Results 81 to 90 of about 1,441 (115)

An international questionnaire highlights and supports the case for including girls in Creatine Transporter Deficiency research. [PDF]

Front Neurosci
Chehowah C, Mittelman A, des Portes V.
europepmc   +1 more source

Focal epilepsy with sensory seizures associated with arginine:glycine amidinotransferase deficiency: A clinical and advanced magnetic resonance imaging study. [PDF]

Epilepsia
Fortunato F, De Fiores R, Sammarra I, Bonacci MC, Caligiuri ME, Sturniolo M, Martino I, Gambardella A.   +7 more
europepmc   +1 more source

It Is Not Just About Storing Energy: The Multifaceted Role of Creatine Metabolism on Cancer Biology and Immunology. [PDF]

Int J Mol Sci
Geng Y, DeLay SL, Chen X, Miska J.
europepmc   +1 more source

Assessing Creatine-Related Gene Expression in Kidney Disease: Can Available Data Give Insights into an Old Discussion? [PDF]

Nutrients
Medeiros MA, Abreu BJ, Lima JPMS.
europepmc   +1 more source

Creatine as a mitochondrial theranostic in predictive, preventive, and personalized medicine. [PDF]

EPMA J
Ostojic SM, Rátgéber L.
europepmc   +1 more source

Gene delivery of AGAT and GAMT boosts creatine levels in creatine transporter deficiency patient fibroblasts. [PDF]

PLoS One
Wells C, Sorgenfrei J, Johnson SL, Albertson D, Rutter J, Baker SA.   +5 more
europepmc   +1 more source

A creatine efflux transporter in oligodendrocytes. [PDF]

FEBS J
Flögel S, Strater M, Fischer D, Gründemann D.   +3 more
europepmc   +1 more source

Childhood motor speech disorders: who to prioritise for genetic testing. [PDF]

Eur J Hum Genet
Van Niel H, Lauretta M, Baker E, O'Donnell L, Boulton C, Brenchley C, Coman D, Michellis E, Goel H, Thompson G, Webster R, Paxton G, Stark Z, Scheffer IE, Hildebrand MS, Amor DJ, Morgan AT.   +16 more
europepmc   +1 more source

Diagnostic delay in cerebral creatine deficiency disorders: lessons learned from a cross-sectional single center study, and guanidinoacetate and creatine measurements in Switzerland between 2015 and 2023. [PDF]

Mol Cell Pediatr
Kaufman C, D'Andrea A, Hackenberg A, Poms M, Braissant O, Häberle J.   +5 more
europepmc   +1 more source

Rescue of myocytes and locomotion through AAV2/9-2YF intracisternal gene therapy in a rat model of creatine transporter deficiency. [PDF]

Mol Ther Methods Clin Dev
Fernandes-Pires G, Azevedo MD, Lanzillo M, Roux-Petronelli C, Binz PA, Cudalbu C, Sandi C, Tenenbaum L, Braissant O.   +8 more
europepmc   +1 more source