Zobrazeno 1 - 8
of 8
pro vyhledávání: '"physiopathology [Friedreich Ataxia]"'
Autor:
Matthis Synofzik, Claire Didszun, Imis Dogan, Robin Schubert, Jörg B. Schulz, Thomas Klockgether, Kathrin Reetz, Ludger Schöls, Ralf Reilmann, Christian Hohenfeld, Ilaria Giordano
Publikováno v:
The Cerebellum 18(5), 896-909 (2019). doi:10.1007/s12311-019-01073-x
Friedreich's ataxia (FRDA) is a rare autosomal-recessive slowly progressive neurodegenerative disorder. As common clinical measures for this devastating disease lack sensitivity, we explored whether (a) the quantitative motor assessments of the Q-Mot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afba26d581f9c10e3ac8d7db5961e836
https://doi.org/10.1007/s12311-019-01073-x
https://doi.org/10.1007/s12311-019-01073-x
Autor:
Thomas Klopstock, M. Fichera, Francisco Javier Rodríguez de Rivera Garrido, Caterina Mariotti, Almut Turid Bischoff, Claudia Stendel, Christian Hohenfeld, Alexandra Durr, Anna Castaldo, Ilaria Giordano, Stefanie N. Hayer, Alessia Mongelli, Marie Lorraine Monin, Massimo Pandolfo, Kathrin Reetz, Katarina Manso, Gessica Vasco, Mar O'Callaghan, Nita Solanky, Matthias Amprosi, Claire Ewenczyk, Florian Holtbernd, Wolfgang Nachbauer, Sylvia Boesch, Enrico Bertini, Francesc Palau, Cinzia Gellera, Elisabetta Indelicato, Florentine Radelfahr, Imis Dogan, Marianthi Breza, Ludger Schöls, Christian Rummey, Michael H Parkinson, Andreas Eigentler, Jörg B. Schulz, Lorenzo Nanetti, Claire Didszun, Paola Giunti, Gilbert Thomas-Black, Nikolina Brcina, Marie Biet, Ralf-Dieter Hilgers, Robyn Labrum, Thomas Klockgether, Myriam Rai, Georgios Koutsis
Publikováno v:
The lancet / Neurology 20(5), 362-372 (2021). doi:10.1016/S1474-4422(21)00027-2
Summary Background The European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) investigates the natural history of Friedreich's ataxia. We aimed to assess progression characteristics and to identify patient groups with differential
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e639b3686431e2707c99907b08121ea
Autor:
Reetz, Kathrin, Dogan, Imis, Schöls, Ludger, Giordano, Ilaria, Bürk, Katrin, Pandolfo, Massimo, Schulz, Jörg B, Group, EFACTS Study, Nachbauer, Wolfgang, Eigentler, Andreas, Depondt, Chantal, Benaich, Sandra, Hohenfeld, Christian, Charles, Perrine, Ewenczyk, Claire, Monin, Marie-Lorraine, Fedosov, Kathrin, Dafotakis, Manuel, Timmann, Dagmar, Karin, Ivan, Sarro, Lidia, Nanetti, Lorenzo, Castaldo, Anna, Didszun, Claire, Arpa, Javier, Sanz-Gallego, Irene, Parkinson, Michael H, Sweeney, Mary G, Giunti, Paola, Mariotti, Caterina, Durr, Alexandra, Boesch, Sylvia, Klopstock, Thomas, Rodríguez de Rivera Garrido, Francisco Javier
Publikováno v:
Neurology, 91 (10
Neurology 91(10), e917-e930 (2018). doi:10.1212/WNL.0000000000006121
Neurology 91(10), e917-e930 (2018). doi:10.1212/WNL.0000000000006121
OBJECTIVE: To provide a systematic evaluation of the broad clinical variability in Friedreich ataxia (FRDA), a multisystem disorder presenting mainly with afferent ataxia but also a complex phenotype of nonataxia symptoms. METHODS: From the large dat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b2f8f405960ab2782db96892a5398d3
https://doi.org/10.1212/wnl.0000000000006121
https://doi.org/10.1212/wnl.0000000000006121
Autor:
Massimo Pandolfo, Javier Arpa, Ivan Karin, Andreas Eigentler, Anna Castaldo, Sophie Tezenas du Montcel, Paola Giunti, Michael H Parkinson, Irene Sanz-Gallego, Marta Panzeri, Jennifer Müller vom Hagen, L. Schoels, Audrey Tanguy Melac, Jörg B. Schulz, Lorenzo Nanetti, Thomas Klopstock, Caterina Mariotti, Sylvia Boesch, Alexandra Durr, Antoine Filipovic Pierucci, Thomas Klockgether, Kathrin Reetz, Ilaria Giordano, Chantal Depondt, Katrin Bürk, Wolfgang Nachbauer
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry 89(6), 559-565 (2018). doi:10.1136/jnnp-2017-316964
Journal of neurology, neurosurgery, and psychiatry 89(6), 559-565 (2017). doi:10.1136/jnnp-2017-316964
Journal of Neurology, Neurosurgery and Psychiatry
