Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Sylvia Bösch"'
Publikováno v:
BioTechniques, Vol 45, Iss 5, Pp 577-580 (2008)
In this study we present a quick and easy method for counting trinucleotide repeats by de-oxyadenosine overhang (A-overhang)–dependent repeat expansion determination (ADRED). During standard Taq DNA polymerase–based sequencing reactions, the unte
Externí odkaz:
https://doaj.org/article/4eae3d5426b9476aa64e391e6016e76c
Autor:
Christine Eckhardt, Florian Krismer, Eveline Donnemiller, Sabine Eschlböck, Alessandra Fanciulli, Cecilia Raccagni, Sylvia Bösch, Katherina Mair, Christoph Scherfler, Atbin Djamshidian, Christian Uprimny, Bernhard Metzler, Klaus Seppi, Werner Poewe, Stefan Kiechl, Irene Virgolini, Gregor K. Wenning
Publikováno v:
Clinical autonomic research : official journal of the Clinical Autonomic Research Society. 32(2)
Purpose The aims of this study were to evaluate the diagnostic accuracy of the dual imaging method combining cardiac iodine-123-metaiodobenzylguanidine single-photon emission computed tomography combined with low-dose chest computed tomography compar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b80cd68c103d3780dd67f2046e830285
https://pubmed.ncbi.nlm.nih.gov/35201527
https://pubmed.ncbi.nlm.nih.gov/35201527
Autor:
Sylvia Bösch, Elisabetta Indelicato
Publikováno v:
Expert Opinion on Orphan Drugs. 6:57-67
Introduction: Friedreich ataxia (FRDA) is an autosomal recessive disorder which manifests with progressive instability, leading ultimately to loss of independent gait, dysarthria, skeletal abnormal...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::90fc4ca86d0a3b5ea3429ae36fc54130
https://doi.org/10.1080/21678707.2018.1409109
https://doi.org/10.1080/21678707.2018.1409109
Autor:
Wolfgang Nachbauer, Ilaria Giordano, Ingrid Berger, Jens Claassen, Christine Adrion, Ivonne Naumann, Otmar Bayer, Thomas Klopstock, Ulrich Mansmann, Bart P.C. van de Warrenburg, Thomas Klockgether, Claudia Stendel, Katharina Feil, Heike Jacobi, Julian Teufel, Michael Strupp, Sylvia Bösch, Hans-Helge Müller, Ludger Schöls, Holger Hengel, Ellen Uslar
Publikováno v:
BMC Neurology
BMC Neurology, 17, 7
BMC neurology 17(1), 7 (2017). doi:10.1186/s12883-016-0786-x
BMC Neurology, 17, 1, pp. 7
BMC Neurology, 17, 7
BMC neurology 17(1), 7 (2017). doi:10.1186/s12883-016-0786-x
BMC Neurology, 17, 1, pp. 7
Cerebellar ataxia (CA) is a frequent and often disabling condition that impairs motor functioning and impacts on quality of life (QoL). No medication has yet been proven effective for the symptomatic or even causative treatment of hereditary or non-h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::353436a27b7732aec3d7b06a70edd90b
https://pubmed.ncbi.nlm.nih.gov/28068987
https://pubmed.ncbi.nlm.nih.gov/28068987
Publikováno v:
Cognitive and Behavioral Neurology. 23:106-111
To describe the cognitive functions, mood, and quality of life in a family with genetically proved familial hemiplegic migraine (FHM), carrying a missense mutation on chromosome 19 (T666M), corresponding to the most frequent FHM subtype.FHM is an aut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b11abfdc81abba9e1894c3b7e322be4
https://doi.org/10.1097/wnn.0b013e3181c3a8a6
https://doi.org/10.1097/wnn.0b013e3181c3a8a6
Voxel-based morphometry detects cortical atrophy in the Parkinson variant of multiple system atrophy
Autor:
Klaus Seppi, Christian Büchel, Jörg Müller, Gregor K. Wenning, Sylvia Bösch, E. Luginger, Wolfgang Löscher, Christian Brenneis, Werner Poewe, Michael Schocke
Publikováno v:
Movement Disorders. 18:1132-1138
To determine magnetic resonance imaging (MRI) patterns of brain atrophy in parkinsonian syndromes, we applied voxel-based morphometry (VBM) to segmented gray matter, white matter, and cerebrospinal fluid compartments of T(1)-weighted brain volumes of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cbb9a1af51d1dad47c8163c9209645fe
https://doi.org/10.1002/mds.10502
https://doi.org/10.1002/mds.10502
Autor:
Josep Valls-Solé, Jörg Müller, Werner Poewe, Gregor K. Wenning, Sylvia Bösch, Gerhard Ransmayr, Markus Kofler, Pia Hollosi, Laura Reggiani
Publikováno v:
Movement Disorders. 16:62-71
The auditory startle reaction to an unexpected loud stimulus is regarded as a brainstem reflex originating in the nucleus reticularis pontis caudalis and being distributed up the brainstem and down the spinal cord along slowly conducting pathways. Au
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fb6ffd443c7e859f9aca0cd720d3902
https://doi.org/10.1002/1531-8257(200101)16:1<62::aid-mds1002>3.0.co
https://doi.org/10.1002/1531-8257(200101)16:1<62::aid-mds1002>3.0.co
Publikováno v:
Movement Disorders. 15:873-878
L-Dopa-induced dyskinesias constitute a challenge to the management of advanced Parkinson's disease. According to recent reports, treatment with the NMDA receptor antagonist amantadine may significantly diminish L-dopa-induced dyskinesias. In the pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9e8f1fb2d926eb7d05f1d8cb0f9007a9
https://doi.org/10.1002/1531-8257(200009)15:5<873::aid-mds1017>3.0.co
https://doi.org/10.1002/1531-8257(200009)15:5<873::aid-mds1017>3.0.co
Autor:
Gregor K. Wenning, Marc Verny, Kallol Ray Chaudhuri, Werner Poewe, Irene Litvan, Roberta Granata, Kurt A. Jellinger, Sylvia Bösch, Christoph Scherfler
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 67:620-623
OBJECTIVE—Although both orthostatic hypotension and urinary incontinence have been reported in a number of parkinsonian syndromes, such as Parkinson's disease (PD), multiple system atrophy (MSA), dementia with Lewy bodies (DLB), corticobasal degene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e7ae19a2da7e24869b3957d7639113c8
https://doi.org/10.1136/jnnp.67.5.620
https://doi.org/10.1136/jnnp.67.5.620
Autor:
Daniela Karall, David Nachbaur, Johannes A. Mayr, Melanie Schranz, Heinz Zoller, Christian Ensinger, Sylvia Bösch, Sabine Scholl Bürgi, Andreas R. Janecke, Armin Finkenstedt, Wolfgang Vogel, Mathias Drach
Publikováno v:
JIMD Reports ISBN: 9783642373336
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive mitochondriopathy caused by loss-of-function mutations in the thymidine phosphorylase gene. The disease leads to premature death and is characterized by gastrointest
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dd093d531fd4235454646b7e4fec172
https://doi.org/10.1007/8904_2012_199
https://doi.org/10.1007/8904_2012_199
