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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 11
2024
Farrell, Kurt; Humphrey, Jack 
ORCID: https://orcid.org/0000-0002-6274-6620; Chang, Timothy ORCID: https://orcid.org/0000-0002-9225-9874; Zhao, Yi; Leung, Yuk Yee ORCID: https://orcid.org/0000-0002-3047-5440; Kuksa, Pavel P. ORCID: https://orcid.org/0000-0003-2248-6403; Patil, Vishakha; Lee, Wan-Ping ORCID: https://orcid.org/0000-0002-5305-1181; Kuzma, Amanda B. ORCID: https://orcid.org/0000-0002-6064-5420; Valladares, Otto ORCID: https://orcid.org/0000-0001-8055-2187; Cantwell, Laura B.; Wang, Hui; Ravi, Ashvin; De Sanctis, Claudia; Han, Natalia; Christie, Thomas D.; Afzal, Robina; Kandoi, Shrishtee; Whitney, Kristen; Krassner, Margaret M.; Ressler, Hadley; Kim, SoongHo; Dangoor, Diana; Iida, Megan A.; Casella, Alicia; Walker, Ruth H.; Nirenberg, Melissa J. ORCID: https://orcid.org/0000-0003-3892-6733; Renton, Alan E. ORCID: https://orcid.org/0000-0001-6702-8268; Babrowicz, Bergan; Coppola, Giovanni; Raj, Towfique ORCID: https://orcid.org/0000-0002-9355-5704; Höglinger, Günter U. ORCID: https://orcid.org/0000-0001-7587-6187; Müller, Ulrich; Golbe, Lawrence I.; Morris, Huw R. ORCID: https://orcid.org/0000-0002-5473-3774; Hardy, John; Revesz, Tamas; Warner, Tom T. ORCID: https://orcid.org/0000-0001-6195-6995; Jaunmuktane, Zane ORCID: https://orcid.org/0000-0001-7738-8881; Mok, Kin Y.; Rademakers, Rosa ORCID: https://orcid.org/0000-0002-4049-0863; Dickson, Dennis W. ORCID: https://orcid.org/0000-0001-7189-7917; Ross, Owen A. ORCID: https://orcid.org/0000-0003-4813-756X; Wang, Li-San; Goate, Alison ORCID: https://orcid.org/0000-0002-0576-2472; Schellenberg, Gerard; Geschwind, Daniel H. ORCID: https://orcid.org/0000-0003-2896-3450; Hopfner, Franziska ORCID: https://orcid.org/0000-0001-6524-0281; Roeber, Sigrun; Herms, Jochen; Troakes, Claire; Gelpi, Ellen; Compta, Yaroslau; Swieten, John C. van; Rajput, Alex; Hinton, Fairlie; Yebenes, Justo García de; Crary, John F. ORCID: https://orcid.org/0000-0002-0556-293X und Naj, Adam ORCID: https://orcid.org/0000-0002-9621-2942
(2024):
Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes.
In: Nature Communications, Bd. 15, 7880
[PDF, 4MB]
ORCID: https://orcid.org/0000-0002-6274-6620; Chang, Timothy ORCID: https://orcid.org/0000-0002-9225-9874; Zhao, Yi; Leung, Yuk Yee ORCID: https://orcid.org/0000-0002-3047-5440; Kuksa, Pavel P. ORCID: https://orcid.org/0000-0003-2248-6403; Patil, Vishakha; Lee, Wan-Ping ORCID: https://orcid.org/0000-0002-5305-1181; Kuzma, Amanda B. ORCID: https://orcid.org/0000-0002-6064-5420; Valladares, Otto ORCID: https://orcid.org/0000-0001-8055-2187; Cantwell, Laura B.; Wang, Hui; Ravi, Ashvin; De Sanctis, Claudia; Han, Natalia; Christie, Thomas D.; Afzal, Robina; Kandoi, Shrishtee; Whitney, Kristen; Krassner, Margaret M.; Ressler, Hadley; Kim, SoongHo; Dangoor, Diana; Iida, Megan A.; Casella, Alicia; Walker, Ruth H.; Nirenberg, Melissa J. ORCID: https://orcid.org/0000-0003-3892-6733; Renton, Alan E. ORCID: https://orcid.org/0000-0001-6702-8268; Babrowicz, Bergan; Coppola, Giovanni; Raj, Towfique ORCID: https://orcid.org/0000-0002-9355-5704; Höglinger, Günter U. ORCID: https://orcid.org/0000-0001-7587-6187; Müller, Ulrich; Golbe, Lawrence I.; Morris, Huw R. ORCID: https://orcid.org/0000-0002-5473-3774; Hardy, John; Revesz, Tamas; Warner, Tom T. ORCID: https://orcid.org/0000-0001-6195-6995; Jaunmuktane, Zane ORCID: https://orcid.org/0000-0001-7738-8881; Mok, Kin Y.; Rademakers, Rosa ORCID: https://orcid.org/0000-0002-4049-0863; Dickson, Dennis W. ORCID: https://orcid.org/0000-0001-7189-7917; Ross, Owen A. ORCID: https://orcid.org/0000-0003-4813-756X; Wang, Li-San; Goate, Alison ORCID: https://orcid.org/0000-0002-0576-2472; Schellenberg, Gerard; Geschwind, Daniel H. ORCID: https://orcid.org/0000-0003-2896-3450; Hopfner, Franziska ORCID: https://orcid.org/0000-0001-6524-0281; Roeber, Sigrun; Herms, Jochen; Troakes, Claire; Gelpi, Ellen; Compta, Yaroslau; Swieten, John C. van; Rajput, Alex; Hinton, Fairlie; Yebenes, Justo García de; Crary, John F. ORCID: https://orcid.org/0000-0002-0556-293X und Naj, Adam ORCID: https://orcid.org/0000-0002-9621-2942
(2024):
Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes.
