Zobrazeno 1 - 10
of 421
pro vyhledávání: '"Gisela Stoltenburg-Didinger"'
Autor:
Tobias Winkler, Carsten Perka, Philipp vonRoth, Alison N. Agres, Henning Plage, Bernd Preininger, Matthias Pumberger, Sven Geissler, Esther Lukasiewicz Hagai, Racheli Ofir, Lena Pinzur, Eli Eyal, Gisela Stoltenburg‐Didinger, Christian Meisel, Christine Consentius, Mathias Streitz, Petra Reinke, Georg N. Duda, Hans‐Dieter Volk
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 9, Iss 5, Pp 880-897 (2018)
Abstract Background No regenerative approach has thus far been shown to be effective in skeletal muscle injuries, despite their high frequency and associated functional deficits. We sought to address surgical trauma‐related muscle injuries using lo
Externí odkaz:
https://doaj.org/article/a39b3ef4c8ba4bb799b90d26a06ddbe2
Publikováno v:
Stem Cell Reports, Vol 8, Iss 2, Pp 198-204 (2017)
Gene products linked to microcephaly have been studied foremost for their role in brain development, while their function in the development of other organs has been largely neglected. Here, we report the critical role of Cdk5rap2 in maintaining the
Externí odkaz:
https://doaj.org/article/fed2ced7d9f34fabbfc449577d72938e
Autor:
Anja Brinckmann, Claudia Weiss, Friederike Wilbert, Arpad von Moers, Angelika Zwirner, Gisela Stoltenburg-Didinger, Ekkehard Wilichowski, Markus Schuelke
Publikováno v:
PLoS ONE, Vol 5, Iss 10, p e13513 (2010)
Human patients with myoclonic epilepsy with ragged-red fibers (MERRF) suffer from regionalized pathology caused by a mutation in the mitochondrial DNA (m.8344A→G). In MERRF-syndrome brain and skeletal muscles are predominantly affected, despite mtD
Externí odkaz:
https://doaj.org/article/51d329bc1dd844f78f6fd4c0d1b6552f
Autor:
Alexander, Mensch, Isabell, Cordts, Leila, Scholle, Pushpa Raj, Joshi, Kathleen, Kleeberg, Alexander, Emmer, Stefanie, Beck-Woedl, Joohyun, Park, Tobias B, Haack, Gisela, Stoltenburg-Didinger, Stephan, Zierz, Marcus, Deschauer
Publikováno v:
Journal of Neuromuscular Diseases. 9:533-541
GFPT1-related congenital myasthenic syndrome (CMS) is characterized by progressive limb girdle weakness, and less prominent involvement of facial, bulbar, or respiratory muscles. While tubular aggregates in muscle biopsy are considered highly indicat
Autor:
Chiara Klöckner, J Pedro Fernández-Murray, Mahtab Tavasoli, Heinrich Sticht, Gisela Stoltenburg-Didinger, Leila Motlagh Scholle, Somayeh Bakhtiari, Michael C Kruer, Hossein Darvish, Saghar Ghasemi Firouzabadi, Alex Pagnozzi, Anju Shukla, Katta Mohan Girisha, Dhanya Lakshmi Narayanan, Parneet Kaur, Reza Maroofian, Maha S Zaki, Mahmoud M Noureldeen, Andreas Merkenschlager, Janina Gburek-Augustat, Elisa Cali, Selina Banu, Kamrun Nahar, Stephanie Efthymiou, Henry Houlden, Rami Abou Jamra, Jason Williams, Christopher R McMaster, Konrad Platzer
Publikováno v:
Brain
The Kennedy pathways catalyse the de novo synthesis of phosphatidylcholine and phosphatidylethanolamine, the most abundant components of eukaryotic cell membranes. In recent years, these pathways have moved into clinical focus because four of ten gen
Autor:
Gisela Stoltenburg-Didinger, Angela M. Kaindl, Michael Hummel, Joanna Schneider, Fabienne Paschereit, Kim Hannah Schindelmann
Publikováno v:
Pediatric and Developmental Pathology. 25:107-123
Introduction Spina bifida (SB) is the most common neural tube defect in humans. Here, we analyzed systematically the neuropathological findings of the brain in SB cases. Methods 79 cases with SB aperta (SBA) and 6 cases with SB occulta (SBO) autopsie
Autor:
Sylvie Picker-Minh, Ilaria Luperi, Ethiraj Ravindran, Nadine Kraemer, Sami Zaqout, Gisela Stoltenburg-Didinger, Olaf Ninnemann, Luis R. Hernandez-Miranda, Shyamala Mani, Angela M. Kaindl
Publikováno v:
The Cerebellum.
Hom ozygous variants in the peptidyl-tRNA hydrolase 2 gene (PTRH2) cause infantile-onset multisystem neurologic, endocrine, and pancreatic disease. The objective is to delineate the mechanisms underlying the core cerebellar phenotype in this disease.
Autor:
Gisela Stoltenburg-Didinger, Angela M. Kaindl, Fabienne Paschereit, Alexandra Steege, Kim Hannah Schindelmann
Publikováno v:
Journal of Neuropathology & Experimental Neurology. 80:294-305
Spina bifida (SB) is an umbrella term for multiple conditions characterized by misclosure of vertebral arches. Neuropathologic findings in SB cases are often reported with imprecise and overlapping terminology. In view of the increasing identificatio
Publikováno v:
Acta Neuropathologica. 144:391-392
Autor:
Wolfgang Brück, Caroline G. Bergner, Martin S. Weber, Nafiye Genc, Franziska van der Meer, Jörn-Sven Kühl, Wolfgang Köhler, Christine Stadelmann, Gisela Stoltenburg-Didinger, Simon Hametner, Jonas Franz, Miso Mitkovski, Jutta Gärtner
Publikováno v:
Glia
Cerebral disease manifestation occurs in about two thirds of males with X-linked adrenoleukodystrophy (CALD) and is fatally progressive if left untreated. Early histopathologic studies categorized CALD as an inflammatory demyelinating disease, which