Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 135

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.

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
3.

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
4.

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
5.

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.

6.

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
7.

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
8.

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
9.

Creatine transporter deficiency in two half-brothers.

Ardon O, Amat di San Filippo C, Salomons GS, Longo N.

Am J Med Genet A. 2010 Aug;152A(8):1979-83. doi: 10.1002/ajmg.a.33551.

PMID:
20602486
10.

X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism.

Póo-Argüelles P, Arias A, Vilaseca MA, Ribes A, Artuch R, Sans-Fito A, Moreno A, Jakobs C, Salomons G.

J Inherit Metab Dis. 2006 Feb;29(1):220-3.

PMID:
16601898
11.

High prevalence of SLC6A8 deficiency in X-linked mental retardation.

Rosenberg EH, Almeida LS, Kleefstra T, deGrauw RS, Yntema HG, Bahi N, Moraine C, Ropers HH, Fryns JP, deGrauw TJ, Jakobs C, Salomons GS.

Am J Hum Genet. 2004 Jul;75(1):97-105. Epub 2004 May 20.

12.

A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene.

Alcaide P, Rodriguez-Pombo P, Ruiz-Sala P, Ferrer I, Castro P, Ruiz Martin Y, Merinero B, Ugarte M.

Dev Med Child Neurol. 2010 Feb;52(2):215-7. doi: 10.1111/j.1469-8749.2009.03480.x. Epub 2009 Nov 30. No abstract available.

13.

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
14.

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
15.

Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.

Stockler S, Schutz PW, Salomons GS.

Subcell Biochem. 2007;46:149-66. Review.

PMID:
18652076
16.

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
17.

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.

18.

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
19.

Congenital creatine transporter deficiency.

deGrauw TJ, Salomons GS, Cecil KM, Chuck G, Newmeyer A, Schapiro MB, Jakobs C.

Neuropediatrics. 2002 Oct;33(5):232-8.

PMID:
12536364
20.

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
Items per page

Supplemental Content

Write to the Help Desk