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26 in total

1. Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database.

Authors: Ofir T Betsalel; Efraim H Rosenberg; Ligia S Almeida; Tjitske Kleefstra; Charles E Schwartz; Vassili Valayannopoulos; Omar Abdul-Rahman; Nicola Poplawski; Laura Vilarinho; Philipp Wolf; Johan T den Dunnen; Cornelis Jakobs; Gajja S Salomons
Journal: Eur J Hum Genet Date: 2010-08-18 Impact factor: 4.246

2. Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome.

Authors: Vassili Valayannopoulos; Naziha Bakouh; Michel Mazzuca; Luc Nonnenmacher; Laurence Hubert; Fatna-Léa Makaci; Allel Chabli; Gajja S Salomons; Caroline Mellot-Draznieks; Emilie Brulé; Pascale de Lonlay; Hervé Toulhoat; Arnold Munnich; Gabrielle Planelles; Yves de Keyzer
Journal: J Inherit Metab Dis Date: 2012-05-30 Impact factor: 4.982

3. Effects of amide creatine derivatives in brain hippocampal slices, and their possible usefulness for curing creatine transporter deficiency.

Authors: Patrizia Garbati; Enrico Adriano; Annalisa Salis; Silvia Ravera; Gianluca Damonte; Enrico Millo; Maurizio Balestrino
Journal: Neurochem Res Date: 2013-11-12 Impact factor: 3.996

4. Deletion of the creatine transporter gene in neonatal, but not adult, mice leads to cognitive deficits.

Authors: Kenea C Udobi; Nicholas Delcimmuto; Amanda N Kokenge; Zuhair I Abdulla; Marla K Perna; Matthew R Skelton
Journal: J Inherit Metab Dis Date: 2019-07-04 Impact factor: 4.982

Review 5. X-linked creatine transporter deficiency: clinical aspects and pathophysiology.

Authors: Jiddeke M van de Kamp; Grazia M Mancini; Gajja S Salomons
Journal: J Inherit Metab Dis Date: 2014-05-01 Impact factor: 4.982

6. Female mice heterozygous for creatine transporter deficiency show moderate cognitive deficits.

Authors: Emily R Hautman; Amanda N Kokenge; Kenea C Udobi; Michael T Williams; Charles V Vorhees; Matthew R Skelton
Journal: J Inherit Metab Dis Date: 2013-05-29 Impact factor: 4.982

7. Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.

Authors: Ofir T Betsalel; Jiddeke M van de Kamp; Cristina Martínez-Muñoz; Efraim H Rosenberg; Arjan P M de Brouwer; Petra J W Pouwels; Marjo S van der Knaap; Grazia M S Mancini; Cornelis Jakobs; Ben C J Hamel; Gajja S Salomons
Journal: Neurogenetics Date: 2008-03-19 Impact factor: 2.660

8. 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.

Authors: S Dreha-Kulaczewski; V Kalscheuer; A Tzschach; H Hu; G Helms; K Brockmann; A Weddige; P Dechent; G Schlüter; R Krätzner; H-H Ropers; J Gärtner; B Zirn
Journal: JIMD Rep Date: 2013-11-05

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

Authors: Audrey Thurm; Daniel Himelstein; Precilla DʼSouza; Owen Rennert; Susanqi Jiang; Damilola Olatunji; Nicola Longo; Marzia Pasquali; Susan Swedo; Gajja S Salomons; Nuria Carrillo
Journal: J Dev Behav Pediatr Date: 2016-05 Impact factor: 2.225

Review 10. Creatine transporter deficiency in two adult patients with static encephalopathy.

Authors: A Sempere; C Fons; A Arias; P Rodríguez-Pombo; R Colomer; B Merinero; P Alcaide; A Capdevila; A Ribes; R Artuch; J Campistol
Journal: J Inherit Metab Dis Date: 2009-03-25 Impact factor: 4.982