288 related articles for article (PubMed ID: 25861866)
1. 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]
2. A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report.
Wang Q; Yang J; Liu Y; Li X; Luo F; Xie J
BMC Med Genet; 2018 Nov; 19(1):193. PubMed ID: 30400883
[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. 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]
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. PubMed ID: 17465020
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. [A family with creatine transporter deficiency diagnosed with urinary creatine/creatinine ratio and the family history: the third Japanese familial case].
Nozaki F; Kumada T; Shibata M; Fujii T; Wada T; Osaka H
No To Hattatsu; 2015 Jan; 47(1):49-52. PubMed ID: 25803912
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 20717164
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.
Goldstein J; Thomas-Wilson A; Groopman E; Aggarwal V; Bianconi S; Fernandez R; Hart K; Longo N; Liang N; Reich D; Wallis H; Weaver M; Young S; Mercimek-Andrews S
Mol Genet Metab; 2024 May; 142(1):108362. PubMed ID: 38452609
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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. PubMed ID: 24045174
[TBL] [Abstract][Full Text] [Related]
15. Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8.
Ferrada E; Wiedmer T; Wang WA; Frommelt F; Steurer B; Klimek C; Lindinger S; Osthushenrich T; Garofoli A; Brocchetti S; Bradberry S; Huang J; MacNamara A; Scarabottolo L; Ecker GF; Malarstig A; Superti-Furga G
J Mol Biol; 2024 Jan; 436(2):168383. PubMed ID: 38070861
[TBL] [Abstract][Full Text] [Related]
16. Classification of the Molecular Defects Associated with Pathogenic Variants of the
Salazar MD; Zelt NB; Saldivar R; Kuntz CP; Chen S; Penn WD; Bonneau R; Koehler Leman J; Schlebach JP
Biochemistry; 2020 Apr; 59(13):1367-1377. PubMed ID: 32207963
[TBL] [Abstract][Full Text] [Related]
17. Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review.
Rostami P; Hosseinpour S; Ashrafi MR; Alizadeh H; Garshasbi M; Tavasoli AR
Acta Neurol Belg; 2020 Jun; 120(3):511-516. PubMed ID: 31222513
[TBL] [Abstract][Full Text] [Related]
18. A new rat model of creatine transporter deficiency reveals behavioral disorder and altered brain metabolism.
Duran-Trio L; Fernandes-Pires G; Simicic D; Grosse J; Roux-Petronelli C; Bruce SJ; Binz PA; Sandi C; Cudalbu C; Braissant O
Sci Rep; 2021 Jan; 11(1):1636. PubMed ID: 33452333
[TBL] [Abstract][Full Text] [Related]
19. Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder.
Yıldız Y; Göçmen R; Yaramış A; Coşkun T; Haliloğlu G
Pediatrics; 2020 Nov; 146(5):. PubMed ID: 33093139
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
