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Items: 1 to 20 of 27

1.

Creatine kinase in ischemic and inflammatory disorders.

Kitzenberg D, Colgan SP, Glover LE.

Clin Transl Med. 2016 Dec;5(1):31. doi: 10.1186/s40169-016-0114-5. Epub 2016 Aug 15. Review.

2.

Creatine transporter deficiency: Novel mutations and functional studies.

Ardon O, Procter M, Mao R, Longo N, Landau YE, Shilon-Hadass A, Gabis LV, Hoffmann C, Tzadok M, Heimer G, Sada S, Ben-Zeev B, Anikster Y.

Mol Genet Metab Rep. 2016 Jun 30;8:20-3. doi: 10.1016/j.ymgmr.2016.06.005. eCollection 2016 Sep.

3.

Creatine transporter deficiency leads to increased whole body and cellular metabolism.

Perna MK, Kokenge AN, Miles KN, Udobi KC, Clark JF, Pyne-Geithman GJ, Khuchua Z, Skelton MR.

Amino Acids. 2016 Aug;48(8):2057-65. doi: 10.1007/s00726-016-2291-3. Epub 2016 Jul 11.

PMID:
27401086
4.

Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case.

Thurm A, Himelstein D, DʼSouza P, Rennert O, Jiang S, Olatunji D, Longo N, Pasquali M, Swedo S, Salomons GS, Carrillo N.

J Dev Behav Pediatr. 2016 May;37(4):322-6. doi: 10.1097/DBP.0000000000000299.

PMID:
27096572
5.

A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency.

Cervera-Acedo C, Lopez M, Aguirre-Lamban J, Santibañez P, Garcia-Oguiza A, Poch-Olive ML, Dominguez-Garrido E.

Hum Genome Var. 2015 Oct 29;2:15037. doi: 10.1038/hgv.2015.37. eCollection 2015.

6.

Defining the blanks--pharmacochaperoning of SLC6 transporters and ABC transporters.

Chiba P, Freissmuth M, Stockner T.

Pharmacol Res. 2014 May;83:63-73. doi: 10.1016/j.phrs.2013.11.009. Epub 2013 Dec 6. Review.

7.

A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females.

Dreha-Kulaczewski S, Kalscheuer V, Tzschach A, Hu H, Helms G, Brockmann K, Weddige A, Dechent P, Schlüter G, Krätzner R, Ropers HH, Gärtner J, Zirn B.

JIMD Rep. 2014;13:91-9. doi: 10.1007/8904_2013_261. Epub 2013 Nov 5.

8.

Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation.

Marshall LS, Simon J, Wood T, Peng M, Owen R, Feldman GS, Zaragoza MV.

BMC Med Genet. 2013 May 1;14:49. doi: 10.1186/1471-2350-14-49.

9.

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.

10.

Cyclocreatine treatment improves cognition in mice with creatine transporter deficiency.

Kurosawa Y, Degrauw TJ, Lindquist DM, Blanco VM, Pyne-Geithman GJ, Daikoku T, Chambers JB, Benoit SC, Clark JF.

J Clin Invest. 2012 Aug;122(8):2837-46. doi: 10.1172/JCI59373. Epub 2012 Jul 2.

11.

Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency.

Chilosi A, Casarano M, Comparini A, Battaglia FM, Mancardi MM, Schiaffino C, Tosetti M, Leuzzi V, Battini R, Cioni G.

Orphanet J Rare Dis. 2012 Jun 19;7:43. doi: 10.1186/1750-1172-7-43.

12.

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.

13.

Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.

Hu H, Wrogemann K, Kalscheuer V, Tzschach A, Richard H, Haas SA, Menzel C, Bienek M, Froyen G, Raynaud M, Van Bokhoven H, Chelly J, Ropers H, Chen W.

Hugo J. 2009 Dec;3(1-4):41-9. doi: 10.1007/s11568-010-9137-y. Epub 2010 Mar 25.

14.

Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders?

Schiff M, Benoist JF, Aïssaoui S, Boespflug-Tanguy O, Mouren MC, de Baulny HO, Delorme R.

PLoS One. 2011;6(7):e21932. doi: 10.1371/journal.pone.0021932. Epub 2011 Jul 7. Erratum in: PLoS One. 2011;6(8). doi:10.1371/annotation/456e2365-a067-4063-b11b-6a2abeba3f20. Boepsflug-Tanguy, Odile [corrected to Boespflug-Tanguy, Odile].

15.
16.

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.

Jensen LR, Chen W, Moser B, Lipkowitz B, Schroeder C, Musante L, Tzschach A, Kalscheuer VM, Meloni I, Raynaud M, van Esch H, Chelly J, de Brouwer AP, Hackett A, van der Haar S, Henn W, Gecz J, Riess O, Bonin M, Reinhardt R, Ropers HH, Kuss AW.

Eur J Hum Genet. 2011 Jun;19(6):717-20. doi: 10.1038/ejhg.2010.244. Epub 2011 Jan 26.

17.

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.

18.

Network analysis of differential expression for the identification of disease-causing genes.

Nitsch D, Tranchevent LC, Thienpont B, Thorrez L, Van Esch H, Devriendt K, Moreau Y.

PLoS One. 2009;4(5):e5526. doi: 10.1371/journal.pone.0005526. Epub 2009 May 13.

19.

Autism-lessons from the X chromosome.

Marco EJ, Skuse DH.

Soc Cogn Affect Neurosci. 2006 Dec;1(3):183-93. doi: 10.1093/scan/nsl028. Review.

20.

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.

Lugtenberg D, Kleefstra T, Oudakker AR, Nillesen WM, Yntema HG, Tzschach A, Raynaud M, Rating D, Journel H, Chelly J, Goizet C, Lacombe D, Pedespan JM, Echenne B, Tariverdian G, O'Rourke D, King MD, Green A, van Kogelenberg M, Van Esch H, Gecz J, Hamel BC, van Bokhoven H, de Brouwer AP.

Eur J Hum Genet. 2009 Apr;17(4):444-53. doi: 10.1038/ejhg.2008.208. Epub 2008 Nov 5. Erratum in: Eur J Hum Genet. 2009 May;17(5):697.

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