164 related articles for article (PubMed ID: 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. PubMed ID: 20528887
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 17465020
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 23644449
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 17553121
[TBL] [Abstract][Full Text] [Related]
5. Detection of variants in SLC6A8 and functional analysis of unclassified missense variants.
Betsalel OT; Pop A; Rosenberg EH; Fernandez-Ojeda M; ; Jakobs C; Salomons GS
Mol Genet Metab; 2012 Apr; 105(4):596-601. PubMed ID: 22281021
[TBL] [Abstract][Full Text] [Related]
6. 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; 565(2):187-91. PubMed ID: 25861866
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 24137762
[TBL] [Abstract][Full Text] [Related]
8. Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts.
Joncquel-Chevalier Curt M; Bout MA; Fontaine M; Kim I; Huet G; Bekri S; Morin G; Moortgat S; Moerman A; Cuisset JM; Cheillan D; Vamecq J
Mol Genet Metab; 2018 Apr; 123(4):463-471. PubMed ID: 29478817
[TBL] [Abstract][Full Text] [Related]
9. Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8.
Anselm IA; Coulter DL; Darras BT
Neurology; 2008 Apr; 70(18):1642-4. PubMed ID: 18443316
[No Abstract] [Full Text] [Related]
10. 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. PubMed ID: 24140398
[TBL] [Abstract][Full Text] [Related]
11. SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations.
Sanders K; Peck D; Bentz Pino G; Studinski Jones A; White A; Gavrilov D; Matern D; Oglesbee D; Schultz M; Tortorelli S; Hall PL
Mol Genet Metab; 2024 May; 142(1):108455. PubMed ID: 38531184
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 24962355
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 20501887
[TBL] [Abstract][Full Text] [Related]
14. Defining the pathogenicity of creatine deficiency syndrome.
Alcaide P; Merinero B; Ruiz-Sala P; Richard E; Navarrete R; Arias A; Ribes A; Artuch R; Campistol J; Ugarte M; Rodríguez-Pombo P
Hum Mutat; 2011 Mar; 32(3):282-91. PubMed ID: 21140503
[TBL] [Abstract][Full Text] [Related]
15. 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; 132A(3):288-95. PubMed ID: 15690373
[TBL] [Abstract][Full Text] [Related]
16. Disease manifestations and X inactivation in heterozygous females with Fabry disease.
Maier EM; Osterrieder S; Whybra C; Ries M; Gal A; Beck M; Roscher AA; Muntau AC
Acta Paediatr Suppl; 2006 Apr; 95(451):30-8. PubMed ID: 16720462
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 28065824
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 21910234
[TBL] [Abstract][Full Text] [Related]
19. Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females.
Renault NK; Dyack S; Dobson MJ; Costa T; Lam WL; Greer WL
Eur J Hum Genet; 2007 Jun; 15(6):628-37. PubMed ID: 17342157
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 20846889
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
