Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Carola Reinhard"'
Autor:
Jana Domínguez Carral, Carola Reinhard, Darius Ebrahimi-Fakhari, Nathalie Dorison, Serena Galosi, Giacomo Garone, Masa Malenica, Claudia Ravelli, Esra Serdaroglu, Laura A. van de Pol, Anne Koy, Vincenzo Leuzzi, Agathe Roubertie, Jean-Pierre Lin, Diane Doummar, Laura Cif, Juan Darío Ortigoza-Escobar
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundGNAO1-related disorders (GNAO1-RD) encompass a diverse spectrum of neurodevelopmental and movement disorders arising from variants in the GNAO1 gene. Dyskinetic crises, marked by sudden and intense exacerbations of abnormal involuntary move
Externí odkaz:
https://doaj.org/article/b868ccdbbf144a0ebf6daa05480378e6
Autor:
Holm Graessner, Carola Reinhard, Tobias Bäumer, Annette Baumgärtner, Knut Brockmann, Norbert Brüggemann, Eva Bültmann, Jeanette Erdmann, Kirstin Heise, Günter Höglinger, Irina Hüning, Frank J. Kaiser, Christine Klein, Thomas Klopstock, Ingeborg Krägeloh-Mann, Markus Kraemer, Kerstin Luedtke, Martin Mücke, Thomas Musacchio, Andreas Nadke, Alma Osmanovic, Gabriele Ritter, Katharina Röse, Christopher Schippers, Ludger Schöls, Rebecca Schüle, Jörg B. Schulz, Joachim Sproß, Eveline Stasch, Gilbert Wunderlich, Alexander Münchau
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background In 2017, the German Academy for Rare Neurological Diseases (Deutsche Akademie für Seltene Neurologische Erkrankungen; DASNE) was founded to pave the way for an optimized personalized management of patients with rare neurological
Externí odkaz:
https://doaj.org/article/dae4649b5a064957935d72b149d0ec67
Autor:
Stephen Morris, Julie Vallortigara, Julie Greenfield, Barry Hunt, Deborah Hoffman, Carola Reinhard, Holm Graessner, Antonio Federico, Vinciane Quoidbach, Paola Giunti
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)
Abstract Background Little is known about the costs of treating ataxia and whether treatment at a specialist ataxia centre affects the cost of care. The aim of this study was to investigate whether patients who attended specialist ataxia centres in t
Externí odkaz:
https://doaj.org/article/73a4cd848505400d97c064c0db95d331
Autor:
Julie Vallortigara, Julie Greenfield, Barry Hunt, Deborah Hoffman, Carola Reinhard, Holm Graessner, Antonio Federico, Vinciane Quoidbach, Steve Morris, Paola Giunti
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Progressive ataxias are rare and complex neurological disorders that represent a challenge for the clinicians to diagnose and manage them. This study explored the patient pathways of individuals attending specialist ataxia centres
Externí odkaz:
https://doaj.org/article/e065d538ca3d4f04a022a5f8a436d69d
Autor:
Monika Benson, Alberto Albanese, Kailash P. Bhatia, Pascale Cavillon, Lorraine Cuffe, Kathrin König, Carola Reinhard, Holm Graessner
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
Abstract Background Patient journey maps are increasingly used as a tool that enables healthcare providers to refine their service provision to best meet patient needs. We developed a cervical dystonia patient journey map (CDPJM) that describes the h
Externí odkaz:
https://doaj.org/article/185c6d1143024d37a9cc67a8af586f82
Autor:
Annemarie E. M. Post, Thomas Klockgether, G. Bernhard Landwehrmeyer, Massimo Pandolfo, Astri Arnesen, Carola Reinhard, Holm Graessner
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Patient involvement in research increases the impact of research and the likelihood of adoption in clinical practice. A first step is to know which research themes are important for patients. We distributed a survey on research pr
