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Items: 14

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.

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.

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.

7.

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.

8.

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.

9.

Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.

Griswold AJ, Ma D, Cukier HN, Nations LD, Schmidt MA, Chung RH, Jaworski JM, Salyakina D, Konidari I, Whitehead PL, Wright HH, Abramson RK, Williams SM, Menon R, Martin ER, Haines JL, Gilbert JR, Cuccaro ML, Pericak-Vance MA.

Hum Mol Genet. 2012 Aug 1;21(15):3513-23. doi: 10.1093/hmg/dds164. Epub 2012 Apr 27.

10.

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.

11.

Creatine transporter (CrT; Slc6a8) knockout mice as a model of human CrT deficiency.

Skelton MR, Schaefer TL, Graham DL, Degrauw TJ, Clark JF, Williams MT, Vorhees CV.

PLoS One. 2011 Jan 13;6(1):e16187. doi: 10.1371/journal.pone.0016187.

12.

The genetic basis of non-syndromic intellectual disability: a review.

Kaufman L, Ayub M, Vincent JB.

J Neurodev Disord. 2010 Dec;2(4):182-209. Epub 2010 Jul 29.

13.

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.

14.

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.

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