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Items: 1 to 20 of 35

1.

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
2.

Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency.

Fons C, Arias A, Sempere A, Póo P, Pineda M, Mas A, López-Sala A, Garcia-Villoria J, Vilaseca MA, Ozaez L, Lluch M, Artuch R, Campistol J, Ribes A.

Mol Genet Metab. 2010 Mar;99(3):296-9. doi: 10.1016/j.ymgme.2009.10.186. Epub 2009 Nov 1.

PMID:
19955008
3.

S-adenosyl-L-methionine restores photoreceptor function following acute retinal ischemia.

Moxon-Lester L, Takamoto K, Colditz PB, Barnett NL.

Vis Neurosci. 2009 Nov;26(5-6):429-41. doi: 10.1017/S0952523809990241. Epub 2009 Nov 18.

PMID:
19919727
4.

Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevance to creatine deficiency syndromes.

Braissant O, Béard E, Torrent C, Henry H.

Neurobiol Dis. 2010 Feb;37(2):423-33. doi: 10.1016/j.nbd.2009.10.022. Epub 2009 Oct 29.

PMID:
19879361
5.

Na(+)/Cl(-)/creatine transporter activity and expression in rat brain synaptosomes.

Peral MJ, Vázquez-Carretero MD, Ilundain AA.

Neuroscience. 2010 Jan 13;165(1):53-60. doi: 10.1016/j.neuroscience.2009.10.001. Epub 2009 Oct 3.

PMID:
19804817
6.

Immunohistochemical localisation of the creatine transporter in the rat brain.

Mak CS, Waldvogel HJ, Dodd JR, Gilbert RT, Lowe MT, Birch NP, Faull RL, Christie DL.

Neuroscience. 2009 Oct 6;163(2):571-85. doi: 10.1016/j.neuroscience.2009.06.065. Epub 2009 Jul 4.

PMID:
19580854
7.

Expression and possible role of creatine transporter in the brain and at the blood-cerebrospinal fluid barrier as a transporting protein of guanidinoacetate, an endogenous convulsant.

Tachikawa M, Fujinawa J, Takahashi M, Kasai Y, Fukaya M, Sakai K, Yamazaki M, Tomi M, Watanabe M, Sakimura K, Terasaki T, Hosoya K.

J Neurochem. 2008 Nov;107(3):768-78. doi: 10.1111/j.1471-4159.2008.05652.x. Epub 2008 Sep 20.

8.

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
9.

Expression and function of AGAT, GAMT and CT1 in the mammalian brain.

Braissant O, Bachmann C, Henry H.

Subcell Biochem. 2007;46:67-81. Review.

PMID:
18652072
10.

Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect.

Chilosi A, Leuzzi V, Battini R, Tosetti M, Ferretti G, Comparini A, Casarano M, Moretti E, Alessandri MG, Bianchi MC, Cioni G.

Neurocase. 2008;14(2):151-61. doi: 10.1080/13554790802060821.

PMID:
18569740
11.

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
12.

AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review.

Braissant O, Henry H.

J Inherit Metab Dis. 2008 Apr;31(2):230-9. doi: 10.1007/s10545-008-0826-9. Epub 2008 Apr 4. Review.

PMID:
18392746
13.

Arginine and glycine stimulate creatine synthesis in creatine transporter 1-deficient lymphoblasts.

Leuzzi V, Alessandrì MG, Casarano M, Battini R, Cioni G.

Anal Biochem. 2008 Apr 1;375(1):153-5. doi: 10.1016/j.ab.2008.01.018. Epub 2008 Jan 18.

PMID:
18258176
14.

Creatine synthesis: production of guanidinoacetate by the rat and human kidney in vivo.

Edison EE, Brosnan ME, Meyer C, Brosnan JT.

Am J Physiol Renal Physiol. 2007 Dec;293(6):F1799-804. Epub 2007 Oct 10.

15.

Studies of age-correlated features of cognitive-behavioral development in children and adolescents with genetic disorders.

Fisch GS, Carpenter N, Howard-Peebles PN, Holden JJ, Tarleton J, Simensen R, Nance W.

Am J Med Genet A. 2007 Oct 15;143A(20):2478-89.

PMID:
17853466
16.

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
17.

The creatine transporter mediates the uptake of creatine by brain tissue, but not the uptake of two creatine-derived compounds.

Lunardi G, Parodi A, Perasso L, Pohvozcheva AV, Scarrone S, Adriano E, Florio T, Gandolfo C, Cupello A, Burov SV, Balestrino M.

Neuroscience. 2006 Nov 3;142(4):991-7. Epub 2006 Sep 1.

PMID:
16949212
18.

Exocytotic release of creatine in rat brain.

Almeida LS, Salomons GS, Hogenboom F, Jakobs C, Schoffelmeer AN.

Synapse. 2006 Aug;60(2):118-23.

PMID:
16715490
19.

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
20.

X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype.

Anselm IA, Alkuraya FS, Salomons GS, Jakobs C, Fulton AB, Mazumdar M, Rivkin M, Frye R, Poussaint TY, Marsden D.

J Inherit Metab Dis. 2006 Feb;29(1):214-9. Erratum in: J Inherit Metab Dis. 2006 Dec;29(6):764. Anselm, IM [corrected to Anselm, IA].

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