Zobrazeno 1 - 10
of 140
pro vyhledávání: '"Wolfgang Nachbauer"'
Autor:
David R. Lynch, Angie Goldsberry, Christian Rummey, Jennifer Farmer, Sylvia Boesch, Martin B. Delatycki, Paola Giunti, J. Chad Hoyle, Caterina Mariotti, Katherine D. Mathews, Wolfgang Nachbauer, Susan Perlman, S.H. Subramony, George Wilmot, Theresa Zesiewicz, Lisa Weissfeld, Colin Meyer
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 1, Pp 4-16 (2024)
Abstract Objective The natural history of Friedreich ataxia is being investigated in a multi‐center longitudinal study designated the Friedreich ataxia Clinical Outcome Measures Study (FACOMS). To understand the utility of this study in analysis of
Externí odkaz:
https://doaj.org/article/cae541cd926943679e42402f8027f507
Autor:
Luca Porcu, Mario Fichera, Lorenzo Nanetti, Eliana Rulli, Paola Giunti, Michael H. Parkinson, Alexandra Durr, Claire Ewenczyk, Sylvia Boesch, Wolfgang Nachbauer, Elisabetta Indelicato, Thomas Klopstock, Claudia Stendel, Francisco Javier Rodríguez de Rivera, Ludger Schöls, Zofia Fleszar, Ilaria Giordano, Claire Didszun, Anna Castaldo, Myriam Rai, Thomas Klockgether, Massimo Pandolfo, Jörg B. Schulz, Kathrin Reetz, Caterina Mariotti, for the EFACTS Study Group
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 11, Pp 2000-2012 (2023)
Abstract Background The Scale for Assessment and Rating of Ataxia (SARA) is widely used in different types of ataxias and has been chosen as the primary outcome measure in the European natural history study for Friedreich ataxia (FA). Methods To asse
Externí odkaz:
https://doaj.org/article/4c3b33ada73f4a84b5a8c6fca707bd4a
Autor:
Elisabetta Indelicato, Klaus Faserl, Matthias Amprosi, Wolfgang Nachbauer, Rainer Schneider, Julia Wanschitz, Bettina Sarg, Sylvia Boesch
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
Friedreich’s ataxia (FRDA) is a severe multisystemic disorder caused by a deficiency of the mitochondrial protein frataxin. While some aspects of FRDA pathology are developmental, the causes underlying the steady progression are unclear. The inacce
Externí odkaz:
https://doaj.org/article/473851c19ee54d6ba14486760efcd34a
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, Vol 12, Iss 1, Pp 1-12 (2022)
Abstract We explored whether disease severity of Friedreich ataxia can be predicted using data from clinical examinations. From the database of the European Friedreich Ataxia Consortium for Translational Studies (EFACTS) data from up to five examinat
Externí odkaz:
https://doaj.org/article/ed878735d7364c09bd52d4f117032190
Autor:
Matthias Amprosi, Elisabetta Indelicato, Wolfgang Nachbauer, Anna Hussl, Claudia Stendel, Andreas Eigentler, Constanze Gallenmüller, Sylvia Boesch, Thomas Klopstock
Publikováno v:
Frontiers in Neurology, Vol 12 (2022)
Background:Mast syndrome is a rare disorder belonging to the group of hereditary spastic paraplegias (HSPs). It is caused by bi-allelic mutations in the ACP33 gene, and is originally described in Old Order Amish. Outside this population, only one Jap
Externí odkaz:
https://doaj.org/article/9ec4ca6506004ecfb07cd0474574dd22
Autor:
Elisabetta Indelicato, Wolfgang Nachbauer, Andreas Eigentler, Matthias Amprosi, Raffaella Matteucci Gothe, Paola Giunti, Caterina Mariotti, Javier Arpa, Alexandra Durr, Thomas Klopstock, Ludger Schöls, Ilaria Giordano, Katrin Bürk, Massimo Pandolfo, Claire Didszdun, Jörg B. Schulz, Sylvia Boesch, on behalf of the EFACTS (European Friedreich’s Ataxia Consortium for Translational Studies)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-8 (2020)
Abstract 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 homozyg
Externí odkaz:
https://doaj.org/article/5093ab0bf570434e9b98ec903f32aa7e
Autor:
David R. Lynch, Melanie P. Chin, Sylvia Boesch, Martin B. Delatycki, Paola Giunti, Angie Goldsberry, J. Chad Hoyle, Caterina Mariotti, Katherine D. Mathews, Wolfgang Nachbauer, Megan O'Grady, Susan Perlman, S.H. Subramony, George Wilmot, Theresa Zesiewicz, Colin J. Meyer
Publikováno v:
Movement Disorders. 38:313-320
MOXIe was a two-part study evaluating the safety and efficacy of omaveloxolone in patients with Friedreich's ataxia, a rare, progressive neurological disease with no proven therapy. MOXIe part 2, a randomized double-blind placebo-controlled trial, sh
Autor:
Elisabetta Indelicato, Alexander Kirchmair, Matthias Amprosi, Stephan Steixner, Wolfgang Nachbauer, Andreas Eigentler, Nico Wahl, Galina Apostolova, Anne Krogsdam, Rainer Schneider, Julia Wanschitz, Zlatko Trajanoski, Sylvia Boesch
Publikováno v:
Human Molecular Genetics.
Objective: In Friedreich’s ataxia (FRDA), the most affected tissues are not accessible to sampling and available transcriptomic findings originate from blood-derived cells and animal models. Herein, we aimed at dissecting for the first time the pat
Autor:
Demet Oender, Jennifer Faber, Carlo Wilke, Tamara Schaprian, Asadeh Lakghomi, David Mengel, Ludger Schöls, Andreas Traschütz, Zofia Fleszar, Claudia Dufke, Stefan Vielhaber, Judith Machts, Ilaria Giordano, Marcus Grobe‐Einsler, Thomas Klopstock, Claudia Stendel, Sylvia Boesch, Wolfgang Nachbauer, Dagmar Timmann‐Braun, Andreas Gustafsson Thieme, Christoph Kamm, Ales Dudesek, Chantal Tallaksen, Iselin Wedding, Alessandro Filla, Matthias Schmid, Matthis Synofzik, Thomas Klockgether
Publikováno v:
Movement disorders 38(4), 654-664 (2023). doi:10.1002/mds.29324
Background: Sporadic adult-onset ataxias without known genetic or acquired cause are subdivided into multiple system atrophy of cerebellar type (MSA-C) and sporadic adult-onset ataxia of unknown etiology (SAOA). Objectives: To study the differential
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::719b91ca7931ccf804c03da3c10683ee
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85147222444
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85147222444
Autor:
Elisabetta Indelicato, Gregor K. Wenning, Andreas Eigentler, Julius Hannink, Sylvia Boesch, Matthias Amprosi, Sarah Runer, Cecilia Raccagni, Wolfgang Nachbauer
Publikováno v:
Journal of Neurology. 269:2941-2947
Background Gait disturbances are a frequent symptom in CACNA1A disorders. Even though, data about their severity and progression are lacking and no CACNA1A-specific scale or assessment for gait is available. Methods We applied a gait assessment proto