Citations for
1SLC6A8, CRTRD
Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation.
Battini R, Chilosi A, Mei D, Casarano M, Alessandri MG, Leuzzi V, Ferretti G, Tosetti M, Bianchi MC, Cioni G.
Am J Med Genet A 143(15):1771-4. 2007
2SLC6A8, CRTRD
Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.
Rosenberg EH, Martinez Munoz C, Betsalel OT, van Dooren SJ, Fernandez M, Jakobs C, deGrauw TJ, Kleefstra T, Schwartz CE, Salomons GS.
Hum Mutat 28(9):890-6. 2007
3CRTRD, SLC6A8
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 48(6):1211-3. 2007
4SLC6A8, CRTRD
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 119(6):604-10. Epub 2006 Apr 26. 2006
5SLC6A8, CRTRD
X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism.
PŚo-Argčelles P, Arias A, Vilaseca MA, Ribes A, Artuch R, Sans-Fito A, Moreno A, Jakobs C, Salomons G.
J Inherit Metab Dis 29(1):220-3. 2006
6SLC6A8, CRTRD
Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation.
Kleefstra T, Rosenberg EH, Salomons GS, Stroink H, van Bokhoven H, Hamel BC, de Vries BB.
Clin Genet 68(4):379-81. No abstract available. 2005
7SLC6A8, CRTRD
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 75(1):97-105. Epub 2004 May 20. 2004
8CRTRD, SLC6A8
X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.
Hahn KA, Salomons GS, Tackels-Horne D, Wood TC, Taylor HA, Schroer RJ, Lubs HA, Jakobs C, Olson RL, Holden KR, Stevenson RE, Schwartz CE.
Am J Hum Genet 70(5):1349-56. 2002
9SLC6A8, CRTRD
X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.
Bizzi A, Bugiani M, Salomons GS, Hunneman DH, Moroni I, Estienne M, Danesi U, Jakobs C, Uziel G.
Ann Neurol 52(2):227-31. 2002
10CRTRD, SLC6A8
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.
Salomons GS, van Dooren SJ, Verhoeven NM, Cecil KM, Ball WS, Degrauw TJ, Jakobs C.
Am J Hum Genet 68(6):1497-500. 2001