Results 91 to 100 of about 1,441 (115)

Dysregulated circRNA-miRNA-mRNA networks reveal stage-specific mRNA expression changes in Parkinson's disease. [PDF]

Mol Brain
Gao Y, Takenaka K, Santucci K, Lindner G, Xu SM, Cheng Y, Janitz M.   +6 more
europepmc   +1 more source

Dodecyl creatine ester therapy: from promise to reality. [PDF]

Cell Mol Life Sci
Mabondzo A, van de Kamp J, Mercimek-Andrews S.   +2 more
europepmc   +1 more source

Gene Expression in Muscle-Invasive and Non-Muscle-Invasive Bladder Cancer Cells Exposed to Hypoxia. [PDF]

Cancers (Basel)
Shabbir R, Quiles CG, Lane B, Zeef L, Hoskin PJ, Choudhury A, West CML, Smith TAD.   +7 more
europepmc   +1 more source

ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes. [PDF]

Mol Genet Metab
Goldstein J, Thomas-Wilson A, Groopman E, Aggarwal V, Bianconi S, Fernandez R, Hart K, Longo N, Liang N, Reich D, Wallis H, Weaver M, Young S, Mercimek-Andrews S.   +13 more
europepmc   +1 more source

<i>DEGS1</i>-Related Hypomyelinating Leukodystrophy: Four Individuals From Same Family and Review of Literature. [PDF]

Neurol Genet
Grinberg M, Dale B, Ramachandrannair R, Tarnopolsky M, Whitney R, Ejaz R.   +5 more
europepmc   +1 more source

Whole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III. [PDF]

Mol Genet Metab Rep
Huggins E, Jackson DG, Young SP, Kishnani PS.   +3 more
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

Mutation hot spots for clinical pathogenicity across the SLC6 transporter family

Huang J, Digles D, Ecker GF.
europepmc   +1 more source