Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Evelyn Botz"'
Autor:
Matthias Elstner, Evelyn Botz, Peter Lichtner, Thomas Klopstock, Christoph B. Lücking, Thomas Gasser, Konstanze Hörtnagel, Bertram Müller-Myhsok
Publikováno v:
Neuroscience Letters. 379:195-198
Pantothenate kinase-associated neurodegeneration (PKAN) may serve as a model for Parkinson disease (PD) since many PKAN patients suffer from parkinsonism and both conditions lead to iron accumulation in the basal ganglia. We screened the gene coding
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bea29d4ec69c6023b5faa24152ccbdb4
https://doi.org/10.1016/j.neulet.2004.12.061
https://doi.org/10.1016/j.neulet.2004.12.061
Autor:
Thomas Klopstock, Marina Svetel, Monika Hartig, Evelyn Botz, Holger Prokisch, Giovanna Zorzi, Markus Schuelke, Nardo Nardocci, Vladimir S. Kostic, Ivana Novakovic, Thomas Meitinger, Adolf Weindl, Kevin Rostasy, Barbara Garavaglia, Tomasz Kmieć, Konstanze Hörtnagel
Publikováno v:
Annals of neurology. 59(2)
Objective Neurodegeneration with brain iron accumulation (NBIA) is a group of disorders characterized by magnetic resonance imaging (MRI) changes in basal ganglia. Both missense and nonsense mutations have been found in such patients in a gene encodi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1cd3be2818a664dc9a5722e69f69642
https://pubmed.ncbi.nlm.nih.gov/16437574
https://pubmed.ncbi.nlm.nih.gov/16437574
Autor:
Konstanze Hörtnagel, Nardo Nardocci, Thomas Klopstock, Evelyn Botz, Thomas Meitinger, Giovanna Zorzi, B. Garavaglia
Publikováno v:
Scopus-Elsevier
Common clinical, radiologic, and pathologic features in infantile neuroaxonal dystrophy (INAD) and pantothenate kinase-associated neurodegeneration (PKAN) have led to the hypothesis of an allelic relationship. With the discovery of the gene defect in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0442689e62dd92bcca32936e9926d018
https://pubmed.ncbi.nlm.nih.gov/15365152
https://pubmed.ncbi.nlm.nih.gov/15365152
Autor:
Monika B. Hartig, Konstanze Hörtnagel, Barbara Garavaglia, Giovanna Zorzi, Tomasz Kmiec, Thomas Klopstock, Kevin Rostasy, Marina Svetel, Vladimir S. Kostic, Markus Schuelke, Evelyn Botz, Adolf Weindl, Ivana Novakovic, Nardo Nardocci, Holger Prokisch, Thomas Meitinger
Publikováno v:
Annals of Neurology; Feb2006, Vol. 59 Issue 2, p248-256, 9p