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Items: 1 to 20 of 103

1.

X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation.

Schiaffino MC, Bellini C, Costabello L, Caruso U, Jakobs C, Salomons GS, Bonioli E.

Neurogenetics. 2005 Sep;6(3):165-8. Epub 2005 Sep 28.

PMID:
16086185
2.

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
3.

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
4.

Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8.

Anselm IA, Coulter DL, Darras BT.

Neurology. 2008 Apr 29;70(18):1642-4. doi: 10.1212/01.wnl.0000310987.04106.45. No abstract available.

PMID:
18443316
5.

Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.

Rosenberg EH, Martínez Muñoz C, Betsalel OT, van Dooren SJ, Fernandez M, Jakobs C, deGrauw TJ, Kleefstra T, Schwartz CE, Salomons GS.

Hum Mutat. 2007 Sep;28(9):890-6.

PMID:
17465020
6.

Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case.

Thurm A, Himelstein D, DʼSouza P, Rennert O, Jiang S, Olatunji D, Longo N, Pasquali M, Swedo S, Salomons GS, Carrillo N.

J Dev Behav Pediatr. 2016 May;37(4):322-6. doi: 10.1097/DBP.0000000000000299.

7.

Treatment of intractable epilepsy in a female with SLC6A8 deficiency.

Mercimek-Mahmutoglu S, Connolly MB, Poskitt KJ, Horvath GA, Lowry N, Salomons GS, Casey B, Sinclair G, Davis C, Jakobs C, Stockler-Ipsiroglu S.

Mol Genet Metab. 2010 Dec;101(4):409-12. doi: 10.1016/j.ymgme.2010.08.016. Epub 2010 Aug 26.

PMID:
20846889
8.

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
9.

X-linked creatine transporter deficiency presenting as a mitochondrial disorder.

Hathaway SC, Friez M, Limbo K, Parker C, Salomons GS, Vockley J, Wood T, Abdul-Rahman OA.

J Child Neurol. 2010 Aug;25(8):1009-12. doi: 10.1177/0883073809352109. Epub 2010 May 25.

PMID:
20501887
10.

Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity.

Heussinger N, Saake M, Mennecke A, Dörr HG, Trollmann R.

Pediatr Neurol. 2017 Feb;67:45-52. doi: 10.1016/j.pediatrneurol.2016.10.007. Epub 2016 Oct 17.

PMID:
28065824
11.

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
12.

1H MR spectroscopy as a diagnostic tool for cerebral creatine deficiency.

Dezortova M, Jiru F, Petrasek J, Malinova V, Zeman J, Jirsa M, Hajek M.

MAGMA. 2008 Sep;21(5):327-32. doi: 10.1007/s10334-008-0137-z. Epub 2008 Aug 26.

PMID:
18726626
13.

Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts.

Rosenberg EH, Muñoz CM, Degrauw TJ, Jakobs Cn, Salomons GS.

J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):345-6.

PMID:
16763899
14.

Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1.

van de Kamp JM, Errami A, Howidi M, Anselm I, Winter S, Phalin-Roque J, Osaka H, van Dooren SJ, Mancini GM, Steinberg SJ, Salomons GS.

Clin Genet. 2015 Feb;87(2):141-7. doi: 10.1111/cge.12355. Epub 2014 Mar 6.

PMID:
24597975
15.

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
16.

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
17.

Severe epilepsy in X-linked creatine transporter defect (CRTR-D).

Mancardi MM, Caruso U, Schiaffino MC, Baglietto MG, Rossi A, Battaglia FM, Salomons GS, Jakobs C, Zara F, Veneselli E, Gaggero R.

Epilepsia. 2007 Jun;48(6):1211-3.

18.

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
19.

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database.

Betsalel OT, Rosenberg EH, Almeida LS, Kleefstra T, Schwartz CE, Valayannopoulos V, Abdul-Rahman O, Poplawski N, Vilarinho L, Wolf P, den Dunnen JT, Jakobs C, Salomons GS.

Eur J Hum Genet. 2011 Jan;19(1):56-63. doi: 10.1038/ejhg.2010.134. Epub 2010 Aug 18.

20.

Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.

Betsalel OT, van de Kamp JM, Martínez-Muñoz C, Rosenberg EH, de Brouwer AP, Pouwels PJ, van der Knaap MS, Mancini GM, Jakobs C, Hamel BC, Salomons GS.

Neurogenetics. 2008 Jul;9(3):183-90. doi: 10.1007/s10048-008-0125-5. Epub 2008 Mar 19.

PMID:
18350323

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