Results 101 to 110 of about 1,441 (115)

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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X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease

Molecular Genetics and Metabolism, 2023
Malene Mejdahl Nielsen, Esben T Petersen, Mette C Ørngreen   +2 more
exaly  

Cerebral creatine deficiency syndrome with a novel missense variant in SLC6A8 gene

Neurology and Clinical Neuroscience, 2023
Betul Turan, Halil Ibrahim Aydi̇N, Demet Aydogdu   +2 more
exaly  

Slc6a8-Mediated Creatine Uptake and Accumulation Reprogram Macrophage Polarization via Regulating Cytokine Responses

Immunity, 2019
Liangliang Ji, Lan Kang, Wenxin Song
exaly  

Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application

Human Mutation, 2007
Efraim H Rosenberg, Silvy J M Van Dooren, Ton J Degrauw   +2 more
exaly  

RNA Sequencing of Creatine Transporter (SLC6A8) Deficient Fibroblasts Reveals Impairment of the Extracellular Matrix

Human Mutation, 2014
Benjamin Nota, Joseph Ndika, Jiddeke M Van De Kamp   +2 more
exaly  

Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

Molecular Genetics and Metabolism, 2012
Ana Pop, Efraim H Rosenberg
exaly  

Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency

Neurogenetics, 2008
Jiddeke M Van De Kamp, Efraim H Rosenberg, Ben C J Hamel   +2 more
exaly  

Language disorder with mild intellectual disability in a child affected by a novel mutation of SLC6A8 gene

Molecular Genetics and Metabolism, 2011
Roberta Battini, Anna Maria Chilosi, Maria Grazia Alessandri   +2 more
exaly