In: Nature Communications, Bd. 15, 7880
[PDF, 4MB]
2022
Federti, Enrica; Matte, Alessandro; Riccardi, Veronica; Peikert, Kevin; Alper, Seth L.; Danek, Adrian; Walker, Ruth H.; Siciliano, Angela; Iatcenko, Iana; Hermann, Andreas und De Franceschi, Lucia
(2022):
Adaptative Up-Regulation of PRX2 and PRX5 Expression Characterizes Brain from a Mouse Model of Chorea-Acanthocytosis.
In: Antioxidants, Bd. 11, Nr. 1, 76
2021
Walker, Ruth H. und Danek, Adrian
(2021):
Neuroacanthocytosis - Overdue for a Taxonomic Update.
In: Tremor and Other Hyperkinetic Movements, Bd. 11, 1
2019
Walker, Ruth H.; Miranda, Marcelo; Jung, Hans H. und Danek, Adrian
(2019):
Life expectancy and mortality in chorea-acanthocytosis and McLeod syndrome.
In: Parkinsonism & Related Disorders, Bd. 60: S. 158-161
2017
Walker, Ruth H. und Danek, Adrian
(2017):
Response to "Neuroacanthocytosis: A case with unusual clinical features and novel response to treatment" by Wu et al.
In: Journal of the Neurological Sciences, Bd. 373: S. 347
Danek, Adrian und Walker, Ruth H.
(2017):
HyperCKemia instead of Hyperkalemia in Chorea-Acanthocytosis.
In: Cellular Physiology and Biochemistry, Bd. 41, Nr. 3: S. 1267-1268
2016
Lupo, Francesca; Tibaldi, Elena; Matte, Alessandro; Sharma, Alok K.; Brunati, Anna Maria; Alper, Seth L.; Zancanaro, Carlo; Benati, Donatella; Siciliano, Angela; Bertoldi, Mariarita; Zonta, Francesca; Storch, Alexander; Walker, Ruth H.; Danek, Adrian; Bader, Benedikt; Hermann, Andreas und De Franceschi, Lucia
(2016):
A new molecular link between defective autophagy and erythroid abnormalities in chorea-acanthocytosis.
In: Blood, Bd. 128, Nr. 25: S. 2976-2987
2012
De Franceschi, Lucia; Scardoni, Giovanni; Tomelleri, Carlo; Danek, Adrian; Walker, Ruth H.; Jung, Hans H.; Bader, Benedikt; Mazzucco, Sara; Dotti, Maria Teresa; Siciliano, Angela; Pantaleo, Antonella und Laudanna, Carlo
(15. Februar 2012):
Computational identification of phospho-tyrosine sub-networks related to acanthocyte generation in neuroacanthocytosis.
In: PLOS ONE 7(2), e31015 [PDF, 919kB]
In: PLOS ONE 7(2), e31015 [PDF, 919kB]
2011
Jung, Hans H.; Danek, Adrian und Walker, Ruth H.
(25. Oktober 2011):
Neuroacanthocytosis Syndromes.
In: Orphanet Journal of Rare Diseases, Bd. 6, Nr. 68
[PDF, 594kB]
Riccioppo Rodrigues, Guilherme; Walker, Ruth H.; Bader, Benedikt; Danek, Adrian; Brice, Alexis; Cazeneuve, Cécile; Russaouen, Odile; Lopes-Cendes, Iscia; Marques, Wilson und Tumas, Vitor
(2011):
Clinical and genetic analysis of 29
Brazilian patients with Huntington’s
disease-like phenotype.
In: Arquivos de Neuro-Psiquiatria, Bd. 69, Nr. 3: S. 419-423
[PDF, 888kB]
2008
Danek, Adrian; Bader, Benedikt und Walker, Ruth H.
(2008):
Neuroacanthocytosis.
In: Clinics : publication of the Faculdade de Medicina, USP, Bd. 63, Nr. 1: S. 135
[PDF, 33kB]