Zobrazeno 1 - 10
of 121
pro vyhledávání: '"Katrin Bürk"'
Autor:
Martha M. Téllez-Rojo, María J. Ríos-Blancas, Carolina Lerma-Treviño, Luis F. Bautista-Arredondo, Sandra Spearman, Liz Marsh, Katrin Burkart, Jeff Stanaway, Charlie Ashbaugh, Michael Brauer, Magali Hurtado-Díaz
Publikováno v:
Gaceta Médica de México, Vol 159, Iss 6 (2023)
Antecedentes: Se estima que los factores de riesgo ambientales (FRA) fueron responsables en 2019 de nueve millones de muertes en el mundo. Objetivo: A partir de datos del estudio Global Burden of Disease, se analizaron indicadores de pérdida de salu
Externí odkaz:
https://doaj.org/article/046a31f494d14dc6a4da80f18247d1ef
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:
Kristina Miloserdov, Carsten Schmidt-Samoa, Kathleen Williams, Christiane Anne Weinrich, Igor Kagan, Katrin Bürk, Claudia Trenkwalder, Mathias Bähr, Melanie Wilke
Publikováno v:
NeuroImage: Clinical, Vol 25, Iss , Pp - (2020)
Patients with Parkinson's disease (PD) frequently suffer from visual misperceptions and hallucinations, which are difficult to objectify and quantify. We aimed to develop an image recognition task to objectify misperceptions and to assess performance
Externí odkaz:
https://doaj.org/article/24983527aa36452d86e4546b9f4c8a30
Autor:
Katrin Bürk
Publikováno v:
Essentials of Cerebellum and Cerebellar Disorders ISBN: 9783031150692
Essentials of Cerebellum and Cerebellar Disorders ISBN: 9783319245492
Essentials of Cerebellum and Cerebellar Disorders ISBN: 9783319245492
The International Cooperative Ataxia Rating Scale (ICARS), the Friedreich Ataxia Rating Scale (FARS), the Brief Ataxia Rating Scale (BARS), and the Scale for the Assessment and Rating of Ataxia (SARA) represent validated scales for the assessment of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77680f3d42a6a7c36d1ac823ed5685b9
https://doi.org/10.1007/978-3-031-15070-8_76
https://doi.org/10.1007/978-3-031-15070-8_76
Autor:
Katrin Bürk, Katja Lohmann, Valerija Dobricic, Klaus Isenhardt, Christine Zühlke, Paul J. Lockhart, Vera Tadic, Melanie Bahlo, Maria Gisatulin, Alexander Münchau, Christoph Helmchen, Yorck Hellenbroich, Norbert Brüggemann
Publikováno v:
Neurology. 95:e2912-e2923
ObjectiveTo determine the clinical significance of an intronic biallelic pentanucleotide repeat expansion in the gene encoding replication factor C subunit 1 (RFC1) in patients with late-onset cerebellar ataxia, neuropathy, and vestibular areflexia s
Autor:
Deborah A Sival, Katrin Bürk
Publikováno v:
Handbook of the Cerebellum and Cerebellar Disorders ISBN: 9783319979113
Handbook of the Cerebellum and Cerebellar Disorders
Handbook of the Cerebellum and Cerebellar Disorders
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68299e3a0581b87aa8816ca525a4f78f
https://doi.org/10.1007/978-3-030-23810-0_80
https://doi.org/10.1007/978-3-030-23810-0_80
Autor:
Elnaz Tabibian, Katrin Bürk, Sahar Akbaripour, Farinaz Tabibian, Parisa Emami Ardestani, Iman Adibi
Publikováno v:
Neurodegenerative disease management. 11(2)
Neurologic and nonneurologic manifestations have been shown for Huntington disease (HD) as a genetic neurodegenerative disorder. However, cerebral venous thrombosis (CVT), iron-deficiency anemia and neutropenia have not been reported as its presentat
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:
Maria, Gisatulin, Valerija, Dobricic, Christine, Zühlke, Yorck, Hellenbroich, Vera, Tadic, Alexander, Münchau, Klaus, Isenhardt, Katrin, Bürk, Melanie, Bahlo, Paul J, Lockhart, Katja, Lohmann, Christoph, Helmchen, Norbert, Brüggemann
Publikováno v:
Neurology. 95(21)
To determine the clinical significance of an intronic biallelic pentanucleotide repeat expansion in the gene encoding replication factor C subunit 1 (In this case-control study, we included 457 individuals comprising 26 patients with complete or inco
Autor:
Thomas Klockgether, Wolfgang Nachbauer, Alexandra Durr, Holger Hengel, Alessandro Roca, Katrin Bürk-Gergs, Kathrin Reetz, Dagmar Timmann, Olaf Riess, Caterina Mariotti, Florian Harmuth, Sandro Romanzetti, Jörg B. Schulz, Marcella Masciullo, Carlo Casali, Lorenzo Nanetti, Alessandro Filla, Maria Rakowicz, Jun Suk Kang, Béla Melegh, Laszlo Baliko, Jon Infante, Grzegorz Makowicz, Ludger Schöls, Heike Jacobi, Marie Lorraine Monin, Sophie Tezenas du Montcel
Publikováno v:
The lancet / Neurology 19(9), 738-747 (2020). doi:10.1016/S1474-4422(20)30235-0
Summary Background Spinocerebellar ataxias (SCAs) are autosomal dominant neurodegenerative diseases. Our aim was to study the conversion to manifest ataxia among apparently healthy carriers of mutations associated with the most common SCAs (SCA1, SCA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e75b6d7f3365a7c46786ed5963148a06
http://hdl.handle.net/11573/1638827
http://hdl.handle.net/11573/1638827