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Results: 1 to 20 of 98

1.

Detection of variants in SLC6A8 and functional analysis of unclassified missense variants.

Betsalel OT, Pop A, Rosenberg EH, Fernandez-Ojeda M; Creatine Transporter Research, Group, Jakobs C, Salomons GS.

Mol Genet Metab. 2012 Apr;105(4):596-601. doi: 10.1016/j.ymgme.2011.12.022. Epub 2012 Jan 6.

PMID:
22281021
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
20717164
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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.

PMID:
15154114
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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
[PubMed - indexed for MEDLINE]
6.

X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.

Clark AJ, Rosenberg EH, Almeida LS, Wood TC, Jakobs C, Stevenson RE, Schwartz CE, Salomons GS.

Hum Genet. 2006 Jul;119(6):604-10. Epub 2006 Apr 26.

PMID:
16738945
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.

Mancini GM, Catsman-Berrevoets CE, de Coo IF, Aarsen FK, Kamphoven JH, Huijmans JG, Duran M, van der Knaap MS, Jakobs C, Salomons GS.

Am J Med Genet A. 2005 Jan 30;132A(3):288-95.

PMID:
15690373
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

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.

PMID:
17553121
[PubMed - indexed for MEDLINE]
17.

Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability.

Mencarelli MA, Tassini M, Pollazzon M, Vivi A, Calderisi M, Falco M, Fichera M, Monti L, Buoni S, Mari F, Engelke U, Wevers RA, Hayek J, Renieri A.

Am J Med Genet A. 2011 Oct;155A(10):2446-52. doi: 10.1002/ajmg.a.34208. Epub 2011 Sep 9.

PMID:
21910234
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

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
[PubMed - indexed for MEDLINE]
19.

Cloning and characterization of the promoter regions from the parent and paralogous creatine transporter genes.

Ndika JD, Lusink V, Beaubrun C, Kanhai W, Martinez-Munoz C, Jakobs C, Salomons GS.

Gene. 2014 Jan 10;533(2):488-93. doi: 10.1016/j.gene.2013.10.008. Epub 2013 Oct 18.

PMID:
24144841
[PubMed - indexed for MEDLINE]
20.

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.

PMID:
23234264
[PubMed - indexed for MEDLINE]
Free PMC Article
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