Zobrazeno 1 - 10
of 10
pro vyhledávání: '"diagnosis [Friedreich Ataxia]"'
Autor:
Christian Hohenfeld, Ulrich Terstiege, Imis Dogan, Paola Giunti, Michael H. Parkinson, Caterina Mariotti, Lorenzo Nanetti, Mario Fichera, Alexandra Durr, Claire Ewenczyk, Sylvia Boesch, Wolfgang Nachbauer, Thomas Klopstock, Claudia Stendel, Francisco Javier Rodríguez de Rivera Garrido, Ludger Schöls, Stefanie N. Hayer, Thomas Klockgether, Ilaria Giordano, Claire Didszun, Myriam Rai, Massimo Pandolfo, Holger Rauhut, Jörg B. Schulz, Kathrin Reetz
Publikováno v:
Scientific reports 12(1), 19173 (2022). doi:10.1038/s41598-022-23666-z
Scientific reports 12, 19173 (2022). doi:10.1038/s41598-022-23666-z
Scientific reports 12, 19173 (2022). doi:10.1038/s41598-022-23666-z
Scientific reports 12, 19173 (2022). doi:10.1038/s41598-022-23666-z
Published by Macmillan Publishers Limited, part of Springer Nature, [London]
Published by Macmillan Publishers Limited, part of Springer Nature, [London]
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fef9ba95c6aba5b45e2885b57fe1c05
https://pubmed.ncbi.nlm.nih.gov/36357508
https://pubmed.ncbi.nlm.nih.gov/36357508
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:
Wolfgang Nachbauer, Thomas Klopstock, Caterina Mariotti, Ludger Schöls, Alexandra Durr, Jörg B. Schulz, Massimo Pandolfo, Matthias Amprosi, Javier Arpa, Andreas Eigentler, Ilaria Giordano, Sylvia Boesch, Katrin Bürk, Elisabetta Indelicato, Raffaella Matteucci Gothe, Paola Giunti, Claire Didszdun
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2020, 15 (1), ⟨10.1186/s13023-020-01475-9⟩
Orphanet journal of rare diseases, 15 (1
Orphanet journal of rare diseases 15(1), 198 (2020). doi:10.1186/s13023-020-01475-9
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-8 (2020)
Orphanet Journal of Rare Diseases, 2020, 15 (1), ⟨10.1186/s13023-020-01475-9⟩
Orphanet Journal of Rare Diseases, BioMed Central, 2020, 15 (1), ⟨10.1186/s13023-020-01475-9⟩
Orphanet journal of rare diseases, 15 (1
Orphanet journal of rare diseases 15(1), 198 (2020). doi:10.1186/s13023-020-01475-9
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-8 (2020)
Orphanet Journal of Rare Diseases, 2020, 15 (1), ⟨10.1186/s13023-020-01475-9⟩
Background: In rare disorders diagnosis may be delayed due to limited awareness and unspecific presenting symptoms. Herein, we address the issue of diagnostic delay in Friedreich's Ataxia (FRDA), a genetic disorder usually caused by homozygous GAA-re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a541365999a472ef3ae39fd5fb0d406e
https://doi.org/10.21203/rs.3.rs-18562/v1
https://doi.org/10.21203/rs.3.rs-18562/v1
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:
Kathrin Reetz, Wolfgang Nachbauer, Ana Sofia Costa, Thomas Klopstock, Marta Panzeri, Alexandra Durr, Michael H Parkinson, Katrin Bürk, Javier Arpa, Jörg B. Schulz, Lorenzo Nanetti, Kathrin Fedosov, Manuel Dafotakis, Chantal Depondt, Imis Dogan, Thomas Klockgether, Massimo Pandolfo, Sylvia Boesch, Perrine Charles, Ilaria Giordano, Ludger Schöls, Jennifer Müller vom Hagen, Ivan Karin, Paola Giunti, Mary G. Sweeney, Irene Sanz-Gallego, Caterina Mariotti
Publikováno v:
The lancet / Neurology 14(2), 174-182 (2015). doi:10.1016/S1474-4422(14)70321-7
Summary Background Friedreich's ataxia is a rare autosomal recessive neurodegenerative disorder. Here we report cross-sectional baseline data to establish the biological and clinical characteristics for a prospective, international, European Friedrei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ef77d56307a492212ba576c4562fbdb
https://doi.org/10.1016/s1474-4422(14)70321-7
https://doi.org/10.1016/s1474-4422(14)70321-7
Publikováno v:
Der Nervenarzt 88(7), 736-743 (2017). doi:10.1007/s00115-017-0350-y
Myopathies and mitochondrial diseases pose a major challenge in diagnosis due to the multitude of different entities and - in the case of mitochondriopathies - the possible involvement of multiple organs. Furthermore, there is broad clinical variabil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::db553d9763b364dab37374316a00246c
https://pubmed.ncbi.nlm.nih.gov/28573363
https://pubmed.ncbi.nlm.nih.gov/28573363
Autor:
Mark E. Ladd, A. Beck, Dagmar Timmann, Elke R. Gizewski, Klaus Solbach, Ludger Schöls, M Minnerop, Oliver Kraff
Publikováno v:
NeuroImage: Clinical, Vol 6, Iss C, Pp 93-99 (2014)
NeuroImage: Clinical 6, 93-99 (2014). doi:10.1016/j.nicl.2014.08.018
NeuroImage : Clinical
NeuroImage: Clinical 6, 93-99 (2014). doi:10.1016/j.nicl.2014.08.018
NeuroImage : Clinical
Background In Friedreich's ataxia (FA) the genetically decreased expression of the mitochondrial protein frataxin leads to disturbance of the mitochondrial iron metabolism. Within the cerebellum the dentate nuclei (DN) are primarily affected. Histopa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::743296e9af2af1a953b63c33cc7026b9
http://www.sciencedirect.com/science/article/pii/S2213158214001272
http://www.sciencedirect.com/science/article/pii/S2213158214001272
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
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