Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Jutta Becker"'
Autor:
Elke Kalbe, Mandy Roheger, Kay Paluszak, Julia Meyer, Jutta Becker, Gereon R. Fink, Juraj Kukolja, Andreas Rahn, Florian Szabados, Brunhilde Wirth, Josef Kessler
Publikováno v:
Frontiers in Aging Neuroscience, Vol 10 (2018)
Background: Combining cognitive training (CT) with physical activity (CPT) has been suggested to be most effective in maintaining cognition in healthy older adults, but data are scarce and inconsistent regarding long-term effects (follow-up; FU) and
Externí odkaz:
https://doaj.org/article/3f8490c63f714ac2a621f93ff8359d95
Autor:
Tobias Grass, Ines Rosignol, Joshua Thomas, Felix Buchner, Zeynep Dokuzluoglu, Anna Dalinskaya, Jutta Becker, Brunhilde Wirth, Natalia Rodriguez-Muela
Whether neurodevelopmental defects underlie the selective neuronal death that characterizes neurodegenerative diseases is becoming an intriguing question. To address it, we focused on the motor neuron (MN) disease Spinal Muscular Atrophy (SMA), cause
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::42891555cc2f2b2f56939fd4330fa894
https://doi.org/10.1101/2023.01.02.522499
https://doi.org/10.1101/2023.01.02.522499
Publikováno v:
Neurology. 95(3)
Publikováno v:
Pediatric Nephrology. 32:2263-2271
There are currently three distinct autosomal recessive inherited types of primary hyperoxaluria (PH: PHI, PHII, and PHIII), all characterized by the endogenous overproduction of oxalate. The PH type is difficult to differentiate by clinical features
Publikováno v:
Neurology. 95:145-145
We thank Dangouloff et al. for their comments on our clinical/scientific note.1 They compared the SMN2 copies in 35 SMA patients using 2 different MPLA kits: SALSA MLPA kit P021-A2 and P021-B1 (the latter recognizes each SMN exon; launched Dec. 2018)
Publikováno v:
Pediatric nephrology (Berlin, Germany). 33(7)
The unit of the HOG-creatinine ratio presented in this article is calculated in μmol/mg creatinine instead of the demonstrated unit of μmol/μmol. This applies to the parameter in the text of the article and the labeling of Figs. 1, 2b and 3c.
Autor:
Hee Seok Kweon, Tobias Lindig, Oliver Semler, Jinoh Kim, Andrea Bevot, Filippo Beleggia, Bernd Wollnik, Ravi Savarirayan, Lutz Garbes, Mi Jeong Kim, Kyung Ho Kim, Jutta Becker, David J. Amor, Purvi M. Kakadia, Simeon A. Boyadjiev, Angelika Rieß, Heike Hoyer-Kuhn, Karl Oliver Kagan, Stefan K. Bohlander, Christian Netzer, Yang Hoon Huh
Publikováno v:
The American Journal of Human Genetics. 96:432-439
As a result of a whole-exome sequencing study, we report three mutant alleles in SEC24D, a gene encoding a component of the COPII complex involved in protein export from the ER: the truncating mutation c.613C>T (p.Gln205∗) and the missense mutation
Autor:
Michaela Thoenes, Peter Herkenrath, Jutta Becker, Gudrun Nürnberg, Ruth Lang-Roth, Walid Fazeli, Julia Fricke, Barbara Stiller, Antje Neugebauer, Janine Altmüller, Raoul Heller, Alexander E Volk, Christian Kubisch
Publikováno v:
Human molecular genetics 26(20), 4055-4066 (2017). doi:10.1093/hmg/ddx296
Congenital cranial dysinnervation disorders (CCDDs) comprise a heterogeneous spectrum of diseases characterized by congenital, non-progressive impairment of eye, eyelid and/or facial movements including Möbius syndrome, Duane retraction syndrome, co
Autor:
Christian Netzer, Bernd Wollnik, Katharina Zimmermann, Heike Hoyer-Kuhn, Eckhard Schoenau, Lutz Garbes, Jutta Becker, Oliver Semler
Publikováno v:
Journal of Bone and Mineral Research. 29:1387-1391
Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder characterized by a wide range of skeletal symptoms. Most patients have dominantly inherited or de novo mutations in COL1A1 or COL1A2. Up to 5% of patients have OI type V, charact
Autor:
Fulya Taylan, Hong Jiao, Christian Netzer, Jutta Becker, Riikka E. Mäkitie, Minna Pekkinen, Outi Mäkitie, Anders Kämpe, Helena Valta, Alice Costantini, Ilkka Vuorimies, Mervi K. Mäyränpää
Publikováno v:
American journal of medical genetics. Part A. 173(3)