Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Stefanie Kalb"'
Autor:
Pascale Baden, Maria Jose Perez, Hariam Raji, Federico Bertoli, Stefanie Kalb, María Illescas, Fokion Spanos, Claudio Giuliano, Alessandra Maria Calogero, Marvin Oldrati, Hannah Hebestreit, Graziella Cappelletti, Kathrin Brockmann, Thomas Gasser, Anthony H. V. Schapira, Cristina Ugalde, Michela Deleidi
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)
GBA1 mutations cause Gaucher’s disease and are the strongest risk factor for Parkinson’s disease. Using stable cell lines and patient iPSCs, the authors show mitochondrial localization of GBA1, which may affect neurodegenerative disease risk.
Externí odkaz:
https://doaj.org/article/761b2e45e4dd4fa280b1024c64572ba2
Autor:
Pascale Baden, Maria-Jose Perez, Stefanie Kalb, Hariam Raji, María Illescas, Claudio Giuliano, Federico Bertoli, Marvin Oldrati, Alessandra Calogero, Graziella Cappelletti, Kathrin Brockmann, Thomas Gasser, Anthony H V Schapira, Cristina Ugalde, Michela Deleidi
Mutations in the lysosomal enzyme β-glucocerebrosidase (GCase), which cause Gaucher's disease, are the most frequent genetic risk factor for Parkinson’s disease (PD). Here, we employed global proteomic and single-cell genomic approaches in stable
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4449124fac4e6099368591cfaa75221a
https://doi.org/10.21203/rs.3.rs-1521848/v1
https://doi.org/10.21203/rs.3.rs-1521848/v1
Autor:
María José Pérez, Dario Brunetti, Vasiliki Panagiotakopoulou, Gabriele Di Napoli, Mathias Jucker, Michela Deleidi, Sabine Anne-Kristin Fraschka, Massimo Zeviani, Dina Ivanyuk, Rawaa Al-Shaana, Stefanie Kalb, Carlo Viscomi, Stephan A. Kaeser
Publikováno v:
Molecular Psychiatry
Molecular psychiatry 26(10), 5733-5750 (2021). doi:10.1038/s41380-020-0807-4
Molecular psychiatry 26(10), 5733-5750 (2021). doi:10.1038/s41380-020-0807-4
sMutations in pitrilysin metallopeptidase 1 (PITRM1), a mitochondrial protease involved in mitochondrial precursor processing and degradation, result in a slow-progressing syndrome characterized by cerebellar ataxia, psychotic episodes, and obsessive
Publikováno v:
Wiener klinische Wochenschrift Education. 5:73-94
Publikováno v:
Perceptual and Motor Skills. 98:793-802
Many anatomical and brain mapping studies show a higher bilateral symmetry of female brains and a higher asymmetry of male brains so correlations between simple visual and auditory, left- and right-hand reaction times were examined for such sex diffe
Publikováno v:
Pediatric neurology. 45(4)
Canavan disease, an autosomal recessive inherited leukodystrophy caused by an aspartoacylase deficiency, is common among children of Ashkenazi Jewish descent. We report on a non-Jewish female infant who presented at age 6 months with progressive macr
Autor:
Stefanie, Kalb
Publikováno v:
Wurzburger medizinhistorische Mitteilungen. 23
Physicians who prescribe medicaments to patients are the preferred target group of sales promotion by pharmaceutical industry. As studies show, pharmaceutical advertising actually exerts some influence on a physician's knowledge and habit of prescrib