17 Einträge gefunden

1. Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2

   1. Kloth, Katja
   2. Neu, Axel
   3. Rau, Isabella
   4. Hülsemann, Wiebke
   5. Kutsche, Kerstin
   6. Volk, Alexander E

   2021 - Forschungsinformationssystem des UKE
2. Creatine, guanidinoacetate and homoarginine in statin-induced myopathy

   1. Neu, Axel
   2. Hornig, Sönke
   3. Sasani, Ali
   4. Isbrandt, Dirk
   5. Gerloff, Christian
   6. Tsikas, Dimitris
   7. Schwedhelm, Edzard

   2020 - Forschungsinformationssystem des UKE
3. Muscle phenotype of AGAT- and GAMT-deficient mice after simvastatin exposure

   1. Sasani, Ali
   2. Hornig, Sönke
   3. Grzybowski, Ricarda
   4. Cordts, Kathrin
   5. Hanff, Erik
   6. Tsikas, Dimitris
   7. Böger, Rainer

   2020 - Forschungsinformationssystem des UKE
4. de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation

   1. Schneeberger, Pauline E
   2. Bierhals, Tatjana
   3. Neu, Axel
   4. Hempel, Maja
   5. Kutsche, Kerstin

   2019 - Forschungsinformationssystem des UKE - frei zugänglich
5. Guanidino compound ratios are associated with stroke etiology, internal carotid artery stenosis and CHA(2)DS(2)-VASc score in three cross-sectional studies

   1. Cordts, Kathrin
   2. Grzybowski, Ricarda
   3. Lezius, Susanne
   4. Lüneburg, Nicole
   5. Atzler, Dorothee
   6. Neu, Axel
   7. Hornig, Sönke

   2019 - Forschungsinformationssystem des UKE
6. Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports

   1. Kloth, Katja
   2. Synofzik, Matthis
   3. Kernstock, Christoph
   4. Schimpf-Linzenbold, Simone
   5. Schuettauf, Frank
   6. Neu, Axel
   7. Wissinger, Bernd

   2019 - Forschungsinformationssystem des UKE - frei zugänglich
7. Cognitive performance of 20 healthy humans supplemented with L-homoarginine for 4 weeks

   1. Schönhoff, Mirjam
   2. Weineck, Gabriele
   3. Hoppe, Julia
   4. Hornig, Sönke
   5. Cordts, Kathrin
   6. Atzler, Dorothee
   7. Gerloff, Christian

   2018 - Forschungsinformationssystem des UKE
8. A Mouse Model of Creatine Transporter Deficiency Reveals Impaired Motor Function and Muscle Energy Metabolism

   1. Stockebrand, Malte
   2. Sasani, Ali
   3. Das, Devashish
   4. Hornig, Sönke
   5. Hermans-Borgmeyer, Irm
   6. Lake, Hannah A
   7. Isbrandt, Dirk

   2018 - Forschungsinformationssystem des UKE - frei zugänglich
9. Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy

   1. Rolvien, Tim
   2. Butscheidt, Sebastian
   3. Jeschke, Anke
   4. Neu, Axel
   5. Denecke, Jonas
   6. Kubisch, Christian
   7. Meisler, Miriam H

   2017 - Forschungsinformationssystem des UKE
10. Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

    1. Glasgow, Ruth I C
    2. Thompson, Kyle
    3. Barbosa, Inês A
    4. He, Langping
    5. Alston, Charlotte L
    6. Deshpande, Charu
    7. Simpson, Michael A

    2017 - Forschungsinformationssystem des UKE
11. Transcriptomic and metabolic analyses reveal salvage pathways in creatine-deficient AGAT(-/-) mice

    1. Stockebrand, Malte
    2. Nejad, Ali Sasani
    3. Neu, Axel
    4. Kharbanda, Kusum K
    5. Sauter, Kathrin
    6. Schillemeit, Stefan
    7. Isbrandt, Dirk

    2016 - Forschungsinformationssystem des UKE
12. Treatment during a vulnerable developmental period rescues a genetic epilepsy

    1. Marguet, Stephan Lawrence
    2. Le-Schulte, Vu Thao Quyen
    3. Merseburg, Andrea
    4. Neu, Axel
    5. Eichler, Ronny
    6. Jakovcevski, Igor
    7. Ivanov, Anton

    2015 - Forschungsinformationssystem des UKE
13. Homoarginine supplementation improves blood glucose in diet-induced obese mice

    1. Stockebrand, Malte
    2. Hornig, Sönke
    3. Neu, Axel
    4. Atzler, Dorothee
    5. Cordts, Kathrin
    6. Böger, Rainer H
    7. Isbrandt, Dirk

    2015 - Forschungsinformationssystem des UKE
14. L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome.

    1. Choe, Chi-Un
    2. Nabuurs, Christine
    3. Stockebrand, Malte
    4. Neu, Axel
    5. Nunes, Patricia
    6. Morellini, Fabio
    7. Sauter, Kathrin

    2013 - Forschungsinformationssystem des UKE
15. Differential regulation of AMPK activation in leptin- and creatine-deficient mice

    1. Stockebrand, Malte
    2. Sauter, Kathrin
    3. Neu, Axel
    4. Isbrandt, Dirk
    5. Choe, Chi-un

    2013 - Forschungsinformationssystem des UKE
16. A homozygous SCN5A mutation in a severe, recessive type of cardiac conduction disease.

    1. Neu, Axel
    2. Eiselt, Michele
    3. Paul, Matthias
    4. Sauter, Kathrin
    5. Stallmeyer, Birgit
    6. Isbrandt, Dirk
    7. Schulze-Bahr, Eric

    2010 - Forschungsinformationssystem des UKE
17. C-terminal HERG (LQT2) mutations disrupt IKr channel regulation through 14-3-3epsilon.

    1. Choe, Chi-Un
    2. Schulze-Bahr, Eric
    3. Neu, Axel
    4. Xu, Jun
    5. Zhu, Zheng I
    6. Sauter, Kathrin
    7. Bähring, Robert

    2006 - Forschungsinformationssystem des UKE