Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Anne‐Sophie Grosch"'
Autor:
Tanja Schmitz‐Hübsch, Silke Lux, Peter Bauer, Alexander U. Brandt, Elena Schlapakow, Susanne Greschus, Michael Scheel, Hanna Gärtner, Mehmet E. Kirlangic, Vincent Gras, Dagmar Timmann, Matthis Synofzik, Alejandro Giorgetti, Paolo Carloni, Jon N. Shah, Ludger Schöls, Ute Kopp, Lisa Bußenius, Timm Oberwahrenbrock, Hanna Zimmermann, Caspar Pfueller, Ella‐Maria Kadas, Maria Rönnefarth, Anne‐Sophie Grosch, Matthias Endres, Katrin Amunts, Friedemann Paul, Sarah Doss, Martina Minnerop
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 4, Pp 774-789 (2021)
Abstract Objectives Genetic variant classification is a challenge in rare adult‐onset disorders as in SCA‐PRKCG (prior spinocerebellar ataxia type 14) with mostly private conventional mutations and nonspecific phenotype. We here propose a refined
Externí odkaz:
https://doaj.org/article/01bebd976eac43a5bb41b90154ae31c0
Autor:
M. Rönnefarth, Michael Scheel, Tanja Schmitz-Hübsch, Jan Leo Rinnenthal, Martina Minnerop, Silke Lux, S. Doss, Anne Sophie Grosch, Alexander U. Brandt, Matthias Endres, Friedemann Paul
Publikováno v:
Cerebellum (London, England)
The Cerebellum 20, 169–178 (2021). doi:10.1007/s12311-020-01201-y
The Cerebellum 20(2), 169-178 (2021). doi:10.1007/s12311-020-01201-y
The Cerebellum 20, 169–178 (2021). doi:10.1007/s12311-020-01201-y
The Cerebellum 20(2), 169-178 (2021). doi:10.1007/s12311-020-01201-y
Autosomal-dominant spinocerebellar ataxias (SCA) are neurodegenerative diseases characterized by progressive ataxia. Here, we report on neurometabolic alterations in spinocerebellar ataxia type 1 (SCA1; SCA-ATXN1) and 14 (SCA14; SCA-PRKCG) assessed b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c54cbc171c194281ae79a77e4daa166d
http://europepmc.org/articles/PMC8004522
http://europepmc.org/articles/PMC8004522
Autor:
Anne Sophie Grosch, Anna Kufner, Florent Boutitie, Bastian Cheng, Martin Ebinger, Matthias Endres, Jochen B. Fiebach, Jens Fiehler, Alina Königsberg, Robin Lemmens, Keith W. Muir, Norbert Nighoghossian, Salvador Pedraza, Claus Z. Siemonsen, Vincent Thijs, Anke Wouters, Christian Gerloff, Götz Thomalla, Ivana Galinovic
Publikováno v:
Frontiers in Neurology, Vol 11 (2021)
Background and Aims: Fluid-attenuated inversion recovery (FLAIR) hyperintense vessels (FHVs) on MRI are a radiological marker of vessel occlusion and indirect sign of collateral circulation. However, the clinical relevance is uncertain. We explored w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::c59abfcfb104c366b613c1fc57dd7511
https://www.frontiersin.org/articles/10.3389/fneur.2020.623881/full
https://www.frontiersin.org/articles/10.3389/fneur.2020.623881/full
Publikováno v:
Acta Neurochirurgica
Background Increasing technico-manual complexity of procedures and time constraints necessitates effective neurosurgical training. For this purpose, both screen- and model-based simulations are under investigation. Approaches including 3D printed bra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac37e4612f123db41699e0d76da159e1
Autor:
M. Rönnefarth, Anne Sophie Grosch, Friedemann Paul, Seyedamirhosein Motamedi, Joseph Kuchling, Charlotte Bereuter, Sarah Doss, Andrew W. Browne, Hanna Zimmermann, Tanja Schmitz-Hübsch, Oliver Zeitz, Alexander U. Brandt, Frederike C. Oertel
Publikováno v:
Movement Disorders Clinical Practice
Background Spinocerebellar ataxia type 1 (SCA‐ATXN1) is an inherited progressive ataxia disorder characterized by an adult‐onset cerebellar syndrome combined with nonataxia signs. Retinal or optic nerve affection are not systematically described.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56fbd8dc74b08e9ba71454d53c08b789
https://pubmed.ncbi.nlm.nih.gov/32626794
https://pubmed.ncbi.nlm.nih.gov/32626794