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15 Einträge gefunden

Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2
2021 - Forschungsinformationssystem des UKE
Creatine, guanidinoacetate and homoarginine in statin-induced myopathy
2020 - Forschungsinformationssystem des UKE
Muscle phenotype of AGAT- and GAMT-deficient mice after simvastatin exposure
2020 - Forschungsinformationssystem des UKE
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports
2019 - Forschungsinformationssystem des UKE - frei zugänglich
de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation
2019 - Forschungsinformationssystem des UKE - frei zugänglich
Guanidino compound ratios are associated with stroke etiology, internal carotid artery stenosis and CHA(2)DS(2)-VASc score in three cross-sectional studies
2019 - Forschungsinformationssystem des UKE
A Mouse Model of Creatine Transporter Deficiency Reveals Impaired Motor Function and Muscle Energy Metabolism
2018 - Forschungsinformationssystem des UKE - frei zugänglich
Cognitive performance of 20 healthy humans supplemented with L-homoarginine for 4 weeks
2018 - Forschungsinformationssystem des UKE
Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy
2017 - Forschungsinformationssystem des UKE
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
2017 - Forschungsinformationssystem des UKE
Transcriptomic and metabolic analyses reveal salvage pathways in creatine-deficient AGAT(-/-) mice
2016 - Forschungsinformationssystem des UKE
Treatment during a vulnerable developmental period rescues a genetic epilepsy
2015 - Forschungsinformationssystem des UKE
Homoarginine supplementation improves blood glucose in diet-induced obese mice
2015 - Forschungsinformationssystem des UKE
Differential regulation of AMPK activation in leptin- and creatine-deficient mice
2013 - Forschungsinformationssystem des UKE
L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome.
2013 - Forschungsinformationssystem des UKE

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Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2

Creatine, guanidinoacetate and homoarginine in statin-induced myopathy

Muscle phenotype of AGAT- and GAMT-deficient mice after simvastatin exposure

Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports

de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation

Guanidino compound ratios are associated with stroke etiology, internal carotid artery stenosis and CHA(2)DS(2)-VASc score in three cross-sectional studies

A Mouse Model of Creatine Transporter Deficiency Reveals Impaired Motor Function and Muscle Energy Metabolism

Cognitive performance of 20 healthy humans supplemented with L-homoarginine for 4 weeks

Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

Transcriptomic and metabolic analyses reveal salvage pathways in creatine-deficient AGAT(-/-) mice

Treatment during a vulnerable developmental period rescues a genetic epilepsy

Homoarginine supplementation improves blood glucose in diet-induced obese mice

Differential regulation of AMPK activation in leptin- and creatine-deficient mice

L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome.