Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Esther Gill"'
Autor:
Werner Stenzel, Christian Hagel, Alfried Kohlschütter, Randi Koll, Josefine Radke, Esther Gill, Hans H. Goebel, Angela Schulz, Lars Wiese, Markus Schuelke
Publikováno v:
Annals of Clinical and Translational Neurology
Objective The neuronal ceroid lipofuscinoses (NCL) are genetic degenerative disorders of brain and retina. NCL with juvenile onset (JNCL) is genetically heterogeneous but most frequently caused by mutations of CLN3. Classical juvenile CLN3 includes a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d632aa34236ed450893c5278402feac4
http://europepmc.org/articles/PMC6243389
http://europepmc.org/articles/PMC6243389
Autor:
Susanne Morales-Gonzalez, Gajja S. Salomons, Esther Gill, Anja von Renesse, Markus Schuelke, Werner Stenzel
Publikováno v:
JIMD Reports, 27-35
STARTPAGE=27;ENDPAGE=35;TITLE=JIMD Reports
von Renesse, A, Morales-Gonzalez, S, Gill, E, Salomons, G S, Stenzel, W & Schuelke, M 2019, Muscle weakness, cardiomyopathy, and l-2-hydroxyglutaric aciduria associated with a novel recessive SLC25A4 mutation . in JIMD Reports . JIMD Reports, vol. 43, Springer, pp. 27-35 . https://doi.org/10.1007/8904_2018_93
JIMD Reports ISBN: 9783662586136
STARTPAGE=27;ENDPAGE=35;TITLE=JIMD Reports
von Renesse, A, Morales-Gonzalez, S, Gill, E, Salomons, G S, Stenzel, W & Schuelke, M 2019, Muscle weakness, cardiomyopathy, and l-2-hydroxyglutaric aciduria associated with a novel recessive SLC25A4 mutation . in JIMD Reports . JIMD Reports, vol. 43, Springer, pp. 27-35 . https://doi.org/10.1007/8904_2018_93
JIMD Reports ISBN: 9783662586136
Background: Mutations in SLC25A4 (syn. ANT1, Adenine nucleotide translocase, type 1) are known to cause either autosomal dominant progressive external ophthalmoplegia (adPEO) or recessive mitochondrial myopathy, hypertrophic cardiomyopathy, and lacti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bbc2994f9d7d12e08645d292ec753d3
https://research.vumc.nl/en/publications/b567a572-4252-423c-aa1e-b208b0e86f96
https://research.vumc.nl/en/publications/b567a572-4252-423c-aa1e-b208b0e86f96
Autor:
Markus Schuelke, Zoltan Lukacs, Thomas F. Wienker, Esther Gill, Ellen Knierim, Luciana Musante, Hans-Hilger Ropers, Christoph Hübner, Hao Hu
Publikováno v:
European journal of human genetics
Kluver-Bucy syndrome (KBS) comprises a set of neurobehavioral symptoms with psychic blindness, hypersexuality, disinhibition, hyperorality, and hypermetamorphosis that were originally observed after bilateral lobectomy in Rhesus monkeys. We investiga
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::581aaf0777a5541394c47643f531b0ec
https://doi.org/10.1038/ejhg.2016.149
https://doi.org/10.1038/ejhg.2016.149
Autor:
Werner Stenzel, Ayelet Halevy, Rachel Straussberg, John Rendu, Esther Gill, Gudrun Schottmann, Franziska Seifert, Peter F.M. van der Ven, Kaiyal Qassem, Markus Schuelke, Menachem Sadeh
Publikováno v:
Acta Neuropathologica. 132:475-478
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::61f893a35aeee7ee59cbb31c397ecf9f
https://doi.org/10.1007/s00401-016-1602-9
https://doi.org/10.1007/s00401-016-1602-9
Autor:
Ronald J.A. Wanders, Natalie Weinhold, Esther Gill, Gudrun Schottmann, Sacha Ferdinandusse, Akosua Sarpong, Markus Schuelke, Carmen Lorenz, Alessandro Prigione, Lisa Teschner
Publikováno v:
Movement Disorders. 31:1733-1739
BACKGROUND: Recessive mutations in the 3-hydroxyisobutyryl-CoA hydrolase gene (HIBCH) are associated with a rare neurodegenerative disease that affects the basal ganglia. Most patients die during infancy or early childhood. Here we describe 5 adolesc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::597234ca53fb5d072bc5adf019feec9c
https://doi.org/10.1002/mds.26704
https://doi.org/10.1002/mds.26704
Autor:
