Results 151 to 160 of about 2,677 (178)

How a patient-led advocacy organization supports the road to diagnosis and treatment of creatine transporter deficiency. [PDF]

Front Neurosci
Wallis H, Iyer S, Reinhardt EK.
europepmc   +1 more source

Precision gene diagnosis and treatment of epilepsy: a new frontier in medical care. [PDF]

Acta Epileptol
Mu J, Jiang W, Tang Y, Zhou D, Liao W.
europepmc   +1 more source

Establishment and analysis of a novel diagnostic model for systemic juvenile idiopathic arthritis based on machine learning. [PDF]

Pediatr Rheumatol Online J
Ding P, Du Y, Jiang X, Chen H, Huang L.
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Myeloid cell-derived creatine in the hypoxic niche promotes glioblastoma growth. [PDF]

Cell Metab
Rashidi A, Billingham LK, Zolp A, Chia TY, Silvers C, Katz JL, Park CH, Delay S, Boland L, Geng Y, Markwell SM, Dmello C, Arrieta VA, Zilinger K, Jacob IM, Lopez-Rosas A, Hou D, Castro B, Steffens AM, McCortney K, Walshon JP, Flowers MS, Lin H, Wang H, Zhao J, Sonabend A, Zhang P, Ahmed AU, Brat DJ, Heiland DH, Lee-Chang C, Lesniak MS, Chandel NS, Miska J.   +33 more
europepmc   +1 more source

Mutation hot spots for clinical pathogenicity across the SLC6 transporter family

Huang J, Digles D, Ecker GF.
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Connectomic and behavioral alterations in creatine transporter deficiency are partially normalized by gene therapy

Montani C, Iovino L, Vetta FD, Pasquin Mariani JR, De Guzman AE, Gini S, Galbusera A, D’Epifanio B, Ghirardini E, Cornuti S, Dadà L, Putignano E, Alessandrì MG, Vasirani G, Bertozzi SM, Armirotti A, Baroncelli L, Gozzi A.   +17 more
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Overexpression of wild‐type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8‐deficient fibroblasts

Journal of Inherited Metabolic Disease, 2006
SummaryIn the study reported, we prove that mutations in the SLC6A8 gene are responsible for SLC6A8 deficiency, a cerebral creatine deficiency syndrome (CCDS), since overexpression of the wild‐type SLC6A8 open reading frame (ORF) restores the creatine uptake profile in SLC6A8‐deficient fibroblasts.
Efraim H, Rosenberg, Cristina Martínez, Muñoz, Ton J, Degrauw, Cor nelis, Jakobs, Gajja S, Salomons   +4 more
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