Journal of Neurology, Neurosurgery and Psychiatry, 2018, 89 (6), pp.559-565. ⟨10.1136/jnnp-2017-316964⟩
Journal of neurology, neurosurgery, and psychiatry 89(6), 559-565 (2017). doi:10.1136/jnnp-2017-316964
Journal of Neurology, Neurosurgery and Psychiatry
Journal of Neurology, Neurosurgery and Psychiatry, 2018, 89 (6), pp.559-565. ⟨10.1136/jnnp-2017-316964⟩
BackgroundSensitive outcome measures for clinical trials on cerebellar ataxias are lacking. Most cerebellar ataxias progress very slowly and quantitative measurements are required to evaluate cerebellar dysfunction.MethodsWe evaluated two scales for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f83aa958b0096bec2cc5837bc0b48bb1
https://pubmed.ncbi.nlm.nih.gov/29279305
https://pubmed.ncbi.nlm.nih.gov/29279305
Autor:
Martin B. Delatycki, Mayumi I. Wardrop, Matthis Synofzik, Shaheen N. Awan, Louise A. Corben, Joanne E Folker, Adam P. Vogel
Publikováno v:
Journal of voice 31(2), 243.e9-243.e19 (2017). doi:10.1016/j.jvoice.2016.04.015
Summary Background Friedreich Ataxia (FRDA) is the most common hereditary ataxia, with dysarthria as one of its key clinical signs. Objective To describe the voice profile of individuals with FRDA to inform outcome marker development and goals of spe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7aacea32d2db2db601b527dedfcb836
https://pubmed.ncbi.nlm.nih.gov/27501923
https://pubmed.ncbi.nlm.nih.gov/27501923
Autor:
Imis Dogan, Chantal Depondt, Manuel Dafotakis, Sandra Benaich, Ralf-Dieter Hilgers, Paola Giunti, Dagmar Timmann, Perrine Charles, Jörg B. Schulz, Lorenzo Nanetti, Katrin Bürk, Claire Didszun, Claire Ewenczyk, Ummehan Ermis, Marta Panzeri, Myriam Rai, Ludger Schöls, Michael H Parkinson, Wolfgang Nachbauer, Massimo Pandolfo, Kathrin Reetz, Caterina Mariotti, Ilaria Giordano, Claudia Stendel, Sylvia Boesch, Marie-Lorraine Monin, Thomas Klockgether, Ivan Karin, Kathrin Fedosov, Javier Arpa, Andreas Eigentler, Irene Sanz-Gallego, Mary G. Sweeney, Christiane Neuhofer, Anna Castaldo, Jennifer Müller vom Hagen, Francisco Javier Rodriguez de Rivera, Julia Wolf, Thomas Klopstock, Alexandra Durr
Publikováno v:
The lancet / Neurology 15(13), 1346-1354 (2016). doi:10.1016/S1474-4422(16)30287-3
The lancet / Neurology Neurology 15(13), 1346-1354 (2016). doi:10.1016/S1474-4422(16)30287-3
The lancet
Summary Background The European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) is a prospective international registry investigating the natural history of Friedreich's ataxia. We used data from EFACTS to assess disease progression
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2815590671fafeddeba2f5c49a05e8ea
Comparing speech characteristics in spinocerebellar ataxias type 3 and type 6 with Friedreich ataxia
Autor:
Matthis Synofzik, Ludger Schöls, Tobias Lindig, Bettina Brendel, Theresa Schölderle, Hermann Ackermann, Wolfram Ziegler
Publikováno v:
Journal of neurology 262(1), 21-26 (2014). doi:10.1007/s00415-014-7511-8
Patterns of dysarthria in spinocerebellar ataxias (SCAs) and their discriminative features still remain elusive. Here we aimed to compare dysarthria profiles of patients with (SCA3 and SCA6 vs. Friedreich ataxia (FRDA), focussing on three particularl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f916cdf57df0c3c9a64ff821fa6b1dbe
https://pubmed.ncbi.nlm.nih.gov/25267338
https://pubmed.ncbi.nlm.nih.gov/25267338
Autor:
Ludger Schöls, Wolfgang E. Schmidt, Oliver Goetze, Carsten Saft, Sven H. Stüwe, Matthias Banasch, Larissa Arning
Publikováno v:
BMC Neurology
BMC neurology 11(1), 145 (2011). doi:10.1186/1471-2377-11-145
BMC Neurology, Vol 11, Iss 1, p 145 (2011)
BMC neurology 11(1), 145 (2011). doi:10.1186/1471-2377-11-145
BMC Neurology, Vol 11, Iss 1, p 145 (2011)
Background Mitochondrial dysfunction due to respiratory chain impairment is a key feature in pathogenesis of Friedreich ataxia. Friedreich ataxia affects the nervous system, heart and pancreas. Methods We assessed hepatic mitochondrial function by 13
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1d2b67bcb1fbaac32510c3d6d69abc9