Results 101 to 110 of about 13,220 (172)

The Role of Preclinical Models in Creatine Transporter Deficiency: Neurobiological Mechanisms, Biomarkers and Therapeutic Development. [PDF]

Genes (Basel), 2021
Ghirardini E, Calugi F, Sagona G, Di Vetta F, Palma M, Battini R, Cioni G, Pizzorusso T, Baroncelli L.   +8 more
europepmc   +1 more source

X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model. [PDF]

Genet Med, 2021
Levin MD, Bianconi S, Smith A, Cawley NX, Do AD, Hammond D, Grafstein JF, Thurm A, Miller J, Perreault J, Noguchi A, Springer D, Kozel BA, Spurney CF, Wassif CA, Yu ZX, Schulze A, Porter FD, Hannah-Shmouni F.   +18 more
europepmc   +1 more source

Optimizing Gene Therapies for Creatine Transporter Deficiency: Correcting by Connecting. [PDF]

Epilepsy Curr
Lillis KP.
europepmc   +1 more source

Creatine transporter deficiency, an underdiagnosed cause of male intellectual disability. [PDF]

BMJ Case Rep, 2020
Jangid N, Surana P, Salmonos G, Jain V.
europepmc   +1 more source

Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study. [PDF]

Pediatr Neurol
Miller JS, Farmer C, Blair S, Bianconi S, Akshoomoff N, Anselm I, Barshop BA, Becker L, Bennett AE, Berry LN, Berry-Kravis EM, Bruchey A, Byars AW, Cimms T, Cecil KM, Covello M, Cubit LS, Das T, Davis RJ, Drye M, Ficicioglu C, Fulton JB, Goin-Kochel RP, Guthrie W, Hallinan BE, Hannah-Shmouni F, Gustafson KE, Koeberl DD, Longo N, Mamak E, Mercimek-Andrews S, Michalak C, Porter FD, Rahhal S, Rees L, Spiridigliozzi GA, Stone C, Sullivan NR, Sutton VR, Thomas RP, Udhnani M, Waisbren S, Xu M, Zhang L, Brandabur M, Thurm A.   +45 more
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

Cyclocreatine treatment ameliorates the cognitive, autistic and epileptic phenotype in a mouse model of Creatine Transporter Deficiency. [PDF]

Sci Rep, 2020
Cacciante F, Gennaro M, Sagona G, Mazziotti R, Lupori L, Cerri E, Putignano E, Butt M, Do MT, McKew JC, Alessandrì MG, Battini R, Cioni G, Pizzorusso T, Baroncelli L.   +14 more
europepmc   +1 more source

Novel Corrector for Variants of SLC6A8: A Therapeutic Opportunity for Creatine Transporter Deficiency. [PDF]

ACS Chem Biol
Gechijian LN, Muncipinto G, Rettenmaier TJ, Labenski MT, Rusu V, Rosskamp L, Conway L, van Kalken D, Gross L, Iantosca G, Crotty W, Mathis R, Park H, Rabin B, Westgate C, Lyons M, Deshusses C, Brandon N, Brown DG, Blanchette HS, Pullen N, Jones LH, Barrish JC.   +22 more
europepmc   +1 more source

Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation. [PDF]

Am J Med Genet A
Abdennadher M, Inati SK, Rahhal S, Khan O, Bartolini L, Thurm A, Theodore W, Miller JS, Porter FD, Bianconi S.   +9 more
europepmc   +1 more source

Chemical optimization of creatine derivatives for the treatment of creatine transporter deficiency

, 2013
Creatine transporter deficiency is a rare brain disease associated with the loss of function of the SLC6A8 (creatine transporter) leading to an absence of creatine at the cerebral level and to a dramatic neurodevelopmental retardation in the children.
openaire   +1 more source