Zobrazeno 1 - 10
of 129
pro vyhledávání: '"Benedikt Bader"'
Autor:
Derek Spieler, Antonio Velayos‐Baeza, Alžbeta Mühlbäck, Florian Castrop, Christian Maegerlein, Julia Slotta‐Huspenina, Benedikt Bader, Bernhard Haslinger, Adrian Danek
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Abstract Background Chorea‐acanthocytosis (ChAc; OMIM #200150) is a rare autosomal recessive condition with onset in early adulthood that is caused by mutations in the vacuolar protein sorting 13A (VPS13A) gene encoding chorein. Several diagnostic
Externí odkaz:
https://doaj.org/article/87d6d31fc1f649f3ae452680d792cfdc
Autor:
Guilherme Riccioppo Rodrigues, Ruth H. Walker, Benedikt Bader, Adrian Danek, Alexis Brice, Cécile Cazeneuve, Odile Russaouen, Iscia Lopes-Cendes, Wilson Marques Jr., Vitor Tumas
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 69, Iss 3, Pp 419-423 (2011)
Huntington's disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typic
Externí odkaz:
https://doaj.org/article/e53ede2eaeef42018ebb0d9107df1c14
Publikováno v:
Tremor and Other Hyperkinetic Movements, Vol 4 (2014)
Background: Neuroacanthocytosis (NA) syndromes are a group of rare diseases characterized by the presence of acanthocytes and neuronal multisystem pathology, including chorea-acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington's disease-like 2 (
Externí odkaz:
https://doaj.org/article/63965d9f745749859250c14490d547f6
Autor:
Georg Sebastian Nübling, Johannes Levin, Benedikt Bader, Stefan Lorenzl, Andreas Hillmer, Tobias Högen, Frits Kamp, Armin Giese
Publikováno v:
PLoS ONE, Vol 9, Iss 6, p e98906 (2014)
BACKGROUND: In several neurodegenerative diseases, hyperphosphorylation at position Ser129 is found in fibrillar deposits of alpha-synuclein (asyn), implying a pathophysiological role of asyn phosphorylation in neurodegeneration. However, recent anim
Externí odkaz:
https://doaj.org/article/55608c07c78a44c49f2eb7df00257af8
Autor:
Claudia Siegl, Patricia Hamminger, Herbert Jank, Uwe Ahting, Benedikt Bader, Adrian Danek, Allison Gregory, Monika Hartig, Susan Hayflick, Andreas Hermann, Holger Prokisch, Esther M Sammler, Zuhal Yapici, Rainer Prohaska, Ulrich Salzer
Publikováno v:
PLoS ONE, Vol 8, Iss 10, p e76715 (2013)
Neuroacanthocytosis (NA) refers to a group of heterogenous, rare genetic disorders, namely chorea acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington's disease-like 2 (HDL2) and pantothenate kinase associated neurodegeneration (PKAN), that mainl
Externí odkaz:
https://doaj.org/article/6943ff913f5e491d87cd38f275fec614
Autor:
Claudia Siegl, Patricia Hamminger, Herbert Jank, Uwe Ahting, Benedikt Bader, Adrian Danek, Allison Gregory, Monika Hartig, Susan Hayflick, Andreas Hermann, Holger Prokisch, Esther M. Sammler, Zuhal Yapici, Rainer Prohaska, Ulrich Salzer
Publikováno v:
PLoS ONE, Vol 8, Iss 10 (2013)
Externí odkaz:
https://doaj.org/article/75cb8417cb5f40ecba71472009a5c182
Autor:
Marie Miquel, Umberto Spampinato, Chrystelle Latxague, Iciar Aviles-Olmos, Benedikt Bader, Kelly Bertram, Kailash Bhatia, Pierre Burbaud, Lothar Burghaus, Jin Whan Cho, Emmanuel Cuny, Adrian Danek, Thomas Foltynie, Pedro J Garcia Ruiz, Santiago Giménez-Roldán, Dominique Guehl, Jorge Guridi, Marwan Hariz, Paul Jarman, Zinovia Maria Kefalopoulou, Patricia Limousin, Nir Lipsman, Andres M Lozano, Elena Moro, Dhita Ngy, Maria Cruz Rodriguez-Oroz, Huifang Shang, Hyeeun Shin, Ruth H Walker, Fusako Yokochi, Ludvic Zrinzo, François Tison
Publikováno v:
PLoS ONE, Vol 8, Iss 11, p e79241 (2013)
Chorea-acanthocytosis (ChAc) is a neuroacanthocytosis syndrome presenting with severe movement disorders poorly responsive to drug therapy. Case reports suggest that bilateral deep brain stimulation (DBS) of the ventro-postero-lateral internal globus
Externí odkaz:
https://doaj.org/article/b3639619425f4447b2a4b9f8a1167f32
Autor:
Lucia De Franceschi, Giovanni Scardoni, Carlo Tomelleri, Adrian Danek, Ruth H Walker, Hans H Jung, Benedikt Bader, Sara Mazzucco, Maria Teresa Dotti, Angela Siciliano, Antonella Pantaleo, Carlo Laudanna
Publikováno v:
PLoS ONE, Vol 7, Iss 2, p e31015 (2012)
Acanthocytes, abnormal thorny red blood cells (RBC), are one of the biological hallmarks of neuroacanthocytosis syndromes (NA), a group of rare hereditary neurodegenerative disorders. Since RBCs are easily accessible, the study of acanthocytes in NA
Externí odkaz:
https://doaj.org/article/5d1b43fd334c44d0893cd668dec8f24f
Autor:
Adrian Danek, Jia Liu, Benedikt Bader, Udo Rüb, C. A. Pasqualucci, Maren C. Kiessling, Kay Seidel, Christoph Schmitz, W. F. A. den Dunnen, Lea T. Grinberg, Thomas Arzberger, Edson Amaro, Helmut Heinsen, Eduardo Joaquim Lopez Alho
Publikováno v:
Neuropathology and Applied Neurobiology. 45:230-243
AIMS: Quantitative estimation of cortical neurone loss in cases with chorea-acanthocytosis and its impact on laminar composition METHODS: We used unbiased stereological tools to estimate the degree of cortical pathology in serial gallocyanin-stained
Publikováno v:
WASSERWIRTSCHAFT. 106:49-54