mercimek-Mahmutoglu S.

Gene. 2015 Jul 10;565(2):187-91. doi: 10.1016/j.gene.2015.04.011. Epub 2015 Apr 8.

PMID:
25861866
3.

[A family with creatine transporter deficiency diagnosed with urinary creatine/creatinine ratio and the family history: the third Japanese familial case].

Nozaki F, Kumada T, Shibata M, Fujii T, Wada T, Osaka H.

No To Hattatsu. 2015 Jan;47(1):49-52. Japanese.

PMID:
25803912
4.

Distal Xq28 microdeletions: clarification of the spectrum of contiguous gene deletions involving ABCD1, BCAP31, and SLC6A8 with a new case and review of the literature.

Calhoun AR, Raymond GV.

Am J Med Genet A. 2014 Oct;164A(10):2613-7. doi: 10.1002/ajmg.a.36661. Epub 2014 Jul 9.

PMID:
25044748
5.

RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix.

Nota B, Ndika JD, van de Kamp JM, Kanhai WA, van Dooren SJ, van de Wiel MA, Pals G, Salomons GS.

Hum Mutat. 2014 Sep;35(9):1128-35. doi: 10.1002/humu.22609. Epub 2014 Jul 15.

PMID:
24962355
6.

X-linked creatine transporter deficiency: clinical aspects and pathophysiology.

van de Kamp JM, Mancini GM, Salomons GS.

J Inherit Metab Dis. 2014 Sep;37(5):715-33. doi: 10.1007/s10545-014-9713-8. Epub 2014 May 1. Review.

PMID:
24789340
7.

Effects of amide creatine derivatives in brain hippocampal slices, and their possible usefulness for curing creatine transporter deficiency.

Garbati P, Adriano E, Salis A, Ravera S, Damonte G, Millo E, Balestrino M.

Neurochem Res. 2014 Jan;39(1):37-45. doi: 10.1007/s11064-013-1188-8. Epub 2013 Nov 12.

PMID:
24213972
8.

A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females.

Dreha-Kulaczewski S, Kalscheuer V, Tzschach A, Hu H, Helms G, Brockmann K, Weddige A, Dechent P, Schlüter G, Krätzner R, Ropers HH, Gärtner J, Zirn B.

JIMD Rep. 2014;13:91-9. doi: 10.1007/8904_2013_261. Epub 2013 Nov 5.

9.

Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing.

Yu H, van Karnebeek C, Sinclair G, Hill A, Cui H, Zhang VW, Wong LJ.

Mol Genet Metab. 2013 Dec;110(4):465-71. doi: 10.1016/j.ymgme.2013.09.018. Epub 2013 Oct 4.

PMID:
24140398
10.

The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.

Puusepp H, Kall K, Salomons GS, Talvik I, Männamaa M, Rein R, Jakobs C, Õunap K.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S5-11.

PMID:
24137762
11.

Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8.

Kato H, Miyake F, Shimbo H, Ohya M, Sugawara H, Aida N, Anzai R, Takagi M, Okuda M, Takano K, Wada T, Iai M, Yamashita S, Osaka H.

Brain Dev. 2014 Aug;36(7):630-3. doi: 10.1016/j.braindev.2013.08.004. Epub 2013 Sep 14.

PMID:
24045174
12.

Female mice heterozygous for creatine transporter deficiency show moderate cognitive deficits.

Hautman ER, Kokenge AN, Udobi KC, Williams MT, Vorhees CV, Skelton MR.

J Inherit Metab Dis. 2014 Jan;37(1):63-8. doi: 10.1007/s10545-013-9619-x. Epub 2013 May 29.

PMID:
23716276
13.

Synthesis and biological evaluation of new creatine fatty esters revealed dodecyl creatine ester as a promising drug candidate for the treatment of the creatine transporter deficiency.

Trotier-Faurion A, Dézard S, Taran F, Valayannopoulos V, de Lonlay P, Mabondzo A.

J Med Chem. 2013 Jun 27;56(12):5173-81. doi: 10.1021/jm400545n. Epub 2013 Jun 7.

PMID:
23697594
14.

Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.

Comeaux MS, Wang J, Wang G, Kleppe S, Zhang VW, Schmitt ES, Craigen WJ, Renaud D, Sun Q, Wong LJ.

Mol Genet Metab. 2013 Jul;109(3):260-8. doi: 10.1016/j.ymgme.2013.04.006. Epub 2013 Apr 17.

PMID:
23660394
15.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM, Salomons GS.

J Med Genet. 2013 Jul;50(7):463-72. doi: 10.1136/jmedgenet-2013-101658. Epub 2013 May 3.

PMID:
23644449
16.

The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter.

Abplanalp J, Laczko E, Philp NJ, Neidhardt J, Zuercher J, Braun P, Schorderet DF, Munier FL, Verrey F, Berger W, Camargo SM, Kloeckener-Gruissem B.

Hum Mol Genet. 2013 Aug 15;22(16):3218-26. doi: 10.1093/hmg/ddt175. Epub 2013 Apr 10.

17.

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.

Cheillan D, Joncquel-Chevalier Curt M, Briand G, Salomons GS, Mention-Mulliez K, Dobbelaere D, Cuisset JM, Lion-François L, Portes VD, Chabli A, Valayannopoulos V, Benoist JF, Pinard JM, Simard G, Douay O, Deiva K, Afenjar A, Héron D, Rivier F, Chabrol B, Prieur F, Cartault F, Pitelet G, Goldenberg A, Bekri S, Gerard M, Delorme R, Tardieu M, Porchet N, Vianey-Saban C, Vamecq J.

Orphanet J Rare Dis. 2012 Dec 13;7:96. doi: 10.1186/1750-1172-7-96.

18.

Cyclocreatine treatment improves cognition in mice with creatine transporter deficiency.

Kurosawa Y, Degrauw TJ, Lindquist DM, Blanco VM, Pyne-Geithman GJ, Daikoku T, Chambers JB, Benoit SC, Clark JF.

J Clin Invest. 2012 Aug;122(8):2837-46. doi: 10.1172/JCI59373. Epub 2012 Jul 2.

19.

Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome.

Valayannopoulos V, Bakouh N, Mazzuca M, Nonnenmacher L, Hubert L, Makaci FL, Chabli A, Salomons GS, Mellot-Draznieks C, Brulé E, de Lonlay P, Toulhoat H, Munnich A, Planelles G, de Keyzer Y.

J Inherit Metab Dis. 2013 Jan;36(1):103-12. doi: 10.1007/s10545-012-9495-9. Epub 2012 May 30.

PMID:
22644605
20.

Is low serum creatine kinase a nonspecific screening marker for creatine deficiency syndromes?

Mercimek-Mahmutoglu S, Al-Thihli K, Roland E.

Mol Genet Metab. 2012 Jun;106(2):251-2. doi: 10.1016/j.ymgme.2012.04.007. Epub 2012 Apr 13. No abstract available.

PMID:
22551696
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