Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Andreas Eigentler"'
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:
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:
Wolfgang Nachbauer, Sylvia Boesch, Rainer Schneider, Andreas Eigentler, Julia Wanschitz, Werner Poewe, Michael Schocke
Publikováno v:
PLoS ONE, Vol 8, Iss 7, p e69229 (2013)
UnlabelledFriedreich ataxia (FRDA) is caused by a GAA repeat expansion in the FXN gene leading to reduced expression of the mitochondrial protein frataxin. Recombinant human erythropoietin (rhuEPO) is suggested to increase frataxin levels, alter mito
Externí odkaz:
https://doaj.org/article/2344588afa6b4c23af8c6513c0d70044
Autor:
Santorelli, Filippo M., McLoughlin, Hayley S., Wolter, Justin M., Galatolo, Daniele, Synofzik, Matthis, Mengel, David, Opal, Puneet, Irina, Antonijevic, Georg, Auburger, Luis, Bataller, Enrico, Bertini, Sylvia, Boesch, Samantha, Boeshore, Ronald, Buijsen, Edwin, Chan, Giulia, Coarelli, Nicolas, Dupré, Alexandra, Durr, Andreas, Eigentler, Ewelina, Elert-Dobkowska
Publikováno v:
Cerebellum; Jun2024, Vol. 23 Issue 3, p881-886, 6p
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:
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
Autor:
Gertraud Puttinger, Wolfgang Nachbauer, Iris Unterberger, Matthias Amprosi, Peter Lichtner, Andreas Eigentler, Michael Zech, Sylvia Boesch, Elisabetta Indelicato, Gertrud Eckstein
Publikováno v:
Parkinsonism & Related Disorders. 87:119-121
Dentatorubral-pallidoluysian atrophy (DRPLA) is a CAG trinucleotide repeat expansion disorder with an autosomal-dominant mode of inheritance and very low prevalence in Europe. We herein report the clinical characteristics of the first Austrian DRPLA
Autor:
Wolfgang Nachbauer, Michael Zech, Michael Guger, Andreas Eigentler, Matthias Amprosi, Elke R. Gizewski, Ruth Steiger, Sylvia Boesch, Elisabetta Indelicato
Publikováno v:
neurogenetics. 22:81-86
The spectrum of coenzyme Q10 (CoQ10) deficiency syndromes comprises a variety of disorders, including a form of autosomal recessive cerebellar ataxia (ARCA2) caused by mutations in the AarF domain–containing kinase 3 gene (ADCK3). Due to the potent
Autor:
Matthias Amprosi, Elisabetta Indelicato, Andreas Eigentler, Josef Fritz, Wolfgang Nachbauer, Sylvia Boesch
Publikováno v:
Neurology Genetics. 9:e200052
Background and ObjectivesHereditary spastic paraplegias (HSPs) are a heterogeneous group of rare neurodegenerative diseases, characterized by a progressive spastic paraparesis. Currently, there is a HSP-specific clinician-reported outcome measure (CR
Autor:
Gregor K. Wenning, Jean-Pierre Ndayisaba, Andreas Eigentler, Matthias Amprosi, Roberta Granata, Sylvia Boesch, Alessandra Fanciulli, Wolfgang Nachbauer, Elisabetta Indelicato
Publikováno v:
Journal of Neurology
Background Cerebellar ataxias are a heterogeneous group of disorders of both genetic and non-genetic origin. In sporadic cases, two entities are recognized: multiple system atrophy of cerebellar type (MSA-C) and SAOA (sporadic adult-onset ataxia). Th