Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Florian Harmuth"'
Autor:
Annika Thierfelder, Jens Seemann, Natalie John, Florian Harmuth, Martin Giese, Rebecca Schüle, Ludger Schöls, Dagmar Timmann, Matthis Synofzik, Winfried Ilg
Publikováno v:
Movement disorders 37(5), 1047-1058 (2022). doi:10.1002/mds.28930
Background Clinical and regulatory acceptance of upcoming molecular treatments in degenerative ataxias might greatly benefit from ecologically valid endpoints that capture change in ataxia severity in patients' real life. Objectives This longitudinal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60fe6f430e2261c6526707fea30049d6
Autor:
Alfredo Ramirez, Marcelo Miranda, Florian Harmuth, Malco Rossi, Olafur T. Magnusson, M. Leonor Bustamante, Thomas Klockgether, Marc Sturm, Peter Bauer
Publikováno v:
Parkinsonism & related disorders 81, 45-47 (2020). doi:10.1016/j.parkreldis.2020.10.004
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bf7a052eb648778541bcab2cf272f41
https://doi.org/10.1016/j.parkreldis.2020.10.004
https://doi.org/10.1016/j.parkreldis.2020.10.004
Autor:
Joohyun, Park, Annemarie, Reilaender, Jan N, Petry-Schmelzer, Petra, Stöbe, Isabell, Cordts, Florian, Harmuth, Maren, Rautenberg, Sarah E, Woerz, German, Demidov, Marc, Sturm, Stephan, Ossowski, Eva M C, Schwaibold, Gilbert, Wunderlich, Sebastian, Paus, Carsten, Saft, Tobias B, Haack
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
Background and Objectives Our objective was to improve rare variant interpretation using statistical measures as well as publicly accessible annotation of expression levels and tissue specificity of different splice isoforms. We describe rare VPS16 v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2521329a91612f81286e746555690743
https://pubmed.ncbi.nlm.nih.gov/34901436
https://pubmed.ncbi.nlm.nih.gov/34901436
Autor:
Joohyun Park, Maren Rautenberg, Olaf Riess, Florian Harmuth, Natalie Deininger, Carsten Saft, Marc Sturm, Ludger Schöls, Tobias B. Haack, Matthis Synofzik
Publikováno v:
Genetics in medicine 23(6), 1171-1172 (2021). doi:10.1038/s41436-021-01104-1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f812fa7947d3867e2fd268d4f8c8db97
Autor:
Thomas Klockgether, Wolfgang Nachbauer, Alexandra Durr, Holger Hengel, Alessandro Roca, Katrin Bürk-Gergs, Kathrin Reetz, Dagmar Timmann, Olaf Riess, Caterina Mariotti, Florian Harmuth, Sandro Romanzetti, Jörg B. Schulz, Marcella Masciullo, Carlo Casali, Lorenzo Nanetti, Alessandro Filla, Maria Rakowicz, Jun Suk Kang, Béla Melegh, Laszlo Baliko, Jon Infante, Grzegorz Makowicz, Ludger Schöls, Heike Jacobi, Marie Lorraine Monin, Sophie Tezenas du Montcel
Publikováno v:
The lancet / Neurology 19(9), 738-747 (2020). doi:10.1016/S1474-4422(20)30235-0
Summary Background Spinocerebellar ataxias (SCAs) are autosomal dominant neurodegenerative diseases. Our aim was to study the conversion to manifest ataxia among apparently healthy carriers of mutations associated with the most common SCAs (SCA1, SCA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e75b6d7f3365a7c46786ed5963148a06
http://hdl.handle.net/11573/1638827
http://hdl.handle.net/11573/1638827
Autor:
Joohyun Park, Annemarie Reilaender, Jan N. Petry-Schmelzer, Petra Stöbe, Isabell Cordts, Florian Harmuth, Maren Rautenberg, Sarah E. Woerz, German Demidov, Marc Sturm, Stephan Ossowski, Eva M.C. Schwaibold, Gilbert Wunderlich, Sebastian Paus, Carsten Saft, Tobias B. Haack
Publikováno v:
Neurology Genetics. 8:e644
Background and ObjectivesOur objective was to improve rare variant interpretation using statistical measures as well as publicly accessible annotation of expression levels and tissue specificity of different splice isoforms. We describe rare VPS16 va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::95ba551e61a719ee86ea3738ba588037
https://doi.org/10.1212/nxg.0000000000000644
https://doi.org/10.1212/nxg.0000000000000644
Autor:
Victoria, Tüngler, Marion, Doebler-Neumann, Michaela, Salandin, Peter, Kaufmann, Christine, Wolf, Nadja, Lucas, Florian, Harmuth, Jennifer, Reichbauer, Ingeborg, Krägeloh-Mann, Rebecca, Schüle, Min Ae, Lee-Kirsch
Publikováno v:
Neurology: Genetics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::96fe55fc40c22e02e63b22243e8f2d22
https://pubmed.ncbi.nlm.nih.gov/32042913
https://pubmed.ncbi.nlm.nih.gov/32042913
Publikováno v:
Neurology Genetics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=r3c4b2081b22::4f1c85570d3dd486d7317bafad3cf3eb
Autor:
Dagmar Timmann, Peter Bauer, Cornelia Schatton, Zofia Fleszar, Ludger Schöls, Holger Hengel, Florian Harmuth, Martin A. Giese, Matthis Synofzik, Winfried Ilg
Publikováno v:
Movement Disorders. 31:1891-1900
Background Movement changes in autosomal-dominant spinocerebellar ataxias are suggested to occur many years before clinical manifestation. Detecting and quantifying these changes in the preclinical phase offers a window for future treatment intervent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dcb77ff38a39e688f0ebd5abc42ef126
https://doi.org/10.1002/mds.26835
https://doi.org/10.1002/mds.26835
Autor:
Peter Bauer, Jonathan Baets, G. Bradley Schaefer, Wenting Guo, Tine Deconinck, Bo Sun, Katherine L. Helbig, Sha Tang, Pranoot Tanpaiboon, Erika Palmaer, Peter De Jonghe, Florian Harmuth, Ingeborg Krägeloh-Mann, Matthis Synofzik, Rebecca Schüle, Ruiwu Wang, S. R. Wayne Chen, Ludger Schöls, Stephan Züchner, Janina Gburek-Augustat
Publikováno v:
European journal of human genetics
European Journal of Human Genetics
European journal of human genetics 26(11), 1623-1634 (2018). doi:10.1038/s41431-018-0206-3
European Journal of Human Genetics
European journal of human genetics 26(11), 1623-1634 (2018). doi:10.1038/s41431-018-0206-3
We explored the clinico-genetic basis of spinocerebellar ataxia 29 (SCA29) by determining the frequency, phenotype, and functional impact of ITPR1 missense variants associated with early-onset ataxia (EOA). Three hundred thirty one patients from a Eu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::771fbcbe7bd22e9e425d974c0af8c97d
https://hdl.handle.net/10067/1547070151162165141
https://hdl.handle.net/10067/1547070151162165141