Zobrazeno 1 - 10
of 13
pro vyhledávání: '"genetics [Friedreich Ataxia]"'
Autor:
Thomas Klockgether
Publikováno v:
Fortschritte der Neurologie, Psychiatrie 91(4), 147-152 (2023). doi:10.1055/a-2015-3305
ZusammenfassungAtaxien sind progredient verlaufende Krankheiten, die meist Folge einer Degeneration des Kleinhirns sind. Ataxien werden in genetische, sporadisch degenerative und erworbene (sekundäre) Formen unterteilt. Während es bei den erworbene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee9720c10b57bbdcdda7b8a2c2b64553
https://doi.org/10.1055/a-2015-3305
https://doi.org/10.1055/a-2015-3305
Autor:
Bonnet, Céline, Pellerin, David, Weber, Frédéric, Girardier, Florent, Robin, Clément, Cacciatore, Stéphanie, Bronner, Myriam, Pourié, Carine, Dreumont, Natacha, Puisieux, Salomé, Iruzubieta, Pablo, Dicaire, Marie-Josée, Roth, Virginie, Evoy, François, Rioux, Marie-France, Hocquel, Armand, La Piana, Roberta, Synofzik, Matthis, Houlden, Henry, Danzi, Matt C, Zuchner, Stephan, Brais, Bernard, Renaud, Mathilde, Clément, Guillemette, Wandzel, Marion, Lambert, Laëtitia, Frismand, Solène, Douarinou, Marian, Grosset, Anais, Bekkour, Ines
Publikováno v:
Scientific reports 13(1), 9737 (2023). doi:10.1038/s41598-023-36654-8
Dominantly inherited GAA repeat expansions in FGF14 are a common cause of spinocerebellar ataxia (GAA-FGF14 ataxia; spinocerebellar ataxia 27B). Molecular confirmation of FGF14 GAA repeat expansions has thus far mostly relied on long-read sequencing,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_____10678::46171df09a8fd3e0b267941171c51f78
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:
David Pellerin, Matt C. Danzi, Carlo Wilke, Mathilde Renaud, Sarah Fazal, Marie-Josée Dicaire, Carolin K. Scriba, Catherine Ashton, Christopher Yanick, Danique Beijer, Adriana Rebelo, Clarissa Rocca, Zane Jaunmuktane, Joshua A. Sonnen, Roxanne Larivière, David Genís, Laura Molina Porcel, Karine Choquet, Rawan Sakalla, Sylvie Provost, Rebecca Robertson, Xavier Allard-Chamard, Martine Tétreault, Sarah J. Reiling, Sara Nagy, Vikas Nishadham, Meera Purushottam, Seena Vengalil, Mainak Bardhan, Atchayaram Nalini, Zhongbo Chen, Jean Mathieu, Rami Massie, Colin H. Chalk, Anne-Louise Lafontaine, François Evoy, Marie-France Rioux, Jiannis Ragoussis, Kym M. Boycott, Marie-Pierre Dubé, Antoine Duquette, Henry Houlden, Gianina Ravenscroft, Nigel G. Laing, Phillipa J. Lamont, Mario A. Saporta, Rebecca Schüle, Ludger Schöls, Roberta La Piana, Matthis Synofzik, Stephan Zuchner, Bernard Brais
Publikováno v:
The New England journal of medicine 388, 128-141 (2022). doi:10.1056/NEJMoa2207406
The late-onset cerebellar ataxias (LOCAs) have largely resisted molecular diagnosis.We sequenced the genomes of six persons with autosomal dominant LOCA who were members of three French Canadian families and identified a candidate pathogenic repeat e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16d4407d5e825b4fbd8d0cfb4927a7a1
https://pub.dzne.de/record/169165
https://pub.dzne.de/record/169165
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:
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