Externí odkaz:
https://doaj.org/article/dae7d5d2778a4d64b1b57ea2c1406851
Autor:
Carola Reinhard, Anne-Catherine Bachoud-Lévi, Tobias Bäumer, Enrico Bertini, Alicia Brunelle, Annemieke I. Buizer, Antonio Federico, Thomas Gasser, Samuel Groeschel, Sanja Hermanns, Thomas Klockgether, Ingeborg Krägeloh-Mann, G. Bernhard Landwehrmeyer, Isabelle Leber, Alfons Macaya, Caterina Mariotti, Wassilios G. Meissner, Maria Judit Molnar, Jorik Nonnekes, Juan Dario Ortigoza Escobar, Belen Pérez Dueñas, Lori Renna Linton, Ludger Schöls, Rebecca Schuele, Marina A. J. Tijssen, Rik Vandenberghe, Anna Volkmer, Nicole I. Wolf, Holm Graessner
Publikováno v:
Frontiers in Neurology, Vol 11 (2021)
While rare diseases (RDs) are by definition of low prevalence, the total number of patients suffering from an RD is high, and the majority of them have neurologic manifestations, involving central, peripheral nerve, and muscle. In 2017, 24 European R
Externí odkaz:
https://doaj.org/article/d626e4ca4eb942849d4ce495989090a2
Autor:
Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Reinhard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann, Matthew J. Jennings, Matthis Synofzik, Olaf Riess, Rabah Ben Yaou, Teresinha Evangelista, Thiloka Ratnaike, Virginie Bros-Facer, Gulcin Gumus, Rita Horvath, Patrick Chinnery, Steven Laurie, Holm Graessner, Peter Robinson, Hanns Lochmuller, Sergi Beltran, Gisèle Bonne
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-2 (2021)
An amendment to this paper has been published and can be accessed via the original article.
Externí odkaz:
https://doaj.org/article/0e4b801abb444498b21632827b1c6ec4
Autor:
Katina Aleksovska, Teia Kobulashvili, Joao Costa, Georg Zimmermann, Karen Ritchie, Carola Reinhard, Luca Vignatelli, Alessandra Fanciulli, Maxwel Damian, Lucia Pavlakova, Jean‐Marc Burgunder, Svetlana Kopishinskaya, Martin Rakusa, Norbert Kovacs, Fusun Ferda Erdogan, Lori Renna Linton, Massimiliano Copetti, Costanza Lamperti, Serenella Servidei, Theresina Evangelista, Segolene Ayme, Davide Pareyson, Johann Sellner, Christian Krarup, Marianne de Visser, Peter van den Bergh, Antonio Toscano, Holm Graessner, Thomas Berger, Claudio Bassetti, Marie Vidailhet, Eugene Trinka, Guenther Deuschl, Antonio Federico, Maurizio A. Leone
Publikováno v:
European journal of neurology, 29(6), 1571-1586. Wiley-Blackwell
© 2022 European Academy of Neurology
Background and purpose: Rare diseases affect up to 29 million people in the European Union, and almost 50% of them affect the nervous system or muscles. Delays in diagnosis and treatment onset and insufficie
Background and purpose: Rare diseases affect up to 29 million people in the European Union, and almost 50% of them affect the nervous system or muscles. Delays in diagnosis and treatment onset and insufficie
Autor:
Steve Morris, Julie Vallortigara, Julie Greenfield, Barry Hunt, Deborah Hoffman, Carola Reinhard, Holm Graessner, Antonio Federico, Vinciane Quoidbach, Paola Giunti
Background Little is known about the costs of treating ataxia and whether treatment at a specialist ataxia centre affects the cost of care. The aim of this study was to investigate whether patients who attended specialist ataxia centres in three Euro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d94021ebce1f2b7878346d0f58788b89
https://doi.org/10.21203/rs.3.rs-2718607/v1
https://doi.org/10.21203/rs.3.rs-2718607/v1