BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

144 related articles for article (PubMed ID: 32681499)

  • 41. Di-acetyl creatine ethyl ester, a new creatine derivative for the possible treatment of creatine transporter deficiency.
    Adriano E; Gulino M; Arkel M; Salis A; Damonte G; Liessi N; Millo E; Garbati P; Balestrino M
    Neurosci Lett; 2018 Feb; 665():217-223. PubMed ID: 29229397
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Creatine Transporter Deficiency in Two Brothers with Autism Spectrum Disorder.
    Aydin HI
    Indian Pediatr; 2018 Jan; 55(1):67-68. PubMed ID: 29396939
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Genetic mimics of cerebral palsy.
    Pearson TS; Pons R; Ghaoui R; Sue CM
    Mov Disord; 2019 May; 34(5):625-636. PubMed ID: 30913345
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.
    Sharer JD; Bodamer O; Longo N; Tortorelli S; Wamelink MM; Young S
    Genet Med; 2017 Feb; 19(2):256-263. PubMed ID: 28055022
    [TBL] [Abstract][Full Text] [Related]  

  • 45. 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]  

  • 46. 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. PubMed ID: 27096572
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.
    Farmer CA; Kaat AJ; Thurm A; Anselm I; Akshoomoff N; Bennett A; Berry L; Bruchey A; Barshop BA; Berry-Kravis E; Bianconi S; Cecil KM; Davis RJ; Ficicioglu C; Porter FD; Wainer A; Goin-Kochel RP; Leonczyk C; Guthrie W; Koeberl D; Love-Nichols J; Mamak E; Mercimek-Andrews S; Thomas RP; Spiridigliozzi GA; Sullivan N; Sutton VR; Udhnani MD; Waisbren SE; Miller JS
    Am J Intellect Dev Disabil; 2020 Nov; 125(6):475-480. PubMed ID: 33211814
    [TBL] [Abstract][Full Text] [Related]  

  • 48. 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]  

  • 49. Creatine transporter deficiency in two half-brothers.
    Ardon O; Amat di San Filippo C; Salomons GS; Longo N
    Am J Med Genet A; 2010 Aug; 152A(8):1979-83. PubMed ID: 20602486
    [TBL] [Abstract][Full Text] [Related]  

  • 50. 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]  

  • 51. A mouse model for creatine transporter deficiency reveals early onset cognitive impairment and neuropathology associated with brain aging.
    Baroncelli L; Molinaro A; Cacciante F; Alessandrì MG; Napoli D; Putignano E; Tola J; Leuzzi V; Cioni G; Pizzorusso T
    Hum Mol Genet; 2016 Oct; 25(19):4186-4200. PubMed ID: 27466184
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Is there a role for routinely screening children with autism spectrum disorder for creatine deficiency syndrome?
    Wang L; Angley MT; Sorich MJ; Young RL; McKinnon RA; Gerber JP
    Autism Res; 2010 Oct; 3(5):268-72. PubMed ID: 20589913
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Rescue by 4-phenylbutyrate of several misfolded creatine transporter-1 variants linked to the creatine transporter deficiency syndrome.
    El-Kasaby A; Kasture A; Koban F; Hotka M; Asjad HMM; Kubista H; Freissmuth M; Sucic S
    Neuropharmacology; 2019 Dec; 161():107572. PubMed ID: 30885608
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Creatine transport and pathological changes in creatine transporter deficient mice.
    Wawro AM; Gajera CR; Baker SA; Nirschl JJ; Vogel H; Montine TJ
    J Inherit Metab Dis; 2021 Jul; 44(4):939-948. PubMed ID: 33389772
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Dodecyl creatine ester-loaded nanoemulsion as a promising therapy for creatine transporter deficiency.
    Ullio-Gamboa G; Udobi KC; Dezard S; Perna MK; Miles KN; Costa N; Taran F; Pruvost A; Benoit JP; Skelton MR; Lonlay P; Mabondzo A
    Nanomedicine (Lond); 2019 Jun; 14(12):1579-1593. PubMed ID: 31038003
    [TBL] [Abstract][Full Text] [Related]  

  • 56. A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene.
    Alcaide P; Rodriguez-Pombo P; Ruiz-Sala P; Ferrer I; Castro P; Ruiz Martin Y; Merinero B; Ugarte M
    Dev Med Child Neurol; 2010 Feb; 52(2):215-7. PubMed ID: 20002129
    [No Abstract]   [Full Text] [Related]  

  • 57. Deletion of the Creatine Transporter (Slc6a8) in Dopaminergic Neurons Leads to Hyperactivity in Mice.
    Abdulla ZI; Pahlevani B; Lundgren KH; Pennington JL; Udobi KC; Seroogy KB; Skelton MR
    J Mol Neurosci; 2020 Jan; 70(1):102-111. PubMed ID: 31520365
    [TBL] [Abstract][Full Text] [Related]  

  • 58. X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease.
    Mejdahl Nielsen M; Petersen ET; Fenger CD; Ørngreen MC; Siebner HR; Boer VO; Považan M; Lund A; Grønborg SW; Hammer TB
    Mol Genet Metab; 2023 Nov; 140(3):107694. PubMed ID: 37708665
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Female mice heterozygous for creatine transporter deficiency show moderate cognitive deficits.
    Hautman ER; Kokenge AN; Udobi KC; Williams MT; Vorhees CV; Skelton MR
    J Inherit Metab Dis; 2014 Jan; 37(1):63-8. PubMed ID: 23716276
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Creatine Defects and Central Nervous System.
    Fons C; Campistol J
    Semin Pediatr Neurol; 2016 Nov; 23(4):285-289. PubMed ID: 28284390
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.