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- Text 17
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Autor/in
- Neu, Axel
- Isbrandt, Dirk 8
- Choe, Chi-Un 7
- Hornig, Sönke 6
- Sauter, Kathrin 5
- alle zeigen
Sprache
17 Einträge gefunden
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Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2
2021 - Forschungsinformationssystem des UKE -
Muscle phenotype of AGAT- and GAMT-deficient mice after simvastatin exposure
- Sasani, Ali
- Hornig, Sönke
- Grzybowski, Ricarda
- Cordts, Kathrin
- Hanff, Erik
- Tsikas, Dimitris
- Böger, Rainer
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Creatine, guanidinoacetate and homoarginine in statin-induced myopathy
- Neu, Axel
- Hornig, Sönke
- Sasani, Ali
- Isbrandt, Dirk
- Gerloff, Christian
- Tsikas, Dimitris
- Schwedhelm, Edzard
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Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports
- Kloth, Katja
- Synofzik, Matthis
- Kernstock, Christoph
- Schimpf-Linzenbold, Simone
- Schuettauf, Frank
- Neu, Axel
- Wissinger, Bernd
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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
- Cordts, Kathrin
- Grzybowski, Ricarda
- Lezius, Susanne
- Lüneburg, Nicole
- Atzler, Dorothee
- Neu, Axel
- Hornig, Sönke
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Cognitive performance of 20 healthy humans supplemented with L-homoarginine for 4 weeks
- Schönhoff, Mirjam
- Weineck, Gabriele
- Hoppe, Julia
- Hornig, Sönke
- Cordts, Kathrin
- Atzler, Dorothee
- Gerloff, Christian
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A Mouse Model of Creatine Transporter Deficiency Reveals Impaired Motor Function and Muscle Energy Metabolism
- Stockebrand, Malte
- Sasani, Ali
- Das, Devashish
- Hornig, Sönke
- Hermans-Borgmeyer, Irm
- Lake, Hannah A
- Isbrandt, Dirk
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Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
- Glasgow, Ruth I C
- Thompson, Kyle
- Barbosa, Inês A
- He, Langping
- Alston, Charlotte L
- Deshpande, Charu
- Simpson, Michael A
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Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy
- Rolvien, Tim
- Butscheidt, Sebastian
- Jeschke, Anke
- Neu, Axel
- Denecke, Jonas
- Kubisch, Christian
- Meisler, Miriam H
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Homoarginine supplementation improves blood glucose in diet-induced obese mice
- Stockebrand, Malte
- Hornig, Sönke
- Neu, Axel
- Atzler, Dorothee
- Cordts, Kathrin
- Böger, Rainer H
- Isbrandt, Dirk
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Treatment during a vulnerable developmental period rescues a genetic epilepsy
- Marguet, Stephan Lawrence
- Le-Schulte, Vu Thao Quyen
- Merseburg, Andrea
- Neu, Axel
- Eichler, Ronny
- Jakovcevski, Igor
- Ivanov, Anton
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L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome.
- Choe, Chi-Un
- Nabuurs, Christine
- Stockebrand, Malte
- Neu, Axel
- Nunes, Patricia
- Morellini, Fabio
- Sauter, Kathrin
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Differential regulation of AMPK activation in leptin- and creatine-deficient mice
2013 - Forschungsinformationssystem des UKE -
A homozygous SCN5A mutation in a severe, recessive type of cardiac conduction disease.
- Neu, Axel
- Eiselt, Michele
- Paul, Matthias
- Sauter, Kathrin
- Stallmeyer, Birgit
- Isbrandt, Dirk
- Schulze-Bahr, Eric
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C-terminal HERG (LQT2) mutations disrupt IKr channel regulation through 14-3-3epsilon.
2006 - Forschungsinformationssystem des UKE