Laurie G. Smith, Esther Gill, Markus Buelow, Ellen Knierim, David Süßmut, Markus Schuelke, Jutta Köhler
Publikováno v:
Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bf5799dc4ab05e49e0d961ed536b3990
https://doi.org/10.1055/s-0038-1675995
https://doi.org/10.1055/s-0038-1675995
Autor:
Esther Gill, Anna Rajab, Ellen Knierim, Susanne Morales Gonzalez, Markus Schuelke, Angelika Zwirner, Franziska Seifert
Publikováno v:
Journal of Medical Genetics. 52:607-611
Background Various genetic defects cause autism associated with intellectual disability and epilepsy. Here, we set out to identify the genetic defect in a consanguineous Omani family with three affected children in whom mutations in known candidate g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::320b7a6817ca5dc74e538fe63054ffee
https://doi.org/10.1136/jmedgenet-2015-103083
https://doi.org/10.1136/jmedgenet-2015-103083
Autor:
Susanne Morales-Gonzalez, Janbernd Kirschner, Klaus Zerres, Mickael Orgeur, Gudrun Schottmann, Esther Gill, Werner Stenzel, Ellen Knierim, Nicole I. Wolf, Hiromi Hirata, Angelika Zwirner, Yu Tanaka, Anne van Riesen, Stefanie Vogt, Markus Schuelke, Franziska Seifert, David Meierhofer, Sigmar Stricker, Sabine Rudnik-Schöneborn, Christoph Hübner, Hans H. Goebel
Publikováno v:
Knierim, E, Hirata, H, Wolf, N I, Morales-Gonzalez, S, Schottmann, G, Tanaka, Y, Rudnik-Schoeneborn, S, Orgeur, M, Zerres, K, Vogt, S, van Riesen, A, Gill, E, Seifert, F, Zwirner, A, Kirschner, J, Goebel, H H, Huebner, C, Stricker, S, Meierhofer, D, Stenzel, W & Schuelke, M 2016, ' Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures ', American journal of human genetics, vol. 98, no. 3, pp. 473-489 . https://doi.org/10.1016/j.ajhg.2016.01.006
American journal of human genetics, 98(3), 473-489. Cell Press
The American Journal of Human Genetics
American journal of human genetics, 98(3), 473-489. Cell Press
The American Journal of Human Genetics
Transcriptional signal cointegrators associate with transcription factors or nuclear receptors and coregulate tissue-specific gene transcription. We report on recessive loss-of-function mutations in two genes ( TRIP4 and ASCC1 ) that encode subunits
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51cad6315823e681cf1c418a827a08ad
https://research.vumc.nl/en/publications/428dee52-c1cb-4f2f-a2f9-4eb78ff25e93
https://research.vumc.nl/en/publications/428dee52-c1cb-4f2f-a2f9-4eb78ff25e93
Autor:
Gudrun, Schottmann, Akosua, Sarpong, Carmen, Lorenz, Natalie, Weinhold, Esther, Gill, Lisa, Teschner, Sacha, Ferdinandusse, Ronald J A, Wanders, Alessandro, Prigione, Markus, Schuelke
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 31(11)
Recessive mutations in the 3-hydroxyisobutyryl-CoA hydrolase gene (HIBCH) are associated with a rare neurodegenerative disease that affects the basal ganglia. Most patients die during infancy or early childhood. Here we describe 5 adolescent and adul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2008ca2297fc85bc4cd2d81114ee460d
https://pubmed.ncbi.nlm.nih.gov/27400804
https://pubmed.ncbi.nlm.nih.gov/27400804
Autor:
Karima Relizani, Esther Gill, Mina V. Petkova, Josefine Radke, Werner Stenzel, Markus Schuelke, Luis Garcia, Susanne Morales-Gonzales, Helge Amthor, Franziska Seifert
Publikováno v:
Skeletal Muscle
Skeletal Muscle, BioMed Central, 2016, 6 (1), ⟨10.1186/s13395-016-0095-5⟩
Skeletal Muscle, BioMed Central, 2016, 6 (1), ⟨10.1186/s13395-016-0095-5⟩
Background Dystrophin is a rod-shaped cytoplasmic protein that provides sarcolemmal stability as a structural link between the cytoskeleton and the extracellular matrix via the dystrophin-associated protein complex (DAPC). Mutations in the dystrophin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f57694607a09c648ec093e5fa30027b0
https://refubium.fu-berlin.de/handle/fub188/15374
https://refubium.fu-berlin.de/handle/fub188/15374