Zobrazeno 1 - 6
of 6
pro vyhledávání: '"David Amschl"'
Publikováno v:
Molecular Genetics and Metabolism. 126:S108-S109
Gaucher disease is the most prevalent lysosomal storage disorder and is caused by autosomal recessive mutations in the glucocerebrosidase gene. Glucocerebrosidase (GCase) hydrolyses the sphingolipid glucoceramide to glucose and ceramide. Deficiency i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d35efcbce3c98f61491c0c69c8a8d31d
https://doi.org/10.1016/j.ymgme.2018.12.274
https://doi.org/10.1016/j.ymgme.2018.12.274
Autor:
Eliezer Masliah, H. Roemer, Edward Rockenstein, Roland Rabl, Stefanie Flunkert, C. Breitschaedel, S. Duller, Jörg Neddens, Birgit Hutter-Paier, David Amschl, V. Niederkofler
Publikováno v:
BMC Neuroscience
Background Synucleinopathies such as Parkinson’s disease or multiple system atrophy are characterized by Lewy bodies in distinct brain areas. These aggregates are mainly formed by α-synuclein inclusions, a protein crucial for synaptic functions in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26f58acd4f0604189da8b9044f32b0d2
http://europepmc.org/articles/PMC5282838
http://europepmc.org/articles/PMC5282838
Autor:
Roland Rabl, David Amschl, Birgit Hutter-Paier, Ewald Auer, Joerg Neddens, Stephan Duller, Vera Niederkofler, Stefanie Flunkert
Publikováno v:
Molecular Genetics and Metabolism. 123:S46-S47
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1da66c6f1daca84a76f40c237a2a9b36
https://doi.org/10.1016/j.ymgme.2017.12.105
https://doi.org/10.1016/j.ymgme.2017.12.105
Autor:
David Amschl, Magdalena Temmel, Birgit Hutter-Paier, Joerg Neddens, Tina Loeffler, Irene Schilcher
Publikováno v:
Alzheimer's & Dementia. 15:P1296-P1296
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b3a2c4f15b44509f56a1a6fff402e937
https://doi.org/10.1016/j.jalz.2019.06.3721
https://doi.org/10.1016/j.jalz.2019.06.3721
Autor:
Elisabet Ohlin Sjöström, Birgit Hutter-Paier, Susanne Gustavsson, Vera Niederkofler, David Amschl, Joerg Neddens, Ewald Auer
Publikováno v:
Molecular Genetics and Metabolism. 126:S109
Mucopolysaccharidosis IIIA (MPS IIIA), also known as Sanfilippo syndrome type A, is an autosomal recessive lysosomal storage disorder. The disease is characterized by severe and progressive loss of cognitive and motor functions, behavioral deficits a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a460c56a554148d0841f67283ae7008b
https://doi.org/10.1016/j.ymgme.2018.12.276
https://doi.org/10.1016/j.ymgme.2018.12.276
Autor:
Edward Rockenstein, Birgit Hutter-Paier, Eliezer Masliah, David Amschl, Roland Rabl, Jörg Neddens, Heinrich Römer, Daniel Havas, Manfred Windisch, Stefanie Flunkert
Publikováno v:
BMC Neuroscience, Vol 14, Iss 1, p 6 (2013)
BMC Neuroscience
BMC Neuroscience
Background Progressive accumulation of α-synuclein (α-Syn) protein in different brain regions is a hallmark of synucleinopathic diseases, such as Parkinson’s disease, dementia with Lewy bodies and multiple system atrophy. α-Syn transgenic mouse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f6c14115b9a06be6ad2009cf94bd2d3
http://www.biomedcentral.com/1471-2202/14/6
http://www.biomedcentral.com/1471-2202/14/6